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 ABCE1 0 genome.wustl.edu 37 4 146032188 146032188 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 4 146032188 146032188 G A SNP ABCE1 ENST00000296577 human ensembl 74_37 +1 known missense c.682 p.A228T 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 tier1 - - 114 0 0.00 74 40 35.09 ACSS3 0 genome.wustl.edu 37 12 81472136 81472136 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 81472136 81472136 A C SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.237 p.K79N 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 117 0 0.00 68 38 35.85 ADCY10 0 genome.wustl.edu 37 1 167793761 167793761 + Silent SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 167793761 167793761 A G SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known silent c.4005 p.H1335 0.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 tier1 - - 362 0 0.00 254 110 30.22 AMPH 0 genome.wustl.edu 37 7 38574555 38574555 + Nonsense_Mutation SNP A A T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 7 38574555 38574555 A T SNP AMPH ENST00000356264 human ensembl 74_37 -1 known nonsense c.126 p.Y42* 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 tier1 - - 109 0 0.00 57 32 35.56 AMY2B 0 genome.wustl.edu 37 1 104117873 104117873 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 104117873 104117873 C T SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.907 p.P303S 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 - - 799 0 0.00 484 132 21.39 ANO2 0 genome.wustl.edu 37 12 5724441 5724441 + Silent SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 5724441 5724441 A G SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known silent c.1842 p.T614 0.999 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 50 0 0.00 13 9 40.91 ANO6 0 genome.wustl.edu 37 12 45822905 45822905 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 45822905 45822905 G A SNP ANO6 ENST00000320560 human ensembl 74_37 +1 known silent c.2544 p.V848 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 tier1 - - 67 0 0.00 38 15 28.30 ARHGAP8 0 genome.wustl.edu 37 22 45244839 45244839 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 22 45244839 45244839 G A SNP ARHGAP8 ENST00000517296 human ensembl 74_37 +1 known missense c.1406 p.G469E 0.788 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP8 HGNC ENSG00000241484 tier1 - - 288 0 0.00 154 12 7.19 ATP1B2 0 genome.wustl.edu 37 17 7554837 7554837 + Missense_Mutation SNP A A T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 17 7554837 7554837 A T SNP ATP1B2 ENST00000250111 human ensembl 74_37 +1 known missense c.1 p.M1L 1.000 pfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B2 HGNC ENSG00000129244 tier1 - - 24 0 0.00 7 10 58.82 BICC1 0 genome.wustl.edu 37 10 60546814 60546814 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 10 60546814 60546814 G A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known silent c.519 p.R173 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 79 0 0.00 45 27 37.50 BTBD3 0 genome.wustl.edu 37 20 11899126 11899126 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 20 11899126 11899126 C T SNP BTBD3 ENST00000378226 human ensembl 74_37 +1 known missense c.203 p.P68L 1.000 NULL pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 tier1 - - 332 0 0.00 254 16 5.93 C5orf64 0 genome.wustl.edu 37 5 60999793 60999793 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 60999793 60999793 T C SNP C5orf64 ENST00000313303 human ensembl 74_37 +1 known missense c.326 p.M109T 0.011 NULL NULL - no_errors C5orf64 HGNC ENSG00000178722 tier1 - - 28 0 0.00 17 13 43.33 CAPSL 0 genome.wustl.edu 37 5 35910552 35910552 + Missense_Mutation SNP T T A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 35910552 35910552 T A SNP CAPSL ENST00000397366 human ensembl 74_37 -1 known missense c.231 p.K77N 0.984 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors CAPSL HGNC ENSG00000152611 tier1 - - 149 0 0.00 84 27 24.32 CBL 0 genome.wustl.edu 37 11 119155732 119155732 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 119155732 119155732 G A SNP CBL ENST00000264033 human ensembl 74_37 +1 known silent c.1485 p.P495 0.749 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 tier1 rs2229072 - 131 0 0.00 68 70 50.72 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36776025 36776025 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 13 36776025 36776025 T G SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.485 p.K162T 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 tier1 - - 95 0 0.00 24 47 66.20 CCDC178 0 genome.wustl.edu 37 18 30928930 30928930 + Silent SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 18 30928930 30928930 A C SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known silent c.381 p.T127 0.003 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 - - 85 0 0.00 20 16 44.44 CCDC88C 0 genome.wustl.edu 37 14 91757380 91757380 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 14 91757380 91757380 T G SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.4161 p.K1387N 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 tier1 - - 18 0 0.00 18 8 30.77 CDH11 0 genome.wustl.edu 37 16 64981960 64981960 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 16 64981960 64981960 T C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1937 p.E646G 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 161 0 0.00 25 33 56.90 CDH23 0 genome.wustl.edu 37 10 73485245 73485245 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 10 73485245 73485245 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.3562 p.H1188Y 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 45 0 0.00 29 6 17.14 CDH3 0 genome.wustl.edu 37 16 68718524 68718524 + Silent SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 16 68718524 68718524 C T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known silent c.1221 p.Y407 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 tier1 - - 500 0 0.00 136 193 58.48 COL19A1 0 genome.wustl.edu 37 6 70875860 70875860 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 70875860 70875860 G A SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.2428 p.G810R 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 - - 260 0 0.00 137 77 35.81 CRISPLD1 0 genome.wustl.edu 37 8 75928831 75928831 + Silent SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 75928831 75928831 A G SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known silent c.759 p.E253 1.000 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 217 0 0.00 126 44 25.88 CROCCP3 0 genome.wustl.edu 37 1 16810948 16810948 + RNA SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 16810948 16810948 C T SNP CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 0.239 - - - no_errors CROCCP3 HGNC ENSG00000080947 tier1 - - 30 0 0.00 16 13 44.83 CSE1L 0 genome.wustl.edu 37 20 47679790 47679790 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 20 47679790 47679790 T C SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known missense c.137 p.L46P 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 tier1 - - 92 0 0.00 49 43 46.74 CSMD1 0 genome.wustl.edu 37 8 3267129 3267129 + Splice_Site SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 3267129 3267129 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known splice_site c.1565-2 e14-2 1.000 - - - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 22 0 0.00 11 6 35.29 CTNNA2 0 genome.wustl.edu 37 2 80874873 80874873 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 80874873 80874873 A C SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2696 p.K899T 1.000 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 345 0 0.00 134 95 41.48 DHX16 0 genome.wustl.edu 37 6 30633305 30633305 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 30633305 30633305 T C SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known missense c.872 p.K291R 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 tier1 - - 155 0 0.00 213 31 12.70 DNMT1 0 genome.wustl.edu 37 19 10262102 10262102 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 19 10262102 10262102 C T SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.2237 p.R746H 0.989 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 tier1 - - 250 0 0.00 121 29 19.33 DYNC1LI1 0 genome.wustl.edu 37 3 32576070 32576070 + Missense_Mutation SNP C C G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 3 32576070 32576070 C G SNP DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known missense c.901 p.V301L 0.995 pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 tier1 - - 124 0 0.00 53 37 41.11 EBF3 0 genome.wustl.edu 37 10 131639252 131639252 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 10 131639252 131639252 C T SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.1417 p.V473I 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 tier1 rs150680609 - 230 0 0.00 111 27 19.57 ENSG00000233421 0 genome.wustl.edu 37 1 16860695 16860695 + RNA SNP G G T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 16860695 16860695 G T SNP ENSG00000233421 ENST00000415386 human ensembl 74_37 -1 known rna NULL NULL 0.052 - - - no_errors U1 RFAM ENSG00000233421 tier1 rs201632500 - 8 0 0.00 0 4 100.00 ENSG00000259425 0 genome.wustl.edu 37 15 23098500 23098500 + RNA SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 15 23098500 23098500 T C SNP ENSG00000259425 ENST00000559740 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors RP11-566K19.5 Clone_based_vega_gene ENSG00000259425 tier1 - - 111 0 0.00 42 8 16.00 ENSG00000259648 0 genome.wustl.edu 37 14 68082152 68082152 + RNA SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 14 68082152 68082152 G A SNP ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 tier1 - - 10 0 0.00 7 4 36.36 ENSG00000266156 0 genome.wustl.edu 37 19 20988369 20988370 + RNA INS - - T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 19 20988369 20988370 - T INS ENSG00000266156 ENST00000582722 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.001 - - - no_errors AC010329.1 Clone_based_ensembl_gene ENSG00000266156 tier1 36 0 0.00 25 2 7.41 EPHA7 0 genome.wustl.edu 37 6 93979254 93979254 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 93979254 93979254 T G SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.1574 p.N525T 0.959 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 158 0 0.00 78 57 42.22 FRAS1 0 genome.wustl.edu 37 4 79437046 79437046 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 4 79437046 79437046 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.10268 p.P3423L 0.856 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 113 0 0.00 55 21 27.63 GIMAP6 0 genome.wustl.edu 37 7 150325453 150325453 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 7 150325453 150325453 G A SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known missense c.233 p.T78I 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 tier1 - - 338 0 0.00 93 103 52.28 GOLGA8I 0 genome.wustl.edu 37 15 23265542 23265542 + Missense_Mutation SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 15 23265542 23265542 A G SNP GOLGA8I ENST00000450802 human ensembl 74_37 +1 known missense c.1885 p.R629G 0.010 NULL NULL - no_errors GOLGA8I HGNC ENSG00000153666 tier1 - - 197 0 0.00 37 51 57.95 GPRASP1 0 genome.wustl.edu 37 X 101912053 101912053 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 X 101912053 101912053 C T SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.3212 p.P1071L 0.001 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 tier1 - - 209 0 0.00 65 111 63.07 GPX5 0 genome.wustl.edu 37 6 28501818 28501818 + Silent SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 28501818 28501818 T C SNP GPX5 ENST00000412168 human ensembl 74_37 +1 known silent c.540 p.R180 0.984 superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase - no_errors GPX5 HGNC ENSG00000224586 tier1 - - 194 0 0.00 110 66 37.50 GRM1 0 genome.wustl.edu 37 6 146351321 146351321 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 146351321 146351321 A C SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.668 p.N223T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 119 0 0.00 67 31 31.63 HERC6 0 genome.wustl.edu 37 4 89329691 89329691 + Frame_Shift_Del DEL G G - TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 4 89329691 89329691 G - DEL HERC6 ENST00000264346 human ensembl 74_37 +1 known frame_shift_del c.1290 p.T431fs 0.000 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 tier1 19 0 0.00 5 2 28.57 HGD 0 genome.wustl.edu 37 3 120360524 120360524 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 3 120360524 120360524 T C SNP HGD ENST00000283871 human ensembl 74_37 -1 known missense c.791 p.N264S 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 - - 167 0 0.00 87 52 37.41 HSP90AB2P 0 genome.wustl.edu 37 4 13338210 13338210 + RNA SNP C C G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 4 13338210 13338210 C G SNP HSP90AB2P ENST00000602906 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AB2P HGNC ENSG00000205940 tier1 - - 108 0 0.00 69 23 25.00 KCNA5 0 genome.wustl.edu 37 12 5154187 5154187 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 5154187 5154187 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.874 p.P292S 0.091 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 tier1 - - 161 0 0.00 80 7 8.05 KCNS3 0 genome.wustl.edu 37 2 18112403 18112403 + Missense_Mutation SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 18112403 18112403 A G SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.128 p.K43R 0.101 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 tier1 - - 166 0 0.00 98 21 17.65 KIF12 0 genome.wustl.edu 37 9 116856200 116856200 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 9 116856200 116856200 G A SNP KIF12 ENST00000374118 human ensembl 74_37 -1 known missense c.952 p.R318C 0.837 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC ENSG00000136883 tier1 - - 78 0 0.00 42 5 10.64 LAMP5 0 genome.wustl.edu 37 20 9496661 9496661 + Missense_Mutation SNP G G T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 20 9496661 9496661 G T SNP LAMP5 ENST00000246070 human ensembl 74_37 +1 known missense c.252 p.Q84H 1.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop - no_errors LAMP5 HGNC ENSG00000125869 35 0 0.00 30 2 6.25 LAT2 0 genome.wustl.edu 37 7 73630393 73630393 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 7 73630393 73630393 C T SNP LAT2 ENST00000275635 human ensembl 74_37 +1 known missense c.88 p.R30C 0.729 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 tier1 - - 97 0 0.00 48 26 35.14 LCE1D 0 genome.wustl.edu 37 1 152770271 152770271 + Missense_Mutation SNP A A T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 152770271 152770271 A T SNP LCE1D ENST00000326233 human ensembl 74_37 +1 known missense c.1 p.M1L 0.963 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 tier1 - - 85 0 0.00 100 9 8.26 LIN7A 0 genome.wustl.edu 37 12 81205324 81205324 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 81205324 81205324 G A SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.622 p.R208C 1.000 pirsf_Lin-7_homologue pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 65 0 0.00 27 8 22.86 LPHN2 0 genome.wustl.edu 37 1 82456692 82456692 + Missense_Mutation SNP G G T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 82456692 82456692 G T SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.4288 p.A1430S 0.999 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 84 0 0.00 39 20 33.90 LRP12 0 genome.wustl.edu 37 8 105503760 105503760 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 105503760 105503760 A C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1664 p.V555G 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 99 0 0.00 41 39 48.75 LTK 0 genome.wustl.edu 37 15 41805199 41805199 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 15 41805199 41805199 G A SNP LTK ENST00000263800 human ensembl 74_37 -1 known missense c.163 p.P55S 0.041 NULL 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 LTK HGNC ENSG00000062524 tier1 - - 71 0 0.00 16 32 65.31 LUZP2 0 genome.wustl.edu 37 11 24927590 24927590 + Silent SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 24927590 24927590 C T SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known silent c.450 p.H150 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 tier1 - - 92 0 0.00 156 13 7.65 MAML2 0 genome.wustl.edu 37 11 95826033 95826033 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 95826033 95826033 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known missense c.1162 p.G388S 0.999 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 - - 31 0 0.00 18 6 25.00 MARCH7 0 genome.wustl.edu 37 2 160604515 160604515 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 160604515 160604515 G A SNP MARCH7 ENST00000259050 human ensembl 74_37 +1 known silent c.714 p.T238 0.431 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 tier1 rs200191640 - 70 0 0.00 21 25 54.35 MED12L 0 genome.wustl.edu 37 3 151082848 151082848 + Missense_Mutation SNP C C A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 3 151082848 151082848 C A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.2934 p.F978L 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 297 0 0.00 137 97 41.45 MESP2 0 genome.wustl.edu 37 15 90320185 90320185 + Silent SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 15 90320185 90320185 A G SNP MESP2 ENST00000341735 human ensembl 74_37 +1 known silent c.597 p.G199 0.023 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MESP2 HGNC ENSG00000188095 tier1 - - 18 0 0.00 11 5 31.25 MFSD7 0 genome.wustl.edu 37 4 677412 677412 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 4 677412 677412 C T SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known missense c.982 p.V328M 0.406 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 tier1 - - 41 0 0.00 25 8 24.24 MKRN3 0 genome.wustl.edu 37 15 23811021 23811021 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 15 23811021 23811021 A C SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.92 p.D31A 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 95 0 0.00 23 20 46.51 MT-ND5 0 genome.wustl.edu 37 MT 13180 13180 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 MT 13180 13180 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.844 p.A282T NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 187 0 0.00 11 116 91.34 MYH1 0 genome.wustl.edu 37 17 10404059 10404059 + Missense_Mutation SNP T T A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 17 10404059 10404059 T A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.3749 p.E1250V 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 159 0 0.00 26 47 64.38 MYH2 0 genome.wustl.edu 37 17 10443928 10443928 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 17 10443928 10443928 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.991 p.E331K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 65 0 0.00 19 21 52.50 MYO10 0 genome.wustl.edu 37 5 16675243 16675243 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 16675243 16675243 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known silent c.4683 p.G1561 1.000 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 tier1 - - 39 0 0.00 32 4 11.11 NALCN 0 genome.wustl.edu 37 13 101735176 101735176 + Missense_Mutation SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 13 101735176 101735176 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.3749 p.F1250S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 140 0 0.00 40 82 67.21 NAV3 0 genome.wustl.edu 37 12 78511871 78511871 + Missense_Mutation SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 78511871 78511871 A G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.2834 p.K945R 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 278 0 0.00 138 83 37.56 NBN 0 genome.wustl.edu 37 8 90965675 90965675 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 90965675 90965675 T C SNP NBN ENST00000265433 human ensembl 74_37 -1 known missense c.1642 p.N548D 0.089 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 tier1 - - 221 0 0.00 98 80 44.94 NGF 0 genome.wustl.edu 37 1 115829231 115829231 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 115829231 115829231 G A SNP NGF ENST00000369512 human ensembl 74_37 -1 known silent c.186 p.R62 0.001 pirsf_Nerve_growth_factor-like pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 tier1 - - 81 0 0.00 41 23 35.94 NOL9 0 genome.wustl.edu 37 1 6586797 6586797 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 6586797 6586797 C T SNP NOL9 ENST00000377705 human ensembl 74_37 -1 known missense c.1918 p.V640I 0.006 pfam_Pre-mRNA_cleavage_cplxII_Clp1 pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 tier1 - - 147 0 0.00 82 53 39.26 NOVA1 0 genome.wustl.edu 37 14 26917982 26917982 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 14 26917982 26917982 A C SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.707 p.L236R 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 tier1 - - 210 0 0.00 171 36 17.39 NRG1 0 genome.wustl.edu 37 8 32617888 32617888 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 32617888 32617888 C T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.1256 p.T419I 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 360 0 0.00 155 63 28.90 NRROS 0 genome.wustl.edu 37 3 196386901 196386901 + Silent SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 3 196386901 196386901 C T SNP NRROS ENST00000328557 human ensembl 74_37 +1 known silent c.387 p.H129 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 tier1 - - 50 0 0.00 36 14 28.00 NRXN2 0 genome.wustl.edu 37 11 64390363 64390363 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 64390363 64390363 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.4035 p.S1345 1.000 pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 tier1 - - 47 0 0.00 18 14 43.75 NTHL1 0 genome.wustl.edu 37 16 2096247 2096247 + Nonsense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 16 2096247 2096247 C T SNP NTHL1 ENST00000219066 human ensembl 74_37 -1 known nonsense c.260 p.W87* 1.000 NULL pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 tier1 - - 207 0 0.00 129 58 31.02 NUP107 0 genome.wustl.edu 37 12 69126365 69126366 + RNA INS - - A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 69126365 69126366 - A INS NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NUP107 HGNC ENSG00000111581 tier1 17 0 0.00 12 2 14.29 OCLN 0 genome.wustl.edu 37 5 68840732 68840732 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 68840732 68840732 G A SNP OCLN ENST00000355237 human ensembl 74_37 +1 known missense c.1039 p.V347I 0.997 pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 tier1 - - 16 0 0.00 7 5 41.67 OR1A1 0 genome.wustl.edu 37 17 3119443 3119443 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 17 3119443 3119443 T G SNP OR1A1 ENST00000304094 human ensembl 74_37 +1 known missense c.529 p.F177V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC ENSG00000172146 tier1 - - 189 0 0.00 42 46 52.27 OR2G3 0 genome.wustl.edu 37 1 247769153 247769153 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 247769153 247769153 A C SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.266 p.K89T 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 tier1 - - 472 0 0.00 237 100 29.67 OR4P4 0 genome.wustl.edu 37 11 55405981 55405981 + Missense_Mutation SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 55405981 55405981 A G SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known missense c.148 p.T50A 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 tier1 - - 85 0 0.00 24 55 69.62 OR51I1 0 genome.wustl.edu 37 11 5462106 5462106 + Silent SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 5462106 5462106 T C SNP OR51I1 ENST00000380211 human ensembl 74_37 -1 known silent c.639 p.S213 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 tier1 - - 62 0 0.00 11 10 47.62 OR5H14 0 genome.wustl.edu 37 3 97868802 97868802 + Silent SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 3 97868802 97868802 T C SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known silent c.573 p.D191 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 tier1 - - 128 0 0.00 71 29 29.00 PARK2 0 genome.wustl.edu 37 6 161966461 161966461 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 161966461 161966461 T G SNP PARK2 ENST00000366892 human ensembl 74_37 -1 known missense c.1092 p.Q364H 0.003 pirsf_Parkin pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 tier1 - - 36 0 0.00 22 16 42.11 PBXIP1 0 genome.wustl.edu 37 1 154920838 154920838 + Missense_Mutation SNP C C G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 154920838 154920838 C G SNP PBXIP1 ENST00000368460 human ensembl 74_37 -1 putative missense c.414 p.W138C 0.234 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 tier1 - - 27 0 0.00 12 5 29.41 PCDHB15 0 genome.wustl.edu 37 5 140627111 140627111 + Silent SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 140627111 140627111 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known silent c.1965 p.T655 0.683 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 PCDHB15 HGNC ENSG00000113248 tier1 - - 178 0 0.00 86 48 35.82 PCDHGA12 0 genome.wustl.edu 37 5 140811791 140811791 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 140811791 140811791 T C SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1465 p.Y489H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 126 0 0.00 68 4 5.56 POLR3A 0 genome.wustl.edu 37 10 79784760 79784760 + Silent SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 10 79784760 79784760 T C SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known silent c.459 p.K153 0.429 pfam_RNA_pol_Rpb1_1 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 - - 153 0 0.00 58 53 47.75 POSTN 0 genome.wustl.edu 37 13 38158874 38158874 + Missense_Mutation SNP G G T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 13 38158874 38158874 G T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1087 p.Q363K 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 89 0 0.00 24 50 66.67 PZP 0 genome.wustl.edu 37 12 9317804 9317804 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 9317804 9317804 G A SNP PZP ENST00000261336 human ensembl 74_37 -1 known silent c.2418 p.Y806 1.000 pfam_Macroglobln_a2,pfam_SV_autoAg pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 209 0 0.00 82 29 25.89 RIMS2 0 genome.wustl.edu 37 8 104898169 104898169 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 104898169 104898169 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1342 p.L448V 0.117 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 142 0 0.00 97 7 6.73 RIMS2 0 genome.wustl.edu 37 8 105263950 105263950 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 105263950 105263950 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3952 p.P1318S 1.000 superfamily_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 306 0 0.00 230 16 6.48 SCN2A 0 genome.wustl.edu 37 2 166166923 166166923 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 166166923 166166923 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.788 p.A263V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 230 0 0.00 73 30 29.13 SEMA5A 0 genome.wustl.edu 37 5 9054242 9054242 + Silent SNP C C A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 9054242 9054242 C A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.2646 p.G882 0.515 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 tier1 - - 137 0 0.00 51 35 40.70 SLC35E2 0 genome.wustl.edu 37 1 1669783 1669783 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 1669783 1669783 C T SNP SLC35E2 ENST00000246421 human ensembl 74_37 -1 known missense c.563 p.R188Q 1.000 pfam_DMT pfam_DMT - no_errors SLC35E2 HGNC ENSG00000215790 tier1 - - 39 0 0.00 26 6 18.75 SLC44A5 0 genome.wustl.edu 37 1 75708644 75708644 + Missense_Mutation SNP A A T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 75708644 75708644 A T SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known missense c.398 p.L133H 0.000 NULL pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 tier1 - - 182 0 0.00 128 9 6.57 SLC9C2 0 genome.wustl.edu 37 1 173506126 173506126 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 173506126 173506126 C T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.1610 p.R537Q 1.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 - - 292 0 0.00 166 63 27.51 SLIT2 0 genome.wustl.edu 37 4 20487826 20487826 + Silent SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 4 20487826 20487826 T C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.543 p.T181 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 65 0 0.00 32 20 38.46 SLITRK6 0 genome.wustl.edu 37 13 86368164 86368164 + Nonsense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 13 86368164 86368164 A C SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known nonsense c.2480 p.L827* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 tier1 - - 114 0 0.00 33 72 67.92 SMARCA2 0 genome.wustl.edu 37 9 2086956 2086956 + Missense_Mutation SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 9 2086956 2086956 A G SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.2654 p.Q885R 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 181 0 0.00 48 42 46.67 SMYD2 0 genome.wustl.edu 37 1 214507652 214507652 + Splice_Site SNP G G T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 214507652 214507652 G T SNP SMYD2 ENST00000366957 human ensembl 74_37 +1 known splice_site c.1221+1 e11+1 1.000 - - - no_errors SMYD2 HGNC ENSG00000143499 tier1 - - 107 0 0.00 65 34 34.34 SNAPC4 0 genome.wustl.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 9 139277995 139277997 GCT - DEL SNAPC4 ENST00000298532 human ensembl 74_37 -1 known in_frame_del c.1626_1624 p.S542in_frame_del 0.000:0.005:0.005 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 tier1 25 0 0.00 8 2 20.00 SNCAIP 0 genome.wustl.edu 37 5 121787257 121787257 + Silent SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 121787257 121787257 A G SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known silent c.2856 p.G952 0.945 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 tier1 - - 155 0 0.00 85 24 22.02 SPANXN1 0 genome.wustl.edu 37 X 144337215 144337215 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 X 144337215 144337215 T G SNP SPANXN1 ENST00000370493 human ensembl 74_37 +1 known missense c.100 p.L34V 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN1 HGNC ENSG00000203923 tier1 - - 79 0 0.00 70 6 7.89 SPEF2 0 genome.wustl.edu 37 5 35771827 35771827 + Silent SNP C C G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 35771827 35771827 C G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known silent c.3918 p.P1306 0.488 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 82 0 0.00 52 23 30.26 TENM4 0 genome.wustl.edu 37 11 78383110 78383110 + Missense_Mutation SNP C C G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 78383110 78383110 C G SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5761 p.G1921R 1.000 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 44 0 0.00 31 18 36.73 TFAP4 0 genome.wustl.edu 37 16 4311805 4311805 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 16 4311805 4311805 G A SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.500 p.S167L 0.998 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 tier1 - - 38 0 0.00 21 11 34.38 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 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 rs28934578 - 118 0 0.00 17 30 63.83 TRIM67 0 genome.wustl.edu 37 1 231334899 231334899 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 231334899 231334899 G A SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.1247 p.R416K 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 tier1 - - 111 0 0.00 69 41 37.27 TTN 0 genome.wustl.edu 37 2 179398543 179398543 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 179398543 179398543 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.95095 p.K31699E 1.000 pfam_Ig_I-set,superfamily_Kinase-like_dom,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 - - 93 0 0.00 32 14 30.43 TTN 0 genome.wustl.edu 37 2 179650412 179650412 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 179650412 179650412 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.2428 p.R810C 1.000 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 - - 122 0 0.00 30 37 55.22 UBASH3B 0 genome.wustl.edu 37 11 122678832 122678832 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 122678832 122678832 T C SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known missense c.1760 p.L587P 0.991 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 tier1 - - 517 0 0.00 408 32 7.26 WDR72 0 genome.wustl.edu 37 15 53957776 53957776 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 15 53957776 53957776 G A SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.1955 p.S652L 0.975 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 tier1 - - 146 0 0.00 64 25 28.09 WDR93 0 genome.wustl.edu 37 15 90281346 90281346 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 15 90281346 90281346 G A SNP WDR93 ENST00000268130 human ensembl 74_37 +1 known missense c.1840 p.A614T 0.529 NULL superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 tier1 - - 579 0 0.00 284 356 55.62 XPOT 0 genome.wustl.edu 37 12 64825385 64825385 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 64825385 64825385 G A SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.2044 p.D682N 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 tier1 - - 139 0 0.00 52 40 43.48 ZIM3 0 genome.wustl.edu 37 19 57646367 57646367 + Silent SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 19 57646367 57646367 A C SNP ZIM3 ENST00000269834 human ensembl 74_37 -1 known silent c.1338 p.P446 0.690 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 ZIM3 HGNC ENSG00000141946 tier1 - - 218 0 0.00 58 75 56.39 ZNF2 0 genome.wustl.edu 37 2 95847590 95847590 + Missense_Mutation SNP C C A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 95847590 95847590 C A SNP ZNF2 ENST00000340539 human ensembl 74_37 +1 known missense c.1017 p.D339E 0.994 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 ZNF2 HGNC ENSG00000163067 tier1 - - 149 0 0.00 53 42 44.21 ZNF213 0 genome.wustl.edu 37 16 3191192 3191192 + Missense_Mutation SNP G G C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 16 3191192 3191192 G C SNP ZNF213 ENST00000396878 human ensembl 74_37 +1 known missense c.1224 p.K408N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 tier1 - - 134 0 0.00 60 27 31.03 ZNF460 0 genome.wustl.edu 37 19 57802484 57802484 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 19 57802484 57802484 G A SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known missense c.575 p.R192H 0.041 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 ZNF460 HGNC ENSG00000197714 tier1 - - 163 0 0.00 78 6 7.06 ZNF71 0 genome.wustl.edu 37 19 57133949 57133949 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 19 57133949 57133949 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.1294 p.H432Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 tier1 - - 132 0 0.00 31 41 56.94 AMY2B 0 genome.wustl.edu 37 1 104117873 104117873 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 104117873 104117873 C T SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.907 p.P303S 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 698 0 0 435 119 21.4801 NGF 0 genome.wustl.edu 37 1 115829231 115829231 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 115829231 115829231 G A SNP NGF ENST00000369512 human ensembl 74_37 -1 known silent c.186 p.R62 0.001 pirsf_Nerve_growth_factor-like pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 78 0 0 37 23 38.3333 LCE1D 0 genome.wustl.edu 37 1 152770271 152770271 + Missense_Mutation SNP A A T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 152770271 152770271 A T SNP LCE1D ENST00000326233 human ensembl 74_37 +1 known missense c.1 p.M1L 0.963 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 77 0 0 88 7 7.36842 PBXIP1 0 genome.wustl.edu 37 1 154920838 154920838 + Missense_Mutation SNP C C G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 154920838 154920838 C G SNP PBXIP1 ENST00000368460 human ensembl 74_37 -1 putative missense c.414 p.W138C 0.234 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 25 0 0 12 5 29.4118 ADCY10 0 genome.wustl.edu 37 1 167793761 167793761 + Silent SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 167793761 167793761 A G SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known silent c.4005 p.H1335 0.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 300 0 0 211 88 29.4314 CROCCP3 0 genome.wustl.edu 37 1 16810948 16810948 + RNA SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 16810948 16810948 C T SNP CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 0.239 - - - no_errors CROCCP3 HGNC ENSG00000080947 22 0 0 13 12 48 SLC9C2 0 genome.wustl.edu 37 1 173506126 173506126 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 173506126 173506126 C T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.1610 p.R537Q 1.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 242 0 0 134 57 29.8429 SMYD2 0 genome.wustl.edu 37 1 214507652 214507652 + Splice_Site SNP G G T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 214507652 214507652 G T SNP SMYD2 ENST00000366957 human ensembl 74_37 +1 known splice_site c.1221+1 e11+1 1.000 - - - no_errors SMYD2 HGNC ENSG00000143499 101 0 0 60 32 34.7826 TRIM67 0 genome.wustl.edu 37 1 231334899 231334899 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 231334899 231334899 G A SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.1247 p.R416K 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 107 0 0 67 37 35.5769 OR2G3 0 genome.wustl.edu 37 1 247769153 247769153 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 247769153 247769153 A C SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.266 p.K89T 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 415 0 0 213 94 30.6189 JAK1 0 genome.wustl.edu 37 1 65303751 65303751 + Silent SNP G G T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 65303751 65303751 G T SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known silent c.3004 p.R1002 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 63 0 0 43 3 6.52174 NOL9 0 genome.wustl.edu 37 1 6586797 6586797 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 6586797 6586797 C T SNP NOL9 ENST00000377705 human ensembl 74_37 -1 known missense c.1918 p.V640I 0.006 pfam_Pre-mRNA_cleavage_cplxII_Clp1 pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 130 0 0 73 50 40.6504 LRRC7 0 genome.wustl.edu 37 1 70501851 70501851 + Missense_Mutation SNP C C G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 70501851 70501851 C G SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.1929 p.H643Q 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 65 0 0 52 3 5.45455 LRRC7 0 genome.wustl.edu 37 1 70504189 70504189 + Silent SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 70504189 70504189 C T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.2568 p.T856 0.345 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 177 0 0 81 42 34.1463 SLC44A5 0 genome.wustl.edu 37 1 75708644 75708644 + Missense_Mutation SNP A A T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 75708644 75708644 A T SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known missense c.398 p.L133H 0.000 NULL pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 173 0 0 123 8 6.10687 LPHN2 0 genome.wustl.edu 37 1 82456692 82456692 + Missense_Mutation SNP G G T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 1 82456692 82456692 G T SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.4288 p.A1430S 0.999 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 82 0 0 38 20 34.4828 EBF3 0 genome.wustl.edu 37 10 131639252 131639252 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 10 131639252 131639252 C T SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.1417 p.V473I 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 201 0 0 100 25 20 BICC1 0 genome.wustl.edu 37 10 60546814 60546814 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 10 60546814 60546814 G A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known silent c.519 p.R173 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 71 0 0 41 25 37.8788 ARID5B 0 genome.wustl.edu 37 10 63817033 63817033 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 10 63817033 63817033 G A SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.1004 p.R335K 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 197 1 0.505051 43 47 52.2222 CDH23 0 genome.wustl.edu 37 10 73485245 73485245 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 10 73485245 73485245 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.3562 p.H1188Y 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 45 0 0 26 4 13.3333 POLR3A 0 genome.wustl.edu 37 10 79784760 79784760 + Silent SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 10 79784760 79784760 T C SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known silent c.459 p.K153 0.429 pfam_RNA_pol_Rpb1_1 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 136 0 0 49 46 48.4211 CBL 0 genome.wustl.edu 37 11 119155732 119155732 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 119155732 119155732 G A SNP CBL ENST00000264033 human ensembl 74_37 +1 known silent c.1485 p.P495 0.749 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 117 0 0 60 57 48.7179 UBASH3B 0 genome.wustl.edu 37 11 122678832 122678832 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 122678832 122678832 T C SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known missense c.1760 p.L587P 0.991 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 461 0 0 361 30 7.67263 LUZP2 0 genome.wustl.edu 37 11 24927590 24927590 + Silent SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 24927590 24927590 C T SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known silent c.450 p.H150 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 81 0 0 135 12 8.16327 OR51I1 0 genome.wustl.edu 37 11 5462106 5462106 + Silent SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 5462106 5462106 T C SNP OR51I1 ENST00000380211 human ensembl 74_37 -1 known silent c.639 p.S213 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 55 0 0 11 9 45 OR4P4 0 genome.wustl.edu 37 11 55405981 55405981 + Missense_Mutation SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 55405981 55405981 A G SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known missense c.148 p.T50A 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 74 0 0 21 53 71.6216 NRXN2 0 genome.wustl.edu 37 11 64390363 64390363 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 64390363 64390363 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.4035 p.S1345 1.000 pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 42 0 0 17 14 45.1613 TENM4 0 genome.wustl.edu 37 11 78383110 78383110 + Missense_Mutation SNP C C G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 78383110 78383110 C G SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5761 p.G1921R 1.000 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 37 0 0 27 17 38.6364 MAML2 0 genome.wustl.edu 37 11 95826033 95826033 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 11 95826033 95826033 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known missense c.1162 p.G388S 0.999 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 27 0 0 17 6 26.087 ANO6 0 genome.wustl.edu 37 12 45822905 45822905 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 45822905 45822905 G A SNP ANO6 ENST00000320560 human ensembl 74_37 +1 known silent c.2544 p.V848 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 59 0 0 32 14 30.4348 KCNA5 0 genome.wustl.edu 37 12 5154187 5154187 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 5154187 5154187 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.874 p.P292S 0.091 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 158 0 0 78 7 8.23529 ANO2 0 genome.wustl.edu 37 12 5724441 5724441 + Silent SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 5724441 5724441 A G SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known silent c.1842 p.T614 0.999 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 43 0 0 12 9 42.8571 XPOT 0 genome.wustl.edu 37 12 64825385 64825385 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 64825385 64825385 G A SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.2044 p.D682N 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 121 0 0 50 36 41.8605 NAV3 0 genome.wustl.edu 37 12 78511871 78511871 + Missense_Mutation SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 78511871 78511871 A G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.2834 p.K945R 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 237 0 0 117 68 36.7568 LIN7A 0 genome.wustl.edu 37 12 81205324 81205324 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 81205324 81205324 G A SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.622 p.R208C 1.000 pirsf_Lin-7_homologue pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 62 0 0 26 8 23.5294 ACSS3 0 genome.wustl.edu 37 12 81472136 81472136 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 81472136 81472136 A C SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.237 p.K79N 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 103 0 0 59 33 35.8696 PZP 0 genome.wustl.edu 37 12 9317804 9317804 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 12 9317804 9317804 G A SNP PZP ENST00000261336 human ensembl 74_37 -1 known silent c.2418 p.Y806 1.000 pfam_Macroglobln_a2,pfam_SV_autoAg pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 190 0 0 73 28 27.7228 NALCN 0 genome.wustl.edu 37 13 101735176 101735176 + Missense_Mutation SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 13 101735176 101735176 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.3749 p.F1250S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 122 0 0 34 68 66.6667 SPATA13 0 genome.wustl.edu 37 13 24871640 24871640 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 13 24871640 24871640 G A SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known missense c.3350 p.R1117H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 106 0 0 87 5 5.43478 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36776025 36776025 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 13 36776025 36776025 T G SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.485 p.K162T 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 84 0 0 24 44 64.7059 POSTN 0 genome.wustl.edu 37 13 38158874 38158874 + Missense_Mutation SNP G G T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 13 38158874 38158874 G T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1087 p.Q363K 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 77 0 0 22 44 66.6667 SLITRK6 0 genome.wustl.edu 37 13 86368164 86368164 + Nonsense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 13 86368164 86368164 A C SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known nonsense c.2480 p.L827* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 106 0 0 32 67 67.6768 ENSG00000244306 0 genome.wustl.edu 37 14 19856879 19856879 + RNA SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 14 19856879 19856879 T G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 64 0 0 44 4 8.33333 NOVA1 0 genome.wustl.edu 37 14 26917982 26917982 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 14 26917982 26917982 A C SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.707 p.L236R 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 195 0 0 155 33 17.5532 CCDC88C 0 genome.wustl.edu 37 14 91757380 91757380 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 14 91757380 91757380 T G SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.4161 p.K1387N 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 15 0 0 14 6 30 MKRN3 0 genome.wustl.edu 37 15 23811021 23811021 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 15 23811021 23811021 A C SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.92 p.D31A 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 85 0 0 19 18 48.6486 LTK 0 genome.wustl.edu 37 15 41805199 41805199 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 15 41805199 41805199 G A SNP LTK ENST00000263800 human ensembl 74_37 -1 known missense c.163 p.P55S 0.041 NULL 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 LTK HGNC ENSG00000062524 61 0 0 14 29 67.4419 WDR72 0 genome.wustl.edu 37 15 53957776 53957776 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 15 53957776 53957776 G A SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.1955 p.S652L 0.975 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 123 0 0 53 22 29.3333 WDR93 0 genome.wustl.edu 37 15 90281346 90281346 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 15 90281346 90281346 G A SNP WDR93 ENST00000268130 human ensembl 74_37 +1 known missense c.1840 p.A614T 0.529 NULL superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 538 0 0 265 330 55.4622 NTHL1 0 genome.wustl.edu 37 16 2096247 2096247 + Nonsense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 16 2096247 2096247 C T SNP NTHL1 ENST00000219066 human ensembl 74_37 -1 known nonsense c.260 p.W87* 1.000 NULL pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 188 0 0 116 52 30.9524 ZNF213 0 genome.wustl.edu 37 16 3191192 3191192 + Missense_Mutation SNP G G C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 16 3191192 3191192 G C SNP ZNF213 ENST00000396878 human ensembl 74_37 +1 known missense c.1224 p.K408N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 119 0 0 54 27 33.3333 TFAP4 0 genome.wustl.edu 37 16 4311805 4311805 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 16 4311805 4311805 G A SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.500 p.S167L 0.998 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 37 0 0 19 11 36.6667 CDH11 0 genome.wustl.edu 37 16 64981960 64981960 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 16 64981960 64981960 T C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1937 p.E646G 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 143 0 0 22 31 58.4906 CDH3 0 genome.wustl.edu 37 16 68718524 68718524 + Silent SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 16 68718524 68718524 C T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known silent c.1221 p.Y407 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 448 0 0 122 178 59.3333 MYH1 0 genome.wustl.edu 37 17 10404059 10404059 + Missense_Mutation SNP T T A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 17 10404059 10404059 T A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.3749 p.E1250V 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 131 0 0 21 44 67.6923 MYH2 0 genome.wustl.edu 37 17 10443928 10443928 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 17 10443928 10443928 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.991 p.E331K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 58 0 0 14 21 60 OR1A1 0 genome.wustl.edu 37 17 3119443 3119443 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 17 3119443 3119443 T G SNP OR1A1 ENST00000304094 human ensembl 74_37 +1 known missense c.529 p.F177V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC ENSG00000172146 178 0 0 41 46 52.8736 KIF2B 0 genome.wustl.edu 37 17 51900905 51900905 + Nonsense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 17 51900905 51900905 C T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known nonsense c.511 p.R171* 0.862 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 182 1 0.546448 70 34 32.6923 ATP1B2 0 genome.wustl.edu 37 17 7554837 7554837 + Missense_Mutation SNP A A T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 17 7554837 7554837 A T SNP ATP1B2 ENST00000250111 human ensembl 74_37 +1 known missense c.1 p.M1L 1.000 pfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B2 HGNC ENSG00000129244 22 0 0 7 9 56.25 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 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 104 0 0 17 27 61.3636 CCDC178 0 genome.wustl.edu 37 18 30928930 30928930 + Silent SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 18 30928930 30928930 A C SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known silent c.381 p.T127 0.003 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 72 0 0 17 14 45.1613 DNMT1 0 genome.wustl.edu 37 19 10262102 10262102 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 19 10262102 10262102 C T SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.2237 p.R746H 0.989 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 232 0 0 108 28 20.5882 ZNF71 0 genome.wustl.edu 37 19 57133949 57133949 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 19 57133949 57133949 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.1294 p.H432Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 120 0 0 29 39 57.3529 ZIM3 0 genome.wustl.edu 37 19 57646367 57646367 + Silent SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 19 57646367 57646367 A C SNP ZIM3 ENST00000269834 human ensembl 74_37 -1 known silent c.1338 p.P446 0.690 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 ZIM3 HGNC ENSG00000141946 206 0 0 53 64 54.7009 ZNF460 0 genome.wustl.edu 37 19 57802484 57802484 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 19 57802484 57802484 G A SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known missense c.575 p.R192H 0.041 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 ZNF460 HGNC ENSG00000197714 144 0 0 69 6 8 MARCH7 0 genome.wustl.edu 37 2 160604515 160604515 + Silent SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 160604515 160604515 G A SNP MARCH7 ENST00000259050 human ensembl 74_37 +1 known silent c.714 p.T238 0.431 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 69 0 0 20 25 55.5556 SCN2A 0 genome.wustl.edu 37 2 166166923 166166923 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 166166923 166166923 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.788 p.A263V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 217 0 0 72 30 29.4118 TTN 0 genome.wustl.edu 37 2 179398543 179398543 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 179398543 179398543 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.95095 p.K31699E 1.000 pfam_Ig_I-set,superfamily_Kinase-like_dom,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 84 0 0 30 13 30.2326 TTN 0 genome.wustl.edu 37 2 179650412 179650412 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 179650412 179650412 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.2428 p.R810C 1.000 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 114 0 0 27 35 56.4516 KCNS3 0 genome.wustl.edu 37 2 18112403 18112403 + Missense_Mutation SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 18112403 18112403 A G SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.128 p.K43R 0.101 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 149 0 0 86 21 19.6262 CTNNA2 0 genome.wustl.edu 37 2 80874873 80874873 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 80874873 80874873 A C SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2696 p.K899T 1.000 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 308 0 0 121 85 41.2621 ZNF2 0 genome.wustl.edu 37 2 95847590 95847590 + Missense_Mutation SNP C C A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 2 95847590 95847590 C A SNP ZNF2 ENST00000340539 human ensembl 74_37 +1 known missense c.1017 p.D339E 0.994 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 ZNF2 HGNC ENSG00000163067 134 0 0 53 40 43.0108 BTBD3 0 genome.wustl.edu 37 20 11899126 11899126 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 20 11899126 11899126 C T SNP BTBD3 ENST00000378226 human ensembl 74_37 +1 known missense c.203 p.P68L 1.000 NULL pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 295 0 0 228 13 5.39419 CSE1L 0 genome.wustl.edu 37 20 47679790 47679790 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 20 47679790 47679790 T C SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known missense c.137 p.L46P 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 80 0 0 45 37 45.122 ARHGAP8 0 genome.wustl.edu 37 22 45244839 45244839 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 22 45244839 45244839 G A SNP ARHGAP8 ENST00000517296 human ensembl 74_37 +1 known missense c.1406 p.G469E 0.788 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP8 HGNC ENSG00000241484 265 0 0 140 11 7.28477 HGD 0 genome.wustl.edu 37 3 120360524 120360524 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 3 120360524 120360524 T C SNP HGD ENST00000283871 human ensembl 74_37 -1 known missense c.791 p.N264S 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 149 0 0 78 45 36.5854 MED12L 0 genome.wustl.edu 37 3 151082848 151082848 + Missense_Mutation SNP C C A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 3 151082848 151082848 C A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.2934 p.F978L 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 279 0 0 126 94 42.7273 NRROS 0 genome.wustl.edu 37 3 196386901 196386901 + Silent SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 3 196386901 196386901 C T SNP NRROS ENST00000328557 human ensembl 74_37 +1 known silent c.387 p.H129 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 46 0 0 31 14 31.1111 DYNC1LI1 0 genome.wustl.edu 37 3 32576070 32576070 + Missense_Mutation SNP C C G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 3 32576070 32576070 C G SNP DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known missense c.901 p.V301L 0.995 pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 107 0 0 48 32 40 OR5H14 0 genome.wustl.edu 37 3 97868802 97868802 + Silent SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 3 97868802 97868802 T C SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known silent c.573 p.D191 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 119 0 0 67 27 28.7234 HSP90AB2P 0 genome.wustl.edu 37 4 13338210 13338210 + RNA SNP C C G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 4 13338210 13338210 C G SNP HSP90AB2P ENST00000602906 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AB2P HGNC ENSG00000205940 98 0 0 57 20 25.974 ABCE1 0 genome.wustl.edu 37 4 146032188 146032188 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 4 146032188 146032188 G A SNP ABCE1 ENST00000296577 human ensembl 74_37 +1 known missense c.682 p.A228T 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 101 0 0 66 36 35.2941 SLIT2 0 genome.wustl.edu 37 4 20487826 20487826 + Silent SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 4 20487826 20487826 T C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.543 p.T181 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 56 0 0 30 19 38.7755 MFSD7 0 genome.wustl.edu 37 4 677412 677412 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 4 677412 677412 C T SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known missense c.982 p.V328M 0.406 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 31 0 0 19 7 26.9231 FRAS1 0 genome.wustl.edu 37 4 79437046 79437046 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 4 79437046 79437046 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.10268 p.P3423L 0.856 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 106 0 0 50 19 27.5362 SNCAIP 0 genome.wustl.edu 37 5 121787257 121787257 + Silent SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 121787257 121787257 A G SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known silent c.2856 p.G952 0.945 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 137 0 0 78 22 22 PCDHGA12 0 genome.wustl.edu 37 5 140811791 140811791 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 140811791 140811791 T C SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1465 p.Y489H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 124 0 0 67 4 5.6338 SPEF2 0 genome.wustl.edu 37 5 35771827 35771827 + Silent SNP C C G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 35771827 35771827 C G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known silent c.3918 p.P1306 0.488 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 73 0 0 47 23 32.8571 CAPSL 0 genome.wustl.edu 37 5 35910552 35910552 + Missense_Mutation SNP T T A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 35910552 35910552 T A SNP CAPSL ENST00000397366 human ensembl 74_37 -1 known missense c.231 p.K77N 0.984 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors CAPSL HGNC ENSG00000152611 132 0 0 72 26 26.5306 C5orf64 0 genome.wustl.edu 37 5 60999793 60999793 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 60999793 60999793 T C SNP C5orf64 ENST00000313303 human ensembl 74_37 +1 known missense c.326 p.M109T 0.011 NULL NULL - no_errors C5orf64 HGNC ENSG00000178722 26 0 0 16 13 44.8276 SEMA5A 0 genome.wustl.edu 37 5 9054242 9054242 + Silent SNP C C A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 5 9054242 9054242 C A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.2646 p.G882 0.515 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 131 0 0 50 34 40.4762 GRM1 0 genome.wustl.edu 37 6 146351321 146351321 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 146351321 146351321 A C SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.668 p.N223T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 108 0 0 61 27 30.6818 LPA 0 genome.wustl.edu 37 6 161071376 161071376 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 161071376 161071376 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.203 p.P68L 0.995 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 314 1 0.31746 168 86 33.8583 PARK2 0 genome.wustl.edu 37 6 161966461 161966461 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 161966461 161966461 T G SNP PARK2 ENST00000366892 human ensembl 74_37 -1 known missense c.1092 p.Q364H 0.003 pirsf_Parkin pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 29 0 0 20 11 35.4839 GPX5 0 genome.wustl.edu 37 6 28501818 28501818 + Silent SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 28501818 28501818 T C SNP GPX5 ENST00000412168 human ensembl 74_37 +1 known silent c.540 p.R180 0.984 superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase - no_errors GPX5 HGNC ENSG00000224586 186 0 0 108 65 37.5723 DHX16 0 genome.wustl.edu 37 6 30633305 30633305 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 30633305 30633305 T C SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known missense c.872 p.K291R 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 148 0 0 192 27 12.3288 COL19A1 0 genome.wustl.edu 37 6 70875860 70875860 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 70875860 70875860 G A SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.2428 p.G810R 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 210 0 0 115 66 36.4641 EPHA7 0 genome.wustl.edu 37 6 93979254 93979254 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 6 93979254 93979254 T G SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.1574 p.N525T 0.959 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 146 0 0 75 53 41.4062 GIMAP6 0 genome.wustl.edu 37 7 150325453 150325453 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 7 150325453 150325453 G A SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known missense c.233 p.T78I 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 319 0 0 87 94 51.9337 AMPH 0 genome.wustl.edu 37 7 38574555 38574555 + Nonsense_Mutation SNP A A T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 7 38574555 38574555 A T SNP AMPH ENST00000356264 human ensembl 74_37 -1 known nonsense c.126 p.Y42* 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 96 0 0 48 26 35.1351 LAT2 0 genome.wustl.edu 37 7 73630393 73630393 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 7 73630393 73630393 C T SNP LAT2 ENST00000275635 human ensembl 74_37 +1 known missense c.88 p.R30C 0.729 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 93 0 0 46 26 36.1111 RIMS2 0 genome.wustl.edu 37 8 104898169 104898169 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 104898169 104898169 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1342 p.L448V 0.117 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 117 0 0 81 6 6.89655 RIMS2 0 genome.wustl.edu 37 8 105263950 105263950 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 105263950 105263950 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3952 p.P1318S 1.000 superfamily_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 263 0 0 209 14 6.27803 LRP12 0 genome.wustl.edu 37 8 105503760 105503760 + Missense_Mutation SNP A A C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 105503760 105503760 A C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1664 p.V555G 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 90 0 0 38 38 50 ADCY8 0 genome.wustl.edu 37 8 131861873 131861873 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 131861873 131861873 T G SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2387 p.N796T 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 72 0 0 49 3 5.76923 NRG1 0 genome.wustl.edu 37 8 32617888 32617888 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 32617888 32617888 C T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.1256 p.T419I 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 323 0 0 143 58 28.8557 CSMD1 0 genome.wustl.edu 37 8 3267129 3267129 + Splice_Site SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 3267129 3267129 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known splice_site c.1565-2 e14-2 1.000 - - - no_errors CSMD1 HGNC ENSG00000183117 19 0 0 9 5 35.7143 CRISPLD1 0 genome.wustl.edu 37 8 75928831 75928831 + Silent SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 75928831 75928831 A G SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known silent c.759 p.E253 1.000 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 196 0 0 111 39 26 NBN 0 genome.wustl.edu 37 8 90965675 90965675 + Missense_Mutation SNP T T C TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 8 90965675 90965675 T C SNP NBN ENST00000265433 human ensembl 74_37 -1 known missense c.1642 p.N548D 0.089 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 195 0 0 94 73 43.7126 KIF12 0 genome.wustl.edu 37 9 116856200 116856200 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 9 116856200 116856200 G A SNP KIF12 ENST00000374118 human ensembl 74_37 -1 known missense c.952 p.R318C 0.837 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC ENSG00000136883 69 0 0 33 4 10.8108 SMARCA2 0 genome.wustl.edu 37 9 2086956 2086956 + Missense_Mutation SNP A A G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 9 2086956 2086956 A G SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.2654 p.Q885R 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 160 0 0 45 39 46.4286 MT-ND5 0 genome.wustl.edu 37 MT 13180 13180 + Missense_Mutation SNP G G A TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 MT 13180 13180 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.844 p.A282T NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 156 0 0 8 95 92.233 GPRASP1 0 genome.wustl.edu 37 X 101912053 101912053 + Missense_Mutation SNP C C T TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 X 101912053 101912053 C T SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.3212 p.P1071L 0.001 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 192 0 0 61 106 63.4731 SPANXN1 0 genome.wustl.edu 37 X 144337215 144337215 + Missense_Mutation SNP T T G TCGA-IN-A6RI-01A-11D-A32N-08 TCGA-IN-A6RI-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a6d55473-743f-4fa0-a5c9-0b4f1e3a3552 ec04a2a5-31fa-4b06-9055-ef4bcdc1cfa3 X 144337215 144337215 T G SNP SPANXN1 ENST00000370493 human ensembl 74_37 +1 known missense c.100 p.L34V 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN1 HGNC ENSG00000203923 75 0 0 62 5 7.46269