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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ADAMTS14 0 genome.wustl.edu 37 10 72434406 72434407 + Frame_Shift_Del DEL CC CC - TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 10 72434406 72434407 CC - DEL ADAMTS14 ENST00000373208 human ensembl 69_37n +1 known frame_shift_del c.177_178 p.P60fs 0.840:0.994 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 10 0 0.00 9 7 43.75 - - - AKR7A3 0 genome.wustl.edu 37 1 19612756 19612756 + Missense_Mutation SNP G G C TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 1 19612756 19612756 G C SNP AKR7A3 ENST00000361640 human ensembl 69_37n -1 known missense c.325 p.L109V 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 43 0 0.00 53 16 23.19 - - - ARHGEF17 0 genome.wustl.edu 37 11 73022275 73022275 + Silent SNP C C T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 11 73022275 73022275 C T SNP ARHGEF17 ENST00000263674 human ensembl 69_37n +1 known silent c.2592 p.P864 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 19 0 0.00 11 5 31.25 - - - AWAT1 0 genome.wustl.edu 37 X 69459689 69459689 + Missense_Mutation SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 X 69459689 69459689 G A SNP AWAT1 ENST00000374521 human ensembl 69_37n +1 known missense c.737 p.R246H 0.000 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 367 0 0.00 287 87 23.26 - - - BMS1 0 genome.wustl.edu 37 10 43287948 43287948 + Missense_Mutation SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 10 43287948 43287948 G A SNP BMS1 ENST00000374518 human ensembl 69_37n +1 known missense c.787 p.D263N 1.000 pfam_AARP2CN,smart_AARP2CN pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_ProtSyn_GTP-bd,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 274 0 0.00 226 58 20.42 - - - CAPSL 0 genome.wustl.edu 37 5 35921198 35921198 + Nonsense_Mutation SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 5 35921198 35921198 G A SNP CAPSL ENST00000397366 human ensembl 69_37n -1 known nonsense c.25 p.R9* 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2 - no_errors CAPSL HGNC ENSG00000152611 135 0 0.00 125 16 11.27 - - - CASR 0 genome.wustl.edu 37 3 122003481 122003481 + Missense_Mutation SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 3 122003481 122003481 G A SNP CASR ENST00000498619 human ensembl 69_37n +1 known missense c.2710 p.V904I 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 46 0 0.00 53 18 25.35 - - - CHD8 0 genome.wustl.edu 37 14 21871620 21871620 + Missense_Mutation SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 14 21871620 21871620 G A SNP CHD8 ENST00000555935 human ensembl 69_37n -1 novel missense c.1186 p.P396S 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_start_codon:pseudogene:bad_bp_length_for_coding_region CHD8 HGNC ENSG00000100888 33 0 0.00 43 14 24.56 - - - DOCK8 0 genome.wustl.edu 37 9 289557 289557 + Missense_Mutation SNP G G C TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 9 289557 289557 G C SNP DOCK8 ENST00000453981 human ensembl 69_37n +1 known missense c.380 p.R127P 1.000 pfam_DUF3398 pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 656 0 0.00 392 136 25.76 - - - DSCAML1 0 genome.wustl.edu 37 11 117375739 117375739 + Silent SNP C C T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 11 117375739 117375739 C T SNP DSCAML1 ENST00000321322 human ensembl 69_37n -1 known silent c.2262 p.V754 0.843 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 169 0 0.00 111 66 37.29 - - - ENG 0 genome.wustl.edu 37 9 130605384 130605384 + Nonsense_Mutation SNP C C A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 9 130605384 130605384 C A SNP ENG ENST00000373203 human ensembl 69_37n -1 known nonsense c.208 p.E70* 0.688 NULL pfam_Zona_pellucida_Endoglin/CD105 - no_errors ENG HGNC ENSG00000106991 86 0 0.00 105 19 15.32 - - - FAM104A 0 genome.wustl.edu 37 17 71205900 71205901 + Frame_Shift_Ins INS - - G TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 17 71205900 71205901 - G INS FAM104A ENST00000405159 human ensembl 69_37n -1 known frame_shift_ins c.392_391 p.G131fs 1.000:0.972 NULL NULL - no_errors FAM104A HGNC ENSG00000133193 28 0 0.00 40 42 51.22 - - - FGFR3 0 genome.wustl.edu 37 4 1808375 1808375 + Missense_Mutation SNP C C T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 4 1808375 1808375 C T SNP FGFR3 ENST00000481110 human ensembl 69_37n +1 putative missense c.2065 p.P689S 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FGFR3 HGNC ENSG00000068078 14 0 0.00 8 5 38.46 - - - FRYL 0 genome.wustl.edu 37 4 48542836 48542836 + Missense_Mutation SNP T T C TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 4 48542836 48542836 T C SNP FRYL ENST00000514617 human ensembl 69_37n -1 novel missense c.2437 p.I813V 0.157 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FRYL HGNC ENSG00000075539 109 0 0.00 113 41 26.62 - - - GRID1 0 genome.wustl.edu 37 10 87407077 87407077 + Missense_Mutation SNP C C T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 10 87407077 87407077 C T SNP GRID1 ENST00000327946 human ensembl 69_37n -1 known missense c.2075 p.R692Q 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 154 0 0.00 128 20 13.51 - - - GRM8 0 genome.wustl.edu 37 7 126173066 126173066 + Silent SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 7 126173066 126173066 G A SNP GRM8 ENST00000339582 human ensembl 69_37n -1 known silent c.2370 p.T790 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 139 0 0.00 110 14 11.29 - - - HNRNPA2B1 0 genome.wustl.edu 37 7 26233303 26233303 + Nonsense_Mutation SNP C C A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 7 26233303 26233303 C A SNP HNRNPA2B1 ENST00000354667 human ensembl 69_37n -1 known nonsense c.769 p.G257* 1.000 NULL pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 123 0 0.00 109 27 19.85 - - - IL28A 0 genome.wustl.edu 37 19 39759482 39759482 + Missense_Mutation SNP G G T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 19 39759482 39759482 G T SNP IL28A ENST00000331982 human ensembl 69_37n +1 known missense c.176 p.R59M 0.560 NULL NULL - no_errors IL28A HGNC ENSG00000183709 134 1 0.74 132 31 19.02 - - - KCNG1 0 genome.wustl.edu 37 20 49621081 49621081 + Missense_Mutation SNP C C T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 20 49621081 49621081 C T SNP KCNG1 ENST00000371571 human ensembl 69_37n -1 known missense c.1037 p.R346Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 39 0 0.00 51 16 23.88 - - - KIAA1383 0 genome.wustl.edu 37 1 232940798 232940798 + Nonsense_Mutation SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 1 232940798 232940798 G A SNP KIAA1383 ENST00000418460 human ensembl 69_37n +1 known nonsense c.29 p.W10* 0.000 NULL NULL - no_errors KIAA1383 HGNC ENSG00000212916 65 0 0.00 103 18 14.88 - - - KIT 0 genome.wustl.edu 37 4 55565832 55565832 + Missense_Mutation SNP C C T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 4 55565832 55565832 C T SNP KIT ENST00000288135 human ensembl 69_37n +1 known missense c.656 p.A219V 0.003 pfam_Ig_I-set,smart_Ig_sub,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors KIT HGNC ENSG00000157404 205 0 0.00 205 57 21.67 - - - KRT6C 0 genome.wustl.edu 37 12 52867484 52867484 + Missense_Mutation SNP C C T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 12 52867484 52867484 C T SNP KRT6C ENST00000252250 human ensembl 69_37n -1 known missense c.38 p.S13N 0.004 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 48 0 0.00 32 13 28.89 - - - MPP3 0 genome.wustl.edu 37 17 41888564 41888564 + Missense_Mutation SNP C C G TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 17 41888564 41888564 C G SNP MPP3 ENST00000398389 human ensembl 69_37n -1 known missense c.1265 p.R422T 0.997 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP3 HGNC ENSG00000161647 104 0 0.00 137 36 20.81 - - - MTNR1B 0 genome.wustl.edu 37 11 92714860 92714860 + Silent SNP C C A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 11 92714860 92714860 C A SNP MTNR1B ENST00000257068 human ensembl 69_37n +1 known silent c.471 p.T157 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Melatonin_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Melatonin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 222 1 0.45 267 49 15.41 - - - NLRC3 0 genome.wustl.edu 37 16 3611702 3611702 + Splice_Site SNP C C A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 16 3611702 3611702 C A SNP NLRC3 ENST00000448023 human ensembl 69_37n -1 known splice_site c.2156+1 e4+1 1.000 - - - no_errors NLRC3 HGNC ENSG00000167984 21 0 0.00 12 6 33.33 - - - OAZ2 0 genome.wustl.edu 37 15 64995230 64995230 + Missense_Mutation SNP G G T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 15 64995230 64995230 G T SNP OAZ2 ENST00000326005 human ensembl 69_37n -1 known missense c.18 p.D6E 1.000 NULL pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ2 HGNC ENSG00000180304 184 0 0.00 235 41 14.86 - - - ODF2 0 genome.wustl.edu 37 9 131247096 131247097 + Frame_Shift_Ins INS - - C TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 9 131247096 131247097 - C INS ODF2 ENST00000372796 human ensembl 69_37n +1 known frame_shift_ins c.1221_1222 p.A407fs 0.929:1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 155 0 0.00 132 85 39.17 - - - OR4L1 0 genome.wustl.edu 37 14 20528300 20528300 + Silent SNP C C T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 14 20528300 20528300 C T SNP OR4L1 ENST00000315683 human ensembl 69_37n +1 known silent c.97 p.L33 0.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4L1 HGNC ENSG00000176246 101 0 0.00 117 47 28.66 - - - OR56A4 0 genome.wustl.edu 37 11 6023911 6023911 + Missense_Mutation SNP C C A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 11 6023911 6023911 C A SNP OR56A4 ENST00000330728 human ensembl 69_37n -1 known missense c.468 p.M156I 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 246 0 0.00 219 75 25.34 - - - PCDHGB1 0 genome.wustl.edu 37 5 140730761 140730761 + Missense_Mutation SNP G G T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 5 140730761 140730761 G T SNP PCDHGB1 ENST00000523390 human ensembl 69_37n +1 known missense c.934 p.V312L 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 95 0 0.00 100 14 12.28 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 70 0 0.00 96 194 66.67 - - - PLA2G4A 0 genome.wustl.edu 37 1 186925327 186925327 + Missense_Mutation SNP C C G TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 1 186925327 186925327 C G SNP PLA2G4A ENST00000367466 human ensembl 69_37n +1 known missense c.1430 p.A477G 0.038 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 197 0 0.00 232 43 15.64 - - - POM121 0 genome.wustl.edu 37 7 72413723 72413724 + In_Frame_Ins INS - - CTC TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 7 72413723 72413724 - CTC INS POM121 ENST00000434423 human ensembl 69_37n +1 known in_frame_ins c.3191_3192 p.1065in_frame_insS 0.980:0.870 NULL NULL - no_errors POM121 HGNC ENSG00000196313 24 0 0.00 18 4 18.18 - - - POM121L12 0 genome.wustl.edu 37 7 53103840 53103840 + Missense_Mutation SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 7 53103840 53103840 G A SNP POM121L12 ENST00000408890 human ensembl 69_37n +1 known missense c.476 p.R159H 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 44 0 0.00 33 11 25.00 - - - PSD 0 genome.wustl.edu 37 10 104175780 104175781 + Frame_Shift_Ins INS - - G TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 10 104175780 104175781 - G INS PSD ENST00000020673 human ensembl 69_37n -1 known frame_shift_ins c.751_750 p.S250fs 1.000:1.000 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 36 0 0.00 30 4 11.76 - - - RAB40A 0 genome.wustl.edu 37 X 102755366 102755366 + Nonsense_Mutation SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 X 102755366 102755366 G A SNP RAB40A ENST00000304236 human ensembl 69_37n -1 known nonsense c.319 p.R107* 0.996 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom - no_errors RAB40A HGNC ENSG00000172476 132 0 0.00 92 19 17.12 - - - RPTN 0 genome.wustl.edu 37 1 152128071 152128071 + Missense_Mutation SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 1 152128071 152128071 G A SNP RPTN ENST00000316073 human ensembl 69_37n -1 known missense c.1504 p.P502S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors RPTN HGNC ENSG00000215853 743 0 0.00 814 638 43.88 - - - RSAD2 0 genome.wustl.edu 37 2 7018164 7018164 + Missense_Mutation SNP A A C TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 2 7018164 7018164 A C SNP RSAD2 ENST00000382040 human ensembl 69_37n +1 known missense c.233 p.H78P 1.000 smart_Elp3/MiaB/NifB pfam_rSAM,smart_Elp3/MiaB/NifB - no_errors RSAD2 HGNC ENSG00000134321 195 0 0.00 206 84 28.87 - - - RXFP1 0 genome.wustl.edu 37 4 159559201 159559201 + Frame_Shift_Del DEL A A - TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 4 159559201 159559201 A - DEL RXFP1 ENST00000307765 human ensembl 69_37n +1 known frame_shift_del c.1013 p.Q338fs 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_7TM_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_supfam,prints_Relaxin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP1 HGNC ENSG00000171509 123 0 0.00 98 19 15.97 - - - SHC4 0 genome.wustl.edu 37 15 49148314 49148314 + Missense_Mutation SNP C C A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 15 49148314 49148314 C A SNP SHC4 ENST00000332408 human ensembl 69_37n -1 known missense c.1078 p.V360L 0.917 NULL pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,prints_PID_domain,prints_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2 - no_errors SHC4 HGNC ENSG00000185634 112 0 0.00 116 45 27.95 - - - SPTB 0 genome.wustl.edu 37 14 65253821 65253821 + Silent SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 14 65253821 65253821 G A SNP SPTB ENST00000389722 human ensembl 69_37n -1 known silent c.2862 p.L954 0.989 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 24 0 0.00 17 13 43.33 - - - SREBF1 0 genome.wustl.edu 37 17 17719341 17719341 + Missense_Mutation SNP C C T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 17 17719341 17719341 C T SNP SREBF1 ENST00000355815 human ensembl 69_37n -1 known missense c.2306 p.R769H 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SREBF1 HGNC ENSG00000072310 11 0 0.00 2 4 66.67 - - - TAB2 0 genome.wustl.edu 37 6 149699358 149699359 + Frame_Shift_Ins INS - - T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 6 149699358 149699359 - T INS TAB2 ENST00000286332 human ensembl 69_37n +1 known frame_shift_ins c.307_308 p.T104fs 1.000:1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 164 0 0.00 127 37 22.56 - - - TET3 0 genome.wustl.edu 37 2 74329151 74329152 + Frame_Shift_Ins INS - - G TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 2 74329151 74329152 - G INS TET3 ENST00000409262 human ensembl 69_37n +1 known frame_shift_ins c.4831_4832 p.T1614fs 1.000:1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 52 0 0.00 32 4 11.11 - - - THEG 0 genome.wustl.edu 37 19 362223 362223 + Missense_Mutation SNP C C G TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 19 362223 362223 C G SNP THEG ENST00000342640 human ensembl 69_37n -1 known missense c.1117 p.D373H 0.144 NULL smart_THEG - no_errors THEG HGNC ENSG00000105549 170 0 0.00 259 31 10.69 - - - TOX3 0 genome.wustl.edu 37 16 52473645 52473645 + Missense_Mutation SNP G G A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 16 52473645 52473645 G A SNP TOX3 ENST00000219746 human ensembl 69_37n -1 known missense c.1223 p.P408L 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX3 HGNC ENSG00000103460 343 0 0.00 264 83 23.92 - - - TPO 0 genome.wustl.edu 37 2 1546242 1546242 + Missense_Mutation SNP T T A TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 2 1546242 1546242 T A SNP TPO ENST00000329066 human ensembl 69_37n +1 known missense c.2798 p.L933H 0.000 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 83 0 0.00 90 33 26.83 - - - VCX 0 genome.wustl.edu 37 X 7811288 7811288 + Missense_Mutation SNP C C G TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 X 7811288 7811288 C G SNP VCX ENST00000381059 human ensembl 69_37n +1 known missense c.44 p.T15R 0.000 NULL NULL - no_errors VCX HGNC ENSG00000182583 39 0 0.00 47 7 12.96 - - - WSCD2 0 genome.wustl.edu 37 12 108604055 108604055 + Nonsense_Mutation SNP C C T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 12 108604055 108604055 C T SNP WSCD2 ENST00000261400 human ensembl 69_37n +1 known nonsense c.655 p.Q219* 1.000 smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 68 0 0.00 43 7 14.00 - - - XPO4 0 genome.wustl.edu 37 13 21371027 21371027 + Frame_Shift_Del DEL A A - TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 13 21371027 21371027 A - DEL XPO4 ENST00000255305 human ensembl 69_37n -1 known frame_shift_del c.2492 p.L831fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 79 0 0.00 66 8 10.81 - - - ZNRF4 0 genome.wustl.edu 37 19 5456459 5456460 + Frame_Shift_Ins INS - - T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 49f77aa5-446b-49f6-bd1b-02d3ff7b9dfc a50c80c4-329f-456f-b86c-c97d2443ab75 19 5456459 5456460 - T INS ZNRF4 ENST00000222033 human ensembl 69_37n +1 known frame_shift_ins c.957_958 p.D319fs 0.705:0.790 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 110 0 0.00 155 122 44.04 - - -