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 COL11A1 0 genome.wustl.edu 37 1 103453255 103453255 + Silent SNP A A C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 103453255 103453255 A C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.2472 p.P824 0.378 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 100 0 0 59 5 7.8125 COL11A1 0 genome.wustl.edu 37 1 103478004 103478004 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 103478004 103478004 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.1630 p.G544C 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 25 0 0 44 3 6.38298 ACAP3 0 genome.wustl.edu 37 1 1235945 1235945 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 1235945 1235945 C A SNP ACAP3 ENST00000353662 human ensembl 74_37 -1 known missense c.340 p.A114S 0.974 NULL pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP3 HGNC ENSG00000131584 58 0 0 30 13 30.2326 PRAMEF1 0 genome.wustl.edu 37 1 12853478 12853478 + Silent SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 12853478 12853478 G T SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known silent c.102 p.V34 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 185 0 0 110 79 41.7989 PRAMEF2 0 genome.wustl.edu 37 1 12920109 12920109 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 12920109 12920109 C T SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known silent c.849 p.H283 0.010 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 120 0 0 109 10 8.40336 PRAMEF2 0 genome.wustl.edu 37 1 12920128 12920128 + Splice_Site SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 12920128 12920128 T C SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known splice_site c.866+2 e2+2 0.083 - - - no_errors PRAMEF2 HGNC ENSG00000120952 109 0 0 105 8 7.07965 LCE3A 0 genome.wustl.edu 37 1 152595412 152595412 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 152595412 152595412 C T SNP LCE3A ENST00000335674 human ensembl 74_37 -1 known silent c.168 p.R56 0.000 NULL NULL - no_errors LCE3A HGNC ENSG00000185962 105 0 0 53 47 47 IL6R 0 genome.wustl.edu 37 1 154437709 154437709 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 154437709 154437709 C T SNP IL6R ENST00000368485 human ensembl 74_37 +1 known silent c.1260 p.P420 0.363 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL6R HGNC ENSG00000160712 90 0 0 73 37 33.6364 CD5L 0 genome.wustl.edu 37 1 157803062 157803062 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 157803062 157803062 T A SNP CD5L ENST00000368174 human ensembl 74_37 -1 known missense c.959 p.Q320L 0.001 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 105 0 0 85 41 32.5397 IGSF9 0 genome.wustl.edu 37 1 159902462 159902462 + RNA SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 159902462 159902462 A G SNP IGSF9 ENST00000493195 human ensembl 74_37 -1 known rna NULL NULL 0.047 - - - no_errors IGSF9 HGNC ENSG00000085552 37 0 0 16 10 38.4615 LRRC52 0 genome.wustl.edu 37 1 165533033 165533033 + Nonsense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 165533033 165533033 C A SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known nonsense c.914 p.S305* 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 113 0 0 99 6 5.71429 ATP1B1 0 genome.wustl.edu 37 1 169096600 169096600 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 169096600 169096600 C T SNP ATP1B1 ENST00000367815 human ensembl 74_37 +1 known missense c.521 p.P174L 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B1 HGNC ENSG00000143153 82 0 0 50 38 43.1818 PTPRC 0 genome.wustl.edu 37 1 198687382 198687382 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 198687382 198687382 G T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1610 p.C537F 0.278 pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 39 0 0 36 5 12.1951 KIF14 0 genome.wustl.edu 37 1 200567489 200567489 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 200567489 200567489 C T SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.2425 p.D809N 1.000 superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 64 0 0 39 33 45.8333 ADORA1 0 genome.wustl.edu 37 1 203134855 203134855 + Missense_Mutation SNP A A C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 203134855 203134855 A C SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known missense c.808 p.T270P 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 148 0 0 73 44 37.6068 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 253 0 0 70 46 39.6552 MARK1 0 genome.wustl.edu 37 1 220835358 220835358 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 220835358 220835358 C T SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known silent c.2238 p.D746 0.997 superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 115 0 0 26 50 65.7895 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 284 0 0 61 22 26.506 OBSCN 0 genome.wustl.edu 37 1 228432152 228432152 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 228432152 228432152 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3361 p.G1121C 0.008 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 136 0 0 74 13 14.9425 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 171 0 0 49 31 38.75 LYST 0 genome.wustl.edu 37 1 235973152 235973152 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 235973152 235973152 C A SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.966 p.L322F 0.998 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 30 0 0 42 4 8.69565 RYR2 0 genome.wustl.edu 37 1 237947996 237947996 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 237947996 237947996 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.13002 p.A4334 0.005 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 99 0 0 54 5 8.47458 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 16 0 0 5 8 61.5385 ENSG00000230615 0 genome.wustl.edu 37 1 44569334 44569334 + RNA SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 44569334 44569334 C T SNP ENSG00000230615 ENST00000434244 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 145 0 0 41 37 47.4359 ELAVL4 0 genome.wustl.edu 37 1 50659454 50659454 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 50659454 50659454 G A SNP ELAVL4 ENST00000371821 human ensembl 74_37 +1 known silent c.387 p.P129 0.955 pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 108 0 0 60 37 38.1443 PODN 0 genome.wustl.edu 37 1 53544373 53544373 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 53544373 53544373 C T SNP PODN ENST00000312553 human ensembl 74_37 +1 known silent c.1335 p.R445 0.742 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 281 0 0 74 52 41.2698 LEPR 0 genome.wustl.edu 37 1 66085680 66085680 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 66085680 66085680 C A SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.2465 p.P822Q 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 25 0 0 40 6 13.0435 GBP1 0 genome.wustl.edu 37 1 89523769 89523769 + Silent SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 89523769 89523769 G T SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known silent c.780 p.P260 0.873 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 234 0 0 220 25 10.2041 SLC2A7 0 genome.wustl.edu 37 1 9063464 9063464 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 9063464 9063464 G A SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known silent c.1434 p.N478 0.983 pfam_Sub_transporter pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 94 0 0 78 5 6.0241 GFI1 0 genome.wustl.edu 37 1 92949026 92949026 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 92949026 92949026 C T SNP GFI1 ENST00000294702 human ensembl 74_37 -1 known missense c.19 p.V7I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1 HGNC ENSG00000162676 37 0 0 16 8 33.3333 AGRN 0 genome.wustl.edu 37 1 978821 978821 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 978821 978821 G A SNP AGRN ENST00000379370 human ensembl 74_37 +1 known silent c.1587 p.A529 0.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 27 0 0 14 9 39.1304 NFKB2 0 genome.wustl.edu 37 10 104160223 104160223 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 10 104160223 104160223 G T SNP NFKB2 ENST00000369966 human ensembl 74_37 +1 known missense c.1773 p.Q591H 0.437 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 37 0 0 24 6 20 SORCS1 0 genome.wustl.edu 37 10 108923844 108923844 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 10 108923844 108923844 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.441 p.P147 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 94 0 0 30 29 49.1525 USP6NL 0 genome.wustl.edu 37 10 11505340 11505340 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 10 11505340 11505340 G A SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known silent c.1656 p.N552 0.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 227 0 0 118 43 26.7081 PNLIPRP3 0 genome.wustl.edu 37 10 118196292 118196292 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 10 118196292 118196292 C T SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.119 p.T40I 0.003 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 85 0 0 66 36 35.2941 SEC23IP 0 genome.wustl.edu 37 10 121652327 121652327 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 10 121652327 121652327 C T SNP SEC23IP ENST00000369075 human ensembl 74_37 +1 known silent c.33 p.G11 0.893 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 29 0 0 24 4 14.2857 DMBT1 0 genome.wustl.edu 37 10 124390531 124390531 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 10 124390531 124390531 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.5693 p.R1898H 0.994 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 46 0 0 27 16 37.2093 FOXI2 0 genome.wustl.edu 37 10 129536928 129536928 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 10 129536928 129536928 C T SNP FOXI2 ENST00000388920 human ensembl 74_37 +1 known missense c.656 p.A219V 0.001 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI2 HGNC ENSG00000186766 13 0 0 6 6 50 MPP7 0 genome.wustl.edu 37 10 28347495 28347495 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 10 28347495 28347495 C T SNP MPP7 ENST00000337532 human ensembl 74_37 -1 known missense c.1336 p.G446S 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 135 0 0 109 59 35.119 RBP3 0 genome.wustl.edu 37 10 48389994 48389994 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 10 48389994 48389994 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.884 p.T295M 0.225 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 54 0 0 23 30 56.6038 DKK1 0 genome.wustl.edu 37 10 54074279 54074279 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 10 54074279 54074279 G T SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known missense c.85 p.V29L 0.002 NULL pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 110 0 0 108 8 6.89655 EXOSC1 0 genome.wustl.edu 37 10 99196963 99196963 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 10 99196963 99196963 C T SNP EXOSC1 ENST00000370902 human ensembl 74_37 -1 known missense c.466 p.A156T 1.000 NULL pfam_EXOSC1,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1 - no_errors EXOSC1 HGNC ENSG00000171311 232 1 0.429185 115 8 6.50407 CASP4 0 genome.wustl.edu 37 11 104825729 104825729 + Splice_Site SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 104825729 104825729 C T SNP CASP4 ENST00000444739 human ensembl 74_37 -1 known splice_site c.8-1 e2-1 0.756 - - - no_errors CASP4 HGNC ENSG00000196954 69 0 0 69 9 11.5385 DIXDC1 0 genome.wustl.edu 37 11 111835363 111835363 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 111835363 111835363 C T SNP DIXDC1 ENST00000440460 human ensembl 74_37 +1 known missense c.151 p.R51W 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 35 0 0 5 6 54.5455 ANKK1 0 genome.wustl.edu 37 11 113270344 113270344 + Silent SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 113270344 113270344 G C SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known silent c.1653 p.A551 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 25 0 0 6 5 45.4545 ANKK1 0 genome.wustl.edu 37 11 113270418 113270418 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 113270418 113270418 G T SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known missense c.1727 p.C576F 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 21 0 0 10 4 28.5714 MFRP 0 genome.wustl.edu 37 11 119216153 119216153 + Silent SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 119216153 119216153 A T SNP MFRP ENST00000449574 human ensembl 74_37 -1 known silent c.618 p.P206 0.075 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 89 0 0 27 12 30.7692 OR6M1 0 genome.wustl.edu 37 11 123676313 123676313 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 123676313 123676313 G T SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known missense c.745 p.H249N 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 68 0 0 68 10 12.8205 ST3GAL4 0 genome.wustl.edu 37 11 126277484 126277484 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 126277484 126277484 G A SNP ST3GAL4 ENST00000356132 human ensembl 74_37 +1 known missense c.314 p.R105Q 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL4 HGNC ENSG00000110080 329 0 0 94 39 29.3233 NTM 0 genome.wustl.edu 37 11 132177584 132177584 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 132177584 132177584 G A SNP NTM ENST00000539799 human ensembl 74_37 +1 known silent c.528 p.A176 0.528 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 82 0 0 21 20 48.7805 USH1C 0 genome.wustl.edu 37 11 17542436 17542436 + Silent SNP T T G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 17542436 17542436 T G SNP USH1C ENST00000005226 human ensembl 74_37 -1 known silent c.1191 p.V397 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 355 1 0.280899 188 45 19.3133 LUZP2 0 genome.wustl.edu 37 11 24518846 24518846 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 24518846 24518846 C T SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known silent c.57 p.S19 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 28 0 0 12 7 36.8421 IFITM5 0 genome.wustl.edu 37 11 299390 299390 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 299390 299390 C T SNP IFITM5 ENST00000382614 human ensembl 74_37 -1 known missense c.101 p.R34Q 0.021 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors IFITM5 HGNC ENSG00000206013 20 0 0 0 2 100 CHST1 0 genome.wustl.edu 37 11 45671632 45671632 + Missense_Mutation SNP T T G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 45671632 45671632 T G SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.842 p.N281T 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 123 0 0 87 8 8.42105 C11orf40 0 genome.wustl.edu 37 11 4598936 4598936 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 4598936 4598936 C A SNP C11orf40 ENST00000307616 human ensembl 74_37 -1 known missense c.115 p.V39F 0.001 NULL NULL - no_errors C11orf40 HGNC ENSG00000171987 52 0 0 63 4 5.97015 OR51S1 0 genome.wustl.edu 37 11 4870119 4870119 + Missense_Mutation SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 4870119 4870119 A T SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known missense c.320 p.L107Q 0.005 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 OR51S1 HGNC ENSG00000176922 125 1 0.793651 94 8 7.84314 UBQLNL 0 genome.wustl.edu 37 11 5537086 5537086 + Missense_Mutation SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 5537086 5537086 A G SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.586 p.S196P 0.946 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 158 0 0 83 32 27.8261 OR4C11 0 genome.wustl.edu 37 11 55371655 55371655 + Silent SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 55371655 55371655 G C SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known silent c.195 p.S65 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 65 0 0 15 35 70 OR5D14 0 genome.wustl.edu 37 11 55563243 55563243 + Missense_Mutation SNP T T G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 55563243 55563243 T G SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.212 p.V71G 0.037 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 67 0 0 56 29 34.1176 OR8K3 0 genome.wustl.edu 37 11 56086292 56086292 + Silent SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 56086292 56086292 C A SNP OR8K3 ENST00000312711 human ensembl 74_37 +1 known silent c.510 p.G170 0.319 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K3 HGNC ENSG00000181689 83 0 0 75 7 8.53659 OR8K3 0 genome.wustl.edu 37 11 56086642 56086642 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 56086642 56086642 T C SNP OR8K3 ENST00000312711 human ensembl 74_37 +1 known missense c.860 p.L287S 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K3 HGNC ENSG00000181689 38 0 0 29 25 46.2963 OR10Q1 0 genome.wustl.edu 37 11 57995417 57995417 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 57995417 57995417 T A SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.931 p.I311F 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 312 0 0 178 24 11.8812 TCN1 0 genome.wustl.edu 37 11 59622291 59622291 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 59622291 59622291 C T SNP TCN1 ENST00000257264 human ensembl 74_37 -1 known missense c.955 p.A319T 0.000 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC ENSG00000134827 89 0 0 72 5 6.49351 OR52L1 0 genome.wustl.edu 37 11 6007738 6007738 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 6007738 6007738 A G SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known silent c.423 p.Y141 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 50 0 0 42 4 8.69565 SCGB1D2 0 genome.wustl.edu 37 11 62010904 62010904 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 62010904 62010904 G A SNP SCGB1D2 ENST00000244926 human ensembl 74_37 +1 known missense c.199 p.D67N 0.000 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1D2 HGNC ENSG00000124935 154 0 0 63 31 32.9787 GANAB 0 genome.wustl.edu 37 11 62400952 62400952 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 11 62400952 62400952 C G SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.661 p.A221P 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 130 0 0 62 12 16.2162 TBX3 0 genome.wustl.edu 37 12 115112484 115112484 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 12 115112484 115112484 G A SNP TBX3 ENST00000257566 human ensembl 74_37 -1 known missense c.1256 p.A419V 0.000 NULL 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 23 0 0 14 3 17.6471 KCNJ8 0 genome.wustl.edu 37 12 21919302 21919302 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 12 21919302 21919302 G T SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known missense c.630 p.F210L 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 149 0 0 64 41 39.0476 LINC00477 0 genome.wustl.edu 37 12 24736551 24736551 + RNA SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 12 24736551 24736551 A T SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.445 - - - no_errors LINC00477 HGNC ENSG00000197503 97 0 0 61 32 34.4086 ITPR2 0 genome.wustl.edu 37 12 26868257 26868257 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 12 26868257 26868257 C A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.830 p.S277I 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 142 1 0.699301 86 10 10.4167 CAPRIN2 0 genome.wustl.edu 37 12 30867934 30867934 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 12 30867934 30867934 C G SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known missense c.2609 p.R870T 0.972 pfam_Caprin-1_C pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 128 0 0 80 32 28.5714 KMT2D 0 genome.wustl.edu 37 12 49424534 49424534 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 12 49424534 49424534 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.13689 p.P4563 0.905 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 133 0 0 36 4 10 GPD1 0 genome.wustl.edu 37 12 50498370 50498370 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 12 50498370 50498370 G A SNP GPD1 ENST00000301149 human ensembl 74_37 +1 known missense c.55 p.A19T 1.000 pfam_G3P_DH_NAD-dep_N,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1 HGNC ENSG00000167588 105 0 0 72 8 10 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 120 0 0 39 33 45.8333 TRHDE 0 genome.wustl.edu 37 12 72866849 72866849 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 12 72866849 72866849 G T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.1338 p.W446C 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 153 0 0 113 8 6.61157 CD163L1 0 genome.wustl.edu 37 12 7531675 7531675 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 12 7531675 7531675 G T SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2270 p.S757Y 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 77 0 0 51 42 45.1613 MAB21L1 0 genome.wustl.edu 37 13 36049843 36049843 + Missense_Mutation SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 13 36049843 36049843 A T SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known missense c.433 p.Y145N 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 54 0 0 35 24 40.678 FREM2 0 genome.wustl.edu 37 13 39264690 39264690 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 13 39264690 39264690 T C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.3209 p.F1070S 0.042 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 141 1 0.704225 119 14 10.5263 MIR5006 0 genome.wustl.edu 37 13 42142499 42142499 + RNA SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 13 42142499 42142499 C G SNP MIR5006 ENST00000583027 human ensembl 74_37 -1 known rna NULL NULL 0.443 - - - no_errors MIR5006 HGNC ENSG00000264190 34 0 0 15 13 46.4286 NKX2-1 0 genome.wustl.edu 37 14 36987124 36987124 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 14 36987124 36987124 C T SNP NKX2-1 ENST00000354822 human ensembl 74_37 -1 known missense c.565 p.A189T 1.000 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-1 HGNC ENSG00000136352 26 0 0 10 5 33.3333 NRXN3 0 genome.wustl.edu 37 14 80164096 80164096 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 14 80164096 80164096 C T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.3797 p.A1266V 1.000 pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 87 0 0 43 7 14 SERPINA10 0 genome.wustl.edu 37 14 94754794 94754794 + Missense_Mutation SNP T T G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 14 94754794 94754794 T G SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known missense c.821 p.K274T 0.003 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 75 0 0 44 20 31.25 CHEK2P2 0 genome.wustl.edu 37 15 20496658 20496658 + RNA SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 15 20496658 20496658 G T SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.921 - - - no_errors CHEK2P2 HGNC ENSG00000259156 78 0 0 54 4 6.89655 MKRN3 0 genome.wustl.edu 37 15 23811299 23811299 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 15 23811299 23811299 C T SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.370 p.R124W 0.001 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 96 0 0 46 24 34.2857 NPAP1 0 genome.wustl.edu 37 15 24921898 24921898 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 15 24921898 24921898 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.884 p.P295L 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 112 0 0 82 5 5.74713 RYR3 0 genome.wustl.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 15 33962623 33962623 T G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.5726 p.V1909G 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 40 0 0 36 16 30.7692 HAUS2 0 genome.wustl.edu 37 15 42855984 42855984 + Missense_Mutation SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 15 42855984 42855984 A G SNP HAUS2 ENST00000260372 human ensembl 74_37 +1 known missense c.427 p.I143V 1.000 NULL NULL - no_errors HAUS2 HGNC ENSG00000137814 103 0 0 118 13 9.92366 CDAN1 0 genome.wustl.edu 37 15 43018353 43018353 + Silent SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 15 43018353 43018353 C A SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known silent c.3210 p.L1070 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 76 0 0 53 7 11.6667 SERF2 0 genome.wustl.edu 37 15 44085229 44085229 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 15 44085229 44085229 G C SNP SERF2 ENST00000448830 human ensembl 74_37 +1 known missense c.64 p.V22L 1.000 pfam_Uncharacterised_SERF pfam_Uncharacterised_SERF - no_errors SERF2 HGNC ENSG00000140264 40 0 0 15 6 28.5714 TNFAIP8L3 0 genome.wustl.edu 37 15 51350609 51350609 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 15 51350609 51350609 C T SNP TNFAIP8L3 ENST00000327536 human ensembl 74_37 -1 known silent c.348 p.A116 0.998 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L3 HGNC ENSG00000183578 43 0 0 30 31 50.8197 DMXL2 0 genome.wustl.edu 37 15 51773769 51773769 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 15 51773769 51773769 C T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.5534 p.R1845Q 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 48 0 0 57 15 20.8333 UNC13C 0 genome.wustl.edu 37 15 54307481 54307481 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 15 54307481 54307481 T C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.2381 p.F794S 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 48 0 0 14 7 33.3333 CACNA1H 0 genome.wustl.edu 37 16 1270395 1270395 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 16 1270395 1270395 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.6463 p.R2155W 0.997 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 44 0 0 28 13 31.7073 EARS2 0 genome.wustl.edu 37 16 23546255 23546255 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 16 23546255 23546255 G A SNP EARS2 ENST00000449606 human ensembl 74_37 -1 known silent c.912 p.P304 0.001 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-ligase_bac/mito pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth,tigrfam_Glu-tRNA-ligase_bac/mito - no_errors EARS2 HGNC ENSG00000103356 48 0 0 27 13 32.5 CACNG3 0 genome.wustl.edu 37 16 24372925 24372925 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 16 24372925 24372925 G A SNP CACNG3 ENST00000005284 human ensembl 74_37 +1 known missense c.689 p.R230Q 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 89 0 0 116 37 24.183 SALL1 0 genome.wustl.edu 37 16 51174933 51174933 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 16 51174933 51174933 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.1200 p.S400 0.980 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 149 0 0 30 51 62.963 MSLNL 0 genome.wustl.edu 37 16 824881 824881 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 16 824881 824881 C T SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.1691 p.R564H 0.000 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 34 0 0 24 13 35.1351 CDH15 0 genome.wustl.edu 37 16 89254540 89254540 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 16 89254540 89254540 A G SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known silent c.825 p.G275 0.112 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 26 0 0 4 7 63.6364 SLFN11 0 genome.wustl.edu 37 17 33690124 33690124 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 17 33690124 33690124 C T SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.703 p.V235I 0.000 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 116 0 0 88 44 33.3333 PIGW 0 genome.wustl.edu 37 17 34894027 34894027 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 17 34894027 34894027 A G SNP PIGW ENST00000328396 human ensembl 74_37 +1 known silent c.1077 p.V359 0.001 pfam_GWT1,pirsf_GWT1 pfam_GWT1,pirsf_GWT1 - no_errors PIGW HGNC ENSG00000184886 40 0 0 55 4 6.77966 FZD2 0 genome.wustl.edu 37 17 42636253 42636253 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 17 42636253 42636253 C T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known silent c.1197 p.S399 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 157 0 0 61 37 37.7551 KPNB1 0 genome.wustl.edu 37 17 45736015 45736015 + Missense_Mutation SNP T T G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 17 45736015 45736015 T G SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.625 p.F209V 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 68 0 0 75 4 5.06329 SP6 0 genome.wustl.edu 37 17 45924989 45924989 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 17 45924989 45924989 C T SNP SP6 ENST00000342234 human ensembl 74_37 -1 known silent c.807 p.S269 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 85 0 0 43 7 14 MTMR4 0 genome.wustl.edu 37 17 56589814 56589814 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 17 56589814 56589814 G A SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known silent c.147 p.A49 0.067 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 89 0 0 43 21 32.8125 TEX14 0 genome.wustl.edu 37 17 56700326 56700326 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 17 56700326 56700326 C T SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.299 p.G100D 0.986 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 54 0 0 35 7 16.6667 XAF1 0 genome.wustl.edu 37 17 6674284 6674284 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 17 6674284 6674284 C T SNP XAF1 ENST00000361842 human ensembl 74_37 +1 known missense c.830 p.P277L 0.986 NULL superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors XAF1 HGNC ENSG00000132530 61 0 0 43 7 14 TP53 0 genome.wustl.edu 37 17 7577082 7577082 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 17 7577082 7577082 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.856 p.E286K 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 67 0 0 14 15 51.7241 POTEC 0 genome.wustl.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 18 14513764 14513764 C T SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.1430 p.R477Q 0.121 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 49 0 0 35 4 10.2564 EPG5 0 genome.wustl.edu 37 18 43508856 43508856 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 18 43508856 43508856 C G SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.2532 p.E844D 0.898 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 81 0 0 40 4 9.09091 ZNF443 0 genome.wustl.edu 37 19 12542652 12542652 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 12542652 12542652 C T SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known missense c.334 p.V112I 0.000 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 ZNF443 HGNC ENSG00000180855 72 0 0 55 13 19.1176 ZNF443 0 genome.wustl.edu 37 19 12542658 12542658 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 12542658 12542658 C T SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known missense c.328 p.E110K 0.003 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 ZNF443 HGNC ENSG00000180855 72 0 0 54 13 19.403 NDUFB7 0 genome.wustl.edu 37 19 14677059 14677059 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 14677059 14677059 C T SNP NDUFB7 ENST00000215565 human ensembl 74_37 -1 known silent c.300 p.K100 1.000 pfam_NADH_UbQ_OxRdtase_B18_su pfam_NADH_UbQ_OxRdtase_B18_su - no_errors NDUFB7 HGNC ENSG00000099795 77 0 0 46 6 11.5385 REXO1 0 genome.wustl.edu 37 19 1820356 1820356 + Silent SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 1820356 1820356 G T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known silent c.2433 p.G811 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 191 0 0 61 30 32.967 ZNF675 0 genome.wustl.edu 37 19 23836362 23836362 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 23836362 23836362 C T SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known missense c.1373 p.G458D 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF675 HGNC ENSG00000197372 62 0 0 25 18 41.8605 ZNF57 0 genome.wustl.edu 37 19 2918038 2918038 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 2918038 2918038 G C SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known missense c.1419 p.E473D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF57 HGNC ENSG00000171970 83 0 0 58 9 13.4328 WTIP 0 genome.wustl.edu 37 19 34991055 34991055 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 34991055 34991055 G A SNP WTIP ENST00000270288 human ensembl 74_37 +1 known missense c.1846 p.G616R 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors WTIP HGNC ENSG00000142279 49 0 0 18 3 14.2857 ZNF599 0 genome.wustl.edu 37 19 35250996 35250996 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 35250996 35250996 C T SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known missense c.710 p.R237H 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF599 HGNC ENSG00000153896 166 0 0 89 51 36.4286 FAM187B 0 genome.wustl.edu 37 19 35719577 35719577 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 35719577 35719577 G T SNP FAM187B ENST00000324675 human ensembl 74_37 -1 known missense c.7 p.P3T 0.001 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 44 0 0 34 3 8.10811 ARHGAP33 0 genome.wustl.edu 37 19 36276129 36276129 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 36276129 36276129 G C SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.1760 p.G587A 0.055 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 65 0 0 29 6 17.1429 ZNF570 0 genome.wustl.edu 37 19 37975729 37975729 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 37975729 37975729 C A SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.1205 p.A402D 0.242 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 91 0 0 37 30 44.7761 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 156 1 0.636943 69 22 24.1758 ARHGAP35 0 genome.wustl.edu 37 19 47422058 47422058 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 47422058 47422058 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known silent c.126 p.F42 0.399 superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 129 0 0 103 9 8.03571 SEC1P 0 genome.wustl.edu 37 19 49183957 49183957 + RNA SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 49183957 49183957 C T SNP SEC1P ENST00000430145 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEC1P HGNC ENSG00000232871 27 0 0 6 5 45.4545 NLRP8 0 genome.wustl.edu 37 19 56466705 56466705 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 56466705 56466705 C T SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known silent c.1281 p.F427 0.097 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 123 0 0 116 38 24.6753 PEG3 0 genome.wustl.edu 37 19 57326846 57326846 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 57326846 57326846 C A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.2964 p.Q988H 0.980 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 99 0 0 90 25 21.7391 ZNF749 0 genome.wustl.edu 37 19 57955724 57955724 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 57955724 57955724 T A SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known missense c.1208 p.V403D 0.801 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 82 0 0 120 10 7.69231 INSR 0 genome.wustl.edu 37 19 7132175 7132175 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 7132175 7132175 C T SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.2836 p.D946N 0.995 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 101 0 0 44 10 18.5185 MISP 0 genome.wustl.edu 37 19 758149 758149 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 758149 758149 G A SNP MISP ENST00000215582 human ensembl 74_37 +1 known silent c.1203 p.P401 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 32 0 0 10 12 54.5455 MUC16 0 genome.wustl.edu 37 19 9071717 9071717 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 9071717 9071717 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.15729 p.V5243 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 137 0 0 86 23 21.1009 SLC35F5 0 genome.wustl.edu 37 2 114500332 114500332 + Silent SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 114500332 114500332 C G SNP SLC35F5 ENST00000245680 human ensembl 74_37 -1 known silent c.687 p.L229 0.993 NULL pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 102 0 0 131 10 7.0922 ACTR3 0 genome.wustl.edu 37 2 114699799 114699799 + Nonsense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 114699799 114699799 G T SNP ACTR3 ENST00000263238 human ensembl 74_37 +1 known nonsense c.721 p.E241* 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3 HGNC ENSG00000115091 26 0 0 48 24 33.3333 ERCC3 0 genome.wustl.edu 37 2 128044384 128044384 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 128044384 128044384 G T SNP ERCC3 ENST00000285398 human ensembl 74_37 -1 known missense c.1237 p.L413M 1.000 pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_Helicase_Ercc3 pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 143 0 0 69 36 34.2857 POTEE 0 genome.wustl.edu 37 2 131976470 131976470 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 131976470 131976470 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.495 p.D165 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 236 0 0 97 21 17.7966 TUBA3D 0 genome.wustl.edu 37 2 132238306 132238306 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 132238306 132238306 G T SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known missense c.1040 p.C347F 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 133 0 0 80 12 13.0435 THSD7B 0 genome.wustl.edu 37 2 137814225 137814225 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 137814225 137814225 G T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.375 p.K125N 0.001 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 57 0 0 53 6 10.1695 TBR1 0 genome.wustl.edu 37 2 162274729 162274729 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 162274729 162274729 C A SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known missense c.865 p.H289N 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 59 0 0 46 5 9.80392 XIRP2 0 genome.wustl.edu 37 2 168104063 168104063 + Missense_Mutation SNP A A C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 168104063 168104063 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.6161 p.N2054T 0.998 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 57 0 0 30 12 28.5714 KLHL41 0 genome.wustl.edu 37 2 170366712 170366712 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 170366712 170366712 G A SNP KLHL41 ENST00000284669 human ensembl 74_37 +1 known missense c.424 p.G142R 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL41 HGNC ENSG00000239474 181 0 0 191 12 5.91133 SF3B1 0 genome.wustl.edu 37 2 198263275 198263275 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 198263275 198263275 T C SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.3044 p.D1015G 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 89 0 0 98 7 6.66667 TMEM169 0 genome.wustl.edu 37 2 216964986 216964986 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 216964986 216964986 G A SNP TMEM169 ENST00000295658 human ensembl 74_37 +1 known silent c.615 p.S205 0.011 NULL NULL - no_errors TMEM169 HGNC ENSG00000163449 225 0 0 108 54 33.3333 COL4A4 0 genome.wustl.edu 37 2 227886829 227886829 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 227886829 227886829 G A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.4151 p.A1384V 0.902 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 246 0 0 161 10 5.84795 COPS7B 0 genome.wustl.edu 37 2 232672347 232672347 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 232672347 232672347 C T SNP COPS7B ENST00000350033 human ensembl 74_37 +1 known missense c.787 p.R263C 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors COPS7B HGNC ENSG00000144524 10 0 0 4 3 42.8571 COL6A3 0 genome.wustl.edu 37 2 238287440 238287440 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 238287440 238287440 C A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.2336 p.S779I 0.011 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 45 0 0 45 6 11.7647 COLEC11 0 genome.wustl.edu 37 2 3691470 3691470 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 3691470 3691470 T A SNP COLEC11 ENST00000418971 human ensembl 74_37 +1 known missense c.620 p.L207Q 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 87 0 0 76 6 7.31707 RTN4 0 genome.wustl.edu 37 2 55254236 55254236 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 55254236 55254236 C T SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known silent c.999 p.K333 0.088 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 25 0 0 81 5 5.81395 CCDC85A 0 genome.wustl.edu 37 2 56419955 56419955 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 56419955 56419955 T A SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.620 p.V207E 1.000 pfam_DUF2216_coiled-coil pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 91 0 0 80 11 12.0879 SIRPB1 0 genome.wustl.edu 37 20 1558984 1558984 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 20 1558984 1558984 C T SNP SIRPB1 ENST00000381605 human ensembl 74_37 -1 known missense c.433 p.A145T 0.079 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 166 0 0 136 24 15 FRG1B 0 genome.wustl.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 20 29633900 29633900 A G SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.539 p.E180G 1.000 NULL pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 72 0 0 40 5 11.1111 PTPRT 0 genome.wustl.edu 37 20 41101196 41101196 + Missense_Mutation SNP A A C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 20 41101196 41101196 A C SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1160 p.V387G 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 68 0 0 14 27 65.8537 SLC12A5 0 genome.wustl.edu 37 20 44665965 44665965 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 20 44665965 44665965 T A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.622 p.Y208N 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 67 0 0 28 14 33.3333 TPTE 0 genome.wustl.edu 37 21 10941929 10941929 + Silent SNP A A C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 21 10941929 10941929 A C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known silent c.774 p.S258 0.998 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 224 0 0 160 26 13.9785 TPTE 0 genome.wustl.edu 37 21 10941963 10941963 + Missense_Mutation SNP A A C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 21 10941963 10941963 A C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.740 p.I247S 1.000 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 192 0 0 161 20 11.0497 BAGE2 0 genome.wustl.edu 37 21 11038748 11038748 + RNA SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 21 11038748 11038748 C T SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 170 1 0.584795 188 24 11.3208 ADAMTS5 0 genome.wustl.edu 37 21 28315754 28315754 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 21 28315754 28315754 C A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1350 p.K450N 0.739 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 38 0 0 27 5 15.625 SCAF4 0 genome.wustl.edu 37 21 33044320 33044320 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 21 33044320 33044320 G C SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.2836 p.Q946E 0.941 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 76 0 0 56 12 17.6471 AGPAT3 0 genome.wustl.edu 37 21 45390565 45390565 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 21 45390565 45390565 C T SNP AGPAT3 ENST00000291572 human ensembl 74_37 +1 known missense c.542 p.T181M 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT3 HGNC ENSG00000160216 74 0 0 24 3 11.1111 COL6A2 0 genome.wustl.edu 37 21 47545973 47545973 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 21 47545973 47545973 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known silent c.2244 p.C748 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 286 0 0 129 11 7.85714 COL6A2 0 genome.wustl.edu 37 21 47552310 47552310 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 21 47552310 47552310 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known silent c.2904 p.N968 0.986 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 68 0 0 16 17 51.5152 RIMBP3 0 genome.wustl.edu 37 22 20457383 20457383 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 22 20457383 20457383 G T SNP RIMBP3 ENST00000426804 human ensembl 74_37 -1 known missense c.3919 p.P1307T 0.003 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 9 0 0 2 4 66.6667 BMS1P20 0 genome.wustl.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 22 22664606 22664606 A G SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors BMS1P20 HGNC ENSG00000236850 26 0 0 21 3 12.5 FAM83F 0 genome.wustl.edu 37 22 40417654 40417654 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 22 40417654 40417654 G A SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known silent c.1140 p.T380 0.000 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 66 0 0 30 9 23.0769 TBC1D22A 0 genome.wustl.edu 37 22 47274558 47274558 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 22 47274558 47274558 G A SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known missense c.647 p.R216Q 0.382 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 138 0 0 67 5 6.94444 IMPG2 0 genome.wustl.edu 37 3 100972610 100972610 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 100972610 100972610 C T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.1169 p.R390H 0.936 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 21 0 0 18 5 21.7391 EPHB1 0 genome.wustl.edu 37 3 134670563 134670563 + Silent SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 134670563 134670563 A T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.474 p.V158 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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 EPHB1 HGNC ENSG00000154928 256 0 0 199 19 8.7156 ZIC1 0 genome.wustl.edu 37 3 147128842 147128842 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 147128842 147128842 C T SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.943 p.R315C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 118 0 0 48 24 33.3333 PLD1 0 genome.wustl.edu 37 3 171405343 171405343 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 171405343 171405343 C A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.1571 p.R524I 0.259 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 57 0 0 79 5 5.95238 KCNMB2 0 genome.wustl.edu 37 3 178560462 178560462 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 178560462 178560462 G A SNP KCNMB2 ENST00000358316 human ensembl 74_37 +1 known missense c.445 p.G149R 1.000 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 57 0 0 46 32 41.0256 ABCC5 0 genome.wustl.edu 37 3 183660618 183660618 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 183660618 183660618 G A SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known silent c.3591 p.N1197 0.992 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 85 0 0 44 28 38.8889 MAP3K13 0 genome.wustl.edu 37 3 185195129 185195129 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 185195129 185195129 T A SNP MAP3K13 ENST00000265026 human ensembl 74_37 +1 known missense c.2446 p.S816T 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,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 - no_errors MAP3K13 HGNC ENSG00000073803 65 0 0 25 13 34.2105 MUC4 0 genome.wustl.edu 37 3 195492218 195492218 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 195492218 195492218 C G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.13721 p.W4574S 0.983 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 59 0 0 34 16 32 SDHAP1 0 genome.wustl.edu 37 3 195706728 195706728 + RNA SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 195706728 195706728 C T SNP SDHAP1 ENST00000413474 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 24 0 0 12 6 33.3333 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 161 0 0 75 39 34.2105 WDR6 0 genome.wustl.edu 37 3 49049539 49049539 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 49049539 49049539 C T SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.662 p.T221I 0.001 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 95 0 0 57 32 35.9551 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 215 0 0 97 11 10.1852 GRM2 0 genome.wustl.edu 37 3 51749890 51749890 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 51749890 51749890 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.2101 p.E701K 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,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 54 0 0 29 15 34.0909 TLR9 0 genome.wustl.edu 37 3 52257833 52257833 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 52257833 52257833 G T SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.571 p.H191N 0.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 238 0 0 146 25 14.6199 CNTN3 0 genome.wustl.edu 37 3 74344358 74344358 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 74344358 74344358 C A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.2431 p.A811S 0.985 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 66 0 0 37 12 24.4898 GRM7 0 genome.wustl.edu 37 3 7456772 7456772 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 3 7456772 7456772 G A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.1096 p.E366K 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 53 0 0 22 23 51.1111 ALPK1 0 genome.wustl.edu 37 4 113360967 113360967 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 113360967 113360967 G T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.3477 p.L1159F 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 50 0 0 36 10 21.7391 CEP170P1 0 genome.wustl.edu 37 4 119461400 119461400 + RNA SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 119461400 119461400 C T SNP CEP170P1 ENST00000412784 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CEP170P1 HGNC ENSG00000154608 51 0 0 31 4 11.4286 FAT4 0 genome.wustl.edu 37 4 126237908 126237908 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 126237908 126237908 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.342 p.A114 0.979 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 59 0 0 25 14 35.8974 ELF2 0 genome.wustl.edu 37 4 139994712 139994712 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 139994712 139994712 G A SNP ELF2 ENST00000379550 human ensembl 74_37 -1 known missense c.248 p.S83L 1.000 pfam_TF_Elf_N pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF2 HGNC ENSG00000109381 50 0 0 20 20 50 INPP4B 0 genome.wustl.edu 37 4 143114264 143114264 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 143114264 143114264 T C SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known missense c.1157 p.H386R 0.506 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 112 0 0 83 5 5.68182 RBM46 0 genome.wustl.edu 37 4 155719267 155719267 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 155719267 155719267 G T SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known missense c.456 p.K152N 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 55 0 0 44 12 21.4286 FSTL5 0 genome.wustl.edu 37 4 162307121 162307121 + Silent SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 162307121 162307121 C A SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known silent c.2322 p.G774 0.998 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 120 0 0 71 26 26.8041 TMEM192 0 genome.wustl.edu 37 4 166021837 166021837 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 166021837 166021837 A G SNP TMEM192 ENST00000306480 human ensembl 74_37 -1 known silent c.382 p.L128 0.872 NULL NULL - no_errors TMEM192 HGNC ENSG00000170088 59 0 0 21 11 34.375 FAT1 0 genome.wustl.edu 37 4 187541092 187541092 + Nonsense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 187541092 187541092 G T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known nonsense c.6648 p.Y2216* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 232 0 0 65 40 38.0952 HTT 0 genome.wustl.edu 37 4 3240697 3240697 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 3240697 3240697 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.9207 p.V3069 0.202 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 24 0 0 7 6 46.1538 GABRB1 0 genome.wustl.edu 37 4 47405587 47405587 + Nonsense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 47405587 47405587 C T SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known nonsense c.694 p.R232* 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 91 0 0 67 6 8.21918 MEPE 0 genome.wustl.edu 37 4 88767774 88767774 + RNA SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 4 88767774 88767774 A T SNP MEPE ENST00000508016 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MEPE HGNC ENSG00000152595 9 0 0 6 6 50 TRIM36 0 genome.wustl.edu 37 5 114473223 114473223 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 114473223 114473223 C T SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known missense c.958 p.A320T 0.992 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 108 0 0 75 21 21.875 TIFAB 0 genome.wustl.edu 37 5 134785360 134785360 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 134785360 134785360 C T SNP TIFAB ENST00000537858 human ensembl 74_37 -1 known silent c.270 p.T90 0.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain - no_errors TIFAB HGNC ENSG00000255833 223 0 0 103 13 11.2069 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 177 1 0.561798 47 28 37.3333 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 171 0 0 43 40 48.1928 PCDHA11 0 genome.wustl.edu 37 5 140249772 140249772 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 140249772 140249772 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1084 p.A362T 0.545 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 118 0 0 25 36 59.0164 PCDHA11 0 genome.wustl.edu 37 5 140249918 140249918 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 140249918 140249918 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1230 p.S410 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 283 0 0 45 69 60.5263 PCDHGA1 0 genome.wustl.edu 37 5 140711893 140711893 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 140711893 140711893 C A SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.1642 p.L548I 0.043 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 PCDHGA1 HGNC ENSG00000204956 397 0 0 214 12 5.30973 PCDHGA2 0 genome.wustl.edu 37 5 140720422 140720422 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 140720422 140720422 G A SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.1884 p.T628 0.000 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 PCDHGA2 HGNC ENSG00000081853 141 0 0 71 57 44.5312 PCDHGA12 0 genome.wustl.edu 37 5 140811189 140811189 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 140811189 140811189 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.863 p.A288V 0.001 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 165 0 0 121 9 6.92308 SH3TC2 0 genome.wustl.edu 37 5 148411175 148411175 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 148411175 148411175 C A SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.1077 p.E359D 0.885 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 82 0 0 28 11 28.2051 GRIA1 0 genome.wustl.edu 37 5 152870498 152870498 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 152870498 152870498 T C SNP GRIA1 ENST00000285900 human ensembl 74_37 +1 known missense c.50 p.V17A 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 282 0 0 94 17 15.3153 EBF1 0 genome.wustl.edu 37 5 158223440 158223440 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 158223440 158223440 C T SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known silent c.822 p.T274 0.995 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 70 0 0 18 3 14.2857 GABRA1 0 genome.wustl.edu 37 5 161324161 161324161 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 161324161 161324161 C T SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known silent c.1104 p.Y368 0.994 superfamily_Neurotrans-gated_channel_TM,prints_GABBAa1_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 166 0 0 59 46 43.8095 CDH18 0 genome.wustl.edu 37 5 19838884 19838884 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 19838884 19838884 G A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.212 p.P71L 1.000 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 30 0 0 40 9 18.3673 GPBP1 0 genome.wustl.edu 37 5 56526984 56526984 + Missense_Mutation SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 56526984 56526984 A G SNP GPBP1 ENST00000424459 human ensembl 74_37 +1 known missense c.247 p.N83D 1.000 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 73 0 0 44 3 6.38298 ATG10 0 genome.wustl.edu 37 5 81474361 81474361 + Nonsense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 81474361 81474361 T A SNP ATG10 ENST00000282185 human ensembl 74_37 +1 known nonsense c.408 p.Y136* 0.150 pfam_Autophagy-rel_prot_3 pfam_Autophagy-rel_prot_3 - no_errors ATG10 HGNC ENSG00000152348 132 0 0 55 17 23.6111 VCAN 0 genome.wustl.edu 37 5 82835937 82835937 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 82835937 82835937 G T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.7115 p.S2372I 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 70 0 0 42 33 44 VCAN 0 genome.wustl.edu 37 5 82837419 82837419 + Missense_Mutation SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 82837419 82837419 A T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.8597 p.K2866M 0.248 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 106 0 0 89 8 8.24742 TTC37 0 genome.wustl.edu 37 5 94857966 94857966 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 5 94857966 94857966 C A SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.1803 p.W601C 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 67 0 0 52 19 26.7606 EDN1 0 genome.wustl.edu 37 6 12290906 12290906 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 12290906 12290906 G T SNP EDN1 ENST00000379375 human ensembl 74_37 +1 known missense c.44 p.C15F 0.996 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN1 HGNC ENSG00000078401 66 0 0 25 17 40.4762 UTRN 0 genome.wustl.edu 37 6 145124231 145124231 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 145124231 145124231 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.9305 p.R3102Q 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_Znf_ZZ pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 56 0 0 32 8 20 ZKSCAN8 0 genome.wustl.edu 37 6 28121579 28121579 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 28121579 28121579 A G SNP ZKSCAN8 ENST00000330236 human ensembl 74_37 +1 known silent c.1521 p.E507 0.610 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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 ZKSCAN8 HGNC ENSG00000198315 78 0 0 52 7 11.8644 OR12D2 0 genome.wustl.edu 37 6 29365024 29365024 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 29365024 29365024 T C SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known missense c.548 p.L183P 0.060 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 143 0 0 125 19 13.1944 VWA7 0 genome.wustl.edu 37 6 31733544 31733544 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 31733544 31733544 G A SNP VWA7 ENST00000375686 human ensembl 74_37 -1 known missense c.2531 p.P844L 0.003 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 29 0 0 35 3 7.89474 EHMT2 0 genome.wustl.edu 37 6 31864759 31864759 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 31864759 31864759 G T SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.221 p.A74D 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 128 0 0 102 14 12.069 GPSM3 0 genome.wustl.edu 37 6 32159232 32159232 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 32159232 32159232 C T SNP GPSM3 ENST00000375040 human ensembl 74_37 -1 known missense c.394 p.G132R 1.000 smart_GoLoco_motif,pfscan_GoLoco_motif pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 129 0 0 68 30 30.6122 KIFC1 0 genome.wustl.edu 37 6 33374045 33374045 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 33374045 33374045 C T SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known missense c.1609 p.R537C 0.992 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 336 0 0 118 16 11.9403 DNAH8 0 genome.wustl.edu 37 6 38899592 38899592 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 38899592 38899592 A G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.10629 p.K3543 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 156 0 0 67 43 39.0909 DAAM2 0 genome.wustl.edu 37 6 39869752 39869752 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 39869752 39869752 G A SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.3146 p.R1049Q 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 68 0 0 28 4 12.5 PEX6 0 genome.wustl.edu 37 6 42941748 42941748 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 42941748 42941748 G A SNP PEX6 ENST00000304611 human ensembl 74_37 -1 known silent c.1123 p.L375 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 73 0 0 25 13 34.2105 RREB1 0 genome.wustl.edu 37 6 7182219 7182219 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 7182219 7182219 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.75 p.M25I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 149 0 0 100 18 15.2542 COL12A1 0 genome.wustl.edu 37 6 75798837 75798837 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 75798837 75798837 G T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.8995 p.L2999M 0.090 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 41 0 0 26 9 25.7143 ORC3 0 genome.wustl.edu 37 6 88376828 88376828 + Nonsense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 88376828 88376828 G A SNP ORC3 ENST00000257789 human ensembl 74_37 +1 known nonsense c.2126 p.W709* 1.000 NULL pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 46 0 0 16 17 51.5152 NAT16 0 genome.wustl.edu 37 7 100816771 100816771 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 100816771 100816771 C G SNP NAT16 ENST00000300303 human ensembl 74_37 -1 known missense c.343 p.A115P 0.709 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT16 HGNC ENSG00000167011 51 0 0 18 9 33.3333 PPP1R3A 0 genome.wustl.edu 37 7 113519479 113519479 + Silent SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 113519479 113519479 T C SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known silent c.1668 p.G556 0.004 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 93 0 0 64 27 29.6703 TMEM213 0 genome.wustl.edu 37 7 138522741 138522741 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 138522741 138522741 G C SNP TMEM213 ENST00000413208 human ensembl 74_37 +1 putative missense c.282 p.W94C 0.869 NULL NULL - no_errors TMEM213 HGNC ENSG00000214128 32 0 0 33 3 8.33333 TMEM139 0 genome.wustl.edu 37 7 142983557 142983557 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 142983557 142983557 G A SNP TMEM139 ENST00000359333 human ensembl 74_37 +1 known missense c.286 p.V96M 0.000 NULL NULL - no_errors TMEM139 HGNC ENSG00000178826 179 1 0.555556 93 8 7.92079 KMT2C 0 genome.wustl.edu 37 7 151835972 151835972 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 151835972 151835972 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.14723 p.C4908Y 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 77 0 0 86 7 7.52688 FERD3L 0 genome.wustl.edu 37 7 19184535 19184535 + Missense_Mutation SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 19184535 19184535 A G SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known missense c.451 p.S151P 0.998 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 62 0 0 40 4 9.09091 ABCB5 0 genome.wustl.edu 37 7 20698214 20698214 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 20698214 20698214 G A SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.287 p.R96Q 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 70 0 0 56 8 12.5 TRA2A 0 genome.wustl.edu 37 7 23556109 23556109 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 23556109 23556109 C T SNP TRA2A ENST00000297071 human ensembl 74_37 -1 known missense c.209 p.R70Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 65 0 0 68 9 11.6883 BMPER 0 genome.wustl.edu 37 7 34182863 34182863 + Silent SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 34182863 34182863 T C SNP BMPER ENST00000297161 human ensembl 74_37 +1 known silent c.1767 p.C589 0.991 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 125 0 0 111 7 5.9322 ELMO1 0 genome.wustl.edu 37 7 36934570 36934570 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 36934570 36934570 C G SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1490 p.S497T 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 60 0 0 63 10 13.6986 SDK1 0 genome.wustl.edu 37 7 4008964 4008964 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 4008964 4008964 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.1622 p.A541V 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 331 0 0 186 74 28.4615 GLI3 0 genome.wustl.edu 37 7 42007505 42007505 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 42007505 42007505 G C SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2120 p.P707R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 147 0 0 95 14 12.844 GLI3 0 genome.wustl.edu 37 7 42007506 42007506 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 42007506 42007506 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2119 p.P707T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 145 0 0 96 13 11.9266 CAMK2B 0 genome.wustl.edu 37 7 44323802 44323802 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 44323802 44323802 G A SNP CAMK2B ENST00000395749 human ensembl 74_37 -1 known missense c.88 p.R30C 0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2B HGNC ENSG00000058404 45 0 0 15 7 31.8182 TNRC18 0 genome.wustl.edu 37 7 5363880 5363880 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 5363880 5363880 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.6407 p.P2136L 0.983 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 36 0 0 36 3 7.69231 FBXL18 0 genome.wustl.edu 37 7 5521433 5521433 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 5521433 5521433 G A SNP FBXL18 ENST00000382368 human ensembl 74_37 -1 known silent c.2130 p.A710 0.336 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 252 0 0 164 9 5.20231 CCZ1 0 genome.wustl.edu 37 7 5949682 5949682 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 5949682 5949682 G A SNP CCZ1 ENST00000325974 human ensembl 74_37 +1 known missense c.715 p.D239N 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1 HGNC ENSG00000122674 34 0 0 21 19 47.5 ZNF736 0 genome.wustl.edu 37 7 63809447 63809447 + Nonsense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 63809447 63809447 T A SNP ZNF736 ENST00000355095 human ensembl 74_37 +1 known nonsense c.1206 p.C402* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF736 HGNC ENSG00000234444 30 0 0 3 2 40 ZNF117 0 genome.wustl.edu 37 7 64439222 64439222 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 64439222 64439222 G A SNP ZNF117 ENST00000282869 human ensembl 74_37 -1 known missense c.727 p.H243Y 0.990 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF117 HGNC ENSG00000152926 72 0 0 75 5 6.25 CCZ1B 0 genome.wustl.edu 37 7 6854460 6854460 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 6854460 6854460 C T SNP CCZ1B ENST00000316731 human ensembl 74_37 -1 known missense c.715 p.D239N 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1B HGNC ENSG00000146574 116 1 0.854701 107 9 7.75862 CLIP2 0 genome.wustl.edu 37 7 73790905 73790905 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 73790905 73790905 G A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.2174 p.R725H 0.698 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 50 0 0 16 15 48.3871 PCLO 0 genome.wustl.edu 37 7 82764700 82764700 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 82764700 82764700 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.2166 p.Q722H 0.025 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 67 0 0 53 7 11.6667 PCLO 0 genome.wustl.edu 37 7 82784197 82784197 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 82784197 82784197 G C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.1760 p.T587S 1.000 pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 402 0 0 280 23 7.59076 SEMA3D 0 genome.wustl.edu 37 7 84697592 84697592 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 84697592 84697592 T C SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.504 p.I168M 0.001 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 56 0 0 49 4 7.54717 C7orf62 0 genome.wustl.edu 37 7 88424067 88424067 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 88424067 88424067 C A SNP C7orf62 ENST00000297203 human ensembl 74_37 -1 known missense c.190 p.D64Y 0.005 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 76 0 0 80 25 23.8095 RIMS2 0 genome.wustl.edu 37 8 104898052 104898052 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 104898052 104898052 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1225 p.S409P 1.000 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 65 0 0 88 28 24.1379 CSMD3 0 genome.wustl.edu 37 8 113933896 113933896 + Missense_Mutation SNP T T G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 113933896 113933896 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1593 p.E531D 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 65 0 0 85 5 5.55556 TRPS1 0 genome.wustl.edu 37 8 116599582 116599582 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 116599582 116599582 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.2346 p.K782 0.995 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 428 0 0 393 42 9.65517 ADCY8 0 genome.wustl.edu 37 8 131880177 131880177 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 131880177 131880177 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2125 p.D709N 1.000 pfam_Adenylate_cyclase-like 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 39 0 0 56 4 6.66667 ADCY8 0 genome.wustl.edu 37 8 132052235 132052235 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 132052235 132052235 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.345 p.S115 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 12 0 0 12 6 33.3333 TG 0 genome.wustl.edu 37 8 133925324 133925324 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 133925324 133925324 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4192 p.R1398C 0.889 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 53 0 0 27 35 56.4516 TG 0 genome.wustl.edu 37 8 134042161 134042161 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 134042161 134042161 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.7132 p.R2378W 0.693 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 79 0 0 66 24 26.6667 CYP11B1 0 genome.wustl.edu 37 8 143961216 143961216 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 143961216 143961216 G T SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.14 p.A5E 0.013 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 237 0 0 125 43 25.5952 UBXN8 0 genome.wustl.edu 37 8 30623815 30623815 + RNA SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 30623815 30623815 C T SNP UBXN8 ENST00000265616 human ensembl 74_37 +1 known rna NULL NULL 0.065 - - - no_errors UBXN8 HGNC ENSG00000104691 34 0 0 35 4 10.2564 NRG1 0 genome.wustl.edu 37 8 32505683 32505683 + Silent SNP T T G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 32505683 32505683 T G SNP NRG1 ENST00000520502 human ensembl 74_37 +1 known silent c.447 p.S149 0.535 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG1 HGNC ENSG00000157168 81 0 0 152 8 5 PREX2 0 genome.wustl.edu 37 8 69002817 69002817 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 69002817 69002817 C G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2117 p.T706S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 46 0 0 85 5 5.55556 TERF1 0 genome.wustl.edu 37 8 73951418 73951418 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 73951418 73951418 G A SNP TERF1 ENST00000276603 human ensembl 74_37 +1 known silent c.1107 p.P369 0.000 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 33 0 0 23 8 25.8065 ZFHX4 0 genome.wustl.edu 37 8 77766219 77766219 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 77766219 77766219 T A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.7062 p.D2354E 0.995 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 303 0 0 154 47 23.3831 ZFHX4 0 genome.wustl.edu 37 8 77766560 77766560 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 8 77766560 77766560 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.7403 p.T2468K 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 42 0 0 48 19 28.3582 GABBR2 0 genome.wustl.edu 37 9 101304173 101304173 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 9 101304173 101304173 G A SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known silent c.612 p.D204 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 72 0 0 38 5 11.6279 USP20 0 genome.wustl.edu 37 9 132637006 132637006 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 9 132637006 132637006 C T SNP USP20 ENST00000315480 human ensembl 74_37 +1 known missense c.1892 p.S631L 0.999 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 158 0 0 94 6 6 GLT6D1 0 genome.wustl.edu 37 9 138518015 138518015 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 9 138518015 138518015 C G SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.157 p.A53P 0.987 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 111 1 0.892857 61 25 29.0698 SEC16A 0 genome.wustl.edu 37 9 139358985 139358985 + Missense_Mutation SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 9 139358985 139358985 A T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.4333 p.F1445I 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 128 0 0 79 13 14.1304 PNPLA7 0 genome.wustl.edu 37 9 140373543 140373543 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 9 140373543 140373543 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.2728 p.R910C 0.960 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 17 0 0 3 4 57.1429 IFNB1 0 genome.wustl.edu 37 9 21077644 21077644 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 9 21077644 21077644 G A SNP IFNB1 ENST00000380232 human ensembl 74_37 -1 known silent c.225 p.D75 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNB1 HGNC ENSG00000171855 152 0 0 77 61 44.2029 GPRASP1 0 genome.wustl.edu 37 X 101912116 101912116 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 X 101912116 101912116 G A SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.3275 p.S1092N 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 238 0 0 59 78 56.9343 IRS4 0 genome.wustl.edu 37 X 107975886 107975886 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 X 107975886 107975886 T A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.3689 p.D1230V 0.833 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 269 0 0 143 14 8.9172 IRS4 0 genome.wustl.edu 37 X 107978368 107978368 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 X 107978368 107978368 T A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.1207 p.S403C 0.626 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 138 0 0 76 10 11.6279 DCX 0 genome.wustl.edu 37 X 110576315 110576315 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 X 110576315 110576315 G T SNP DCX ENST00000338081 human ensembl 74_37 -1 known missense c.1015 p.R339S 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 47 0 0 25 3 10.7143 DDX26B 0 genome.wustl.edu 37 X 134681170 134681170 + Missense_Mutation SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 X 134681170 134681170 A G SNP DDX26B ENST00000370752 human ensembl 74_37 +1 known missense c.722 p.D241G 1.000 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 133 0 0 50 71 58.6777 MCF2 0 genome.wustl.edu 37 X 138699694 138699694 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 X 138699694 138699694 T A SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known missense c.1412 p.K471I 0.999 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 131 0 0 31 67 68.3673 KDM5C 0 genome.wustl.edu 37 X 53230786 53230786 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 X 53230786 53230786 C G SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.2007 p.E669D 0.998 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 109 0 0 53 4 7.01754 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037856 10037856 + RNA SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 Y 10037856 10037856 G A SNP RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 23 0 0 7 3 30 VSIG8 0 genome.wustl.edu 37 1 159825771 159825773 + In_Frame_Del DEL GCA GCA - TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 159825771 159825773 GCA - DEL VSIG8 ENST00000368100 human ensembl 74_37 -1 known in_frame_del c.873_871 p.C291in_frame_del 0.998:1.000:1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG8 HGNC ENSG00000243284 22 0 0 15 2 11.7647 ZMYM1 0 genome.wustl.edu 37 1 35563024 35563025 + Frame_Shift_Ins INS - - A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 1 35563024 35563025 - A INS ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel frame_shift_ins c.276_277 p.I94fs 1.000:1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 166 0 0 106 59 35.7576 MYO9A 0 genome.wustl.edu 37 15 72190282 72190283 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 15 72190282 72190283 TC - DEL MYO9A ENST00000424560 human ensembl 74_37 -1 known frame_shift_del c.4562_4561 p.D1521fs 0.998:1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 69 0 0 37 17 31.4815 GPATCH8 0 genome.wustl.edu 37 17 42478621 42478622 + Frame_Shift_Del DEL GC GC - TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 17 42478621 42478622 GC - DEL GPATCH8 ENST00000591680 human ensembl 74_37 -1 known frame_shift_del c.824_823 p.A275fs 1.000:0.147 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 154 0 0 94 48 33.8028 BCAS3 0 genome.wustl.edu 37 17 59465992 59465992 + Frame_Shift_Del DEL A A - TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 17 59465992 59465992 A - DEL BCAS3 ENST00000589222 human ensembl 74_37 +1 known frame_shift_del c.2673 p.K894fs 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 12 0 0 3 3 50 YIPF2 0 genome.wustl.edu 37 19 11034677 11034678 + Splice_Site INS - - G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 11034677 11034678 - G INS YIPF2 ENST00000253031 human ensembl 74_37 -1 known splice_site_ins c.485-3_485-2 e6-2 1.000:0.994 - - - no_errors YIPF2 HGNC ENSG00000130733 50 0 0 21 3 12.5 ZNF443 0 genome.wustl.edu 37 19 12542651 12542652 + Frame_Shift_Ins INS - - TT TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 19 12542651 12542652 - TT INS ZNF443 ENST00000301547 human ensembl 74_37 -1 known frame_shift_ins c.335_334 p.V112fs 0.000:0.000 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 ZNF443 HGNC ENSG00000180855 77 0 0 61 8 11.5942 SCN3A 0 genome.wustl.edu 37 2 166003266 166003267 + Frame_Shift_Ins INS - - T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 2 166003266 166003267 - T INS SCN3A ENST00000283254 human ensembl 74_37 -1 known frame_shift_ins c.1654_1653 p.F551fs 0.953:0.777 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 130 0 0 94 32 25.3968 RRBP1 0 genome.wustl.edu 37 20 17622545 17622546 + Frame_Shift_Ins INS - - GGTC TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 20 17622545 17622546 - GGTC INS RRBP1 ENST00000246043 human ensembl 74_37 -1 known frame_shift_ins c.2081_2080 p.P694fs 1.000:1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 218 0 0 120 24 16.6667 HIVEP2 0 genome.wustl.edu 37 6 143095414 143095415 + Frame_Shift_Ins INS - - T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 6 143095414 143095415 - T INS HIVEP2 ENST00000012134 human ensembl 74_37 -1 known frame_shift_ins c.462_461 p.I155fs 1.000:1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 177 0 0 143 40 21.8579 MAGI2 0 genome.wustl.edu 37 7 77762312 77762312 + Frame_Shift_Del DEL G G - TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 7 77762312 77762312 G - DEL MAGI2 ENST00000354212 human ensembl 74_37 -1 known frame_shift_del c.3097 p.L1033fs 0.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 248 1 0.401606 130 64 32.9897 DAPK1 0 genome.wustl.edu 37 9 90312111 90312111 + Frame_Shift_Del DEL A A - TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 9 90312111 90312111 A - DEL DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_del c.2603 p.E868fs 1.000 superfamily_P-loop_NTPase pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 20 0 0 30 30 50 MAP7D3 0 genome.wustl.edu 37 X 135313186 135313186 + RNA DEL T T - TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 X 135313186 135313186 T - DEL MAP7D3 ENST00000477124 human ensembl 74_37 -1 putative rna NULL NULL 0.018 - - - no_errors MAP7D3 HGNC ENSG00000129680 30 0 0 27 4 12.9032