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 ACAN 0 genome.wustl.edu 37 15 89401208 89401208 + Missense_Mutation SNP C C A TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 15 89401208 89401208 C A SNP ACAN ENST00000439576 human ensembl 69_37n +1 known missense c.5392 p.Q1798K 0.960 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 45 0 0.00 41 6 12.77 - - - AIM1L 0 genome.wustl.edu 37 1 26664147 26664147 + Missense_Mutation SNP G G T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 1 26664147 26664147 G T SNP AIM1L ENST00000527815 human ensembl 69_37n -1 known missense c.904 p.P302T 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 44 0 0.00 16 12 42.86 - - - BTN3A3 0 genome.wustl.edu 37 6 26452000 26452000 + Silent SNP A A G TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 6 26452000 26452000 A G SNP BTN3A3 ENST00000244519 human ensembl 69_37n +1 known silent c.1116 p.P372 0.056 superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 188 0 0.00 99 31 23.85 - - - C9orf156 0 genome.wustl.edu 37 9 100675677 100675677 + Missense_Mutation SNP G G C TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 9 100675677 100675677 G C SNP C9orf156 ENST00000455506 human ensembl 69_37n -1 known missense c.409 p.P137A 0.000 pfam_UPF0066,superfamily_UPF0066_YaeB pfam_UPF0066,superfamily_UPF0066_YaeB - no_start_codon C9orf156 HGNC ENSG00000136932 91 0 0.00 70 43 38.05 - - - CIT 0 genome.wustl.edu 37 12 120156521 120156521 + Missense_Mutation SNP C C T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 12 120156521 120156521 C T SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.3860 p.R1287Q 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 122 0 0.00 88 17 15.89 - - - CNTLN 0 genome.wustl.edu 37 9 17332708 17332708 + Missense_Mutation SNP G G C TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 9 17332708 17332708 G C SNP CNTLN ENST00000380647 human ensembl 69_37n +1 known missense c.1624 p.E542Q 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 136 0 0.00 123 15 10.87 - - - COL4A1 0 genome.wustl.edu 37 13 110839539 110839539 + Silent SNP C C T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 13 110839539 110839539 C T SNP COL4A1 ENST00000375820 human ensembl 69_37n -1 known silent c.1674 p.A558 0.939 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 64 0 0.00 47 12 20.34 - - - DARC 0 genome.wustl.edu 37 1 159175674 159175674 + Missense_Mutation SNP T T A TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 1 159175674 159175674 T A SNP DARC ENST00000368121 human ensembl 69_37n +1 known missense c.451 p.C151S 0.000 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 61 0 0.00 58 10 14.71 - - - DOCK4 0 genome.wustl.edu 37 7 111535769 111535769 + Missense_Mutation SNP C C T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 7 111535769 111535769 C T SNP DOCK4 ENST00000428084 human ensembl 69_37n -1 known missense c.1486 p.E496K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 1055 1 0.09 928 206 18.12 - - - DSP 0 genome.wustl.edu 37 6 7585725 7585725 + Missense_Mutation SNP A A T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 6 7585725 7585725 A T SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.8230 p.R2744W 0.989 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 179 0 0.00 103 26 20.00 - - - GATA3 0 genome.wustl.edu 37 10 8115874 8115875 + Frame_Shift_Ins INS - - G TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 10 8115874 8115875 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1223_1224 p.P409fs 0.903:0.359 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 122 0 0.00 63 13 17.11 - - - GLYAT 0 genome.wustl.edu 37 11 58477428 58477428 + Missense_Mutation SNP C C A TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 11 58477428 58477428 C A SNP GLYAT ENST00000344743 human ensembl 69_37n -1 known missense c.702 p.L234F 0.538 pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 111 1 0.89 85 26 23.42 - - - IARS2 0 genome.wustl.edu 37 1 220307827 220307827 + Missense_Mutation SNP G G T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 1 220307827 220307827 G T SNP IARS2 ENST00000302637 human ensembl 69_37n +1 known missense c.1921 p.A641S 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Ile-tRNA-synt pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS2 HGNC ENSG00000067704 74 0 0.00 97 45 31.69 - - - JPH1 0 genome.wustl.edu 37 8 75227343 75227343 + Missense_Mutation SNP G G A TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 8 75227343 75227343 G A SNP JPH1 ENST00000342232 human ensembl 69_37n -1 known missense c.892 p.R298C 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 100 0 0.00 40 15 27.27 - - - KCNJ2 0 genome.wustl.edu 37 17 68172397 68172397 + Missense_Mutation SNP T T C TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 17 68172397 68172397 T C SNP KCNJ2 ENST00000243457 human ensembl 69_37n +1 known missense c.1217 p.I406T 0.656 prints_K_chnl_inward-rec_Kir2.1 pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 276 0 0.00 247 49 16.55 - - - KLHL36 0 genome.wustl.edu 37 16 84695234 84695235 + Frame_Shift_Ins INS - - G TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 16 84695234 84695235 - G INS KLHL36 ENST00000564996 human ensembl 69_37n +1 known frame_shift_ins c.1346_1347 p.H452fs 1.000:0.299 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 20 0 0.00 4 2 33.33 - - - KRT78 0 genome.wustl.edu 37 12 53242469 53242470 + Frame_Shift_Ins INS - - C TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 12 53242469 53242470 - C INS KRT78 ENST00000304620 human ensembl 69_37n -1 known frame_shift_ins c.246_245 p.I83fs 1.000:1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT78 HGNC ENSG00000170423 42 0 0.00 25 3 10.71 - - - MAD2L1 0 genome.wustl.edu 37 4 120981377 120981377 + Missense_Mutation SNP G G T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 4 120981377 120981377 G T SNP MAD2L1 ENST00000296509 human ensembl 69_37n -1 known missense c.514 p.P172T 1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L1 HGNC ENSG00000164109 108 0 0.00 56 30 34.88 - - - MAN1A1 0 genome.wustl.edu 37 6 119569483 119569483 + Silent SNP A A G TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 6 119569483 119569483 A G SNP MAN1A1 ENST00000368468 human ensembl 69_37n -1 known silent c.934 p.L312 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 181 0 0.00 111 57 33.73 - - - MYH11 0 genome.wustl.edu 37 16 15797924 15797924 + Missense_Mutation SNP A A G TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 16 15797924 15797924 A G SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known missense c.5864 p.I1955T 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,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 MYH11 HGNC ENSG00000133392 137 0 0.00 134 47 25.68 - - - NFATC2 0 genome.wustl.edu 37 20 50140351 50140351 + Silent SNP G G A TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 20 50140351 50140351 G A SNP NFATC2 ENST00000396009 human ensembl 69_37n -1 known silent c.429 p.A143 0.200 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD - no_errors NFATC2 HGNC ENSG00000101096 17 0 0.00 14 6 30.00 - - - NUB1 0 genome.wustl.edu 37 7 151064964 151064964 + Missense_Mutation SNP G G C TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 7 151064964 151064964 G C SNP NUB1 ENST00000568733 human ensembl 69_37n +1 known missense c.1077 p.E359D 1.000 NULL pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 26 0 0.00 15 5 25.00 - - - OR4D2 0 genome.wustl.edu 37 17 56247170 56247170 + Missense_Mutation SNP G G T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 17 56247170 56247170 G T SNP OR4D2 ENST00000545221 human ensembl 69_37n +1 known missense c.154 p.D52Y 0.604 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D2 HGNC ENSG00000255713 713 0 0.00 662 217 24.63 - - - PGAM4 0 genome.wustl.edu 37 X 77224588 77224588 + Missense_Mutation SNP A A C TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 X 77224588 77224588 A C SNP PGAM4 ENST00000458128 human ensembl 69_37n -1 known missense c.548 p.I183S 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM4 HGNC ENSG00000226784 277 0 0.00 161 31 16.15 - - - POTEH 0 genome.wustl.edu 37 22 16277750 16277752 + In_Frame_Del DEL ATT ATT - TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 ATT ATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 22 16277750 16277752 ATT - DEL POTEH ENST00000343518 human ensembl 69_37n -1 known in_frame_del c.1164_1162 p.N388in_frame_del 0.020:0.012:0.009 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 41 0 0.00 55 10 15.38 - - - PPFIA2 0 genome.wustl.edu 37 12 81851615 81851615 + Missense_Mutation SNP C C A TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 12 81851615 81851615 C A SNP PPFIA2 ENST00000549396 human ensembl 69_37n -1 known missense c.334 p.A112S 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 71 0 0.00 65 10 13.33 - - - RPRD1B 0 genome.wustl.edu 37 20 36662443 36662443 + Missense_Mutation SNP C C T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 20 36662443 36662443 C T SNP RPRD1B ENST00000373433 human ensembl 69_37n +1 known missense c.94 p.H32Y 1.000 superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD1B HGNC ENSG00000101413 84 0 0.00 66 17 20.48 - - - RUSC2 0 genome.wustl.edu 37 9 35546754 35546754 + Missense_Mutation SNP G G T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 9 35546754 35546754 G T SNP RUSC2 ENST00000361226 human ensembl 69_37n +1 known missense c.236 p.R79L 0.033 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 75 0 0.00 28 27 49.09 - - - RYR1 0 genome.wustl.edu 37 19 38976764 38976764 + Silent SNP G G A TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 19 38976764 38976764 G A SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known silent c.5469 p.G1823 0.979 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 115 0 0.00 79 21 21.00 - - - RYR3 0 genome.wustl.edu 37 15 34115275 34115275 + Splice_Site SNP T T G TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 15 34115275 34115275 T G SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known splice_site c.11072+2 e81+2 1.000 - - - no_errors RYR3 HGNC ENSG00000198838 59 0 0.00 41 33 44.59 - - - SERPINB1 0 genome.wustl.edu 37 6 2833961 2833961 + Missense_Mutation SNP C C T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 6 2833961 2833961 C T SNP SERPINB1 ENST00000380739 human ensembl 69_37n -1 known missense c.1021 p.A341T 0.016 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB1 HGNC ENSG00000021355 101 0 0.00 101 19 15.83 - - - SGCD 0 genome.wustl.edu 37 5 156186373 156186373 + Missense_Mutation SNP G G T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 5 156186373 156186373 G T SNP SGCD ENST00000337851 human ensembl 69_37n +1 known missense c.845 p.C282F 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCD HGNC ENSG00000170624 216 0 0.00 132 60 31.09 - - - SH3GL1 0 genome.wustl.edu 37 19 4363740 4363741 + Frame_Shift_Ins INS - - G TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 19 4363740 4363741 - G INS SH3GL1 ENST00000269886 human ensembl 69_37n -1 known frame_shift_ins c.601_600 p.M200fs 1.000:1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,prints_SH3_domain,prints_p67phox,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GL1 HGNC ENSG00000141985 38 0 0.00 42 61 59.22 - - - SH3GL1 0 genome.wustl.edu 37 19 4364180 4364181 + Frame_Shift_Del DEL GG GG - TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 19 4364180 4364181 GG - DEL SH3GL1 ENST00000269886 human ensembl 69_37n -1 known frame_shift_del c.370_369 p.L124fs 0.999:1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,prints_SH3_domain,prints_p67phox,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GL1 HGNC ENSG00000141985 11 0 0.00 5 19 79.17 - - - SH3GL1 0 genome.wustl.edu 37 19 4364183 4364183 + Frame_Shift_Del DEL G G - TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 19 4364183 4364183 G - DEL SH3GL1 ENST00000269886 human ensembl 69_37n -1 known frame_shift_del c.367 p.R123fs 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,prints_SH3_domain,prints_p67phox,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GL1 HGNC ENSG00000141985 11 0 0.00 4 19 82.61 - - - SIPA1L1 0 genome.wustl.edu 37 14 72171448 72171448 + Silent SNP T T C TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 14 72171448 72171448 T C SNP SIPA1L1 ENST00000555818 human ensembl 69_37n +1 known silent c.3657 p.Y1219 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 65 0 0.00 25 36 59.02 - - - SMG1 0 genome.wustl.edu 37 16 18847853 18847853 + Missense_Mutation SNP A A G TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 16 18847853 18847853 A G SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known missense c.7606 p.Y2536H 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 298 0 0.00 268 66 19.76 - - - SMYD1 0 genome.wustl.edu 37 2 88396144 88396146 + In_Frame_Del DEL AGA AGA - TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 2 88396144 88396146 AGA - DEL SMYD1 ENST00000419482 human ensembl 69_37n +1 known in_frame_del c.729_731 p.E244in_frame_del 0.820:0.978:0.976 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 255 0 0.00 190 35 15.49 - - - SND1 0 genome.wustl.edu 37 7 127326706 127326706 + Missense_Mutation SNP C C T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 7 127326706 127326706 C T SNP SND1 ENST00000354725 human ensembl 69_37n +1 known missense c.118 p.R40C 1.000 superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC ENSG00000197157 151 0 0.00 128 28 17.83 - - - SP100 0 genome.wustl.edu 37 2 231379957 231379957 + Missense_Mutation SNP G G C TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 2 231379957 231379957 G C SNP SP100 ENST00000264052 human ensembl 69_37n +1 known missense c.2242 p.E748Q 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_Sp100,pfam_SAND_dom,pfam_HMG_superfamily,superfamily_SAND_dom-like,superfamily_HMG_superfamily,smart_SAND_dom,smart_HMG_superfamily,pfscan_SAND_dom,pfscan_HMG_superfamily - no_errors SP100 HGNC ENSG00000067066 225 0 0.00 271 51 15.84 - - - STAU1 0 genome.wustl.edu 37 20 47734496 47734496 + Missense_Mutation SNP C C T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 20 47734496 47734496 C T SNP STAU1 ENST00000371856 human ensembl 69_37n -1 known missense c.1327 p.A443T 1.000 NULL pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU1 HGNC ENSG00000124214 171 0 0.00 113 58 33.92 - - - SYNE2 0 genome.wustl.edu 37 14 64516385 64516386 + Frame_Shift_Del DEL AG AG - TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 14 64516385 64516386 AG - DEL SYNE2 ENST00000358025 human ensembl 69_37n +1 known frame_shift_del c.7434_7435 p.E2479fs 0.000:0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 133 0 0.00 239 57 19.19 - - - TBX3 0 genome.wustl.edu 37 12 115118832 115118832 + Nonsense_Mutation SNP C C T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 12 115118832 115118832 C T SNP TBX3 ENST00000257566 human ensembl 69_37n -1 known nonsense c.509 p.W170* 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 217 0 0.00 86 29 25.00 - - - TCF7 0 genome.wustl.edu 37 5 133477961 133477961 + Missense_Mutation SNP G G T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 5 133477961 133477961 G T SNP TCF7 ENST00000321584 human ensembl 69_37n +1 known missense c.721 p.G241W 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7 HGNC ENSG00000081059 110 0 0.00 63 38 37.62 - - - TEX15 0 genome.wustl.edu 37 8 30705950 30705950 + Missense_Mutation SNP C C G TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 8 30705950 30705950 C G SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.584 p.S195T 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 93 0 0.00 102 17 14.29 - - - TGFBR3 0 genome.wustl.edu 37 1 92177900 92177900 + Missense_Mutation SNP C C T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 1 92177900 92177900 C T SNP TGFBR3 ENST00000212355 human ensembl 69_37n -1 known missense c.2066 p.S689N 1.000 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors TGFBR3 HGNC ENSG00000069702 113 0 0.00 66 16 19.51 - - - TRIM68 0 genome.wustl.edu 37 11 4621685 4621685 + Missense_Mutation SNP C C T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 11 4621685 4621685 C T SNP TRIM68 ENST00000300747 human ensembl 69_37n -1 known missense c.1279 p.V427M 0.999 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM68 HGNC ENSG00000167333 103 0 0.00 40 31 43.66 - - - XIST 0 genome.wustl.edu 37 X 73043072 73043072 + RNA SNP G G A TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 X 73043072 73043072 G A SNP XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 58 0 0.00 87 51 36.96 - - - ZFHX3 0 genome.wustl.edu 37 16 72830233 72830233 + Silent SNP C C T TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 16 72830233 72830233 C T SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known silent c.6348 p.P2116 0.830 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 56 0 0.00 19 6 24.00 - - - ZNF644 0 genome.wustl.edu 37 1 91403092 91403094 + In_Frame_Del DEL TCC TCC - TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 35ebf91d-6fec-4d28-9b21-493d0e14f8db 1a2fb095-5cbc-40e1-92fd-60946a164d04 1 91403092 91403094 TCC - DEL ZNF644 ENST00000337393 human ensembl 69_37n -1 known in_frame_del c.3638_3636 p.E1212in_frame_del 0.997:1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 281 0 0.00 226 54 18.95 - - -