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 ABCA13 0 genome.wustl.edu 37 7 48375057 48375057 + Silent SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 48375057 48375057 T G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.10038 p.T3346 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 56 0 0.00 58 11 15.94 ABL2 0 genome.wustl.edu 37 1 179077355 179077355 + Nonsense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 179077355 179077355 G C SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known nonsense c.3047 p.S1016* 0.964 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 tier1 - - 134 0 0.00 135 15 10.00 ACAN 0 genome.wustl.edu 37 15 89400067 89400067 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 89400067 89400067 A C SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.4251 p.E1417D 0.001 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 223 0 0.00 244 70 22.29 ACBD5 0 genome.wustl.edu 37 10 27497347 27497347 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 10 27497347 27497347 C G SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known missense c.1259 p.G420A 0.992 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 tier1 - - 79 0 0.00 94 11 10.48 ADAM21P1 0 genome.wustl.edu 37 14 70713992 70713992 + RNA DEL C C - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 70713992 70713992 C - DEL ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors ADAM21P1 HGNC ENSG00000235812 tier1 86 0 0.00 82 22 21.15 AFF3 0 genome.wustl.edu 37 2 100199324 100199324 + Nonsense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 100199324 100199324 G C SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known nonsense c.2804 p.S935* 0.973 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 tier1 - - 88 0 0.00 72 12 14.29 AFG3L2 0 genome.wustl.edu 37 18 12367347 12367347 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 18 12367347 12367347 T C SNP AFG3L2 ENST00000269143 human ensembl 74_37 -1 known silent c.327 p.G109 0.996 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 tier1 - - 117 0 0.00 72 34 32.08 AIM2 0 genome.wustl.edu 37 1 159032486 159032487 + Frame_Shift_Ins INS - - T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 159032486 159032487 - T INS AIM2 ENST00000368130 human ensembl 74_37 -1 known frame_shift_ins c.1028_1027 p.T343fs 0.000:0.001 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 tier1 35 0 0.00 38 7 15.56 AMY2B 0 genome.wustl.edu 37 1 104116967 104116967 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 104116967 104116967 T C SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.830 p.L277P 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 179 0 0.00 80 38 32.20 ANGPTL3 0 genome.wustl.edu 37 1 63070426 63070426 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 63070426 63070426 T C SNP ANGPTL3 ENST00000371129 human ensembl 74_37 +1 known silent c.1321 p.L441 0.385 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL3 HGNC ENSG00000132855 tier1 - - 67 0 0.00 62 9 12.68 ANK2 0 genome.wustl.edu 37 4 114274810 114274810 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 114274810 114274810 G C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.5036 p.G1679A 0.117 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 56 0 0.00 43 17 28.33 ANK2 0 genome.wustl.edu 37 4 114275318 114275318 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 114275318 114275318 A C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.5544 p.S1848 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 171 0 0.00 109 64 36.78 ANKRD29 0 genome.wustl.edu 37 18 21181263 21181263 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 18 21181263 21181263 A C SNP ANKRD29 ENST00000592179 human ensembl 74_37 -1 known missense c.833 p.L278R 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD29 HGNC ENSG00000154065 tier1 - - 46 0 0.00 43 12 21.82 ANKRD30B 0 genome.wustl.edu 37 18 14848928 14848928 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 18 14848928 14848928 G A SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3038 p.R1013K 0.993 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 13 0 0.00 19 9 32.14 APOL3 0 genome.wustl.edu 37 22 36537519 36537519 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 22 36537519 36537519 C T SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known missense c.938 p.R313Q 0.000 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 tier1 - - 69 0 0.00 31 6 16.22 ARHGAP32 0 genome.wustl.edu 37 11 128840300 128840300 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 128840300 128840300 G A SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.4766 p.P1589L 0.989 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 67 0 0.00 85 12 12.37 ARHGEF17 0 genome.wustl.edu 37 11 73020722 73020722 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 73020722 73020722 G A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.1039 p.G347S 0.806 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 tier1 - - 96 0 0.00 72 18 20.00 ARPP21 0 genome.wustl.edu 37 3 35835229 35835229 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 35835229 35835229 C G SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.2221 p.Q741E 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 73 0 0.00 69 11 13.58 ASB10 0 genome.wustl.edu 37 7 150873302 150873302 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 150873302 150873302 C T SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.1436 p.R479H 0.995 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 tier1 - - 65 0 0.00 46 7 13.21 ASTN1 0 genome.wustl.edu 37 1 176915236 176915236 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 176915236 176915236 A C SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.2099 p.L700R 1.000 smart_EG-like_dom superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 70 0 0.00 78 21 21.21 ATP2B4 0 genome.wustl.edu 37 1 203669980 203669980 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 203669980 203669980 A C SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.830 p.N277T 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 tier1 - - 43 0 0.00 38 19 33.33 ATXN1 0 genome.wustl.edu 37 6 16326753 16326753 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 16326753 16326753 C A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.1789 p.D597Y 1.000 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 tier1 - - 84 0 0.00 124 8 6.02 B4GALNT1 0 genome.wustl.edu 37 12 58024985 58024985 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 58024985 58024985 C G SNP B4GALNT1 ENST00000552219 human ensembl 74_37 -1 known missense c.271 p.E91Q 0.999 NULL NULL - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 - - 336 0 0.00 228 38 14.23 BMP4 0 genome.wustl.edu 37 14 54417601 54417601 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 54417601 54417601 G C SNP BMP4 ENST00000245451 human ensembl 74_37 -1 known missense c.376 p.L126V 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 tier1 - - 87 0 0.00 46 20 30.30 BPTF 0 genome.wustl.edu 37 17 65908586 65908586 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 65908586 65908586 A G SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.4964 p.N1655S 0.001 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 tier1 - - 55 0 0.00 48 13 21.31 BRINP3 0 genome.wustl.edu 37 1 190067816 190067816 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 190067816 190067816 T G SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1633 p.S545R 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 85 0 0.00 58 26 30.95 C10orf2 0 genome.wustl.edu 37 10 102749120 102749120 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 10 102749120 102749120 G A SNP C10orf2 ENST00000311916 human ensembl 74_37 +1 known missense c.1153 p.E385K 1.000 superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 tier1 - - 99 0 0.00 36 34 47.89 C19orf18 0 genome.wustl.edu 37 19 58483855 58483855 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 58483855 58483855 G C SNP C19orf18 ENST00000314391 human ensembl 74_37 -1 known missense c.244 p.P82A 0.000 NULL NULL - no_errors C19orf18 HGNC ENSG00000177025 tier1 - - 37 0 0.00 37 8 17.78 C19orf40 0 genome.wustl.edu 37 19 33464169 33464169 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 33464169 33464169 G A SNP C19orf40 ENST00000588258 human ensembl 74_37 +1 known missense c.67 p.E23K 1.000 NULL superfamily_RuvA_2-like - no_errors C19orf40 HGNC ENSG00000131944 tier1 - - 96 0 0.00 81 21 20.59 CACNA1E 0 genome.wustl.edu 37 1 181767927 181767927 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 181767927 181767927 T A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.6899 p.V2300D 0.998 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 37 0 0.00 35 6 14.63 CACNA1I 0 genome.wustl.edu 37 22 40037181 40037181 + Silent SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 22 40037181 40037181 C A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known silent c.1050 p.I350 0.991 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 tier1 - - 77 0 0.00 40 13 24.53 CCDC178 0 genome.wustl.edu 37 18 30792016 30792016 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 18 30792016 30792016 G T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.2082 p.N694K 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 - - 11 0 0.00 10 6 37.50 CCDC60 0 genome.wustl.edu 37 12 119960742 119960742 + Splice_Site SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 119960742 119960742 A G SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known splice_site c.1041-2 e10-2 1.000 - - - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 161 0 0.00 178 38 17.59 CCL2 0 genome.wustl.edu 37 17 32582395 32582395 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 32582395 32582395 C T SNP CCL2 ENST00000225831 human ensembl 74_37 +1 known silent c.27 p.C9 1.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL2 HGNC ENSG00000108691 tier1 - - 55 0 0.00 45 12 21.05 CCR3 0 genome.wustl.edu 37 3 46307116 46307116 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 46307116 46307116 T G SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.530 p.V177G 0.979 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 tier1 - - 62 0 0.00 66 10 13.16 CCR3 0 genome.wustl.edu 37 3 46307118 46307118 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 46307118 46307118 A C SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.532 p.T178P 0.982 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 tier1 - - 61 0 0.00 66 11 14.10 CD33 0 genome.wustl.edu 37 19 51728692 51728692 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 51728692 51728692 A G SNP CD33 ENST00000262262 human ensembl 74_37 +1 known missense c.256 p.T86A 0.021 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD33 HGNC ENSG00000105383 tier1 - - 91 0 0.00 95 7 6.86 CDH18 0 genome.wustl.edu 37 5 19473296 19473296 + RNA SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 19473296 19473296 T C SNP CDH18 ENST00000510297 human ensembl 74_37 -1 known rna NULL NULL 0.207 - - - no_errors CDH18 HGNC ENSG00000145526 tier1 - - 66 0 0.00 82 17 17.17 CDH9 0 genome.wustl.edu 37 5 26915859 26915859 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 26915859 26915859 T G SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.402 p.K134N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 161 0 0.00 175 55 23.81 CHD3 0 genome.wustl.edu 37 17 7796734 7796736 + In_Frame_Del DEL GCA GCA - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 7796734 7796736 GCA - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known in_frame_del c.640_642 p.A217in_frame_del 0.998:0.998:0.100 superfamily_HMG_box_dom pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 tier1 27 0 0.00 12 2 14.29 CHPF 0 genome.wustl.edu 37 2 220408082 220408082 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 220408082 220408082 C T SNP CHPF ENST00000243776 human ensembl 74_37 -1 known missense c.179 p.R60H 0.998 NULL pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 tier1 - - 22 0 0.00 20 7 25.93 CILP 0 genome.wustl.edu 37 15 65491282 65491282 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 65491282 65491282 G A SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.1342 p.R448C 0.889 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 tier1 rs201015610 - 53 0 0.00 51 12 19.05 CMYA5 0 genome.wustl.edu 37 5 79030206 79030206 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 79030206 79030206 A G SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.5618 p.K1873R 0.004 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 62 0 0.00 42 9 17.65 CNGA4 0 genome.wustl.edu 37 11 6265440 6265440 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 6265440 6265440 A C SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.1529 p.K510T 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 tier1 - - 70 0 0.00 72 5 6.49 CNGB3 0 genome.wustl.edu 37 8 87591013 87591013 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 87591013 87591013 T G SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.2007 p.K669N 0.662 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 tier1 - - 92 0 0.00 73 44 37.61 CNN3 0 genome.wustl.edu 37 1 95363372 95363372 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 95363372 95363372 C T SNP CNN3 ENST00000370206 human ensembl 74_37 -1 known missense c.916 p.D306N 1.000 NULL pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC ENSG00000117519 tier1 - - 181 0 0.00 114 33 22.45 CNTN3 0 genome.wustl.edu 37 3 74411155 74411155 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 74411155 74411155 T G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1250 p.K417T 0.703 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 46 0 0.00 35 15 30.00 CNTN5 0 genome.wustl.edu 37 11 100064359 100064359 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 100064359 100064359 C A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.1848 p.F616L 0.900 pfam_Ig_I-set,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_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 55 0 0.00 75 14 15.73 COL11A1 0 genome.wustl.edu 37 1 103343575 103343575 + Nonstop_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 103343575 103343575 T G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known nonstop c.5457 p.*1819Y 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 75 0 0.00 46 11 19.30 COL21A1 0 genome.wustl.edu 37 6 56044591 56044591 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 56044591 56044591 A C SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.425 p.L142R 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 tier1 - - 34 0 0.00 39 9 18.75 COL9A1 0 genome.wustl.edu 37 6 70961827 70961827 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 70961827 70961827 A C SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.1868 p.L623R 0.980 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 tier1 - - 183 0 0.00 235 36 13.28 CRNN 0 genome.wustl.edu 37 1 152382839 152382839 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 152382839 152382839 T C SNP CRNN ENST00000271835 human ensembl 74_37 -1 known missense c.719 p.Q240R 0.145 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 tier1 - - 249 0 0.00 270 90 24.93 CSMD3 0 genome.wustl.edu 37 8 113277783 113277783 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 113277783 113277783 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9545 p.G3182V 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 105 0 0.00 95 20 17.39 CTSO 0 genome.wustl.edu 37 4 156849531 156849531 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 156849531 156849531 T C SNP CTSO ENST00000433477 human ensembl 74_37 -1 known silent c.888 p.G296 0.071 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 tier1 - - 78 0 0.00 66 35 34.65 CXorf23 0 genome.wustl.edu 37 X 19983249 19983249 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 19983249 19983249 A C SNP CXorf23 ENST00000379687 human ensembl 74_37 -1 known missense c.1187 p.L396R 0.008 NULL NULL - no_errors CXorf23 HGNC ENSG00000173681 tier1 - - 24 0 0.00 37 11 22.92 DAAM2 0 genome.wustl.edu 37 6 39864668 39864668 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 39864668 39864668 T G SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.2422 p.F808V 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 tier1 - - 63 0 0.00 53 26 32.91 DCLK2 0 genome.wustl.edu 37 4 151023935 151023935 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 151023935 151023935 A G SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.727 p.K243E 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 tier1 - - 50 0 0.00 17 28 62.22 DLG2 0 genome.wustl.edu 37 11 84028157 84028157 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 84028157 84028157 C G SNP DLG2 ENST00000280241 human ensembl 74_37 -1 known missense c.32 p.C11S 1.000 pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 175 0 0.00 188 24 11.32 DMD 0 genome.wustl.edu 37 X 31515002 31515002 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 31515002 31515002 A C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.8450 p.L2817R 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 17 0 0.00 7 10 58.82 DNAH11 0 genome.wustl.edu 37 7 21675579 21675579 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 21675579 21675579 T C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.4606 p.L1536 0.483 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 18 0 0.00 19 8 29.63 DNAH3 0 genome.wustl.edu 37 16 21053505 21053505 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 21053505 21053505 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.4482 p.V1494 0.588 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 rs147257748 - 90 0 0.00 69 41 37.27 DNAH8 0 genome.wustl.edu 37 6 38754674 38754674 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 38754674 38754674 A C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.1878 p.A626 0.903 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 42 0 0.00 73 25 25.51 DNAH8 0 genome.wustl.edu 37 6 38828369 38828369 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 38828369 38828369 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.5444 p.C1815F 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 42 0 0.00 46 5 9.80 DOCK10 0 genome.wustl.edu 37 2 225717731 225717731 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 225717731 225717731 C T SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.1997 p.R666Q 0.999 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 tier1 - - 45 0 0.00 35 11 23.91 DOCK2 0 genome.wustl.edu 37 5 169468062 169468062 + Nonsense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 169468062 169468062 C G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known nonsense c.3669 p.Y1223* 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 66 0 0.00 27 12 30.77 DSCAM 0 genome.wustl.edu 37 21 41450790 41450790 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 21 41450790 41450790 T G SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.4535 p.E1512A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 39 0 0.00 25 12 32.43 DYTN 0 genome.wustl.edu 37 2 207527965 207527965 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 207527965 207527965 T G SNP DYTN ENST00000452335 human ensembl 74_37 -1 known missense c.1295 p.K432T 0.000 NULL pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 tier1 - - 62 0 0.00 46 18 28.12 EGFR 0 genome.wustl.edu 37 7 55220325 55220325 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 55220325 55220325 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.715 p.G239S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 tier1 - - 138 0 0.00 138 15 9.80 EIF2B2 0 genome.wustl.edu 37 14 75471487 75471487 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 75471487 75471487 T C SNP EIF2B2 ENST00000266126 human ensembl 74_37 +1 known missense c.481 p.S161P 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B2 HGNC ENSG00000119718 tier1 - - 73 0 0.00 34 60 63.83 EMC7 0 genome.wustl.edu 37 15 34393934 34393934 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 34393934 34393934 C T SNP EMC7 ENST00000256545 human ensembl 74_37 -1 known missense c.107 p.G36E 0.999 NULL pfam_DUF2012,superfamily_Carb-bd-like_fold - no_errors EMC7 HGNC ENSG00000134153 tier1 - - 200 0 0.00 210 35 14.29 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987960 + RNA DEL A A - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 51987960 51987960 A - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 tier1 12 0 0.00 8 4 33.33 FAM102A 0 genome.wustl.edu 37 9 130707126 130707126 + Silent SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 9 130707126 130707126 C A SNP FAM102A ENST00000373095 human ensembl 74_37 -1 known silent c.969 p.R323 0.851 NULL pfam_NT-C2 - no_errors FAM102A HGNC ENSG00000167106 tier1 - - 49 0 0.00 24 5 17.24 FAM47C 0 genome.wustl.edu 37 X 37029016 37029016 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 37029016 37029016 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.2533 p.R845C 0.137 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 55 0 0.00 41 28 40.58 FAT4 0 genome.wustl.edu 37 4 126412593 126412593 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 126412593 126412593 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.14616 p.Q4872H 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 73 0 0.00 37 20 35.09 FCGBP 0 genome.wustl.edu 37 19 40424378 40424378 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 40424378 40424378 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.1825 p.G609R 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 131 0 0.00 129 21 14.00 FOXC2 0 genome.wustl.edu 37 16 86602257 86602257 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 86602257 86602257 C G SNP FOXC2 ENST00000320354 human ensembl 74_37 +1 known missense c.1316 p.T439R 0.999 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 tier1 - - 64 0 0.00 41 32 43.84 FREM2 0 genome.wustl.edu 37 13 39338466 39338466 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 39338466 39338466 T G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.5289 p.N1763K 0.996 smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 44 0 0.00 78 9 10.34 FRY 0 genome.wustl.edu 37 13 32705857 32705857 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 32705857 32705857 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.765 p.R255 0.999 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 54 0 0.00 85 10 10.53 FSTL4 0 genome.wustl.edu 37 5 132535260 132535260 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 132535260 132535260 C T SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.2056 p.G686S 0.234 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 tier1 - - 75 0 0.00 36 38 51.35 GALNT3 0 genome.wustl.edu 37 2 166605312 166605312 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 166605312 166605312 C A SNP GALNT3 ENST00000392701 human ensembl 74_37 -1 known missense c.1881 p.W627C 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 tier1 - - 12 0 0.00 18 6 25.00 GLS2 0 genome.wustl.edu 37 12 56868376 56868376 + Silent SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 56868376 56868376 G C SNP GLS2 ENST00000311966 human ensembl 74_37 -1 known silent c.1176 p.L392 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 tier1 - - 108 0 0.00 88 12 12.00 GNGT1 0 genome.wustl.edu 37 7 93540115 93540115 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 93540115 93540115 G C SNP GNGT1 ENST00000248572 human ensembl 74_37 +1 known missense c.110 p.C37S 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNGT1 HGNC ENSG00000127928 tier1 - - 94 0 0.00 143 15 9.49 GPLD1 0 genome.wustl.edu 37 6 24475365 24475365 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 24475365 24475365 A C SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.425 p.L142R 0.969 NULL pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 tier1 - - 84 0 0.00 100 34 25.37 GREB1 0 genome.wustl.edu 37 2 11729005 11729005 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 11729005 11729005 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.1293 p.P431 0.993 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 96 0 0.00 58 29 33.33 GRK4 0 genome.wustl.edu 37 4 3006017 3006017 + Silent SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 3006017 3006017 G C SNP GRK4 ENST00000398052 human ensembl 74_37 +1 known silent c.399 p.L133 0.147 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 tier1 - - 144 0 0.00 123 49 28.49 GRM8 0 genome.wustl.edu 37 7 126086390 126086390 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 126086390 126086390 T C SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.2467 p.S823G 1.000 pfam_GPCR_3_C,prints_GPCR_3_mtglu_rcpt,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 51 0 0.00 36 17 32.08 GSTM4 0 genome.wustl.edu 37 1 110201636 110201636 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 110201636 110201636 T C SNP GSTM4 ENST00000369836 human ensembl 74_37 +1 known silent c.471 p.D157 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM4 HGNC ENSG00000168765 tier1 - - 431 0 0.00 248 151 37.84 GTF3C5 0 genome.wustl.edu 37 9 135932234 135932234 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 9 135932234 135932234 C T SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known silent c.1353 p.S451 0.001 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 tier1 rs148556381 - 118 0 0.00 85 21 19.81 HGD 0 genome.wustl.edu 37 3 120365162 120365162 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 120365162 120365162 A C SNP HGD ENST00000283871 human ensembl 74_37 -1 known missense c.601 p.L201V 1.000 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC ENSG00000113924 tier1 - - 103 0 0.00 60 23 27.71 HIVEP3 0 genome.wustl.edu 37 1 42045768 42045768 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 42045768 42045768 A C SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.4701 p.P1567 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 126 0 0.00 79 14 15.05 HMHA1 0 genome.wustl.edu 37 19 1080282 1080282 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 1080282 1080282 A G SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.1732 p.S578G 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 tier1 - - 173 0 0.00 96 14 12.73 IFT172 0 genome.wustl.edu 37 2 27684324 27684324 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 27684324 27684324 G T SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.2254 p.Q752K 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 119 0 0.00 126 23 15.44 IL27 0 genome.wustl.edu 37 16 28518114 28518114 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 28518114 28518114 C T SNP IL27 ENST00000356897 human ensembl 74_37 -1 known missense c.19 p.D7N 0.881 NULL superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 tier1 rs150815897 - 55 0 0.00 76 7 8.43 IRF2BPL 0 genome.wustl.edu 37 14 77491778 77491778 + Silent SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 77491778 77491778 C G SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known silent c.2358 p.G786 1.000 NULL pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 tier1 - - 109 0 0.00 75 16 17.58 ISM1 0 genome.wustl.edu 37 20 13279747 13279747 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 20 13279747 13279747 T G SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.1036 p.F346V 1.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 tier1 - - 26 0 0.00 32 16 33.33 ITGAX 0 genome.wustl.edu 37 16 31383944 31383944 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 31383944 31383944 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.2319 p.A773 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 tier1 - - 52 0 0.00 39 12 23.53 KCNH1 0 genome.wustl.edu 37 1 211192300 211192300 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 211192300 211192300 A G SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.857 p.L286P 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 tier1 - - 90 0 0.00 60 34 35.79 KCTD16 0 genome.wustl.edu 37 5 143586831 143586831 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 143586831 143586831 A G SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known missense c.554 p.K185R 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 tier1 - - 56 0 0.00 19 29 60.42 KDM1A 0 genome.wustl.edu 37 1 23376959 23376959 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 23376959 23376959 T G SNP KDM1A ENST00000542151 human ensembl 74_37 +1 known missense c.657 p.I219M 1.000 pfam_SWIRM,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 tier1 - - 104 0 0.00 95 17 15.18 KHDC3L 0 genome.wustl.edu 37 6 74073316 74073316 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 74073316 74073316 G A SNP KHDC3L ENST00000370367 human ensembl 74_37 +1 known silent c.387 p.Q129 0.003 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 tier1 - - 61 0 0.00 98 14 12.50 KIAA0319 0 genome.wustl.edu 37 6 24596437 24596437 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 24596437 24596437 C T SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known silent c.465 p.E155 0.988 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 tier1 - - 82 0 0.00 131 28 17.61 KIR3DL1 0 genome.wustl.edu 37 19 55331308 55331308 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 55331308 55331308 C T SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known missense c.496 p.R166C 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 tier1 - - 101 0 0.00 46 69 60.00 KRT74 0 genome.wustl.edu 37 12 52962020 52962020 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 52962020 52962020 T A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known missense c.1288 p.S430C 1.000 pfam_IF pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 tier1 - - 95 0 0.00 56 12 17.39 KRTAP10-11 0 genome.wustl.edu 37 21 46066461 46066461 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 21 46066461 46066461 C T SNP KRTAP10-11 ENST00000334670 human ensembl 74_37 +1 known missense c.86 p.P29L 1.000 NULL NULL - no_errors KRTAP10-11 HGNC ENSG00000243489 tier1 - - 86 0 0.00 71 13 15.29 LEPR 0 genome.wustl.edu 37 1 66075940 66075940 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 66075940 66075940 T C SNP LEPR ENST00000349533 human ensembl 74_37 +1 known silent c.1956 p.D652 0.011 smart_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 tier1 - - 49 0 0.00 20 12 37.50 LIG1 0 genome.wustl.edu 37 19 48618952 48618952 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 48618952 48618952 T C SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known missense c.2714 p.N905S 1.000 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 tier1 - - 71 0 0.00 75 21 21.88 LINC00303 0 genome.wustl.edu 37 1 204006687 204006687 + RNA SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 204006687 204006687 G T SNP LINC00303 ENST00000367207 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00303 HGNC ENSG00000176754 tier1 - - 30 0 0.00 40 5 11.11 LOC101929693 0 genome.wustl.edu 37 17 38499132 38499133 + RNA DEL CT CT - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 38499132 38499133 CT - DEL LOC101929693 ENST00000581080 human ensembl 74_37 -1 known rna NULL NULL 0.790:0.002 - - - no_errors CTD-2267D19.2 Clone_based_vega_gene ENSG00000265666 tier1 258 0 0.00 784 3404 81.28 LOC101929693 0 genome.wustl.edu 37 17 38499141 38499142 + RNA INS - - CTC TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 38499141 38499142 - CTC INS LOC101929693 ENST00000581080 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors CTD-2267D19.2 Clone_based_vega_gene ENSG00000265666 tier1 228 0 0.00 832 2675 76.28 LRP1B 0 genome.wustl.edu 37 2 141130589 141130589 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 141130589 141130589 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10756 p.S3586R 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 118 0 0.00 89 33 27.05 LUZP2 0 genome.wustl.edu 37 11 24750807 24750807 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 24750807 24750807 T C SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known missense c.155 p.L52P 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 tier1 - - 72 0 0.00 91 11 10.78 LY75 0 genome.wustl.edu 37 2 160628362 160628362 + Nonstop_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 160628362 160628362 T G SNP LY75 ENST00000554112 human ensembl 74_37 -1 known nonstop c.5622 p.*1874Y 0.007 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 - - 46 0 0.00 35 15 30.00 MAGEC1 0 genome.wustl.edu 37 X 140996330 140996330 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 140996330 140996330 T G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3140 p.V1047G 0.033 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 70 0 0.00 56 18 24.32 MDGA2 0 genome.wustl.edu 37 14 47601018 47601018 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 47601018 47601018 A C SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.824 p.L275R 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 38 0 0.00 20 15 42.86 MED13 0 genome.wustl.edu 37 17 60060297 60060297 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 60060297 60060297 C G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.3067 p.G1023R 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 tier1 - - 51 0 0.00 49 9 15.52 MGAM 0 genome.wustl.edu 37 7 141765633 141765633 + Splice_Site SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 141765633 141765633 T G SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative splice_site c.4770+2 e39+2 0.998 - - - no_errors MGAM HGNC ENSG00000257335 tier1 - - 36 0 0.00 11 15 57.69 MICALL2 0 genome.wustl.edu 37 7 1484296 1484296 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 1484296 1484296 C T SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known silent c.1410 p.A470 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 tier1 - - 34 0 0.00 44 7 13.73 MITF 0 genome.wustl.edu 37 3 69987080 69987080 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 69987080 69987080 A C SNP MITF ENST00000448226 human ensembl 74_37 +1 known missense c.462 p.Q154H 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MITF HGNC ENSG00000187098 tier1 - - 62 0 0.00 20 21 51.22 MKRN3 0 genome.wustl.edu 37 15 23812089 23812089 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 23812089 23812089 T G SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.1160 p.L387R 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 76 0 0.00 83 29 25.89 MLKL 0 genome.wustl.edu 37 16 74708987 74708987 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 74708987 74708987 C T SNP MLKL ENST00000308807 human ensembl 74_37 -1 known missense c.1252 p.E418K 0.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC ENSG00000168404 tier1 - - 72 0 0.00 56 11 16.42 MRPS14 0 genome.wustl.edu 37 1 174987569 174987569 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 174987569 174987569 C A SNP MRPS14 ENST00000476371 human ensembl 74_37 -1 known missense c.189 p.L63F 1.000 NULL pfam_Ribosomal_S14 - no_errors MRPS14 HGNC ENSG00000120333 tier1 - - 108 0 0.00 113 28 19.86 MTHFD1L 0 genome.wustl.edu 37 6 151331065 151331065 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 151331065 151331065 G C SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.2236 p.A746P 1.000 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 tier1 - - 44 0 0.00 62 7 10.14 MTNR1B 0 genome.wustl.edu 37 11 92714994 92714994 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 92714994 92714994 C T SNP MTNR1B ENST00000257068 human ensembl 74_37 +1 known missense c.605 p.A202V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 tier1 - - 48 0 0.00 62 12 16.22 MUC6 0 genome.wustl.edu 37 11 1016756 1016756 + Frame_Shift_Del DEL G G - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 1016756 1016756 G - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.6045 p.L2016fs 0.013 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 1083 0 0.00 1128 107 8.66 MXRA5 0 genome.wustl.edu 37 X 3227908 3227908 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 3227908 3227908 A T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.8336 p.V2779D 0.015 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 45 0 0.00 44 17 27.42 MYF5 0 genome.wustl.edu 37 12 81111069 81111069 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 81111069 81111069 A T SNP MYF5 ENST00000228644 human ensembl 74_37 +1 known missense c.227 p.K76M 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF5 HGNC ENSG00000111049 tier1 - - 54 0 0.00 44 11 20.00 MYO16 0 genome.wustl.edu 37 13 109535435 109535435 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 109535435 109535435 G C SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.1388 p.G463A 0.997 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 129 0 0.00 209 21 9.13 MYO16 0 genome.wustl.edu 37 13 109777573 109777573 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 109777573 109777573 A C SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.3583 p.T1195P 0.995 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 28 0 0.00 40 14 25.93 N4BP2 0 genome.wustl.edu 37 4 40104441 40104441 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 40104441 40104441 T G SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.976 p.F326V 0.655 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 tier1 - - 45 0 0.00 58 20 25.64 NBEA 0 genome.wustl.edu 37 13 36141113 36141113 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 36141113 36141113 T G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6994 p.L2332V 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 55 0 0.00 98 28 22.22 NBPF12 0 genome.wustl.edu 37 1 146420148 146420148 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 146420148 146420148 C T SNP NBPF12 ENST00000446760 human ensembl 74_37 +1 known silent c.1902 p.Y634 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 tier1 - - 20 0 0.00 12 2 14.29 NEDD4 0 genome.wustl.edu 37 15 56152909 56152909 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 56152909 56152909 G A SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.1999 p.R667W 0.871 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 tier1 - - 85 0 0.00 45 49 52.13 NEUROD4 0 genome.wustl.edu 37 12 55420589 55420589 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 55420589 55420589 A C SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.366 p.K122N 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 tier1 - - 80 0 0.00 76 6 7.32 NFIX 0 genome.wustl.edu 37 19 13192537 13192537 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 13192537 13192537 G A SNP NFIX ENST00000585575 human ensembl 74_37 +1 known silent c.1098 p.T366 0.851 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIX HGNC ENSG00000008441 tier1 - - 58 0 0.00 41 13 24.07 NHS 0 genome.wustl.edu 37 X 17744831 17744831 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 17744831 17744831 G A SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.2542 p.E848K 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 tier1 - - 67 0 0.00 76 21 21.65 NIPBL 0 genome.wustl.edu 37 5 36976423 36976423 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 36976423 36976423 G A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.1414 p.D472N 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 67 0 0.00 87 18 17.14 NLRP7 0 genome.wustl.edu 37 19 55451656 55451656 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 55451656 55451656 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.615 p.H205 0.035 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase 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 NLRP7 HGNC ENSG00000167634 tier1 - - 108 0 0.00 72 58 44.62 NPAP1 0 genome.wustl.edu 37 15 24921894 24921894 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 24921894 24921894 A C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.880 p.I294L 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 102 0 0.00 62 25 28.74 NPBWR2 0 genome.wustl.edu 37 20 62737562 62737562 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 20 62737562 62737562 C G SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.623 p.W208S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 tier1 - - 47 0 0.00 34 14 29.17 NPIPB11 0 genome.wustl.edu 37 16 29393587 29393587 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 29393587 29393587 A C SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative missense c.2666 p.L889R 0.007 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 tier1 - - 72 0 0.00 57 42 42.42 NPY2R 0 genome.wustl.edu 37 4 156136045 156136045 + Silent SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 156136045 156136045 T G SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known silent c.954 p.T318 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 tier1 - - 92 0 0.00 66 18 21.43 NRK 0 genome.wustl.edu 37 X 105178266 105178266 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 105178266 105178266 A C SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.3332 p.N1111T 0.002 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 - - 31 0 0.00 31 17 35.42 NT5C3AP1 0 genome.wustl.edu 37 4 118496417 118496417 + RNA SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 118496417 118496417 T G SNP NT5C3AP1 ENST00000441170 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors NT5C3AP1 HGNC ENSG00000213492 tier1 - - 33 0 0.00 34 23 40.35 NTRK3 0 genome.wustl.edu 37 15 88522553 88522553 + RNA SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 88522553 88522553 A C SNP NTRK3 ENST00000558306 human ensembl 74_37 -1 putative rna NULL NULL 0.996 - - - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 75 0 0.00 75 12 13.79 NTRK3 0 genome.wustl.edu 37 15 88726700 88726700 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 88726700 88726700 A G SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.344 p.L115P 0.999 prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 169 0 0.00 144 17 10.56 OR10J1 0 genome.wustl.edu 37 1 159410360 159410360 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 159410360 159410360 A T SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.812 p.K271M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 tier1 - - 79 0 0.00 90 15 14.29 OR10J1 0 genome.wustl.edu 37 1 159410456 159410456 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 159410456 159410456 G C SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.908 p.R303T 0.989 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 tier1 - - 71 0 0.00 61 31 33.70 OR10R2 0 genome.wustl.edu 37 1 158450616 158450616 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 158450616 158450616 G T SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.949 p.V317F 0.997 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 tier1 - - 57 0 0.00 54 12 18.18 OR11H1 0 genome.wustl.edu 37 22 16449566 16449566 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 22 16449566 16449566 T G SNP OR11H1 ENST00000252835 human ensembl 74_37 -1 known missense c.239 p.N80T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 tier1 - - 42 0 0.00 33 9 21.43 OR13C9 0 genome.wustl.edu 37 9 107379910 107379910 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 9 107379910 107379910 G A SNP OR13C9 ENST00000259362 human ensembl 74_37 -1 known silent c.576 p.I192 0.997 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 OR13C9 HGNC ENSG00000136839 tier1 - - 88 0 0.00 103 10 8.85 OR14C36 0 genome.wustl.edu 37 1 248512207 248512207 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 248512207 248512207 T G SNP OR14C36 ENST00000317861 human ensembl 74_37 +1 known missense c.131 p.V44G 0.001 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 OR14C36 HGNC ENSG00000177174 tier1 - - 91 0 0.00 68 32 32.00 OR1D2 0 genome.wustl.edu 37 17 2996125 2996125 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 2996125 2996125 G T SNP OR1D2 ENST00000331459 human ensembl 74_37 -1 known missense c.166 p.H56N 0.985 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 OR1D2 HGNC ENSG00000184166 tier1 - - 157 0 0.00 95 22 18.80 OR2T33 0 genome.wustl.edu 37 1 248436942 248436942 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 248436942 248436942 A C SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.175 p.F59V 0.606 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 OR2T33 HGNC ENSG00000177212 tier1 - - 99 0 0.00 94 22 18.80 OR2W3 0 genome.wustl.edu 37 1 248059040 248059040 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 248059040 248059040 T G SNP OR2W3 ENST00000360358 human ensembl 74_37 +1 known missense c.152 p.L51R 0.254 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W3 HGNC ENSG00000238243 tier1 - - 191 0 0.00 117 42 26.09 OR4A16 0 genome.wustl.edu 37 11 55110950 55110950 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 55110950 55110950 T C SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known silent c.274 p.L92 0.599 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 OR4A16 HGNC ENSG00000181961 tier1 - - 167 0 0.00 232 25 9.69 OR4C3 0 genome.wustl.edu 37 11 48346988 48346988 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 48346988 48346988 T G SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known missense c.496 p.C166G 0.895 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 OR4C3 HGNC ENSG00000176547 tier1 - - 151 0 0.00 176 11 5.88 OR4K17 0 genome.wustl.edu 37 14 20586464 20586464 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 20586464 20586464 A C SNP OR4K17 ENST00000315543 human ensembl 74_37 +1 known missense c.899 p.K300T 0.012 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC ENSG00000176230 tier1 - - 28 0 0.00 27 9 25.00 OR51A7 0 genome.wustl.edu 37 11 4929177 4929177 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 4929177 4929177 A G SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.578 p.K193R 0.162 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 tier1 - - 88 0 0.00 75 26 25.74 OR51F1 0 genome.wustl.edu 37 11 4790663 4790663 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 4790663 4790663 A G SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.506 p.L169P 0.102 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 tier1 - - 79 0 0.00 87 25 22.32 OR52D1 0 genome.wustl.edu 37 11 5509993 5509993 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 5509993 5509993 G A SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known silent c.57 p.G19 0.789 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 tier1 - - 56 0 0.00 96 13 11.93 OR5B17 0 genome.wustl.edu 37 11 58125914 58125914 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 58125914 58125914 A C SNP OR5B17 ENST00000357377 human ensembl 74_37 -1 known missense c.629 p.L210R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B17 HGNC ENSG00000197786 tier1 - - 41 0 0.00 41 13 24.07 OR5M8 0 genome.wustl.edu 37 11 56258403 56258403 + Silent SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 56258403 56258403 A G SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known silent c.444 p.Y148 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 tier1 - - 77 0 0.00 108 23 17.56 OR8G5 0 genome.wustl.edu 37 11 124134825 124134825 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 124134825 124134825 A G SNP OR8G5 ENST00000524943 human ensembl 74_37 +1 known missense c.103 p.R35G 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G5 HGNC ENSG00000255298 tier1 - - 32 0 0.00 36 13 26.53 ORM2 0 genome.wustl.edu 37 9 117092225 117092225 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 9 117092225 117092225 C G SNP ORM2 ENST00000431067 human ensembl 74_37 +1 known missense c.41 p.P14R 0.125 pfam_ApoM,pirsf_A1A_glycop pfam_Lipocln_cytosolic_FA-bd_dom,pfam_ApoM,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop - no_errors ORM2 HGNC ENSG00000228278 tier1 - - 20 0 0.00 20 5 20.00 PAX6 0 genome.wustl.edu 37 11 31815215 31815215 + Nonsense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 31815215 31815215 G A SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known nonsense c.943 p.Q315* 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 tier1 - - 147 0 0.00 194 22 10.19 PCDHGA12 0 genome.wustl.edu 37 5 140811804 140811804 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 140811804 140811804 A C SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1478 p.E493A 0.663 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 tier1 - - 71 0 0.00 36 35 49.30 PCLO 0 genome.wustl.edu 37 7 82546096 82546096 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 82546096 82546096 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11206 p.T3736P 0.171 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 tier1 - - 95 0 0.00 146 11 7.01 PCLO 0 genome.wustl.edu 37 7 82582532 82582532 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 82582532 82582532 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.7737 p.T2579 0.519 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 tier1 - - 123 0 0.00 214 21 8.94 PDE1C 0 genome.wustl.edu 37 7 31918791 31918791 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 31918791 31918791 C T SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.243 p.R81 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 tier1 - - 40 0 0.00 30 7 18.92 PGBD1 0 genome.wustl.edu 37 6 28265715 28265715 + Silent SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 28265715 28265715 A G SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known silent c.816 p.Q272 1.000 superfamily_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 tier1 - - 48 0 0.00 65 25 27.78 PLA2G7 0 genome.wustl.edu 37 6 46684165 46684165 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 46684165 46684165 A C SNP PLA2G7 ENST00000274793 human ensembl 74_37 -1 known missense c.332 p.L111R 1.000 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote - no_errors PLA2G7 HGNC ENSG00000146070 tier1 - - 70 0 0.00 114 21 15.56 PLCD1 0 genome.wustl.edu 37 3 38051232 38051232 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 38051232 38051232 C T SNP PLCD1 ENST00000463876 human ensembl 74_37 -1 known missense c.1421 p.G474D 0.031 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 tier1 - - 61 0 0.00 28 9 24.32 PLEKHG3 0 genome.wustl.edu 37 14 65194627 65194627 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 65194627 65194627 A G SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.278 p.Y93C 1.000 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 tier1 - - 32 0 0.00 19 6 24.00 PLEKHG5 0 genome.wustl.edu 37 1 6536054 6536054 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 6536054 6536054 G A SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.323 p.P108L 0.997 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 tier1 - - 100 0 0.00 69 15 17.86 POLR3A 0 genome.wustl.edu 37 10 79737272 79737272 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 10 79737272 79737272 G A SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known silent c.4137 p.F1379 1.000 NULL pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 tier1 - - 142 0 0.00 173 27 13.50 POM121L12 0 genome.wustl.edu 37 7 53103843 53103843 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 53103843 53103843 C A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.479 p.P160H 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 tier1 - - 44 0 0.00 35 5 12.50 PON1 0 genome.wustl.edu 37 7 94944740 94944740 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 94944740 94944740 C T SNP PON1 ENST00000222381 human ensembl 74_37 -1 known missense c.264 p.M88I 1.000 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 tier1 - - 61 0 0.00 52 17 24.64 PPFIA4 0 genome.wustl.edu 37 1 203013186 203013186 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 203013186 203013186 A C SNP PPFIA4 ENST00000367240 human ensembl 74_37 +1 novel missense c.464 p.K155T 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 tier1 - - 56 0 0.00 27 18 40.00 PPP1R3A 0 genome.wustl.edu 37 7 113519443 113519443 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 113519443 113519443 T G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1704 p.E568D 0.005 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 77 0 0.00 76 15 16.48 PPP1R3A 0 genome.wustl.edu 37 7 113519986 113519986 + Silent SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 113519986 113519986 A G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known silent c.1161 p.D387 0.004 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 136 0 0.00 105 46 30.46 PREX2 0 genome.wustl.edu 37 8 69028132 69028132 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 69028132 69028132 T C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.3291 p.S1097 0.979 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 90 0 0.00 87 43 33.08 PSMB11 0 genome.wustl.edu 37 14 23511449 23511449 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 23511449 23511449 T A SNP PSMB11 ENST00000408907 human ensembl 74_37 +1 known missense c.15 p.D5E 1.000 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 tier1 - - 162 0 0.00 114 37 24.50 PSPC1 0 genome.wustl.edu 37 13 20279875 20279875 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 20279875 20279875 C T SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known missense c.1313 p.G438D 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 tier1 - - 64 0 0.00 62 11 15.07 PTBP2 0 genome.wustl.edu 37 1 97278449 97278451 + In_Frame_Del DEL TCC TCC - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 97278449 97278451 TCC - DEL PTBP2 ENST00000394184 human ensembl 74_37 +1 known in_frame_del c.1401_1403 p.P469in_frame_del 0.999:1.000:1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP2 HGNC ENSG00000117569 tier1 51 0 0.00 49 3 5.77 PTPRC 0 genome.wustl.edu 37 1 198678922 198678922 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 198678922 198678922 C T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.1140 p.N380 0.000 pirsf_Leukocyte_common_ag pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 rs200643724 - 92 0 0.00 63 24 27.59 PUSL1 0 genome.wustl.edu 37 1 1244340 1244341 + Frame_Shift_Ins INS - - A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 1244340 1244341 - A INS PUSL1 ENST00000379031 human ensembl 74_37 +1 known frame_shift_ins c.123_124 p.N41fs 0.768:0.814 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA - no_errors PUSL1 HGNC ENSG00000169972 tier1 26 0 0.00 6 2 25.00 RAPGEF3 0 genome.wustl.edu 37 12 48143298 48143298 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 48143298 48143298 C T SNP RAPGEF3 ENST00000389212 human ensembl 74_37 -1 known missense c.916 p.E306K 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC ENSG00000079337 tier1 - - 66 0 0.00 36 15 29.41 RBP3 0 genome.wustl.edu 37 10 48388115 48388115 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 10 48388115 48388115 G T SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.2763 p.S921R 0.027 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 tier1 - - 107 0 0.00 82 10 10.87 REPS1 0 genome.wustl.edu 37 6 139234026 139234026 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 139234026 139234026 G A SNP REPS1 ENST00000450536 human ensembl 74_37 -1 known missense c.1847 p.T616I 1.000 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 tier1 - - 50 0 0.00 31 12 27.91 RFC5 0 genome.wustl.edu 37 12 118467584 118467584 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 118467584 118467584 C G SNP RFC5 ENST00000454402 human ensembl 74_37 +1 known missense c.880 p.P294A 1.000 pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC5 HGNC ENSG00000111445 tier1 - - 101 0 0.00 69 15 17.86 RGS18 0 genome.wustl.edu 37 1 192127860 192127860 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 192127860 192127860 A C SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known missense c.93 p.E31D 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 tier1 - - 53 0 0.00 36 17 32.08 RNF207 0 genome.wustl.edu 37 1 6278375 6278375 + Nonsense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 6278375 6278375 C G SNP RNF207 ENST00000377939 human ensembl 74_37 +1 novel nonsense c.1679 p.S560* 0.000 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 tier1 - - 43 0 0.00 24 10 29.41 ROBO1 0 genome.wustl.edu 37 3 78734932 78734932 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 78734932 78734932 T G SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.1306 p.S436R 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 tier1 - - 28 0 0.00 14 5 26.32 ROCK2 0 genome.wustl.edu 37 2 11355523 11355523 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 11355523 11355523 T A SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known missense c.1613 p.D538V 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 tier1 - - 27 0 0.00 23 8 25.81 RSRC1 0 genome.wustl.edu 37 3 157841666 157841666 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 157841666 157841666 G C SNP RSRC1 ENST00000295930 human ensembl 74_37 +1 known missense c.206 p.R69P 0.999 NULL NULL - no_errors RSRC1 HGNC ENSG00000174891 tier1 - - 80 0 0.00 41 33 44.59 SACS 0 genome.wustl.edu 37 13 23911932 23911932 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 23911932 23911932 T G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.6083 p.E2028A 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 38 0 0.00 50 11 18.03 SALL1 0 genome.wustl.edu 37 16 51175812 51175812 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 51175812 51175812 T G SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.321 p.Q107H 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 147 0 0.00 100 38 27.34 SAMD9 0 genome.wustl.edu 37 7 92733226 92733226 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 92733226 92733226 T G SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.2185 p.S729R 0.038 superfamily_P-loop_NTPase pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 - - 153 0 0.00 238 55 18.77 SARS 0 genome.wustl.edu 37 1 109774213 109774213 + RNA SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 109774213 109774213 C G SNP SARS ENST00000471705 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SARS HGNC ENSG00000031698 tier1 - - 76 0 0.00 65 9 12.16 SCG2 0 genome.wustl.edu 37 2 224463855 224463855 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 224463855 224463855 T G SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.146 p.K49T 0.002 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 tier1 - - 75 0 0.00 78 11 12.36 SCN11A 0 genome.wustl.edu 37 3 38913121 38913121 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 38913121 38913121 A C SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.3574 p.F1192V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 38 0 0.00 24 17 41.46 SCN9A 0 genome.wustl.edu 37 2 167134735 167134735 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 167134735 167134735 A T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.2435 p.F812Y 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 32 0 0.00 35 8 18.60 SELPLG 0 genome.wustl.edu 37 12 109017479 109017479 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 109017479 109017479 T G SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known missense c.605 p.Q202P 0.000 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 tier1 - - 129 0 0.00 72 34 31.78 SF3B2 0 genome.wustl.edu 37 11 65828121 65828121 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 65828121 65828121 C T SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known silent c.1698 p.I566 1.000 pfam_DUF382 pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 tier1 - - 77 0 0.00 83 18 17.82 SHB 0 genome.wustl.edu 37 9 38068576 38068576 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 9 38068576 38068576 G A SNP SHB ENST00000377707 human ensembl 74_37 -1 known missense c.67 p.P23S 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHB HGNC ENSG00000107338 tier1 - - 24 0 0.00 20 11 35.48 SHROOM4 0 genome.wustl.edu 37 X 50377495 50377495 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 50377495 50377495 T G SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.1578 p.Q526H 0.966 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 tier1 - - 41 0 0.00 29 30 50.85 SIGLEC11 0 genome.wustl.edu 37 19 50455161 50455161 + Frame_Shift_Del DEL C C - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 50455161 50455161 C - DEL SIGLEC11 ENST00000447370 human ensembl 74_37 -1 known frame_shift_del c.1817 p.G606fs 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC11 HGNC ENSG00000161640 tier1 26 0 0.00 22 2 8.33 SIPA1L1 0 genome.wustl.edu 37 14 72117055 72117055 + Frame_Shift_Del DEL A A - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 72117055 72117055 A - DEL SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known frame_shift_del c.1822 p.N608fs 1.000 pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 175 0 0.00 73 99 57.56 SLC17A3 0 genome.wustl.edu 37 6 25862490 25862490 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 25862490 25862490 T G SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known missense c.274 p.S92R 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 tier1 - - 41 0 0.00 69 17 19.54 SLC6A18 0 genome.wustl.edu 37 5 1242923 1242923 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 1242923 1242923 A C SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known missense c.1076 p.K359T 0.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 tier1 - - 117 0 0.00 134 13 8.84 SLC9C1 0 genome.wustl.edu 37 3 112005610 112005610 + Frame_Shift_Del DEL A A - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 112005610 112005610 A - DEL SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_del c.29 p.F10fs 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 tier1 21 0 0.00 24 2 7.69 SLCO1B3 0 genome.wustl.edu 37 12 21242987 21242987 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 21242987 21242987 T G SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.2194 p.L732V 0.018 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 14 0 0.00 15 5 25.00 SLCO1B7 0 genome.wustl.edu 37 12 21172239 21172239 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 21172239 21172239 A C SNP SLCO1B7 ENST00000421593 human ensembl 74_37 +1 known missense c.143 p.K48T 0.227 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 24 0 0.00 25 13 34.21 SLCO6A1 0 genome.wustl.edu 37 5 101748764 101748764 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 101748764 101748764 C G SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.1556 p.R519T 0.999 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 35 0 0.00 11 10 47.62 SLITRK1 0 genome.wustl.edu 37 13 84455563 84455563 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 84455563 84455563 T G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.80 p.K27T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 92 0 0.00 103 12 10.34 SNIP1 0 genome.wustl.edu 37 1 38005986 38005986 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 38005986 38005986 A G SNP SNIP1 ENST00000296215 human ensembl 74_37 -1 known missense c.698 p.L233P 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC ENSG00000163877 tier1 - - 81 0 0.00 74 12 13.95 SNORD109A 0 genome.wustl.edu 37 15 25287217 25287217 + RNA SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 25287217 25287217 A T SNP SNORD109A ENST00000604135 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors SNORD109A HGNC ENSG00000270246 tier1 - - 29 0 0.00 20 5 20.00 SNORD83B 0 genome.wustl.edu 37 22 39709871 39709871 + RNA SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 22 39709871 39709871 C T SNP SNORD83B ENST00000386745 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD83B HGNC ENSG00000209480 tier1 - - 63 0 0.00 35 8 18.60 SORL1 0 genome.wustl.edu 37 11 121428044 121428044 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 121428044 121428044 T A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.2593 p.F865I 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt 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 tier1 - - 123 0 0.00 124 19 13.29 SPRED3 0 genome.wustl.edu 37 19 38881012 38881012 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 38881012 38881012 G A SNP SPRED3 ENST00000338502 human ensembl 74_37 +1 known missense c.70 p.G24R 1.000 smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 tier1 - - 24 0 0.00 27 9 25.00 SRD5A3 0 genome.wustl.edu 37 4 56233877 56233877 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 56233877 56233877 A G SNP SRD5A3 ENST00000264228 human ensembl 74_37 +1 known missense c.685 p.K229E 1.000 pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A3 HGNC ENSG00000128039 66 0 0.00 72 4 5.26 SSPO 0 genome.wustl.edu 37 7 149481149 149481149 + RNA SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 149481149 149481149 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 19 0 0.00 13 7 35.00 SSPO 0 genome.wustl.edu 37 7 149485458 149485459 + RNA INS - - C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 149485458 149485459 - C INS SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 61 0 0.00 34 13 27.66 SSUH2 0 genome.wustl.edu 37 3 8671409 8671409 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 8671409 8671409 A T SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.529 p.C177S 1.000 superfamily_HSP_DnaJ_Cys-rich_dom superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 tier1 - - 95 0 0.00 66 16 19.51 ST3GAL6 0 genome.wustl.edu 37 3 98507289 98507289 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 98507289 98507289 A C SNP ST3GAL6 ENST00000394162 human ensembl 74_37 +1 known missense c.738 p.K246N 0.059 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 tier1 - - 78 0 0.00 52 7 11.67 SYNE1 0 genome.wustl.edu 37 6 152542125 152542125 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 152542125 152542125 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.21713 p.L7238R 0.987 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 tier1 - - 83 0 0.00 73 8 9.88 SYNRG 0 genome.wustl.edu 37 17 35902333 35902333 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 35902333 35902333 T A SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.2943 p.E981D 0.375 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 tier1 - - 96 0 0.00 56 33 37.08 SYT7 0 genome.wustl.edu 37 11 61295432 61295432 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 61295432 61295432 G A SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known missense c.577 p.R193W 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 tier1 - - 105 0 0.00 82 25 23.36 TDRD6 0 genome.wustl.edu 37 6 46660845 46660845 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 46660845 46660845 A C SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.4980 p.E1660D 0.149 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 52 0 0.00 73 29 28.43 TENC1 0 genome.wustl.edu 37 12 53448974 53448974 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 53448974 53448974 T G SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known missense c.557 p.F186C 1.000 pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 tier1 - - 86 0 0.00 64 19 22.89 TET2 0 genome.wustl.edu 37 4 106155509 106155509 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 106155509 106155509 G C SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.410 p.S137T 0.163 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 37 0 0.00 20 4 16.67 TFAP2B 0 genome.wustl.edu 37 6 50805705 50805705 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 50805705 50805705 G A SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known missense c.866 p.G289E 1.000 pfam_TF_AP2_C,prints_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 tier1 - - 109 0 0.00 122 31 20.26 THSD7B 0 genome.wustl.edu 37 2 138378192 138378192 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 138378192 138378192 A C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.3704 p.K1235T 0.999 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 110 0 0.00 73 21 22.34 TIGD5 0 genome.wustl.edu 37 8 144681750 144681750 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 144681750 144681750 G A SNP TIGD5 ENST00000504548 human ensembl 74_37 +1 known silent c.1677 p.P559 0.001 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD5 HGNC ENSG00000179886 tier1 - - 16 0 0.00 8 7 46.67 TLE2 0 genome.wustl.edu 37 19 3006519 3006519 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 3006519 3006519 C T SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.1399 p.G467S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 21 0 0.00 16 2 11.11 TNFRSF10A 0 genome.wustl.edu 37 8 23057399 23057399 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 23057399 23057399 C T SNP TNFRSF10A ENST00000221132 human ensembl 74_37 -1 known silent c.831 p.R277 0.004 pirsf_TNFR_10 pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10A HGNC ENSG00000104689 tier1 - - 162 0 0.00 159 16 9.14 TNFRSF11B 0 genome.wustl.edu 37 8 119941046 119941046 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 119941046 119941046 G C SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known missense c.523 p.Q175E 0.063 pirsf_TNFR_11B,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11 pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 tier1 - - 128 0 0.00 113 21 15.67 TOPORS 0 genome.wustl.edu 37 9 32542999 32543002 + Frame_Shift_Del DEL CTCA CTCA - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 CTCA CTCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 9 32542999 32543002 CTCA - DEL TOPORS ENST00000360538 human ensembl 74_37 -1 known frame_shift_del c.1524_1521 p.Y507fs 0.896:0.888:0.884:0.770 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 tier1 73 0 0.00 67 31 31.63 TP53 0 genome.wustl.edu 37 17 7578453 7578453 + Silent SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 7578453 7578453 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known silent c.477 p.A159 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 tier1 - - 82 0 0.00 29 6 17.14 TPTE2 0 genome.wustl.edu 37 13 20041416 20041416 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 20041416 20041416 A C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.461 p.V154G 0.024 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 tier1 - - 36 0 0.00 47 19 28.79 TRAF3IP1 0 genome.wustl.edu 37 2 239306265 239306265 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 239306265 239306265 C A SNP TRAF3IP1 ENST00000373327 human ensembl 74_37 +1 known missense c.1855 p.Q619K 1.000 NULL NULL - no_errors TRAF3IP1 HGNC ENSG00000204104 tier1 - - 59 0 0.00 51 21 29.17 TRAK1 0 genome.wustl.edu 37 3 42240698 42240698 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 42240698 42240698 G A SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known silent c.969 p.T323 0.203 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 tier1 - - 54 0 0.00 43 8 15.69 TRIM55 0 genome.wustl.edu 37 8 67067892 67067892 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 67067892 67067892 T G SNP TRIM55 ENST00000276573 human ensembl 74_37 +1 known missense c.1559 p.L520R 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 tier1 - - 64 0 0.00 44 15 25.42 TRPC5 0 genome.wustl.edu 37 X 111195328 111195328 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 111195328 111195328 T G SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.321 p.E107D 0.997 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 tier1 - - 97 0 0.00 74 44 37.29 TRPC6 0 genome.wustl.edu 37 11 101375273 101375273 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 101375273 101375273 T G SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.427 p.N143H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 tier1 - - 60 0 0.00 60 47 43.93 TTC8 0 genome.wustl.edu 37 14 89341376 89341376 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 89341376 89341376 G A SNP TTC8 ENST00000338104 human ensembl 74_37 +1 known missense c.1402 p.A468T 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 tier1 - - 59 0 0.00 45 13 22.41 TTN 0 genome.wustl.edu 37 2 179423360 179423360 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 179423360 179423360 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.79122 p.K26374N 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 17 0 0.00 17 6 26.09 TTN 0 genome.wustl.edu 37 2 179484726 179484726 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 179484726 179484726 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.38714 p.L12905R 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 51 0 0.00 47 9 16.07 TTN 0 genome.wustl.edu 37 2 179595869 179595869 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 179595869 179595869 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.13791 p.T4597 0.894 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 146 0 0.00 123 10 7.46 TTN 0 genome.wustl.edu 37 2 179641249 179641249 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 179641249 179641249 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5342 p.N1781T 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 89 0 0.00 77 12 13.48 TYR 0 genome.wustl.edu 37 11 88911926 88911926 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 88911926 88911926 T G SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.805 p.F269V 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 tier1 - - 57 0 0.00 58 21 26.58 UBQLN3 0 genome.wustl.edu 37 11 5529715 5529715 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 5529715 5529715 A C SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known silent c.1074 p.T358 0.008 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 tier1 - - 137 0 0.00 129 49 27.53 USH2A 0 genome.wustl.edu 37 1 216373317 216373317 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 216373317 216373317 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3463 p.S1155R 0.684 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 96 0 0.00 92 36 28.12 USP40 0 genome.wustl.edu 37 2 234468456 234468456 + Splice_Site SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 234468456 234468456 C A SNP USP40 ENST00000450966 human ensembl 74_37 -1 known splice_site c.417+1 e3+1 1.000 - - - no_errors USP40 HGNC ENSG00000085982 10 0 0.00 12 4 25.00 VDR 0 genome.wustl.edu 37 12 48272869 48272869 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 48272869 48272869 G A SNP VDR ENST00000229022 human ensembl 74_37 -1 known silent c.28 p.L10 0.517 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC ENSG00000111424 tier1 - - 92 0 0.00 50 22 30.14 VGLL1 0 genome.wustl.edu 37 X 135632901 135632901 + RNA SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 135632901 135632901 A C SNP VGLL1 ENST00000470358 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VGLL1 HGNC ENSG00000102243 tier1 - - 20 0 0.00 20 6 23.08 ZCCHC5 0 genome.wustl.edu 37 X 77913702 77913702 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 77913702 77913702 T C SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known silent c.216 p.A72 0.007 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 22 0 0.00 6 9 60.00 ZEB2 0 genome.wustl.edu 37 2 145156242 145156242 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 145156242 145156242 T G SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2512 p.K838Q 0.998 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 93 0 0.00 74 16 17.78 ZFHX4 0 genome.wustl.edu 37 8 77767093 77767093 + Nonsense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 77767093 77767093 A T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known nonsense c.7936 p.K2646* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 73 0 0.00 33 39 54.17 ZFP28 0 genome.wustl.edu 37 19 57061922 57061922 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 57061922 57061922 A T SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known missense c.846 p.Q282H 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 tier1 - - 87 0 0.00 90 16 15.09 ZIM2 0 genome.wustl.edu 37 19 57286821 57286821 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 57286821 57286821 G T SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.819 p.D273E 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 tier1 - - 78 0 0.00 78 23 22.77 ZNF177 0 genome.wustl.edu 37 19 9492006 9492006 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 9492006 9492006 T C SNP ZNF177 ENST00000434737 human ensembl 74_37 +1 known silent c.999 p.T333 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF177 HGNC ENSG00000188629 tier1 - - 51 0 0.00 40 16 28.57 ZNF223 0 genome.wustl.edu 37 19 44564998 44564998 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 44564998 44564998 A C SNP ZNF223 ENST00000585552 human ensembl 74_37 +1 putative missense c.239 p.K80T 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF223 HGNC ENSG00000178386 tier1 - - 71 0 0.00 77 21 21.43 ZNF24 0 genome.wustl.edu 37 18 32920214 32920214 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 18 32920214 32920214 A C SNP ZNF24 ENST00000261332 human ensembl 74_37 -1 known missense c.401 p.L134R 0.959 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF24 HGNC ENSG00000172466 tier1 - - 121 0 0.00 102 43 29.66 ZNF251 0 genome.wustl.edu 37 8 145979604 145979604 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 145979604 145979604 C G SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known missense c.136 p.E46Q 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF251 HGNC ENSG00000198169 tier1 - - 28 0 0.00 17 16 48.48 ZNF471 0 genome.wustl.edu 37 19 57035783 57035783 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 57035783 57035783 T G SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.347 p.L116R 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ENSG00000196263 tier1 - - 44 0 0.00 36 14 28.00 ZNF559 0 genome.wustl.edu 37 19 9452564 9452564 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 9452564 9452564 T G SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known missense c.437 p.L146R 0.013 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 ZNF559 HGNC ENSG00000188321 tier1 - - 101 0 0.00 51 33 39.29 ZNF571 0 genome.wustl.edu 37 19 38057166 38057166 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 38057166 38057166 T A SNP ZNF571 ENST00000328550 human ensembl 74_37 -1 known missense c.164 p.K55M 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 tier1 - - 54 0 0.00 53 6 10.17 ZNF578 0 genome.wustl.edu 37 19 53013963 53013963 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 53013963 53013963 T G SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.329 p.I110S 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 tier1 - - 84 0 0.00 114 12 9.52 ZNF606 0 genome.wustl.edu 37 19 58490054 58490054 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 58490054 58490054 C A SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.1994 p.C665F 0.182 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 tier1 - - 61 0 0.00 68 20 22.73 ZNF683 0 genome.wustl.edu 37 1 26691179 26691179 + Silent SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 26691179 26691179 C A SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known silent c.858 p.L286 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 tier1 - - 90 0 0.00 75 18 19.35 ZNF98 0 genome.wustl.edu 37 19 22574898 22574898 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 22574898 22574898 C T SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.1139 p.C380Y 0.480 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 tier1 rs201792604 - 13 0 0.00 6 3 33.33 ZNF98 0 genome.wustl.edu 37 19 22585671 22585671 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 22585671 22585671 T G SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.173 p.K58T 0.839 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 tier1 - - 58 0 0.00 52 23 30.67 ZP4 0 genome.wustl.edu 37 1 238045830 238045830 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 238045830 238045830 T G SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.1515 p.K505N 0.000 NULL pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 tier1 - - 82 0 0.00 64 23 26.44 COL11A1 0 genome.wustl.edu 37 1 103343575 103343575 + Nonstop_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 103343575 103343575 T G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known nonstop c.5457 p.*1819Y 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 61 0 0 38 10 20.8333 AMY2B 0 genome.wustl.edu 37 1 104116967 104116967 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 104116967 104116967 T C SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.830 p.L277P 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 156 0 0 73 36 33.0275 GSTM4 0 genome.wustl.edu 37 1 110201636 110201636 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 110201636 110201636 T C SNP GSTM4 ENST00000369836 human ensembl 74_37 +1 known silent c.471 p.D157 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM4 HGNC ENSG00000168765 364 0 0 228 131 36.4903 CRNN 0 genome.wustl.edu 37 1 152382839 152382839 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 152382839 152382839 T C SNP CRNN ENST00000271835 human ensembl 74_37 -1 known missense c.719 p.Q240R 0.145 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 235 0 0 248 87 25.9701 OR10R2 0 genome.wustl.edu 37 1 158450616 158450616 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 158450616 158450616 G T SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.949 p.V317F 0.997 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 49 0 0 46 9 16.3636 OR10J1 0 genome.wustl.edu 37 1 159410360 159410360 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 159410360 159410360 A T SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.812 p.K271M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 69 0 0 81 14 14.7368 OR10J1 0 genome.wustl.edu 37 1 159410456 159410456 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 159410456 159410456 G C SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.908 p.R303T 0.989 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 69 0 0 58 28 32.5581 MRPS14 0 genome.wustl.edu 37 1 174987569 174987569 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 174987569 174987569 C A SNP MRPS14 ENST00000476371 human ensembl 74_37 -1 known missense c.189 p.L63F 1.000 NULL pfam_Ribosomal_S14 - no_errors MRPS14 HGNC ENSG00000120333 92 0 0 95 27 22.1311 ASTN1 0 genome.wustl.edu 37 1 176915236 176915236 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 176915236 176915236 A C SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.2099 p.L700R 1.000 smart_EG-like_dom superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 62 0 0 67 15 18.2927 ABL2 0 genome.wustl.edu 37 1 179077355 179077355 + Nonsense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 179077355 179077355 G C SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known nonsense c.3047 p.S1016* 0.964 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 116 0 0 125 14 10.0719 CACNA1E 0 genome.wustl.edu 37 1 181767927 181767927 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 181767927 181767927 T A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.6899 p.V2300D 0.998 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 28 0 0 29 4 12.1212 BRINP3 0 genome.wustl.edu 37 1 190067816 190067816 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 190067816 190067816 T G SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1633 p.S545R 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 81 0 0 56 24 30 RGS18 0 genome.wustl.edu 37 1 192127860 192127860 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 192127860 192127860 A C SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known missense c.93 p.E31D 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 45 0 0 30 16 34.7826 PTPRC 0 genome.wustl.edu 37 1 198678922 198678922 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 198678922 198678922 C T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.1140 p.N380 0.000 pirsf_Leukocyte_common_ag pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 79 0 0 56 22 28.2051 PPFIA4 0 genome.wustl.edu 37 1 203013186 203013186 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 203013186 203013186 A C SNP PPFIA4 ENST00000367240 human ensembl 74_37 +1 novel missense c.464 p.K155T 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 47 0 0 26 16 38.0952 ATP2B4 0 genome.wustl.edu 37 1 203669980 203669980 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 203669980 203669980 A C SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.830 p.N277T 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 39 0 0 35 14 28.5714 KCNH1 0 genome.wustl.edu 37 1 211192300 211192300 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 211192300 211192300 A G SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.857 p.L286P 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 79 0 0 54 30 35.7143 USH2A 0 genome.wustl.edu 37 1 216373317 216373317 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 216373317 216373317 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3463 p.S1155R 0.684 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 87 0 0 86 34 28.3333 KDM1A 0 genome.wustl.edu 37 1 23376959 23376959 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 23376959 23376959 T G SNP KDM1A ENST00000542151 human ensembl 74_37 +1 known missense c.657 p.I219M 1.000 pfam_SWIRM,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 87 0 0 82 15 15.4639 ZP4 0 genome.wustl.edu 37 1 238045830 238045830 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 238045830 238045830 T G SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.1515 p.K505N 0.000 NULL pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 76 0 0 62 20 24.3902 OR2W3 0 genome.wustl.edu 37 1 248059040 248059040 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 248059040 248059040 T G SNP OR2W3 ENST00000360358 human ensembl 74_37 +1 known missense c.152 p.L51R 0.254 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W3 HGNC ENSG00000238243 167 0 0 100 36 26.4706 OR2T33 0 genome.wustl.edu 37 1 248436942 248436942 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 248436942 248436942 A C SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.175 p.F59V 0.606 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 OR2T33 HGNC ENSG00000177212 93 0 0 87 20 18.6916 OR14C36 0 genome.wustl.edu 37 1 248512207 248512207 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 248512207 248512207 T G SNP OR14C36 ENST00000317861 human ensembl 74_37 +1 known missense c.131 p.V44G 0.001 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 OR14C36 HGNC ENSG00000177174 82 0 0 64 29 31.1828 ZNF683 0 genome.wustl.edu 37 1 26691179 26691179 + Silent SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 26691179 26691179 C A SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known silent c.858 p.L286 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 90 0 0 73 18 19.7802 SNIP1 0 genome.wustl.edu 37 1 38005986 38005986 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 38005986 38005986 A G SNP SNIP1 ENST00000296215 human ensembl 74_37 -1 known missense c.698 p.L233P 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC ENSG00000163877 74 0 0 64 12 15.7895 HIVEP3 0 genome.wustl.edu 37 1 42045768 42045768 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 42045768 42045768 A C SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.4701 p.P1567 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 115 0 0 73 13 15.1163 RNF207 0 genome.wustl.edu 37 1 6278375 6278375 + Nonsense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 6278375 6278375 C G SNP RNF207 ENST00000377939 human ensembl 74_37 +1 novel nonsense c.1679 p.S560* 0.000 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 36 0 0 20 9 31.0345 ANGPTL3 0 genome.wustl.edu 37 1 63070426 63070426 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 63070426 63070426 T C SNP ANGPTL3 ENST00000371129 human ensembl 74_37 +1 known silent c.1321 p.L441 0.385 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL3 HGNC ENSG00000132855 65 0 0 53 9 14.5161 PLEKHG5 0 genome.wustl.edu 37 1 6536054 6536054 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 6536054 6536054 G A SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.323 p.P108L 0.997 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 87 0 0 60 14 18.9189 LEPR 0 genome.wustl.edu 37 1 66075940 66075940 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 66075940 66075940 T C SNP LEPR ENST00000349533 human ensembl 74_37 +1 known silent c.1956 p.D652 0.011 smart_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 40 0 0 16 10 38.4615 CNN3 0 genome.wustl.edu 37 1 95363372 95363372 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 1 95363372 95363372 C T SNP CNN3 ENST00000370206 human ensembl 74_37 -1 known missense c.916 p.D306N 1.000 NULL pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC ENSG00000117519 156 0 0 101 31 23.4848 C10orf2 0 genome.wustl.edu 37 10 102749120 102749120 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 10 102749120 102749120 G A SNP C10orf2 ENST00000311916 human ensembl 74_37 +1 known missense c.1153 p.E385K 1.000 superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 88 0 0 33 30 47.619 SORCS1 0 genome.wustl.edu 37 10 108377994 108377994 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 10 108377994 108377994 A C SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.2833 p.F945V 1.000 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 48 0 0 27 4 12.9032 ACBD5 0 genome.wustl.edu 37 10 27497347 27497347 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 10 27497347 27497347 C G SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known missense c.1259 p.G420A 0.992 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 70 0 0 81 11 11.9565 RBP3 0 genome.wustl.edu 37 10 48388115 48388115 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 10 48388115 48388115 G T SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.2763 p.S921R 0.027 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 99 0 0 75 10 11.7647 POLR3A 0 genome.wustl.edu 37 10 79737272 79737272 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 10 79737272 79737272 G A SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known silent c.4137 p.F1379 1.000 NULL pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 121 0 0 153 25 14.0449 CNTN5 0 genome.wustl.edu 37 11 100064359 100064359 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 100064359 100064359 C A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.1848 p.F616L 0.900 pfam_Ig_I-set,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_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 46 0 0 59 11 15.7143 TRPC6 0 genome.wustl.edu 37 11 101375273 101375273 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 101375273 101375273 T G SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.427 p.N143H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 55 0 0 58 46 44.2308 MUC6 0 genome.wustl.edu 37 11 1017059 1017059 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 1017059 1017059 A C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.5742 p.T1914 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 901 1 0.110865 1049 82 7.25022 SORL1 0 genome.wustl.edu 37 11 121428044 121428044 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 121428044 121428044 T A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.2593 p.F865I 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt 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 103 0 0 108 15 12.1951 ARHGAP32 0 genome.wustl.edu 37 11 128840300 128840300 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 128840300 128840300 G A SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.4766 p.P1589L 0.989 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 58 0 0 73 12 14.1176 LUZP2 0 genome.wustl.edu 37 11 24750807 24750807 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 24750807 24750807 T C SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known missense c.155 p.L52P 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 65 0 0 82 12 12.766 PAX6 0 genome.wustl.edu 37 11 31815215 31815215 + Nonsense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 31815215 31815215 G A SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known nonsense c.943 p.Q315* 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 124 0 0 161 20 11.0497 OR51F1 0 genome.wustl.edu 37 11 4790663 4790663 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 4790663 4790663 A G SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.506 p.L169P 0.102 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 74 0 0 81 24 22.8571 OR4C3 0 genome.wustl.edu 37 11 48346988 48346988 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 48346988 48346988 T G SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known missense c.496 p.C166G 0.895 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 OR4C3 HGNC ENSG00000176547 145 0 0 174 11 5.94595 OR51A7 0 genome.wustl.edu 37 11 4929177 4929177 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 4929177 4929177 A G SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.578 p.K193R 0.162 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 80 0 0 71 25 26.0417 OR52D1 0 genome.wustl.edu 37 11 5509993 5509993 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 5509993 5509993 G A SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known silent c.57 p.G19 0.789 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 54 0 0 94 13 12.1495 OR4A16 0 genome.wustl.edu 37 11 55110729 55110729 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 55110729 55110729 A G SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.53 p.D18G 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 34 0 0 44 9 16.9811 OR4A16 0 genome.wustl.edu 37 11 55110950 55110950 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 55110950 55110950 T C SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known silent c.274 p.L92 0.599 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 OR4A16 HGNC ENSG00000181961 159 0 0 215 25 10.4167 UBQLN3 0 genome.wustl.edu 37 11 5529715 5529715 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 5529715 5529715 A C SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known silent c.1074 p.T358 0.008 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 121 0 0 116 46 28.3951 OR5M8 0 genome.wustl.edu 37 11 56258403 56258403 + Silent SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 56258403 56258403 A G SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known silent c.444 p.Y148 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 74 0 0 100 22 18.0328 OR5M8 0 genome.wustl.edu 37 11 56258460 56258460 + Silent SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 56258460 56258460 C A SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known silent c.387 p.L129 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 60 0 0 93 5 5.10204 OR5B17 0 genome.wustl.edu 37 11 58125914 58125914 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 58125914 58125914 A C SNP OR5B17 ENST00000357377 human ensembl 74_37 -1 known missense c.629 p.L210R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B17 HGNC ENSG00000197786 37 0 0 40 13 24.5283 SYT7 0 genome.wustl.edu 37 11 61295432 61295432 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 61295432 61295432 G A SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known missense c.577 p.R193W 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 98 0 0 79 24 23.301 CNGA4 0 genome.wustl.edu 37 11 6265440 6265440 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 6265440 6265440 A C SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.1529 p.K510T 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 62 0 0 65 4 5.7971 SF3B2 0 genome.wustl.edu 37 11 65828121 65828121 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 65828121 65828121 C T SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known silent c.1698 p.I566 1.000 pfam_DUF382 pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 73 0 0 80 18 18.3673 ARHGEF17 0 genome.wustl.edu 37 11 73020722 73020722 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 73020722 73020722 G A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.1039 p.G347S 0.806 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 89 0 0 69 18 20.6897 DLG2 0 genome.wustl.edu 37 11 84028157 84028157 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 84028157 84028157 C G SNP DLG2 ENST00000280241 human ensembl 74_37 -1 known missense c.32 p.C11S 1.000 pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 150 0 0 171 21 10.9375 TYR 0 genome.wustl.edu 37 11 88911926 88911926 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 88911926 88911926 T G SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.805 p.F269V 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 48 0 0 50 20 28.5714 MTNR1B 0 genome.wustl.edu 37 11 92714994 92714994 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 11 92714994 92714994 C T SNP MTNR1B ENST00000257068 human ensembl 74_37 +1 known missense c.605 p.A202V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 42 0 0 56 10 15.1515 SELPLG 0 genome.wustl.edu 37 12 109017479 109017479 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 109017479 109017479 T G SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known missense c.605 p.Q202P 0.000 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 114 0 0 65 32 32.9897 CCDC60 0 genome.wustl.edu 37 12 119960742 119960742 + Splice_Site SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 119960742 119960742 A G SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known splice_site c.1041-2 e10-2 1.000 - - - no_errors CCDC60 HGNC ENSG00000183273 138 0 0 158 31 16.4021 SLCO1B7 0 genome.wustl.edu 37 12 21172239 21172239 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 21172239 21172239 A C SNP SLCO1B7 ENST00000421593 human ensembl 74_37 +1 known missense c.143 p.K48T 0.227 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 23 0 0 24 13 35.1351 RAPGEF3 0 genome.wustl.edu 37 12 48143298 48143298 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 48143298 48143298 C T SNP RAPGEF3 ENST00000389212 human ensembl 74_37 -1 known missense c.916 p.E306K 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC ENSG00000079337 55 0 0 31 13 29.5455 VDR 0 genome.wustl.edu 37 12 48272869 48272869 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 48272869 48272869 G A SNP VDR ENST00000229022 human ensembl 74_37 -1 known silent c.28 p.L10 0.517 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC ENSG00000111424 78 0 0 44 19 30.1587 KRT74 0 genome.wustl.edu 37 12 52962020 52962020 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 52962020 52962020 T A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known missense c.1288 p.S430C 1.000 pfam_IF pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 85 0 0 51 11 17.7419 TENC1 0 genome.wustl.edu 37 12 53448974 53448974 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 53448974 53448974 T G SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known missense c.557 p.F186C 1.000 pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 73 0 0 50 16 24.2424 GLS2 0 genome.wustl.edu 37 12 56868376 56868376 + Silent SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 56868376 56868376 G C SNP GLS2 ENST00000311966 human ensembl 74_37 -1 known silent c.1176 p.L392 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 99 0 0 81 11 11.9565 B4GALNT1 0 genome.wustl.edu 37 12 58024985 58024985 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 58024985 58024985 C G SNP B4GALNT1 ENST00000552219 human ensembl 74_37 -1 known missense c.271 p.E91Q 0.999 NULL NULL - no_errors B4GALNT1 HGNC ENSG00000135454 293 0 0 191 35 15.4867 LPAR5 0 genome.wustl.edu 37 12 6729980 6729980 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 6729980 6729980 C T SNP LPAR5 ENST00000329858 human ensembl 74_37 -1 known silent c.435 p.V145 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR5 HGNC ENSG00000184574 8 0 0 17 5 22.7273 MYF5 0 genome.wustl.edu 37 12 81111069 81111069 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 81111069 81111069 A T SNP MYF5 ENST00000228644 human ensembl 74_37 +1 known missense c.227 p.K76M 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF5 HGNC ENSG00000111049 46 0 0 40 9 18.3673 A2M 0 genome.wustl.edu 37 12 9251209 9251209 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 12 9251209 9251209 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.1845 p.A615 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 11 0 0 2 7 77.7778 MYO16 0 genome.wustl.edu 37 13 109535435 109535435 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 109535435 109535435 G C SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.1388 p.G463A 0.997 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 121 0 0 202 19 8.59729 MYO16 0 genome.wustl.edu 37 13 109777573 109777573 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 109777573 109777573 A C SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.3583 p.T1195P 0.995 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 26 0 0 37 13 26 TPTE2 0 genome.wustl.edu 37 13 20041416 20041416 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 20041416 20041416 A C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.461 p.V154G 0.024 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 33 0 0 43 17 28.3333 PSPC1 0 genome.wustl.edu 37 13 20279875 20279875 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 20279875 20279875 C T SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known missense c.1313 p.G438D 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 60 0 0 57 11 16.1765 SACS 0 genome.wustl.edu 37 13 23911932 23911932 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 23911932 23911932 T G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.6083 p.E2028A 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 35 0 0 46 9 16.3636 TPTE2P6 0 genome.wustl.edu 37 13 25168432 25168432 + RNA SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 25168432 25168432 T C SNP TPTE2P6 ENST00000440905 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TPTE2P6 HGNC ENSG00000205822 20 0 0 19 3 13.6364 FRY 0 genome.wustl.edu 37 13 32705857 32705857 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 32705857 32705857 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.765 p.R255 0.999 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 52 0 0 83 10 10.7527 NBEA 0 genome.wustl.edu 37 13 36141113 36141113 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 36141113 36141113 T G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6994 p.L2332V 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 47 0 0 84 23 21.4953 DCLK1 0 genome.wustl.edu 37 13 36445384 36445384 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 36445384 36445384 T G SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.917 p.K306T 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 102 0 0 129 7 5.14706 FREM2 0 genome.wustl.edu 37 13 39338466 39338466 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 39338466 39338466 T G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.5289 p.N1763K 0.996 smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 36 0 0 71 9 11.25 SLITRK1 0 genome.wustl.edu 37 13 84455563 84455563 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 13 84455563 84455563 T G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.80 p.K27T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 84 0 0 96 12 11.1111 OR4K17 0 genome.wustl.edu 37 14 20586464 20586464 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 20586464 20586464 A C SNP OR4K17 ENST00000315543 human ensembl 74_37 +1 known missense c.899 p.K300T 0.012 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC ENSG00000176230 28 0 0 27 9 25 PSMB11 0 genome.wustl.edu 37 14 23511449 23511449 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 23511449 23511449 T A SNP PSMB11 ENST00000408907 human ensembl 74_37 +1 known missense c.15 p.D5E 1.000 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 140 0 0 98 29 22.8346 MDGA2 0 genome.wustl.edu 37 14 47601018 47601018 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 47601018 47601018 A C SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.824 p.L275R 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 37 0 0 20 14 41.1765 BMP4 0 genome.wustl.edu 37 14 54417601 54417601 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 54417601 54417601 G C SNP BMP4 ENST00000245451 human ensembl 74_37 -1 known missense c.376 p.L126V 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 73 0 0 41 16 28.0702 PLEKHG3 0 genome.wustl.edu 37 14 65194627 65194627 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 65194627 65194627 A G SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.278 p.Y93C 1.000 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 31 0 0 18 6 25 EIF2B2 0 genome.wustl.edu 37 14 75471487 75471487 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 75471487 75471487 T C SNP EIF2B2 ENST00000266126 human ensembl 74_37 +1 known missense c.481 p.S161P 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B2 HGNC ENSG00000119718 63 0 0 27 47 63.5135 IRF2BPL 0 genome.wustl.edu 37 14 77491778 77491778 + Silent SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 77491778 77491778 C G SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known silent c.2358 p.G786 1.000 NULL pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 96 0 0 67 13 16.25 TTC8 0 genome.wustl.edu 37 14 89341376 89341376 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 89341376 89341376 G A SNP TTC8 ENST00000338104 human ensembl 74_37 +1 known missense c.1402 p.A468T 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 47 0 0 40 11 21.5686 OR4N4 0 genome.wustl.edu 37 15 22382668 22382668 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 22382668 22382668 T G SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.196 p.L66V 0.963 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 OR4N4 HGNC ENSG00000183706 312 0 0 327 32 8.91365 MKRN3 0 genome.wustl.edu 37 15 23812089 23812089 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 23812089 23812089 T G SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.1160 p.L387R 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 72 0 0 75 29 27.8846 NPAP1 0 genome.wustl.edu 37 15 24921894 24921894 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 24921894 24921894 A C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.880 p.I294L 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 88 0 0 53 22 29.3333 EMC7 0 genome.wustl.edu 37 15 34393934 34393934 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 34393934 34393934 C T SNP EMC7 ENST00000256545 human ensembl 74_37 -1 known missense c.107 p.G36E 0.999 NULL pfam_DUF2012,superfamily_Carb-bd-like_fold - no_errors EMC7 HGNC ENSG00000134153 177 0 0 174 29 14.2857 NEDD4 0 genome.wustl.edu 37 15 56152909 56152909 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 56152909 56152909 G A SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.1999 p.R667W 0.871 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 81 0 0 44 48 52.1739 CILP 0 genome.wustl.edu 37 15 65491282 65491282 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 65491282 65491282 G A SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.1342 p.R448C 0.889 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 51 0 0 51 11 17.7419 NTRK3 0 genome.wustl.edu 37 15 88726700 88726700 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 88726700 88726700 A G SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.344 p.L115P 0.999 prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 141 0 0 123 15 10.8696 ACAN 0 genome.wustl.edu 37 15 89400067 89400067 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 15 89400067 89400067 A C SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.4251 p.E1417D 0.001 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 208 0 0 220 65 22.807 DNAH3 0 genome.wustl.edu 37 16 21053505 21053505 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 21053505 21053505 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.4482 p.V1494 0.588 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 74 0 0 58 35 37.6344 PLK1 0 genome.wustl.edu 37 16 23700896 23700896 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 23700896 23700896 G T SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known missense c.1507 p.D503Y 0.997 NULL pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 48 0 0 39 6 13.3333 ATP6V0C 0 genome.wustl.edu 37 16 2569258 2569258 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 2569258 2569258 G A SNP ATP6V0C ENST00000330398 human ensembl 74_37 +1 known missense c.119 p.G40D 1.000 pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu,tigrfam_ATPase_proteolipid_su_C_euk pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu,tigrfam_ATPase_proteolipid_su_C_euk - no_errors ATP6V0C HGNC ENSG00000185883 51 0 0 44 3 6.38298 IL27 0 genome.wustl.edu 37 16 28518114 28518114 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 28518114 28518114 C T SNP IL27 ENST00000356897 human ensembl 74_37 -1 known missense c.19 p.D7N 0.881 NULL superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 51 0 0 65 6 8.4507 ITGAX 0 genome.wustl.edu 37 16 31383944 31383944 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 31383944 31383944 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.2319 p.A773 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 44 0 0 34 9 20.9302 SALL1 0 genome.wustl.edu 37 16 51175812 51175812 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 51175812 51175812 T G SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.321 p.Q107H 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 126 0 0 89 31 25.8333 MLKL 0 genome.wustl.edu 37 16 74708987 74708987 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 74708987 74708987 C T SNP MLKL ENST00000308807 human ensembl 74_37 -1 known missense c.1252 p.E418K 0.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC ENSG00000168404 61 0 0 49 10 16.9492 CNTNAP4 0 genome.wustl.edu 37 16 76523743 76523743 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 76523743 76523743 T C SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known silent c.2040 p.T680 0.996 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 13 0 0 8 3 27.2727 FOXC2 0 genome.wustl.edu 37 16 86602257 86602257 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 16 86602257 86602257 C G SNP FOXC2 ENST00000320354 human ensembl 74_37 +1 known missense c.1316 p.T439R 0.999 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 57 0 0 34 27 44.2623 SUPT6H 0 genome.wustl.edu 37 17 27025005 27025005 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 27025005 27025005 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.4405 p.P1469S 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 52 0 0 37 3 7.5 OR1D2 0 genome.wustl.edu 37 17 2996125 2996125 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 2996125 2996125 G T SNP OR1D2 ENST00000331459 human ensembl 74_37 -1 known missense c.166 p.H56N 0.985 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 OR1D2 HGNC ENSG00000184166 145 0 0 87 18 17.1429 CCL2 0 genome.wustl.edu 37 17 32582395 32582395 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 32582395 32582395 C T SNP CCL2 ENST00000225831 human ensembl 74_37 +1 known silent c.27 p.C9 1.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL2 HGNC ENSG00000108691 43 0 0 35 10 22.2222 SYNRG 0 genome.wustl.edu 37 17 35902333 35902333 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 35902333 35902333 T A SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.2943 p.E981D 0.375 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 86 0 0 54 33 37.931 ATP6V0A1 0 genome.wustl.edu 37 17 40618474 40618474 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 40618474 40618474 C T SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known missense c.145 p.R49W 0.964 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 34 0 0 26 3 10.3448 MED13 0 genome.wustl.edu 37 17 60060297 60060297 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 60060297 60060297 C G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.3067 p.G1023R 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 48 0 0 47 8 14.5455 BPTF 0 genome.wustl.edu 37 17 65908586 65908586 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 17 65908586 65908586 A G SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.4964 p.N1655S 0.001 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 50 0 0 47 11 18.9655 AFG3L2 0 genome.wustl.edu 37 18 12367347 12367347 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 18 12367347 12367347 T C SNP AFG3L2 ENST00000269143 human ensembl 74_37 -1 known silent c.327 p.G109 0.996 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 100 0 0 66 32 32.6531 ANKRD30B 0 genome.wustl.edu 37 18 14848928 14848928 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 18 14848928 14848928 G A SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3038 p.R1013K 0.993 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 12 0 0 16 7 30.4348 ANKRD29 0 genome.wustl.edu 37 18 21181263 21181263 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 18 21181263 21181263 A C SNP ANKRD29 ENST00000592179 human ensembl 74_37 -1 known missense c.833 p.L278R 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD29 HGNC ENSG00000154065 43 0 0 39 10 20.4082 CCDC178 0 genome.wustl.edu 37 18 30792016 30792016 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 18 30792016 30792016 G T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.2082 p.N694K 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 10 0 0 9 5 35.7143 ZNF24 0 genome.wustl.edu 37 18 32920214 32920214 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 18 32920214 32920214 A C SNP ZNF24 ENST00000261332 human ensembl 74_37 -1 known missense c.401 p.L134R 0.959 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF24 HGNC ENSG00000172466 113 0 0 98 41 29.4964 CDH7 0 genome.wustl.edu 37 18 63547695 63547695 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 18 63547695 63547695 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.1923 p.D641 0.793 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 42 0 0 33 15 31.25 HMHA1 0 genome.wustl.edu 37 19 1080282 1080282 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 1080282 1080282 A G SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.1732 p.S578G 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 154 0 0 88 14 13.7255 NFIX 0 genome.wustl.edu 37 19 13192537 13192537 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 13192537 13192537 G A SNP NFIX ENST00000585575 human ensembl 74_37 +1 known silent c.1098 p.T366 0.851 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIX HGNC ENSG00000008441 52 0 0 32 12 27.2727 ZNF98 0 genome.wustl.edu 37 19 22585671 22585671 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 22585671 22585671 T G SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.173 p.K58T 0.839 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 57 0 0 50 23 31.5068 C19orf40 0 genome.wustl.edu 37 19 33464169 33464169 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 33464169 33464169 G A SNP C19orf40 ENST00000588258 human ensembl 74_37 +1 known missense c.67 p.E23K 1.000 NULL superfamily_RuvA_2-like - no_errors C19orf40 HGNC ENSG00000131944 87 0 0 72 17 19.1011 ALKBH6 0 genome.wustl.edu 37 19 36502347 36502347 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 36502347 36502347 G C SNP ALKBH6 ENST00000378875 human ensembl 74_37 -1 known missense c.227 p.P76R 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH6 HGNC ENSG00000239382 39 0 0 34 4 10.5263 ZNF571 0 genome.wustl.edu 37 19 38057166 38057166 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 38057166 38057166 T A SNP ZNF571 ENST00000328550 human ensembl 74_37 -1 known missense c.164 p.K55M 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 46 0 0 47 5 9.61538 SPRED3 0 genome.wustl.edu 37 19 38881012 38881012 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 38881012 38881012 G A SNP SPRED3 ENST00000338502 human ensembl 74_37 +1 known missense c.70 p.G24R 1.000 smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 23 0 0 24 8 25 FCGBP 0 genome.wustl.edu 37 19 40424378 40424378 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 40424378 40424378 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.1825 p.G609R 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 125 0 0 112 19 14.5038 PSG11 0 genome.wustl.edu 37 19 43514194 43514194 + Splice_Site SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 43514194 43514194 C A SNP PSG11 ENST00000320078 human ensembl 74_37 -1 known splice_site c.965-1 e5-1 0.355 - - - no_errors PSG11 HGNC ENSG00000243130 32 0 0 24 3 11.1111 LIG1 0 genome.wustl.edu 37 19 48618952 48618952 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 48618952 48618952 T C SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known missense c.2714 p.N905S 1.000 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 58 0 0 63 17 21.25 CD33 0 genome.wustl.edu 37 19 51728692 51728692 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 51728692 51728692 A G SNP CD33 ENST00000262262 human ensembl 74_37 +1 known missense c.256 p.T86A 0.021 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD33 HGNC ENSG00000105383 84 0 0 88 7 7.36842 ZNF578 0 genome.wustl.edu 37 19 53013963 53013963 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 53013963 53013963 T G SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.329 p.I110S 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 82 0 0 110 12 9.83607 NLRP7 0 genome.wustl.edu 37 19 55451656 55451656 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 55451656 55451656 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.615 p.H205 0.035 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase 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 NLRP7 HGNC ENSG00000167634 103 0 0 70 57 44.8819 ZNF471 0 genome.wustl.edu 37 19 57035783 57035783 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 57035783 57035783 T G SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.347 p.L116R 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ENSG00000196263 41 0 0 35 14 28.5714 ZFP28 0 genome.wustl.edu 37 19 57061922 57061922 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 57061922 57061922 A T SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known missense c.846 p.Q282H 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 73 0 0 73 13 15.1163 ZIM2 0 genome.wustl.edu 37 19 57286821 57286821 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 57286821 57286821 G T SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.819 p.D273E 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 73 0 0 75 21 21.875 ZNF587B 0 genome.wustl.edu 37 19 58352292 58352292 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 58352292 58352292 A G SNP ZNF587B ENST00000442832 human ensembl 74_37 +1 known missense c.250 p.T84A 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587B HGNC ENSG00000269343 12 0 0 11 6 35.2941 ZNF814 0 genome.wustl.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 58385546 58385546 G T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1212 p.D404E 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 10 0 0 12 4 25 C19orf18 0 genome.wustl.edu 37 19 58483855 58483855 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 58483855 58483855 G C SNP C19orf18 ENST00000314391 human ensembl 74_37 -1 known missense c.244 p.P82A 0.000 NULL NULL - no_errors C19orf18 HGNC ENSG00000177025 34 0 0 34 6 15 ZNF606 0 genome.wustl.edu 37 19 58490054 58490054 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 58490054 58490054 C A SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.1994 p.C665F 0.182 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 54 0 0 59 19 24.359 ZNF559 0 genome.wustl.edu 37 19 9452564 9452564 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 9452564 9452564 T G SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known missense c.437 p.L146R 0.013 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 ZNF559 HGNC ENSG00000188321 99 0 0 50 31 38.2716 ZNF177 0 genome.wustl.edu 37 19 9492006 9492006 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 19 9492006 9492006 T C SNP ZNF177 ENST00000434737 human ensembl 74_37 +1 known silent c.999 p.T333 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF177 HGNC ENSG00000188629 48 0 0 38 15 28.3019 AFF3 0 genome.wustl.edu 37 2 100199324 100199324 + Nonsense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 100199324 100199324 G C SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known nonsense c.2804 p.S935* 0.973 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 79 0 0 68 8 10.5263 ROCK2 0 genome.wustl.edu 37 2 11355523 11355523 + Missense_Mutation SNP T T A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 11355523 11355523 T A SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known missense c.1613 p.D538V 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 27 0 0 23 7 23.3333 GREB1 0 genome.wustl.edu 37 2 11729005 11729005 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 11729005 11729005 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.1293 p.P431 0.993 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 85 0 0 51 27 34.6154 THSD7B 0 genome.wustl.edu 37 2 138378192 138378192 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 138378192 138378192 A C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.3704 p.K1235T 0.999 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 95 0 0 68 19 21.8391 LRP1B 0 genome.wustl.edu 37 2 141130589 141130589 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 141130589 141130589 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10756 p.S3586R 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 96 0 0 77 28 26.6667 ZEB2 0 genome.wustl.edu 37 2 145156242 145156242 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 145156242 145156242 T G SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2512 p.K838Q 0.998 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 89 0 0 72 15 17.2414 LY75 0 genome.wustl.edu 37 2 160628362 160628362 + Nonstop_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 160628362 160628362 T G SNP LY75 ENST00000554112 human ensembl 74_37 -1 known nonstop c.5622 p.*1874Y 0.007 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 43 0 0 33 14 29.7872 GALNT3 0 genome.wustl.edu 37 2 166605312 166605312 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 166605312 166605312 C A SNP GALNT3 ENST00000392701 human ensembl 74_37 -1 known missense c.1881 p.W627C 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 11 0 0 16 4 20 SCN9A 0 genome.wustl.edu 37 2 167134735 167134735 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 167134735 167134735 A T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.2435 p.F812Y 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 32 0 0 31 7 18.4211 TTN 0 genome.wustl.edu 37 2 179423360 179423360 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 179423360 179423360 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.79122 p.K26374N 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 16 0 0 16 5 23.8095 TTN 0 genome.wustl.edu 37 2 179595869 179595869 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 179595869 179595869 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.13791 p.T4597 0.894 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 139 0 0 116 10 7.93651 TTN 0 genome.wustl.edu 37 2 179641249 179641249 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 179641249 179641249 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5342 p.N1781T 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 85 0 0 76 12 13.6364 DUSP19 0 genome.wustl.edu 37 2 183960247 183960247 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 183960247 183960247 C T SNP DUSP19 ENST00000354221 human ensembl 74_37 +1 known missense c.515 p.S172L 0.004 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP - no_errors DUSP19 HGNC ENSG00000162999 106 0 0 118 16 11.9403 DYTN 0 genome.wustl.edu 37 2 207527965 207527965 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 207527965 207527965 T G SNP DYTN ENST00000452335 human ensembl 74_37 -1 known missense c.1295 p.K432T 0.000 NULL pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 55 0 0 42 12 22.2222 CHPF 0 genome.wustl.edu 37 2 220408082 220408082 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 220408082 220408082 C T SNP CHPF ENST00000243776 human ensembl 74_37 -1 known missense c.179 p.R60H 0.998 NULL pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 19 0 0 17 6 26.087 SCG2 0 genome.wustl.edu 37 2 224463855 224463855 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 224463855 224463855 T G SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.146 p.K49T 0.002 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 66 0 0 70 11 13.5802 DOCK10 0 genome.wustl.edu 37 2 225717731 225717731 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 225717731 225717731 C T SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.1997 p.R666Q 0.999 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 42 0 0 35 11 23.913 TRAF3IP1 0 genome.wustl.edu 37 2 239306265 239306265 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 239306265 239306265 C A SNP TRAF3IP1 ENST00000373327 human ensembl 74_37 +1 known missense c.1855 p.Q619K 1.000 NULL NULL - no_errors TRAF3IP1 HGNC ENSG00000204104 48 0 0 43 18 29.5082 IFT172 0 genome.wustl.edu 37 2 27684324 27684324 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 2 27684324 27684324 G T SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.2254 p.Q752K 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 102 0 0 106 20 15.873 ISM1 0 genome.wustl.edu 37 20 13279747 13279747 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 20 13279747 13279747 T G SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.1036 p.F346V 1.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 25 0 0 27 15 35.7143 PTPRT 0 genome.wustl.edu 37 20 40979283 40979283 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 20 40979283 40979283 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1850 p.R617Q 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 112 0 0 150 27 15.2542 NPBWR2 0 genome.wustl.edu 37 20 62737562 62737562 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 20 62737562 62737562 C G SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.623 p.W208S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 43 0 0 33 13 28.2609 DSCAM 0 genome.wustl.edu 37 21 41450790 41450790 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 21 41450790 41450790 T G SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.4535 p.E1512A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 37 0 0 21 9 30 KRTAP10-11 0 genome.wustl.edu 37 21 46066461 46066461 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 21 46066461 46066461 C T SNP KRTAP10-11 ENST00000334670 human ensembl 74_37 +1 known missense c.86 p.P29L 1.000 NULL NULL - no_errors KRTAP10-11 HGNC ENSG00000243489 77 0 0 64 11 14.6667 RASL10A 0 genome.wustl.edu 37 22 29711193 29711193 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 22 29711193 29711193 C A SNP RASL10A ENST00000216101 human ensembl 74_37 -1 known missense c.43 p.V15L 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase - no_errors RASL10A HGNC ENSG00000100276 14 0 0 2 2 50 APOL3 0 genome.wustl.edu 37 22 36537519 36537519 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 22 36537519 36537519 C T SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known missense c.938 p.R313Q 0.000 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 66 0 0 30 6 16.6667 CACNA1I 0 genome.wustl.edu 37 22 40037181 40037181 + Silent SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 22 40037181 40037181 C A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known silent c.1050 p.I350 0.991 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 70 0 0 33 12 26.6667 HGD 0 genome.wustl.edu 37 3 120365162 120365162 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 120365162 120365162 A C SNP HGD ENST00000283871 human ensembl 74_37 -1 known missense c.601 p.L201V 1.000 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC ENSG00000113924 82 0 0 52 20 27.7778 SLC6A6 0 genome.wustl.edu 37 3 14508104 14508104 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 14508104 14508104 C T SNP SLC6A6 ENST00000360861 human ensembl 74_37 +1 known silent c.813 p.G271 0.106 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 102 0 0 73 4 5.19481 RSRC1 0 genome.wustl.edu 37 3 157841666 157841666 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 157841666 157841666 G C SNP RSRC1 ENST00000295930 human ensembl 74_37 +1 known missense c.206 p.R69P 0.999 NULL NULL - no_errors RSRC1 HGNC ENSG00000174891 71 0 0 37 24 39.3443 ARPP21 0 genome.wustl.edu 37 3 35835229 35835229 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 35835229 35835229 C G SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.2221 p.Q741E 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 66 0 0 60 9 13.0435 PLCD1 0 genome.wustl.edu 37 3 38051232 38051232 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 38051232 38051232 C T SNP PLCD1 ENST00000463876 human ensembl 74_37 -1 known missense c.1421 p.G474D 0.031 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 56 0 0 26 8 23.5294 SCN11A 0 genome.wustl.edu 37 3 38913121 38913121 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 38913121 38913121 A C SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.3574 p.F1192V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 34 0 0 23 16 41.0256 TRAK1 0 genome.wustl.edu 37 3 42240698 42240698 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 42240698 42240698 G A SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known silent c.969 p.T323 0.203 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 48 0 0 39 6 13.3333 CCR3 0 genome.wustl.edu 37 3 46307116 46307116 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 46307116 46307116 T G SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.530 p.V177G 0.979 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 58 0 0 65 10 13.3333 CCR3 0 genome.wustl.edu 37 3 46307118 46307118 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 46307118 46307118 A C SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.532 p.T178P 0.982 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 58 0 0 65 11 14.4737 MITF 0 genome.wustl.edu 37 3 69987080 69987080 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 69987080 69987080 A C SNP MITF ENST00000448226 human ensembl 74_37 +1 known missense c.462 p.Q154H 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MITF HGNC ENSG00000187098 58 0 0 18 21 53.8462 CNTN3 0 genome.wustl.edu 37 3 74411155 74411155 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 74411155 74411155 T G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1250 p.K417T 0.703 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 41 0 0 32 14 30.4348 ROBO1 0 genome.wustl.edu 37 3 78734932 78734932 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 78734932 78734932 T G SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.1306 p.S436R 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 24 0 0 13 4 23.5294 SSUH2 0 genome.wustl.edu 37 3 8671409 8671409 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 8671409 8671409 A T SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.529 p.C177S 1.000 superfamily_HSP_DnaJ_Cys-rich_dom superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 87 0 0 58 16 21.6216 ST3GAL6 0 genome.wustl.edu 37 3 98507289 98507289 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 3 98507289 98507289 A C SNP ST3GAL6 ENST00000394162 human ensembl 74_37 +1 known missense c.738 p.K246N 0.059 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 70 0 0 48 6 11.1111 TET2 0 genome.wustl.edu 37 4 106155509 106155509 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 106155509 106155509 G C SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.410 p.S137T 0.163 NULL NULL - no_errors TET2 HGNC ENSG00000168769 37 0 0 19 4 17.3913 ANK2 0 genome.wustl.edu 37 4 114274810 114274810 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 114274810 114274810 G C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.5036 p.G1679A 0.117 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 53 0 0 40 17 29.8246 ANK2 0 genome.wustl.edu 37 4 114275318 114275318 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 114275318 114275318 A C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.5544 p.S1848 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 151 0 0 101 57 36.0759 FAT4 0 genome.wustl.edu 37 4 126412593 126412593 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 126412593 126412593 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.14616 p.Q4872H 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 68 0 0 35 18 33.9623 DCLK2 0 genome.wustl.edu 37 4 151023935 151023935 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 151023935 151023935 A G SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.727 p.K243E 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 43 0 0 16 25 60.9756 NPY2R 0 genome.wustl.edu 37 4 156136045 156136045 + Silent SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 156136045 156136045 T G SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known silent c.954 p.T318 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 81 0 0 64 16 20 CTSO 0 genome.wustl.edu 37 4 156849531 156849531 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 156849531 156849531 T C SNP CTSO ENST00000433477 human ensembl 74_37 -1 known silent c.888 p.G296 0.071 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 64 0 0 51 28 35.443 PACRGL 0 genome.wustl.edu 37 4 20715162 20715162 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 20715162 20715162 C A SNP PACRGL ENST00000471979 human ensembl 74_37 +1 known missense c.609 p.S203R 1.000 pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRGL HGNC ENSG00000163138 36 0 0 39 3 7.14286 GRK4 0 genome.wustl.edu 37 4 3006017 3006017 + Silent SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 3006017 3006017 G C SNP GRK4 ENST00000398052 human ensembl 74_37 +1 known silent c.399 p.L133 0.147 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 116 0 0 99 40 28.777 N4BP2 0 genome.wustl.edu 37 4 40104441 40104441 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 4 40104441 40104441 T G SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.976 p.F326V 0.655 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 41 0 0 53 19 26.3889 SLCO6A1 0 genome.wustl.edu 37 5 101748764 101748764 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 101748764 101748764 C G SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.1556 p.R519T 0.999 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 33 0 0 10 9 47.3684 SLC6A18 0 genome.wustl.edu 37 5 1242923 1242923 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 1242923 1242923 A C SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known missense c.1076 p.K359T 0.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 99 0 0 120 12 9.09091 FSTL4 0 genome.wustl.edu 37 5 132535260 132535260 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 132535260 132535260 C T SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.2056 p.G686S 0.234 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 69 0 0 33 35 51.4706 PCDHGA12 0 genome.wustl.edu 37 5 140811804 140811804 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 140811804 140811804 A C SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1478 p.E493A 0.663 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 71 0 0 36 35 49.2958 KCTD16 0 genome.wustl.edu 37 5 143586831 143586831 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 143586831 143586831 A G SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known missense c.554 p.K185R 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 48 0 0 15 27 64.2857 DOCK2 0 genome.wustl.edu 37 5 169468062 169468062 + Nonsense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 169468062 169468062 C G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known nonsense c.3669 p.Y1223* 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 61 0 0 27 9 25 CDH9 0 genome.wustl.edu 37 5 26915859 26915859 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 26915859 26915859 T G SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.402 p.K134N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 140 0 0 148 51 25.6281 NIPBL 0 genome.wustl.edu 37 5 36976423 36976423 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 36976423 36976423 G A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.1414 p.D472N 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 64 0 0 80 17 17.5258 CMYA5 0 genome.wustl.edu 37 5 79030206 79030206 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 5 79030206 79030206 A G SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.5618 p.K1873R 0.004 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 58 0 0 41 9 18 REPS1 0 genome.wustl.edu 37 6 139234026 139234026 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 139234026 139234026 G A SNP REPS1 ENST00000450536 human ensembl 74_37 -1 known missense c.1847 p.T616I 1.000 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 50 0 0 29 11 27.5 MTHFD1L 0 genome.wustl.edu 37 6 151331065 151331065 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 151331065 151331065 G C SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.2236 p.A746P 1.000 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 40 0 0 56 7 11.1111 SYNE1 0 genome.wustl.edu 37 6 152542125 152542125 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 152542125 152542125 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.21713 p.L7238R 0.987 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 78 0 0 68 7 9.33333 GPLD1 0 genome.wustl.edu 37 6 24475365 24475365 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 24475365 24475365 A C SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.425 p.L142R 0.969 NULL pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 69 0 0 90 31 25.6198 KIAA0319 0 genome.wustl.edu 37 6 24596437 24596437 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 24596437 24596437 C T SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known silent c.465 p.E155 0.988 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 73 0 0 116 22 15.942 SLC17A3 0 genome.wustl.edu 37 6 25862490 25862490 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 25862490 25862490 T G SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known missense c.274 p.S92R 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 38 0 0 65 16 19.7531 PGBD1 0 genome.wustl.edu 37 6 28265715 28265715 + Silent SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 28265715 28265715 A G SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known silent c.816 p.Q272 1.000 superfamily_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 46 0 0 55 22 28.5714 HLA-A 0 genome.wustl.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 29910693 29910693 A G SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known missense c.233 p.Q78R 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 55 0 0 66 6 8.33333 RNF8 0 genome.wustl.edu 37 6 37342398 37342398 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 37342398 37342398 T C SNP RNF8 ENST00000373479 human ensembl 74_37 +1 known silent c.1041 p.H347 0.757 pirsf_E3_Ub_ligase_RNF8 pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING - no_errors RNF8 HGNC ENSG00000112130 32 0 0 32 21 39.6226 DNAH8 0 genome.wustl.edu 37 6 38754674 38754674 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 38754674 38754674 A C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.1878 p.A626 0.903 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 38 0 0 63 23 26.7442 DNAH8 0 genome.wustl.edu 37 6 38828369 38828369 + Missense_Mutation SNP G G T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 38828369 38828369 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.5444 p.C1815F 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 36 0 0 40 4 9.09091 DAAM2 0 genome.wustl.edu 37 6 39864668 39864668 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 39864668 39864668 T G SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.2422 p.F808V 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 57 0 0 51 24 32 TDRD6 0 genome.wustl.edu 37 6 46660845 46660845 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 46660845 46660845 A C SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.4980 p.E1660D 0.149 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 45 0 0 68 27 28.4211 PLA2G7 0 genome.wustl.edu 37 6 46684165 46684165 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 46684165 46684165 A C SNP PLA2G7 ENST00000274793 human ensembl 74_37 -1 known missense c.332 p.L111R 1.000 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote - no_errors PLA2G7 HGNC ENSG00000146070 66 0 0 105 19 15.3226 TFAP2B 0 genome.wustl.edu 37 6 50805705 50805705 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 50805705 50805705 G A SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known missense c.866 p.G289E 1.000 pfam_TF_AP2_C,prints_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 99 0 0 116 28 19.4444 COL21A1 0 genome.wustl.edu 37 6 56044591 56044591 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 56044591 56044591 A C SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.425 p.L142R 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 32 0 0 37 9 19.5652 COL9A1 0 genome.wustl.edu 37 6 70961827 70961827 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 70961827 70961827 A C SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.1868 p.L623R 0.980 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 152 0 0 188 31 14.1553 KHDC3L 0 genome.wustl.edu 37 6 74073316 74073316 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 74073316 74073316 G A SNP KHDC3L ENST00000370367 human ensembl 74_37 +1 known silent c.387 p.Q129 0.003 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 57 0 0 85 13 13.2653 DOCK4 0 genome.wustl.edu 37 7 111517196 111517196 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 111517196 111517196 A C SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.1634 p.L545R 1.000 superfamily_C2_dom pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 11 0 0 11 5 31.25 PPP1R3A 0 genome.wustl.edu 37 7 113519443 113519443 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 113519443 113519443 T G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1704 p.E568D 0.005 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 68 0 0 69 15 17.8571 PPP1R3A 0 genome.wustl.edu 37 7 113519986 113519986 + Silent SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 113519986 113519986 A G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known silent c.1161 p.D387 0.004 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 127 0 0 100 45 31.0345 GRM8 0 genome.wustl.edu 37 7 126086390 126086390 + Missense_Mutation SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 126086390 126086390 T C SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.2467 p.S823G 1.000 pfam_GPCR_3_C,prints_GPCR_3_mtglu_rcpt,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 45 0 0 35 17 32.6923 MICALL2 0 genome.wustl.edu 37 7 1484296 1484296 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 1484296 1484296 C T SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known silent c.1410 p.A470 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 31 0 0 42 7 14.2857 SSPO 0 genome.wustl.edu 37 7 149481149 149481149 + RNA SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 149481149 149481149 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors SSPO HGNC ENSG00000197558 19 0 0 13 7 35 ASB10 0 genome.wustl.edu 37 7 150873302 150873302 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 150873302 150873302 C T SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.1436 p.R479H 0.995 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 60 0 0 42 7 14.2857 DNAH11 0 genome.wustl.edu 37 7 21675579 21675579 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 21675579 21675579 T C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.4606 p.L1536 0.483 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 17 0 0 16 8 33.3333 PDE1C 0 genome.wustl.edu 37 7 31918791 31918791 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 31918791 31918791 C T SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.243 p.R81 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 37 0 0 28 7 20 ABCA13 0 genome.wustl.edu 37 7 48375057 48375057 + Silent SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 48375057 48375057 T G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.10038 p.T3346 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 49 0 0 51 10 16.3934 POM121L12 0 genome.wustl.edu 37 7 53103843 53103843 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 53103843 53103843 C A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.479 p.P160H 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 44 0 0 35 5 12.5 EGFR 0 genome.wustl.edu 37 7 55220325 55220325 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 55220325 55220325 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.715 p.G239S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 134 0 0 134 14 9.45946 PCLO 0 genome.wustl.edu 37 7 82546096 82546096 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 82546096 82546096 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11206 p.T3736P 0.171 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 89 0 0 132 11 7.69231 PCLO 0 genome.wustl.edu 37 7 82582532 82582532 + Silent SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 82582532 82582532 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.7737 p.T2579 0.519 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 105 0 0 196 19 8.83721 SAMD9 0 genome.wustl.edu 37 7 92733226 92733226 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 92733226 92733226 T G SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.2185 p.S729R 0.038 superfamily_P-loop_NTPase pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 137 0 0 212 51 19.3916 GNGT1 0 genome.wustl.edu 37 7 93540115 93540115 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 93540115 93540115 G C SNP GNGT1 ENST00000248572 human ensembl 74_37 +1 known missense c.110 p.C37S 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNGT1 HGNC ENSG00000127928 83 0 0 128 12 8.57143 PON1 0 genome.wustl.edu 37 7 94944740 94944740 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 94944740 94944740 C T SNP PON1 ENST00000222381 human ensembl 74_37 -1 known missense c.264 p.M88I 1.000 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 54 0 0 47 15 24.1935 CSMD3 0 genome.wustl.edu 37 8 113277783 113277783 + Missense_Mutation SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 113277783 113277783 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9545 p.G3182V 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 91 0 0 80 20 20 TNFRSF11B 0 genome.wustl.edu 37 8 119941046 119941046 + Missense_Mutation SNP G G C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 119941046 119941046 G C SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known missense c.523 p.Q175E 0.063 pirsf_TNFR_11B,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11 pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 114 0 0 101 18 15.1261 TIGD5 0 genome.wustl.edu 37 8 144681750 144681750 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 144681750 144681750 G A SNP TIGD5 ENST00000504548 human ensembl 74_37 +1 known silent c.1677 p.P559 0.001 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD5 HGNC ENSG00000179886 16 0 0 8 6 42.8571 ZNF251 0 genome.wustl.edu 37 8 145979604 145979604 + Missense_Mutation SNP C C G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 145979604 145979604 C G SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known missense c.136 p.E46Q 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF251 HGNC ENSG00000198169 25 0 0 16 14 46.6667 TNFRSF10A 0 genome.wustl.edu 37 8 23057399 23057399 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 23057399 23057399 C T SNP TNFRSF10A ENST00000221132 human ensembl 74_37 -1 known silent c.831 p.R277 0.004 pirsf_TNFR_10 pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10A HGNC ENSG00000104689 133 0 0 130 15 10.3448 TRIM55 0 genome.wustl.edu 37 8 67067892 67067892 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 67067892 67067892 T G SNP TRIM55 ENST00000276573 human ensembl 74_37 +1 known missense c.1559 p.L520R 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 52 0 0 34 11 24.4444 PREX2 0 genome.wustl.edu 37 8 69028132 69028132 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 69028132 69028132 T C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.3291 p.S1097 0.979 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 78 0 0 71 36 33.6449 ZFHX4 0 genome.wustl.edu 37 8 77767093 77767093 + Nonsense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 77767093 77767093 A T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known nonsense c.7936 p.K2646* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 70 0 0 33 37 52.8571 CNGB3 0 genome.wustl.edu 37 8 87591013 87591013 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 8 87591013 87591013 T G SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.2007 p.K669N 0.662 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 83 0 0 66 44 40 OR13C9 0 genome.wustl.edu 37 9 107379910 107379910 + Silent SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 9 107379910 107379910 G A SNP OR13C9 ENST00000259362 human ensembl 74_37 -1 known silent c.576 p.I192 0.997 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 OR13C9 HGNC ENSG00000136839 80 0 0 94 9 8.73786 FAM102A 0 genome.wustl.edu 37 9 130707126 130707126 + Silent SNP C C A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 9 130707126 130707126 C A SNP FAM102A ENST00000373095 human ensembl 74_37 -1 known silent c.969 p.R323 0.851 NULL pfam_NT-C2 - no_errors FAM102A HGNC ENSG00000167106 48 0 0 23 5 17.8571 GTF3C5 0 genome.wustl.edu 37 9 135932234 135932234 + Silent SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 9 135932234 135932234 C T SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known silent c.1353 p.S451 0.001 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 99 0 0 77 20 20.6186 SHB 0 genome.wustl.edu 37 9 38068576 38068576 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 9 38068576 38068576 G A SNP SHB ENST00000377707 human ensembl 74_37 -1 known missense c.67 p.P23S 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHB HGNC ENSG00000107338 19 0 0 13 7 35 NRK 0 genome.wustl.edu 37 X 105178266 105178266 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 105178266 105178266 A C SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.3332 p.N1111T 0.002 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 28 0 0 28 15 34.8837 MUM1L1 0 genome.wustl.edu 37 X 105450190 105450190 + Silent SNP A A G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 105450190 105450190 A G SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known silent c.765 p.K255 0.918 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 14 0 0 11 3 21.4286 TRPC5 0 genome.wustl.edu 37 X 111195328 111195328 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 111195328 111195328 T G SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.321 p.E107D 0.997 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 88 0 0 67 43 39.0909 MAGEC1 0 genome.wustl.edu 37 X 140996330 140996330 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 140996330 140996330 T G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3140 p.V1047G 0.033 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 65 0 0 53 18 25.3521 NHS 0 genome.wustl.edu 37 X 17744831 17744831 + Missense_Mutation SNP G G A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 17744831 17744831 G A SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.2542 p.E848K 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 61 0 0 69 18 20.6897 CXorf23 0 genome.wustl.edu 37 X 19983249 19983249 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 19983249 19983249 A C SNP CXorf23 ENST00000379687 human ensembl 74_37 -1 known missense c.1187 p.L396R 0.008 NULL NULL - no_errors CXorf23 HGNC ENSG00000173681 22 0 0 35 9 20.4545 DMD 0 genome.wustl.edu 37 X 31515002 31515002 + Missense_Mutation SNP A A C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 31515002 31515002 A C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.8450 p.L2817R 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 17 0 0 7 10 58.8235 MXRA5 0 genome.wustl.edu 37 X 3227908 3227908 + Missense_Mutation SNP A A T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 3227908 3227908 A T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.8336 p.V2779D 0.015 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 40 0 0 40 15 27.2727 FAM47C 0 genome.wustl.edu 37 X 37029016 37029016 + Missense_Mutation SNP C C T TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 37029016 37029016 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.2533 p.R845C 0.137 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 52 0 0 39 28 41.791 SHROOM4 0 genome.wustl.edu 37 X 50377495 50377495 + Missense_Mutation SNP T T G TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 50377495 50377495 T G SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.1578 p.Q526H 0.966 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 39 0 0 29 28 49.1228 ZCCHC5 0 genome.wustl.edu 37 X 77913702 77913702 + Silent SNP T T C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d X 77913702 77913702 T C SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known silent c.216 p.A72 0.007 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 20 0 0 6 9 60 ADAM21P1 0 genome.wustl.edu 37 14 70713992 70713992 + RNA DEL C C - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 70713992 70713992 C - DEL ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors ADAM21P1 HGNC ENSG00000235812 95 0 0 88 21 19.2661 SIPA1L1 0 genome.wustl.edu 37 14 72117055 72117055 + Frame_Shift_Del DEL A A - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 14 72117055 72117055 A - DEL SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known frame_shift_del c.1822 p.N608fs 1.000 pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 177 0 0 90 90 50 TDRD6 0 genome.wustl.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 46660414 46660415 - A INS TDRD6 ENST00000316081 human ensembl 74_37 +1 known frame_shift_ins c.4549_4550 p.M1520fs 0.002:0.009 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 57 0 0 108 6 5.26316 MDN1 0 genome.wustl.edu 37 6 90432814 90432825 + In_Frame_Del DEL GTCCTCCTTTTT GTCCTCCTTTTT - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 GTCCTCCTTTTT GTCCTCCTTTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 6 90432814 90432825 GTCCTCCTTTTT - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known in_frame_del c.5827_5816 p.QKGG1939in_frame_del 1.000:0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.992:1.000 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 150 0 0 211 12 5.38117 SSPO 0 genome.wustl.edu 37 7 149485458 149485459 + RNA INS - - C TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 7 149485458 149485459 - C INS SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors SSPO HGNC ENSG00000197558 60 0 0 33 15 31.25 TOPORS 0 genome.wustl.edu 37 9 32542999 32543002 + Frame_Shift_Del DEL CTCA CTCA - TCGA-RD-A7BT-01A-11D-A33T-08 TCGA-RD-A7BT-10A-01D-A33W-08 CTCA CTCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9cd8946-61e9-4d4c-974c-08e0f790a16a e717ba5f-74e7-4f17-90d3-6599a3fdcc8d 9 32542999 32543002 CTCA - DEL TOPORS ENST00000360538 human ensembl 74_37 -1 known frame_shift_del c.1524_1521 p.Y507fs 0.896:0.888:0.884:0.770 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 71 0 0 67 31 31.6327