Spreadsheet: 27f89675-af94-4c24-8af9-d3b031d47e69
Sheet: Sheet1

Genes Predicted to be Affected by [NAME] | Unnamed: 1 | Unnamed: 2 | Unnamed: 3 | Unnamed: 4 | Unnamed: 5 | Unnamed: 6 | Unnamed: 7 | Unnamed: 8 | Unnamed: 9 | Unnamed: 10
These are genes (based on refGene and knownGene hg18 gene models) that are predicted to contain homozygous mutations that interrupt the protein coding sequence (genes annotated with one or more of the following tags: early-termination, frameshift, intron-splice-site-mutation, start-codon-loss, stop-codon-loss, not_dbSNP, or is_dbSNP)
hg18.kgXref.geneSymbol | hg18.knownGene.name | hg18.knownToLocusLink.value | hg18.knownGene.chrom | hg18.knownGene.txStart | hg18.knownGene.txEnd | go.goaPart.goId | go.term.name | variant information
VDR | uc001rql.1,uc001rqm.1,uc001rqn.1 | 7421 | chr12 | 46521586 | 46585081 | GO:0001501,GO:0003677,GO:0003700,GO:0003707,GO:0004872,GO:0004879,GO:0005515,GO:0005634,GO:0006350,GO:0006355,GO:0006816,GO:0006874,GO:0007165,GO:0007275,GO:0008270,GO:0008434,GO:0009887,GO:0016481,GO:0043565,GO:0046872,GO:0050892 | skeletal development,DNA binding,transcription factor activity,steroid hormone receptor activity,receptor activity,ligand-dependent nuclear receptor activity,protein binding,nucleus,transcription,regulation of transcription, DNA-dependent,calcium ion transport,cellular calcium ion homeostasis,signal transduction,multicellular organismal development,zinc ion binding,vitamin D3 receptor activity,organ morphogenesis,negative regulation of transcription,sequence-specific DNA binding,metal ion binding | chr12:46559161-46559162_A->G(6:5:83.3%[F:2:33.3%|R:3:50.0%]call=homozygous:genome_phred=65.0:snp_phred=74.0:max_mapping_qual=51.0:genome_max_qual=7.0:genome_ave_qual=7.0:snp_max_qual=63.0:snp_ave_qual=47.2:mismatch_id=2651655:BC060832:chr12:P11473:NM_001017535:NM_000376:NP_001017535:coding-nonsynonymous:uc001rql.1:VDR:uc001rqn.1:homozygous:uc001rqm.1:start-codon-loss:NP_000367:B2R5Q1:is_dbSNP=rs2228570)
NPDC1 | uc004cks.1,uc004cku.1,uc004ckt.1,uc004ckr.1 | 56654 | chr9 | 139053769 | 139060476 |  |  | chr9:139057619-139057620_G->A(10:10:100.0%[F:5:50.0%|R:5:50.0%]call=homozygous:genome_phred=89.0:snp_phred=89.0:max_mapping_qual=28.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=45.0:mismatch_id=2898275:NPDC1:NM_015392:early-termination:uc004cks.1:NP_056207:chr9:homozygous:Q5SPY9:coding-nonsynonymous:AK054950:is_dbSNP=rs10781536)
CREB3L1 | uc001ncf.1 | 90993 | chr11 | 46255803 | 46299548 |  |  | chr11:46298835-46298836_INS:-->G(18:16:88.9%[F:9:50.0%|R:7:38.9%]call=homozygous:genome_phred=42.0:snp_phred=549.0:max_mapping_qual=41.0:mismatch_id=6401657:NP_443086:chr11:not_dbSNP:intron-splice-site-mutation:NM_052854:uc001ncg.1:AF055009:homozygous:CREB3L1:frameshift:stop-codon-loss:uc001ncf.1:OASIS)
HFM1 | uc001doa.2,uc001doc.1,uc001dob.2,uc009wdb.1 | 164045 | chr1 | 91498910 | 91590796 |  |  | chr1:91554000-91554001_T->G(13:13:100.0%[F:7:53.8%|R:6:46.2%]call=homozygous:genome_phred=98.0:snp_phred=98.0:max_mapping_qual=49.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=55.5:[NAME]:uc001dob.2:utr-mutation:BX649037:uc001doa.2:B1B0B5:B1B0B6:coding-nonsynonymous:NP_001017975:NM_001017975:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:stop-codon-loss:chr1:is_dbSNP=rs281992:HFM1:abnormal-ref-gene-model-lacking-start-codon)
KIAA1783 | uc010dgh.1,uc002jom.1,uc010dgi.1,uc010dgj.1,uc002jor.1,uc002joo.1,uc002joq.2,uc002jon.1 | 80022 | chr17 | 71127312 | 71128851 |  |  | chr17:71124237-71124238_INS:-->T(8:4:50.0%[F:3:37.5%|R:1:12.5%]call=homozygous:genome_phred=55.0:snp_phred=232.0:max_mapping_qual=47.0:mismatch_id=9721952:uc002jor.1:AF418293:early-termination:KIAA1783:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:chr17:start-codon-loss:intron-splice-site-mutation:is_dbSNP=rs11439064)
TMEM216 | uc001nrn.1 | 51259 | chr11 | 60916440 | 60922899 |  |  | chr11:60922307-60922308_INS:-->A(15:11:73.3%[F:5:33.3%|R:6:40.0%]call=homozygous:genome_phred=43.0:snp_phred=421.0:max_mapping_qual=35.0:mismatch_id=6760439:chr11:uc001nrn.1:TMEM216:homozygous:NM_016499:NP_057583:intron-splice-site-mutation:Q9P0N5:is_dbSNP=rs11382548)
IFI35 | uc010cyv.1 | 3430 | chr17 | 38412350 | 38419999 |  |  | chr17:38419018-38419019_A->G(14:14:100.0%[F:6:42.9%|R:8:57.1%]call=homozygous:genome_phred=101.0:snp_phred=101.0:max_mapping_qual=49.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=61.0:snp_ave_qual=48.5:mismatch_id=3310856:NM_005533:P80217-2:homozygous:chr17:uc010cyv.1:coding-nonsynonymous:intron-splice-site-mutation:IFI35:NP_005524:is_dbSNP=rs588703)
KLHDC8A | uc001hcf.1,uc001hcg.1 | 55220 | chr1 | 203572270 | 203592789 |  |  | chr1:203584125-203584126_C->T(17:17:100.0%[F:8:47.1%|R:9:52.9%]call=homozygous:genome_phred=110.0:snp_phred=110.0:max_mapping_qual=47.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=50.4:mismatch_id=1981027:KLHDC8A:uc001hcg.1:homozygous:AK096590:Q8IYD2:chr1:intron-splice-site-mutation:NP_060673:is_dbSNP=[NAME]:NM_018203)
C14orf105 | uc001xcz.2,uc010aox.1,uc001xcy.2,uc010aoy.1 | 55195 | chr14 | 57015253 | 57030329 |  |  | chr14:57018132-57018133_T->C(47:40:85.1%[F:27:57.4%|R:13:27.7%]call=homozygous:genome_phred=122.0:snp_phred=177.0:max_mapping_qual=45.0:genome_max_qual=15.0:genome_ave_qual=6.0:snp_max_qual=63.0:snp_ave_qual=50.0:mismatch_id=2818537:NM_018168:homozygous:C14orf105:chr14:NP_060638:intron-splice-site-mutation:Q9NVL8:uc001xcy.2:is_dbSNP=rs1152522)
TSPAN32 | uc001lwd.1,uc001lvz.1,uc001lvx.1,uc001lwc.1,uc001lvy.1,uc001lwb.1 | 10077 | chr11 | 2292841 | 2296006 |  |  | chr11:2280616-2280617_A->G(7:7:100.0%[F:3:42.9%|R:4:57.1%]call=homozygous:genome_phred=80.0:snp_phred=80.0:max_mapping_qual=50.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=49.7:mismatch_id=1865206:NP_620591:utr-mutation:chr11:AF125569:TSPAN32:homozygous:Q96QS1-2:NM_139022:start-codon-loss:coding-nonsynonymous:uc001lvz.1:is_dbSNP=rs2074022)
CNTROB | uc002gjr.1,uc002gjp.1,uc002gjq.1 | 116840 | chr17 | 7778180 | 7793621 |  |  | chr17:7776573-7776579_DEL:GGAGCT->------(26:18:69.2%[F:8:30.8%|R:10:38.5%]call=homozygous:genome_phred=92.0:snp_phred=655.0:max_mapping_qual=40.0:[NAME]:utr-mutation:uc002gjp.1:not_dbSNP:NP_001032221:intron-splice-site-mutation:Q8N137-2:NM_001037144:homozygous:CNTROB:NM_053051:uc002gjq.1:chr17:Q8N137:NP_444279)
[NAME] | uc010kul.1,uc003sve.2,uc010kuk.1,uc003svf.2 | 55536 | chr7 | 21907041 | 21952067 | GO:0051301 | cell division | chr7:21908386-21908390_DEL:TCTT->----(29:20:69.0%[F:11:37.9%|R:9:31.0%]call=homozygous:genome_phred=70.0:snp_phred=784.0:max_mapping_qual=40.0:mismatch_id=693781:AY161168:utr-mutation:uc010kuk.1:not_dbSNP:NP_061189:NP_001120842:NP_001120843:uc010kul.1:intron-splice-site-mutation:[NAME]:A4D141:chr7:uc003svf.2:NM_001127370:NM_018719:homozygous:NM_001127371:[NAME]:uc003sve.2:[NAME])
ZNF559 | uc002mlh.1,uc010dwo.1,uc010dwm.1,uc010dwl.1,uc002mlf.2,uc002mle.2,uc002mlg.1,uc010dwn.1,uc002mld.2,uc010dwk.1 | 84527 | chr19 | 9295854 | 9322838 |  |  | chr19:9313026-9313028_DEL:CT->--(23:21:91.3%[F:10:43.5%|R:11:47.8%]call=homozygous:genome_phred=90.0:snp_phred=822.0:max_mapping_qual=50.0:mismatch_id=8994877:utr-mutation:AX747491:ZNF559:Q3LIC1:NP_115886:not_dbSNP:uc010dwm.1:NM_032497:AK310117:uc010dwn.1:[NAME]:AK310781:homozygous:uc002mld.2:frameshift:chr19)
GPR112 | uc010nsc.1,uc010nsb.1,uc004ezu.1 | 139378 | chrX | 135254216 | 135271412 |  |  | chrX:135302110-135302113_DEL:GAT->---(11:11:100.0%[F:4:36.4%|R:7:63.6%]call=homozygous:genome_phred=71.0:snp_phred=399.0:max_mapping_qual=38.0:mismatch_id=10704925:CR936801:uc004ezu.1:NM_153834:chrX:homozygous:not_dbSNP:NP_722576:frameshift:uc010nsb.1:GPR112:A2A2J1:A2A2J2)
NLRP8 | uc010etg.1,uc002qmh.1 | 126205 | chr19 | 61151009 | 61191807 |  |  | chr19:61191090-61191091_G->C(20:18:90.0%[F:12:60.0%|R:6:30.0%]call=homozygous:genome_phred=76.0:snp_phred=113.0:max_mapping_qual=46.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=51.5:mismatch_id=3934743:utr-mutation:NLRP8:Q86W28-2:coding-nonsynonymous:uc002qmh.1:NM_176811:Q86W28:uc010etg.1:homozygous:NP_789781:stop-codon-loss:chr19:AY154463:is_dbSNP=rs306457)
MS4A7 | uc001nph.1,uc009ymx.1,uc001npg.1,uc001npf.1,uc001npe.1 | 58475 | chr11 | 59902533 | 59914034 |  |  | chr11:59913741-59913742_C->T(18:18:100.0%[F:5:27.8%|R:13:72.2%]call=homozygous:genome_phred=113.0:snp_phred=113.0:max_mapping_qual=41.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=50.6:mismatch_id=2561004:MS4A7:early-termination:chr11:NP_996823:homozygous:AK309884:NM_206940:coding-nonsynonymous:uc009ymx.1:is_dbSNP=rs2233253)
ZNF626 | uc002npc.1,uc002npb.1,uc002npd.1 | 199777 | chr19 | 20619348 | 20636242 | GO:0003676,GO:0005622,GO:0006355 | nucleic acid binding,intracellular,regulation of transcription | chr19:20599277-20599278_A->G(15:15:100.0%[F:4:26.7%|R:11:73.3%]call=homozygous:genome_phred=104.0:snp_phred=104.0:max_mapping_qual=40.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=52.9:mismatch_id=3566765:NP_001070143:ZNF626:coding-nonsynonymous:AK096221:NM_001076675:homozygous:abnormal-ref-gene-model-lacking-stop-codon:uc002npb.1:coding-synonymous:stop-codon-loss:chr19:[NAME]:abnormal-ref-gene-model-lacking-start-codon:uc002npc.1:is_dbSNP=rs62107362)
GAS11 | uc010cjc.1,uc002fqj.1 | 2622 | chr16 | 88616508 | 88638880 |  |  | chr16:88638450-88638451_C->T(13:11:84.6%[F:4:30.8%|R:7:53.8%]call=homozygous:genome_phred=66.0:snp_phred=92.0:[NAME]:genome_max_qual=2.0:genome_ave_qual=1.5:snp_max_qual=63.0:snp_ave_qual=56.3:mismatch_id=3764116:O95995:utr-mutation:early-termination:BC089450:BC044232:coding-nonsynonymous:GAS8:BX647947:uc002fqi.1:uc010cjc.1:uc010cjd.1:uc002fqh.1:NR_023348:BC036781:NM_001481:homozygous:[NAME]:GAS11:NP_001472:uc002fql.2:chr16:is_dbSNP=rs1048149:uc002fqj.1)
EYS | uc003per.1,uc003peq.2 | 346007 | chr6 | 66101526 | 66346418 | GO:0005576 | extracellular region | chr6:66062690-66062691_G->A(14:11:78.6%[F:8:57.1%|R:3:21.4%]call=homozygous:genome_phred=71.0:snp_phred=92.0:max_mapping_qual=47.0:genome_max_qual=12.0:genome_ave_qual=4.7:snp_max_qual=63.0:snp_ave_qual=49.8:mismatch_id=680026:chr6:early-termination:EYS:NP_001136272:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:NM_001142800:coding-nonsynonymous:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=[NAME])
CLTCL1 | uc002zpd.1,uc002zpe.1,uc002zpc.1,uc010grm.1,uc002zpb.1 | 8218 | chr22 | 17563872 | 17583344 |  |  | chr22:17569003-17569004_INS:-->C(27:24:88.9%[F:10:37.0%|R:14:51.9%]call=homozygous:genome_phred=113.0:snp_phred=953.0:max_mapping_qual=49.0:mismatch_id=9158461:AY927416:NP_009029:uc002zpb.1:NM_007098:AY927417:AY927418:chr22:not_dbSNP:uc002zpe.1:intron-splice-site-mutation:uc002zpd.1:uc010grm.1:homozygous:CLTCL1)
SLC37A4 | uc001pus.1,uc009zan.1,uc009zam.1,uc001puq.2,uc001pur.2 | 2542 | chr11 | 118400273 | 118405484 |  |  | chr11:118403645-118403646_DEL:C->-(6:5:83.3%[F:2:33.3%|R:3:50.0%]call=homozygous:genome_phred=16.0:snp_phred=119.0:max_mapping_qual=52.0:mismatch_id=8182687:utr-mutation:NP_001458:chr11:uc001puq.2:SLC37A4:NM_001467:intron-splice-site-mutation:AK312628:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:uc001pus.1:is_dbSNP=rs5795159)
PKD1L2 | uc002fgi.1,uc002fgl.1,uc002fgf.1,uc002fgj.1,uc002fgh.1 | 114780 | chr16 | 79762320 | 79772435 |  |  | chr16:79799698-79799699_G->A(19:11:57.9%[F:8:42.1%|R:3:15.8%]call=homozygous:genome_phred=52.0:snp_phred=92.0:max_mapping_qual=32.0:genome_max_qual=16.0:genome_ave_qual=6.9:snp_max_qual=63.0:snp_ave_qual=49.5:mismatch_id=3657658:NM_001076780:early-termination:NP_001070248:coding-nonsynonymous:NP_443124:PKD1L2:NM_052892:homozygous:uc002fgh.1:abnormal-ref-gene-model-lacking-stop-codon:chr16:uc002fgj.1:is_dbSNP=rs7499011) | chr16:79703307-79703308_C->G(15:12:80.0%[F:10:66.7%|R:2:13.3%]call=homozygous:genome_phred=73.0:snp_phred=95.0:max_mapping_qual=46.0:genome_max_qual=11.0:genome_ave_qual=6.7:snp_max_qual=63.0:snp_ave_qual=48.1:mismatch_id=3656388:uc002fgf.1:coding-nonsynonymous:NP_443124:Q7Z442-5:PKD1L2:AK131378:NM_052892:homozygous:uc002fgh.1:abnormal-ref-gene-model-lacking-stop-codon:stop-codon-loss:chr16:is_dbSNP=rs8054182)
[NAME] | uc003hiy.1,uc003hiz.1 | 5470 | chr4 | 77006365 | 77036560 |  |  | chr4:77006696-77006697_T->C(31:28:90.3%[F:9:29.0%|R:19:61.3%]call=homozygous:genome_phred=96.0:snp_phred=143.0:max_mapping_qual=50.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=51.4:mismatch_id=907284:uc003hiz.1:AF023457:homozygous:intron-splice-site-mutation:[NAME]:chr4:is_dbSNP=rs7654738)
KIAA1515 | uc001poi.1 | 57646 | chr11 | 113173806 | 113251466 |  |  | chr11:113179133-113179134_INS:-->C(15:12:80.0%[F:7:46.7%|R:5:33.3%]call=homozygous:genome_phred=83.0:snp_phred=479.0:max_mapping_qual=40.0:mismatch_id=8064156:uc001pog.1:early-termination:chr11:Q96SV4:not_dbSNP:AK097623:uc001poi.1:Q96RU2:USP28:NM_020886:NP_065937:AB040948:uc001poh.1:KIAA1515:homozygous:frameshift)
ACTN3 | uc001oio.1 | 89 | chr11 | 66070966 | 66087373 |  |  | chr11:66084670-66084671_T->C(9:7:77.8%[F:2:22.2%|R:5:55.6%]call=homozygous:genome_phred=64.0:snp_phred=80.0:max_mapping_qual=41.0:genome_max_qual=14.0:genome_ave_qual=7.5:snp_max_qual=63.0:snp_ave_qual=50.6:mismatch_id=2620756:NM_001104:utr-mutation:chr11:homozygous:abnormal-ref-gene-model-lacking-stop-codon:NP_001095:uc001oio.1:stop-codon-loss:ACTN3:coding-nonsynonymous:intron-splice-site-mutation:is_dbSNP=[NAME])
GDPD2 | uc004dyh.1 | 54857 | chrX | 69559715 | 69569956 | GO:0005737,GO:0005856,GO:0005886,GO:0006071,GO:0008889,GO:0016020,GO:0016021,GO:0016787 | cytoplasm,cytoskeleton,plasma membrane,glycerol metabolic process,glycerophosphodiester phosphodiesterase activity,membrane,integral to membrane,hydrolase activity | chrX:69569486-69569487_A->G(6:6:100.0%[F:1:16.7%|R:5:83.3%]call=homozygous:genome_phred=77.0:snp_phred=77.0:max_mapping_qual=51.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=49.8:mismatch_id=4025192:NP_060181:chrX:uc004dyh.1:homozygous:Q9HCC8:coding-synonymous:intron-splice-site-mutation:GDPD2:is_dbSNP=rs2296542:NM_017711)
CREB3L2 | uc003vty.2,uc003vtx.1,uc003vtw.1,uc003vtv.1 | 64764 | chr7 | 137248098 | 137337386 |  |  | chr7:137263453-137263456_DEL:TGG->---(13:9:69.2%[F:3:23.1%|R:6:46.2%]call=homozygous:genome_phred=71.0:snp_phred=371.0:max_mapping_qual=45.0:mismatch_id=4157584:uc003vtw.1:uc003vty.2:not_dbSNP:BX649143:NP_919047:NM_194071:AK131517:Q70SY1-3:Q70SY1-2:chr7:homozygous:A8KAI3:CREB3L2:uc003vtx.1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:BC063666:uc003vtv.1)
FLJ00234 | uc002hbg.1 | 113235 | chr17 | 23745787 | 23757355 |  |  | chr17:23751848-23751849_DEL:A->-(11:11:100.0%[F:4:36.4%|R:7:63.6%]call=homozygous:genome_phred=71.0:snp_phred=399.0:max_mapping_qual=46.0:mismatch_id=8328450:uc002hbe.1:FLJ00234:utr-mutation:early-termination:Q6SZW1-2:AK093615:uc002hbg.1:intron-splice-site-mutation:NM_015077:SARM1:NM_080669:BC010691:NP_055892:homozygous:abnormal-ref-gene-model-lacking-stop-codon:chr17:NP_542400:frameshift:stop-codon-loss:uc002hbf.1:SLC46A1:is_dbSNP=rs5819844:uc010crl.1)
IRGQ | uc010eiv.1,uc010eiw.1 | 126298 | chr19 | 48787865 | 48791516 | GO:0005515 | protein binding | chr19:48790802-48790803_C->G(6:5:83.3%[F:3:50.0%|R:2:33.3%]call=homozygous:genome_phred=62.0:snp_phred=74.0:max_mapping_qual=36.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=51.0:mismatch_id=3839771:CCDS33040:NP_001007562:uc010eiv.1:uc010eiw.1:homozygous:coding-synonymous:IRGQ:chr19:Q8WZA9:intron-splice-site-mutation:NM_001007561:is_dbSNP=rs304725)
LIN37 | uc002obk.1,uc002obm.1 | 55851,55957 | chr19 | 40931351 | 40937260 |  |  | chr19:40935652-40935653_G->A(7:7:100.0%[F:3:42.9%|R:4:57.1%]call=homozygous:genome_phred=80.0:snp_phred=80.0:max_mapping_qual=35.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=53.0:snp_ave_qual=44.3:mismatch_id=3727698:NM_019104:NP_061977:homozygous:LIN37:chr19:intron-splice-site-mutation:is_dbSNP=rs231243)
OR8G1 | uc001pzx.1 | 219865 | chr11 | 123625632 | 123640973 |  |  | chr11:123626408-123626409_G->C(9:9:100.0%[F:5:55.6%|R:4:44.4%]call=homozygous:genome_phred=86.0:snp_phred=86.0:max_mapping_qual=52.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=48.8:mismatch_id=3162000:chr11:homozygous:abnormal-ref-gene-model-lacking-stop-codon:NP_001002905:stop-codon-loss:coding-nonsynonymous:uc001pzx.1:intron-splice-site-mutation:OR8G1:NM_001002905:is_dbSNP=rs4268525)
MACF1 | uc009vvo.1,uc001cdh.2,uc001cdf.1,uc001cda.1,uc009vvs.1,uc001cde.1,uc009vvp.1,uc009vvr.1,uc001cdc.1 | 23499 | chr1 | 39569396 | 39725376 |  |  | chr1:39686949-39686950_G->C(30:23:76.7%[F:12:40.0%|R:11:36.7%]call=homozygous:genome_phred=70.0:snp_phred=128.0:max_mapping_qual=45.0:genome_max_qual=26.0:genome_ave_qual=10.1:snp_max_qual=63.0:snp_ave_qual=53.9:[NAME]:Q9UPN3:NP_149033:utr-mutation:NM_033044:uc009vvp.1:uc009vvo.1:uc009vvr.1:coding-nonsynonymous:NM_012090:MACF1:CCDS435:uc009vvs.1:NP_036222:homozygous:abnormal-ref-gene-model-lacking-stop-codon:CCDS436:stop-codon-loss:B1ALC5:chr1:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs668556)
DCHS2 | uc003inx.1,uc003inw.1 | 54798 | chr4 | 155463255 | 155632318 |  |  | chr4:155463851-155463855_DEL:TTTG->----(26:10:38.5%[F:6:23.1%|R:4:15.4%]call=homozygous:genome_phred=110.0:snp_phred=399.0:max_mapping_qual=50.0:mismatch_id=4780392:uc003inx.1:DCHS2:[NAME]:homozygous:not_dbSNP:NP_001136024:frameshift:Q6V1P9-3:NM_001142552:chr4)
DOCK5 | uc003xej.1,uc003xef.2,uc003xei.1,uc003xeg.1,uc010luf.1 | 80005 | chr8 | 25238796 | 25326536 |  |  | chr8:25238885-25238886_C->T(23:22:95.7%[F:11:47.8%|R:11:47.8%]call=homozygous:genome_phred=110.0:snp_phred=125.0:max_mapping_qual=46.0:genome_max_qual=16.0:genome_ave_qual=16.0:snp_max_qual=63.0:snp_ave_qual=53.8:mismatch_id=340931:uc003xeh.1:Q5H9P3:early-termination:CR749353:NP_079216:coding-nonsynonymous:DOCK5:uc003xei.1:chr8:DKFZp781J211:uc003xeg.1:CR933718:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:Q68DL4:Q9H7D0:NM_024940:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP[NAME])
RPK118 | uc009xdh.1,uc001hke.1,uc009xdi.1 | 26750 | chr1 | 211301346 | 211311006 |  |  | chr1:211481659-211481660_C->T(34:30:88.2%[F:13:38.2%|R:17:50.0%]call=homozygous:genome_phred=98.0:snp_phred=149.0:max_mapping_qual=46.0:genome_max_qual=12.0:genome_ave_qual=3.8:snp_max_qual=63.0:snp_ave_qual=56.2:mismatch_id=2074104:early-termination:Q96S38:BX647303:NP_001129610:B1APS8:not_dbSNP:uc001hkc.1:RPS6KC1:coding-nonsynonymous:NP_036556:uc001hke.1:homozygous:AK122921:NM_012424:chr1:uc001hkd.1:NM_001136138:RPK118)
LMO7 | uc001vjw.1,uc001vjv.1,uc001vjt.1,uc001vjs.1 | 4008 | chr13 | 75276425 | 75317516 |  |  | chr13:75276459-75276460_T->C(49:40:81.6%[F:20:40.8%|R:20:40.8%]call=homozygous:[NAME]:snp_phred=179.0:max_mapping_qual=45.0:genome_max_qual=27.0:[NAME]:snp_max_qual=63.0:snp_ave_qual=54.0:mismatch_id=2896723:uc001vjv.1:NM_015842:utr-mutation:NP_056667:uc001vjw.1:chr13:LMO7:uc001vjt.1:NM_005358:AX747335:AK055465:coding-nonsynonymous:uc001vjs.1:AB020665:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:stop-codon-loss:NP_005349:B1AL98:Q8WWI1-3:is_dbSNP=rs625033:abnormal-ref-gene-model-lacking-start-codon:Q8WWI1-2)
UNQ9415 | uc001phv.1,uc001phs.2,uc001phu.1,uc009yxf.1,uc001phx.1 | 120329 | chr11 | 104266306 | 104274607 |  |  | chr11:104266309-104266310_T->C(11:10:90.9%[F:6:54.5%|R:4:36.4%]call=homozygous:genome_phred=66.0:snp_phred=89.0:max_mapping_qual=53.0:genome_max_qual=4.0:genome_ave_qual=4.0:snp_max_qual=63.0:snp_ave_qual=47.5:mismatch_id=2983306:UNQ9415:utr-mutation:chr11:uc001phv.1:NR_000035:AF464193:uc001phu.1:AF486845:AF464194:coding-nonsynonymous:intron-splice-site-mutation:uc001pht.1:AF486844:uc001phw.1:uc009yxf.1:CASP12:homozygous:abnormal-ref-gene-model-lacking-stop-codon:Q6UXS9-2:Q6UXS9-3:is_dbSNP=rs513131) | chr11:104268326-104268327_G->A(10:10:100.0%[F:8:80.0%|R:2:20.0%]call=homozygous:genome_phred=89.0:snp_phred=89.0:max_mapping_qual=50.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=59.1:mismatch_id=2983328:UNQ9415:early-termination:chr11:uc001phv.1:NR_000035:AF464193:uc001phu.1:AF486845:AF464194:coding-nonsynonymous:uc001pht.1:AF486844:uc001phw.1:uc009yxf.1:homozygous:CASP12:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:Q6UXS9-2:Q6UXS9-3:is_dbSNP=rs497116)
CHMP4A | uc001wnj.1,uc001wni.1 | 29082 | chr14 | 23748626 | 23755081 | [NAME] | protein binding,transport,lipid binding,protein transport,membrane,cytoplasmic vesicle membrane,cytoplasmic vesicle | chr14:23753106-23753107_DEL:A->-(11:6:54.5%[F:2:18.2%|R:4:36.4%]call=homozygous:genome_phred=69.0:snp_phred=224.0:max_mapping_qual=50.0:[NAME]:BC046912:utr-mutation:CHMP4A:uc001wnm.1:Q86V88:MDP1:uc001wnl.1:homozygous:uc001wnj.1:uc001wni.1:is_dbSNP=rs3215610:NP_054888:uc001wnk.1:NP_612485:Q86V88-3:Q86V88-2:MDP-1:AX747749:NM_014169:Q9BY43:chr14:NM_138476:frameshift:BX161512:stop-codon-loss)
ADAM8 | uc001lme.1,uc009ybj.1,uc009ybi.1 | 101 | chr10 | 134935686 | 134940362 |  |  | chr10:134926669-134926670_INS:-->C(10:8:80.0%[F:1:10.0%|R:7:70.0%]call=homozygous:genome_phred=68.0:snp_phred=267.0:max_mapping_qual=42.0:mismatch_id=8808915:utr-mutation:early-termination:chr10:BC064500:not_dbSNP:uc001lme.1:NP_001100:homozygous:uc009ybi.1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:ADAM8:NM_001109)
TAS2R43 | uc001qzq.1 | 259289 | chr12 | 11135152 | 11136179 | GO:0004871,GO:0004872,GO:0004930,GO:0007165,GO:0007186,GO:0016020,GO:0016021,GO:0050896,GO:0050909 | signal transducer activity,receptor activity,G-protein coupled receptor activity,signal transduction,G-protein coupled receptor protein signaling pathway,membrane,integral to membrane,response to stimulus,sensory perception of taste | chr12:11135195-11135196_C->T(9:8:88.9%[F:4:44.4%|R:4:44.4%]call=homozygous:genome_phred=57.0:snp_phred=83.0:max_mapping_qual=35.0:genome_max_qual=29.0:genome_ave_qual=29.0:snp_max_qual=63.0:snp_ave_qual=53.6:mismatch_id=2222595:Q50KJ2:early-termination:NP_795365:chr12:uc001qzq.1:homozygous:not_dbSNP:TAS2R43:coding-nonsynonymous:NM_176884)
UBXN8 | uc003xii.1,uc010lvi.1,uc003xij.1 | 7993 | chr8 | 30728454 | 30744062 |  |  | chr8:30740382-30740383_INS:-->T(39:29:74.4%[F:12:30.8%|R:17:43.6%]call=homozygous:genome_phred=155.0:snp_phred=1245.0:[NAME]:mismatch_id=975637:early-termination:AY302140:coding-nonsynonymous:uc010lvi.1:intron-splice-site-mutation:NM_005671:chr8:NP_005662:homozygous:abnormal-ref-gene-model-lacking-stop-codon:UBXN8:frameshift:stop-codon-loss:uc003xii.1:is_dbSNP=rs11388922)
CDRT4 | uc002gop.1 | 284040 | chr17 | 15280062 | 15311650 | GO:0003677,GO:0003899,GO:0006350 | DNA binding,DNA-directed RNA polymerase activity,transcription | chr17:15284249-15284250_INS:---->CTT(32:23:71.9%[F:14:43.8%|R:9:28.1%]call=homozygous:genome_phred=120.0:snp_phred=1065.0:max_mapping_qual=38.0:mismatch_id=8112512:NP_775893:NM_173622:uc002gop.1:homozygous:not_dbSNP:frameshift:chr17:A8MSL9:CDRT4)
PTEN | uc001kfb.1 | 5728 | chr10 | 89613174 | 89718512 | GO:0000079,GO:0001525,GO:0004438,GO:0004721,GO:0004722,GO:0004725,GO:0005161,GO:0005515,GO:0005737,GO:0006470,GO:0006629,GO:0006917,GO:0007049,GO:0007417,GO:0007507,GO:0008138,GO:0008283,GO:0008285,GO:0008289,GO:0016314,GO:0016477,GO:0016787,GO:0030165,GO:0030336,GO:0031175,GO:0031647,GO:0043066,GO:0043542,GO:0045786,GO:0046855,GO:0046856,GO:0048008,GO:0048738,GO:0051717,GO:0051800,GO:0051895,GO:0051898 | regulation of cyclin-dependent protein kinase activity,angiogenesis,phosphatidylinositol-3-phosphatase activity,phosphoprotein phosphatase activity,protein serine/threonine phosphatase activity,protein tyrosine phosphatase activity,platelet-derived growth factor receptor binding,protein binding,cytoplasm,protein amino acid dephosphorylation,lipid metabolic process,induction of apoptosis,cell cycle,central nervous system development,heart development,protein tyrosine/serine/threonine phosphatase activity,cell proliferation,negative regulation of cell proliferation,lipid binding,4,phosphatidylinositol-3,5-trisphosphate 3-phosphatase activity,cell migration,hydrolase activity,PDZ domain binding,negative regulation of cell migration,neurite development,regulation of protein stability,negative regulation of apoptosis,endothelial cell migration,negative regulation of cell cycle,inositol phosphate dephosphorylation,phosphoinositide dephosphorylation,platelet-derived growth factor receptor signaling pathway,cardiac muscle development,4,3 | chr10:89675294-89675295_G->T(23:22:95.7%[F:17:73.9%|R:5:21.7%]call=homozygous:genome_phred=95.0:snp_phred=125.0:max_mapping_qual=44.0:genome_max_qual=2.0:genome_ave_qual=2.0:snp_max_qual=63.0:[NAME]:mismatch_id=2816197:uc001kfb.1:chr10:NM_000314:homozygous:not_dbSNP:P60484:NP_000305:intron-splice-site-mutation:PTEN)
TOR1AIP1 | uc001gnp.1,uc001gnq.1 | 26092 | chr1 | 178118042 | 178155834 | GO:0005634,GO:0005637,GO:0016020,GO:0016021 | nucleus,nuclear inner membrane,membrane,integral to membrane | chr1:178125066-178125067_G->A(21:18:85.7%[F:9:42.9%|R:9:42.9%]call=homozygous:genome_phred=81.0:snp_phred=113.0:max_mapping_qual=52.0:genome_max_qual=27.0:genome_ave_qual=9.7:snp_max_qual=63.0:snp_ave_qual=46.5:mismatch_id=1701480:NP_056417:NM_015602:homozygous:TOR1AIP1:AK001780:chr1:uc001gnp.1:intron-splice-site-mutation:is_dbSNP=rs2245425)
[NAME] | uc001hov.2,uc001hou.2,uc001hot.2 | 127602 | chr1 | 223183985 | 223222249 |  |  | chr1:223447184-223447188_DEL:AAAG->----(31:28:90.3%[F:14:45.2%|R:14:45.2%]call=homozygous:genome_phred=131.0:snp_phred=1079.0:max_mapping_qual=41.0:mismatch_id=5738391:early-termination:DNAH14:NP_001364:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NM_001373:chr1:abnormal-ref-gene-model-lacking-start-codon)
OR13C2 | uc004bce.1 | 392376 | chr9 | 106406772 | 106407729 | GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004984,GO:0005886,GO:0007165,GO:0007186,GO:0007608,GO:0016020,GO:0016021,GO:0050896 | rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,olfactory receptor activity,plasma membrane,signal transduction,G-protein coupled receptor protein signaling pathway,sensory perception of smell,membrane,integral to membrane,response to stimulus | chr9:106407213-106407217_DEL:GTTA->----(10:6:60.0%[F:4:40.0%|R:2:20.0%]call=homozygous:genome_phred=52.0:snp_phred=147.0:max_mapping_qual=42.0:[NAME]:early-termination:OR13C2:NP_001004481:uc004bce.1:chr9:Q8NGS9:homozygous:not_dbSNP:frameshift:NM_001004481)
MOBKL2C | uc001cqe.2,uc001cqf.2 | 148932 | chr1 | 46845973 | 46855150 | GO:0005515,GO:0008270,GO:0046872 | [NAME],zinc ion binding,metal ion binding | chr1:46853265-46853266_G->A(20:18:90.0%[F:13:65.0%|R:5:25.0%]call=homozygous:genome_phred=85.0:snp_phred=113.0:max_mapping_qual=32.0:genome_max_qual=7.0:genome_ave_qual=4.0:snp_max_qual=63.0:snp_ave_qual=48.6:mismatch_id=529975:utr-mutation:Q70IA8:early-termination:NP_958805:homozygous:NM_145279:chr1:coding-nonsynonymous:MOBKL2C:NP_660322:is_dbSNP=rs6671527:uc001cqe.2)
FAM13C | uc001jko.1,uc001jkn.1,uc001jkp.2 | 220965 | chr10 | 60683484 | 60782240 |  |  | chr10:60792274-60792275_INS:--->TA(15:11:73.3%[F:7:46.7%|R:4:26.7%]call=homozygous:genome_phred=61.0:snp_phred=457.0:max_mapping_qual=42.0:mismatch_id=6508004:utr-mutation:early-termination:chr10:uc001jko.1:NP_001001971:FAM13C:Q6P2M3:homozygous:NM_198215:frameshift:uc001jkn.1:NP_937858:NM_001001971:Q5T631:is_dbSNP=rs3078330)
ZNF193 | uc003nkq.1,uc003nkr.1,uc010jqz.1 | 7746 | chr6 | 28301051 | 28309239 | GO:0003676,GO:0003677,GO:0003700,GO:0005622,GO:0005634,GO:0006350,GO:0006355,GO:0008270,GO:0046872 | nucleic acid binding,DNA binding,transcription factor activity,intracellular,nucleus,transcription,regulation of transcription, DNA-dependent,zinc ion binding | chr6:28306100-28306101_C->T(7:6:85.7%[F:2:28.6%|R:4:57.1%]call=homozygous:genome_phred=63.0:snp_phred=77.0:max_mapping_qual=49.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=50.7:mismatch_id=324179:ZNF193:chr6:early-termination:AK226035:NP_006290:homozygous:not_dbSNP:uc010jqz.1:coding-nonsynonymous:Q2TTR1:NM_006299)
ITSN1 | uc002ysy.1,uc002ysw.1,uc010gmg.1,uc002ytc.1,uc010gmk.1,uc002ysz.1,uc002ytj.2,uc010gmi.1,uc002ytb.1,uc002ysx.1,uc002yte.1,uc002yta.1 | 6453 | chr21 | 34012971 | 34183479 | GO:0005089,GO:0005509,GO:0005622,GO:0035023 | Rho guanyl-nucleotide exchange factor activity,calcium ion binding,intracellular,regulation of Rho protein signal transduction | chr21:34159477-34159478_T->C(9:8:88.9%[F:5:55.6%|R:3:33.3%]call=homozygous:genome_phred=68.0:snp_phred=83.0:max_mapping_qual=46.0:genome_max_qual=5.0:genome_ave_qual=5.0:snp_max_qual=63.0:snp_ave_qual=42.6:mismatch_id=3729873:utr-mutation:NM_003024:NP_003015:chr21:EU120734:uc002yta.1:Q15811:ITSN1:coding-nonsynonymous:BC116185:A8CTX8:NP_001001132:uc002ytb.1:homozygous:uc002ytj.2:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:NM_001001132:stop-codon-loss:A8CTY3:is_dbSNP=rs9976801:abnormal-ref-gene-model-lacking-start-codon)
ODF2 | uc004bvh.1,uc004bvf.1,uc004bvb.1,uc010myb.1,uc010myc.1,uc004bva.1,uc004bvc.1,uc004bvd.2,uc004bve.1 | 4957 | chr9 | 130258549 | 130287574 |  |  | chr9:130275141-130275142_A->G(7:6:85.7%[F:3:42.9%|R:3:42.9%]call=homozygous:genome_phred=58.0:snp_phred=77.0:max_mapping_qual=44.0:genome_max_qual=22.0:genome_ave_qual=22.0:snp_max_qual=58.0:snp_ave_qual=47.0:mismatch_id=2814924:Q5BJF6-5:Q5BJF6-6:uc004bvf.1:Q5BJF6-2:Q5BJF6-4:uc004bvc.1:uc004bvd.2:uc004bve.1:Q5T4C2:chr9:[NAME]:Q5BJF6:homozygous:ODF2:uc010myc.1:DQ444713:is_dbSNP=rs17850678,rs4512487:NM_153437:NP_702915:AK093367:uc010myb.1:NM_002540:AY366499:NP_002531:AK308278:BC091500:intron-splice-site-mutation:uc004bvb.1:abnormal-ref-gene-model-lacking-stop-codon:AK309917:coding-synonymous:uc004bva.1)
CTBP2 | uc001lid.2,uc001lif.2,uc001lih.2,uc001lie.2,uc009yak.1,uc009yal.1 | 1488 | chr10 | 126666407 | 126839093 | GO:0003824,GO:0005488,GO:0005634,GO:0008152,GO:0008285,GO:0016491,GO:0016616,GO:0019079,GO:0030054,GO:0045202,GO:0048037,GO:0051287 | catalytic activity,binding,nucleus,metabolic process,negative regulation of cell proliferation,oxidoreductase activity, NAD or NADP as acceptor, NAD or NADP as acceptor, NAD or NADP as acceptor,viral genome replication,cell junction,synapse | chr10:126668081-126668082_G->A(5:4:80.0%[F:1:20.0%|R:3:60.0%]call=homozygous:genome_phred=26.0:snp_phred=70.0:max_mapping_qual=32.0:genome_max_qual=63.0:genome_ave_qual=63.0:snp_max_qual=59.0:snp_ave_qual=48.0:mismatch_id=3245645:early-termination:CTBP2:NM_001329:uc001lid.2:chr10:BC037900:uc009yak.1:not_dbSNP:NP_001077383:NP_073713:coding-nonsynonymous:P56545-2:P56545:[NAME]:uc009yal.1:uc001lih.2:uc001lie.2:homozygous:uc001lif.2:BC052276:AK290390:NP_001320:NM_001083914:NM_022802) | chr10:126668112-126668113_DEL:T->-(10:7:70.0%[F:3:30.0%|R:4:40.0%]call=homozygous:genome_phred=45.0:snp_phred=216.0:max_mapping_qual=38.0:mismatch_id=8545089:NM_001329:CTBP2:chr10:uc001lid.2:BC037900:not_dbSNP:uc009yak.1:NP_001077383:NP_073713:P56545-2:Q5SQP8:P56545:uc009yal.1:uc001lih.2:uc001lie.2:homozygous:uc001lif.2:frameshift:BC052276:stop-codon-loss:AK290390:NP_001320:NM_001083914:NM_022802)
KIAA1161 | uc003zue.2 | 57462 | chr9 | 34358906 | 34366894 |  |  | chr9:34362872-34362873_C->G(11:10:90.9%[F:4:36.4%|R:6:54.5%]call=homozygous:genome_phred=66.0:snp_phred=89.0:max_mapping_qual=38.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=61.0:snp_ave_qual=47.2:mismatch_id=2014863:utr-mutation:KIAA1161:chr9:NP_065753:homozygous:abnormal-ref-gene-model-lacking-stop-codon:stop-codon-loss:NM_020702:coding-nonsynonymous:uc003zue.2:intron-splice-site-mutation:is_dbSNP=rs4879782)
[NAME] | uc003wia.1,uc003why.1,uc003whz.1 | 26 | chr7 | 150180505 | 150189312 |  |  | chr7:150161128-150161129_T->G(26:18:69.2%[F:5:19.2%|R:13:50.0%]call=homozygous:genome_phred=72.0:snp_phred=113.0:max_mapping_qual=40.0:genome_max_qual=11.0:genome_ave_qual=3.5:snp_max_qual=63.0:snp_ave_qual=51.5:[NAME]:ABP1:P19801:chr7:homozygous:uc003why.1:NP_001082:NM_001091:intron-splice-site-mutation:BX648159:is_dbSNP=rs7789908)
GUCA1C | uc003dxk.1,uc003dxj.1 | 9626 | chr3 | 110109339 | 110155310 |  |  | chr3:110117662-110117663_C->A(22:21:95.5%[F:7:31.8%|R:14:63.6%]call=homozygous:genome_phred=108.0:snp_phred=122.0:[NAME]:genome_max_qual=14.0:genome_ave_qual=14.0:snp_max_qual=63.0:snp_ave_qual=50.3:mismatch_id=1277865:O95843-2:uc003dxk.1:GUCA1C:AF110003:NM_005459:NP_005450:coding-nonsynonymous:intron-splice-site-mutation:O95843:homozygous:uc003dxj.1:chr3:is_dbSNP=rs10933973)
MDP-1 | uc001wnl.1 | 145553 | chr14 | 23752454 | 23755081 | GO:0000287,GO:0004721,GO:0004725,GO:0016787,GO:0046872 | magnesium ion binding,phosphoprotein phosphatase activity,protein tyrosine phosphatase activity,hydrolase activity,metal ion binding | chr14:23753106-23753107_DEL:A->-(11:6:54.5%[F:2:18.2%|R:4:36.4%]call=homozygous:genome_phred=69.0:snp_phred=224.0:max_mapping_qual=50.0:[NAME]:BC046912:utr-mutation:CHMP4A:uc001wnm.1:Q86V88:MDP1:uc001wnl.1:homozygous:uc001wnj.1:uc001wni.1:is_dbSNP=rs3215610:NP_054888:uc001wnk.1:NP_612485:Q86V88-3:Q86V88-2:MDP-1:AX747749:NM_014169:Q9BY43:chr14:NM_138476:frameshift:BX161512:stop-codon-loss)
KIAA1104 | uc001igr.1,uc001igs.1 | 10531 | chr10 | 3169919 | 3177919 |  |  | chr10:3171002-3171003_A->G(22:18:81.8%[F:12:54.5%|R:6:27.3%]call=homozygous:genome_phred=79.0:snp_phred=113.0:max_mapping_qual=38.0:genome_max_qual=9.0:genome_ave_qual=4.0:snp_max_qual=61.0:snp_ave_qual=42.1:mismatch_id=1847285:uc001igr.1:chr10:homozygous:KIAA1104:BX649017:stop-codon-loss:coding-nonsynonymous:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs2279217)
TTN | uc002unb.1,uc002ums.1,uc010frg.1,uc010frc.1,uc002und.2,uc002umw.1,uc002umr.1,uc010frd.1,uc002umz.1,uc010frf.1,uc002umy.1,uc010fre.1,uc002umx.1,uc002una.1 | 7273 | chr2 | 179358819 | 179368224 |  |  | chr2:179170547-179170548_INS:-->G(28:24:85.7%[F:15:53.6%|R:9:32.1%]call=homozygous:genome_phred=107.0:snp_phred=981.0:max_mapping_qual=41.0:mismatch_id=5422054:uc002ums.1:NP_597676:NP_597681:uc002umr.1:not_dbSNP:TTN:intron-splice-site-mutation:NP_003310:NP_596869:NM_133432:uc010frd.1:NM_133378:NM_133437:NM_003319:uc010frc.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:chr2)
DIXDC1 | uc001pmm.1,uc001pmj.2,uc001pml.1,uc001pmk.2 | 85458 | chr11 | 111353242 | 111398517 |  |  | chr11:111358316-111358317_INS:-->C(6:4:66.7%[F:1:16.7%|R:3:50.0%]call=homozygous:genome_phred=56.0:snp_phred=159.0:max_mapping_qual=45.0:mismatch_id=8022956:uc001pmn.1:utr-mutation:DIXDC1:KIAA1735:early-termination:NP_219493:chr11:not_dbSNP:NM_001037954:uc001pmm.1:NP_001033043:uc001pml.1:NM_033425:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:AK055899)
GDPD4 | uc001oyf.1 | 220032 | chr11 | 76605250 | 76676111 |  |  | chr11:76632436-76632437_INS:-->A(8:6:75.0%[F:4:50.0%|R:2:25.0%]call=homozygous:genome_phred=62.0:snp_phred=239.0:max_mapping_qual=33.0:mismatch_id=7166404:early-termination:NM_182833:chr11:uc001oyf.1:homozygous:Q6W3E5-2:NP_878253:frameshift:GDPD4:is_dbSNP=rs34784710)
C17orf63 | uc002hcw.2,uc002hcv.1,uc002hcu.1,uc002hct.1 | 55731 | chr17 | 24108534 | 24193967 |  |  | chr17:24110579-24110580_INS:-->G(9:7:77.8%[F:2:22.2%|R:5:55.6%]call=homozygous:genome_phred=55.0:snp_phred=229.0:max_mapping_qual=40.0:mismatch_id=8337608:NP_060652:C17orf63:BX647766:utr-mutation:early-termination:uc002hcv.1:not_dbSNP:intron-splice-site-mutation:uc002hcw.2:NP_001070966:NM_018182:AK095569:uc002hcu.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:chr17:stop-codon-loss:uc002hct.1:NM_001077498)
URG4 | uc003tiu.1,uc003tiy.1,uc003tiw.1,uc003tiv.1,uc003tiz.1,uc003tix.1 | 55665 | chr7 | 43882025 | 43932521 |  |  | chr7:43885790-43885791_C->T(23:19:82.6%[F:9:39.1%|R:10:43.5%]call=homozygous:genome_phred=80.0:snp_phred=116.0:max_mapping_qual=40.0:genome_max_qual=10.0:genome_ave_qual=4.2:snp_max_qual=63.0:snp_ave_qual=51.8:mismatch_id=573766:Q8TCY9-3:chr7:uc003tiv.1:URG4:homozygous:AB040940:intron-splice-site-mutation:is_dbSNP=rs2730616)
NPHP4 | uc001alr.1,uc001alq.1 | 261734 | chr1 | 5845457 | 5851022 |  |  | chr1:5857748-5857749_A->T(8:8:100.0%[F:5:62.5%|R:3:37.5%]call=homozygous:genome_phred=83.0:snp_phred=83.0:max_mapping_qual=39.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=56.0:mismatch_id=68585:[NAME]:NP_055917:homozygous:NM_015102:O75161:chr1:intron-splice-site-mutation:uc001alq.1:is_dbSNP=rs1287637)
PTCHD3 | uc001itu.1 | 374308 | chr10 | 27727205 | 27743227 | GO:0008158,GO:0016020,GO:0016021 | hedgehog receptor activity,membrane,integral to membrane | chr10:27727230-27727231_A->G(33:31:93.9%[F:9:27.3%|R:22:66.7%]call=homozygous:genome_phred=111.0:snp_phred=152.0:max_mapping_qual=46.0:genome_max_qual=7.0:genome_ave_qual=6.0:snp_max_qual=63.0:snp_ave_qual=54.3:mismatch_id=2155743:NP_001030014:Q3KNS1:chr10:uc001itu.1:homozygous:PTCHD3:stop-codon-loss:coding-nonsynonymous:is_dbSNP=rs2505323:NM_001034842) | chr10:27742262-27742263_INS:-->C(25:17:68.0%[F:11:44.0%|R:6:24.0%]call=homozygous:genome_phred=109.0:snp_phred=715.0:max_mapping_qual=40.0:mismatch_id=5617512:NP_001030014:early-termination:uc001itu.1:Q3KNS1:chr10:homozygous:not_dbSNP:frameshift:PTCHD3:NM_001034842)
VN1R5 | uc001icn.1 | 317705 | chr1 | 245485996 | 245487070 |  |  | chr1:245486131-245486132_T->C(29:28:96.6%[F:13:44.8%|R:15:51.7%]call=homozygous:genome_phred=122.0:snp_phred=143.0:max_mapping_qual=49.0:genome_max_qual=24.0:genome_ave_qual=24.0:snp_max_qual=63.0:snp_ave_qual=47.7:[NAME]:utr-mutation:uc001icn.1:VN1R5:homozygous:abnormal-ref-gene-model-lacking-stop-codon:stop-codon-loss:NP_776257:coding-nonsynonymous:chr1:NM_173858:intron-splice-site-mutation:is_dbSNP=rs1778540)
FLJ37078 | uc003uet.1,uc003uer.2 | 222183 | chr7 | 75749867 | 75754541 |  |  | chr7:75752870-75752871_INS:-->C(9:5:55.6%[F:3:33.3%|R:2:22.2%]call=homozygous:genome_phred=29.0:snp_phred=163.0:max_mapping_qual=43.0:mismatch_id=2148759:early-termination:NP_001103669:not_dbSNP:FLJ37078:uc003uet.1:chr7:NM_001110199:BC096755:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:uc003uer.2:stop-codon-loss)
DKFZp781J211 | uc003xeh.1 | 80005 | chr8 | 25209945 | 25290292 |  |  | chr8:25238885-25238886_C->T(23:22:95.7%[F:11:47.8%|R:11:47.8%]call=homozygous:genome_phred=110.0:snp_phred=125.0:max_mapping_qual=46.0:genome_max_qual=16.0:genome_ave_qual=16.0:snp_max_qual=63.0:snp_ave_qual=53.8:mismatch_id=340931:uc003xeh.1:Q5H9P3:early-termination:CR749353:NP_079216:coding-nonsynonymous:DOCK5:uc003xei.1:chr8:DKFZp781J211:uc003xeg.1:CR933718:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:Q68DL4:Q9H7D0:NM_024940:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP[NAME])
[NAME]T | uc003vyh.2 |  | chr7 | 141768296 | 141768839 |  |  | chr7:141768791-141768792_G->T(27:27:100.0%[F:16:59.3%|R:11:40.7%]call=homozygous:genome_phred=140.0:snp_phred=140.0:max_mapping_qual=51.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=52.1:mismatch_id=1622699:A0A581:early-termination:chr7:uc003vyh.2:TCRBV12S2A1T:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-nonsynonymous:D13084:is_dbSNP=rs17249)
EMID2 | uc010lhy.1,uc003uyo.1 | 136227 | chr7 | 100792841 | 100989024 |  |  | chr7:100987389-100987390_INS:-->G(5:4:80.0%[F:3:60.0%|R:1:20.0%]call=homozygous:genome_phred=53.0:snp_phred=119.0:max_mapping_qual=49.0:mismatch_id=2930633:uc010lhy.1:chr7:NP_597714:NM_133457:AJ416091:homozygous:EMID2:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:uc003uyo.1:is_dbSNP=rs36008849)
DSP | uc003mxp.1,uc003mxq.1 | 1832 | chr6 | 7486868 | 7531945 |  |  | chr6:7487147-7487148_INS:-->A(6:4:66.7%[F:1:16.7%|R:3:50.0%]call=homozygous:genome_phred=43.0:snp_phred=106.0:max_mapping_qual=54.0:mismatch_id=205120:early-termination:P15924:NM_004415:NM_001008844:uc003mxq.1:B2RTT2:chr6:uc003mxp.1:homozygous:NP_004406:DSP:frameshift:start-codon-loss:NP_001008844:is_dbSNP=rs17133512)
[NAME] | uc002kwi.2,uc002kwj.2 | 1825 | chr18 | 26824049 | 26876779 | GO:0005509,GO:0005515,GO:0005624,GO:0005886,GO:0005911,GO:0007155,GO:0007156,GO:0016020,GO:0016021,GO:0030054 | calcium ion binding,protein binding,membrane fraction,plasma membrane,intercellular junction,cell adhesion,homophilic cell adhesion,membrane,integral to membrane,cell junction | chr18:26865136-26865137_A->C(12:11:91.7%[F:3:25.0%|R:8:66.7%]call=homozygous:genome_phred=67.0:snp_phred=92.0:max_mapping_qual=49.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:[NAME]:mismatch_id=3610434:Q14574:Q14574-2:NP_001932:intron-splice-site-mutation:NM_024423:NM_001941:homozygous:[NAME]:NP_077741:uc002kwj.2:chr18:uc002kwi.2:is_dbSNP=rs276936)
[NAME] | uc003mah.1,uc003maf.1,uc010jjl.1,uc010jjm.1 | 1794 | chr5 | 169063530 | 169442959 |  |  | chr5:169063657-169063658_G->A(10:10:100.0%[F:5:50.0%|R:5:50.0%]call=homozygous:genome_phred=89.0:snp_phred=89.0:max_mapping_qual=51.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=59.0:snp_ave_qual=49.2:mismatch_id=1957827:chr5:DOCK2:AK128107:homozygous:intron-splice-site-mutation:is_dbSNP=rs264843:uc010jjm.1)
[NAME] | uc002yep.1 | 57642 | chr20 | 61394982 | 61432729 |  |  | chr20:61427931-61427932_INS:-->C(9:6:66.7%[F:5:55.6%|R:1:11.1%]call=homozygous:genome_phred=65.0:snp_phred=319.0:max_mapping_qual=44.0:mismatch_id=10403153:chr20:early-termination:uc002yer.1:uc002yep.1:not_dbSNP:intron-splice-site-mutation:KIAA1510:homozygous:AL390141:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NP_065933:COL20A1:NM_020882)
MTSS1 | uc003yrk.2,uc003yrh.2,uc003yrl.2,uc003yri.2,uc003yrj.2 | 9788 | chr8 | 125632208 | 125809911 |  |  | chr8:125637363-125637365_DEL:GG->--(8:6:75.0%[F:4:50.0%|R:2:25.0%]call=homozygous:genome_phred=51.0:snp_phred=188.0:max_mapping_qual=39.0:mismatch_id=3837999:[NAME]:MTSS1:early-termination:chr8:homozygous:NM_014751:NP_055566:frameshift:AK126651:uc003yrh.2:is_dbSNP=[NAME])
SPON1 | uc001mle.1 | 10418 | chr11 | 13940489 | 14246231 |  |  | chr11:14058069-14058070_INS:-->C(19:17:89.5%[F:11:57.9%|R:6:31.6%]call=homozygous:genome_phred=83.0:snp_phred=667.0:max_mapping_qual=44.0:mismatch_id=5316203:chr11:uc001mle.1:NM_006108:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:intron-splice-site-mutation:is_dbSNP=rs5789820:NP_006099:SPON1)
DKFZp434O2417 | uc010hse.1,uc003eip.1,uc010hsf.1 | 10840 | chr3 | 127336608 | 127382175 |  |  | chr3:127337001-127337002_DEL:C->-(10:6:60.0%[F:3:30.0%|R:3:30.0%]call=homozygous:genome_phred=68.0:snp_phred=199.0:max_mapping_qual=50.0:mismatch_id=3892186:homozygous:DKFZp434O2417:frameshift:stop-codon-loss:AK307699:chr3:uc010hsf.1:is_dbSNP=rs3216713)
PADI6 | uc001bak.1 | 353238 | chr1 | 17571327 | 17600782 |  |  | chr1:17591258-17591259_DEL:G->-(30:26:86.7%[F:16:53.3%|R:10:33.3%]call=homozygous:genome_phred=128.0:snp_phred=999.0:max_mapping_qual=46.0:mismatch_id=450126:early-termination:PADI6:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:NP_997304:chr1:intron-splice-site-mutation:NM_207421:uc001bak.1)
VEGFC | uc003ius.1 | 7424 | chr4 | 177841684 | 177950889 | [NAME] | angiogenesis,positive regulation of neuroblast proliferation,extracellular region,substrate-bound cell migration,signal transduction,multicellular organismal development,growth factor activity,cell proliferation,positive regulation of cell proliferation,organ morphogenesis,membrane,morphogenesis of embryonic epithelium,cell differentiation,vascular endothelial growth factor receptor 3 binding,vascular endothelial growth factor receptor signaling pathway | chr4:177842075-177842078_DEL:TCA->---(31:25:80.6%[F:10:32.3%|R:15:48.4%]call=homozygous:genome_phred=112.0:snp_phred=1100.0:max_mapping_qual=38.0:mismatch_id=5545742:NP_005420:VEGFC:P49767:uc003ius.1:homozygous:not_dbSNP:frameshift:NM_005429:chr4)
C1orf173 | uc001dgi.2,uc001dgg.1 | 127254 | chr1 | 74827599 | 74873126 |  |  | chr1:74809370-74809371_T->C(27:24:88.9%[F:12:44.4%|R:12:44.4%]call=homozygous:genome_phred=100.0:snp_phred=131.0:max_mapping_qual=44.0:genome_max_qual=17.0:genome_ave_qual=6.7:snp_max_qual=63.0:snp_ave_qual=48.5:mismatch_id=872201:utr-mutation:uc001dgg.1:NP_001002912:NM_001002912:homozygous:C1orf173:Q5RHP9-2:chr1:intron-splice-site-mutation:is_dbSNP=[NAME]) | chr1:74810445-74810448_DEL:CCT->---(16:10:62.5%[F:7:43.8%|R:3:18.8%]call=homozygous:genome_phred=24.0:snp_phred=377.0:max_mapping_qual=44.0:mismatch_id=2130565:uc001dgg.1:NP_001002912:NM_001002912:homozygous:not_dbSNP:C1orf173:frameshift:Q5RHP9-2:chr1:abnormal-ref-gene-model-lacking-start-codon)
FLJ43860 | uc003ywi.2,uc010meu.1 | 389690 | chr8 | 142513110 | 142586512 |  |  | chr8:142574219-142574220_T->C(6:4:66.7%[F:2:33.3%|R:2:33.3%]call=homozygous:genome_phred=60.0:snp_phred=71.0:max_mapping_qual=46.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=61.0:snp_ave_qual=52.0:mismatch_id=1649050:FLJ43860:chr8:NM_207414:homozygous:intron-splice-site-mutation:NP_997297:uc003ywi.2:is_dbSNP=rs6578193)
CD200R1L | uc003dzi.1,uc010hqf.1 | 344807 | chr3 | 114017245 | 114047487 | GO:0004872 | receptor activity | chr3:114028600-114028601_DEL:T->-(25:16:64.0%[F:8:32.0%|R:8:32.0%]call=homozygous:genome_phred=107.0:snp_phred=833.0:max_mapping_qual=51.0:mismatch_id=3481852:AY284976:early-termination:uc003dzi.1:NM_001008784:A8MRR5:uc010hqf.1:Q6WHB7:NP_001008784:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:CD200R1L:chr3:is_dbSNP=rs58161637)
PLCD3 | uc002iib.1 | 113026 | chr17 | 40544533 | 40565417 |  |  | chr17:40548075-40548076_INS:-->C(8:8:100.0%[F:6:75.0%|R:2:25.0%]call=homozygous:genome_phred=62.0:snp_phred=279.0:max_mapping_qual=37.0:mismatch_id=8780615:early-termination:NP_588614:uc002iib.1:homozygous:not_dbSNP:PLCD3:abnormal-ref-gene-model-lacking-stop-codon:NM_133373:frameshift:chr17:stop-codon-loss:intron-splice-site-mutation)
[NAME] | uc001klr.1,uc001klq.1 | 9849 | chr10 | 97879802 | 97913507 |  |  | chr10:97910089-97910090_INS:-->C(30:24:80.0%[F:16:53.3%|R:8:26.7%]call=homozygous:genome_phred=71.0:snp_phred=942.0:max_mapping_qual=45.0:mismatch_id=7657025:utr-mutation:chr10:uc001klo.1:BC109046:not_dbSNP:uc001klr.1:ZNF518A:intron-splice-site-mutation:BC030967:BC011627:uc001klq.1:NM_014803:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:uc001klp.1:NP_055618:[NAME])
WDR46 | uc003rqa.1,uc003shl.1,uc003ods.1 | 9277 | chr6_qbl_hap2 | 4433070 | 4443181 | GO:0003674,GO:0005575,GO:0008150 | molecular_function,cellular_component,biological_process | chr6:33364448-33364449_T->C(11:6:54.5%[F:2:18.2%|R:4:36.4%]call=homozygous:genome_phred=48.0:snp_phred=77.0:max_mapping_qual=50.0:genome_max_qual=26.0:genome_ave_qual=6.4:snp_max_qual=63.0:snp_ave_qual=43.2:mismatch_id=373744:chr6:NM_005452:NP_005443:uc003ods.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:O15213:coding-nonsynonymous:intron-splice-site-mutation:WDR46:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs3130257)
EVC | uc003gim.1,uc003gil.1 | 2121 | chr4 | 5763824 | 5881673 |  |  | chr4:5800861-5800862_G->C(15:13:86.7%[F:5:33.3%|R:8:53.3%]call=homozygous:genome_phred=78.0:snp_phred=98.0:max_mapping_qual=50.0:genome_max_qual=15.0:genome_ave_qual=10.0:snp_max_qual=63.0:snp_ave_qual=52.2:mismatch_id=89443:early-termination:NP_714928:EVC:CR608807:Q96I11:coding-nonsynonymous:P57679:NM_153717:uc003gil.1:CRMP1:homozygous:coding-synonymous:uc003gin.1:is_dbSNP=[NAME]:chr4)
PAX4 | uc003vmg.1,uc003vmf.2,uc010lld.1,uc003vmh.2 | 5078 | chr7 | 127037581 | 127043016 | GO:0003677,GO:0003700,GO:0005634,GO:0006350,GO:0006355,GO:0007275,GO:0043565,GO:0045449 | DNA binding,transcription factor activity,nucleus,transcription,regulation of transcription, DNA-dependent,multicellular organismal development,sequence-specific DNA binding | chr7:127038142-127038143_T->C(16:12:75.0%[F:7:43.8%|R:5:31.2%]call=homozygous:genome_phred=65.0:snp_phred=95.0:max_mapping_qual=42.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=46.6:mismatch_id=1429673:utr-mutation:Q3KNR4:NP_006184:O43316-3:uc010lld.1:PAX4:coding-nonsynonymous:uc003vmg.1:AB008913:BC107150:NM_006193:chr7:uc003vmf.2:A4D0Z1:homozygous:stop-codon-loss:is_dbSNP=rs712700)
KIAA2033 | uc002qbs.2,uc002qbr.1,uc010eqo.1 | 388561 | chr19 | 58640065 | 58653318 |  |  | chr19:58649937-58649938_T->G(19:19:100.0%[F:15:78.9%|R:4:21.1%]call=homozygous:genome_phred=116.0:snp_phred=116.0:max_mapping_qual=56.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=57.2:mismatch_id=3924113:[NAME]:uc010eqo.1:early-termination:NP_001008401:CCDS33101:coding-nonsynonymous:uc010eqp.1:KIAA2033:Q86XN6-3:homozygous:ZNF761:abnormal-ref-gene-model-lacking-stop-codon:chr19:AB107355:uc002qbt.1:is_dbSNP=rs2708743)
OASIS | uc001ncg.1 | 90993 | chr11 | 46293787 | 46299548 |  |  | chr11:46298835-46298836_INS:-->G(18:16:88.9%[F:9:50.0%|R:7:38.9%]call=homozygous:genome_phred=42.0:snp_phred=549.0:max_mapping_qual=41.0:mismatch_id=6401657:NP_443086:chr11:not_dbSNP:intron-splice-site-mutation:NM_052854:uc001ncg.1:AF055009:homozygous:CREB3L1:frameshift:stop-codon-loss:uc001ncf.1:OASIS)
ANKMY1 | uc010fzd.1,uc002vzf.2,uc002vza.1,uc002vyz.1,uc002vzc.1,uc002vzd.1,uc002vzb.1,uc002vze.2,uc010fze.1 | 51281 | chr2 | 241110104 | 241148948 |  |  | chr2:241145442-241145443_C->A(6:6:100.0%[F:3:50.0%|R:3:50.0%]call=homozygous:genome_phred=77.0:snp_phred=77.0:max_mapping_qual=35.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=51.2:mismatch_id=2861589:BC073146:uc002vzc.1:NP_057636:uc002vzd.1:ANKMY1:CR936759:Q4ZFV3:intron-splice-site-mutation:Q6GPI0:uc002vza.1:NP_060314:BC036111:NM_017844:homozygous:Q9P2S6-2:Q9P2S6-3:NM_016552:AK314534:uc002vzb.1:chr2:uc010fzd.1:is_dbSNP=rs62621191)
TLR8 | uc004cvd.1,uc004cve.1 | 51311 | chrX | 12834678 | 12851209 | GO:0003677,GO:0003723,GO:0003725,GO:0003727,GO:0004872,GO:0004888,GO:0005121,GO:0005515,GO:0006954,GO:0006955,GO:0007165,GO:0007249,GO:0009597,GO:0016020,GO:0016021,GO:0016064,GO:0031224,GO:0045078,GO:0045087,GO:0045089,GO:0045356,GO:0045359,GO:0045416,GO:0051607 | DNA binding,RNA binding,double-stranded RNA binding,single-stranded RNA binding,receptor activity,transmembrane receptor activity,Toll binding,protein binding,inflammatory response,immune response,signal transduction,I-kappaB kinase/NF-kappaB cascade,detection of virus,membrane,integral to membrane,immunoglobulin mediated immune response,intrinsic to membrane,positive regulation of interferon-gamma biosynthetic process,innate immune response,positive regulation of innate immune response,positive regulation of interferon-alpha biosynthetic process,positive regulation of interferon-beta biosynthetic process,positive regulation of interleukin-8 biosynthetic process,defense response to virus | chrX:12834746-12834747_A->G(9:8:88.9%[F:6:66.7%|R:2:22.2%]call=homozygous:genome_phred=64.0:snp_phred=83.0:max_mapping_qual=49.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=51.2:mismatch_id=3673817:utr-mutation:Q495P7:uc004cve.1:AF246971:NP_619542:coding-nonsynonymous:Q9NR97:TLR8:NM_138636:uc004cvd.1:chrX:homozygous:start-codon-loss:is_dbSNP=rs3764880)
CLDN5 | uc010grr.1,uc002zpu.1 | 7122 | chr22 | 17891121 | 17891778 | [NAME] | structural molecule activity,protein binding,tight junction,membrane,integral to membrane,calcium-independent cell-cell adhesion,cell junction,identical protein binding | chr22:17891924-17891925_G->A(5:5:100.0%[F:1:20.0%|R:4:80.0%]call=homozygous:genome_phred=74.0:snp_phred=74.0:max_mapping_qual=37.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=50.4:mismatch_id=3535438:uc002zpu.1:utr-mutation:O00501:early-termination:NP_001124333:CLDN5:chr22:NM_001130861:coding-nonsynonymous:NM_003277:NP_003268:homozygous:is_dbSNP=rs885985)
MLL4 | uc010eei.1 | 9757 | chr19 | 40900760 | 40921619 |  |  | chr19:40906472-40906473_INS:-->G(4:4:100.0%[F:2:50.0%|R:2:50.0%]call=homozygous:genome_phred=50.0:snp_phred=119.0:max_mapping_qual=47.0:[NAME]:NP_055542:early-termination:homozygous:not_dbSNP:NM_014727:frameshift:uc010eei.1:chr19:intron-splice-site-mutation:MLL4)
OVCH2 | uc001mfo.1 | 341277 | chr11 | 7669019 | 7684517 | GO:0003824,GO:0004252,GO:0005509,GO:0005576,GO:0006508,GO:0008233,GO:0016787,GO:0046872 | catalytic activity,serine-type endopeptidase activity,calcium ion binding,extracellular region,proteolysis,peptidase activity,hydrolase activity,metal ion binding | chr11:7673794-7673795_A->T(9:9:100.0%[F:4:44.4%|R:5:55.6%]call=homozygous:genome_phred=86.0:snp_phred=86.0:max_mapping_qual=53.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=59.3:mismatch_id=1935580:chr11:OVCH2:NM_198185:homozygous:Q7RTZ1:not_dbSNP:NP_937828:uc001mfo.1:coding-nonsynonymous:intron-splice-site-mutation)
METTL8 | uc002ugv.2,uc002ugu.2,uc002ugs.2,uc002ugt.2,uc010fqe.1,uc010fqd.1 | 79828 | chr2 | 171890596 | 171925269 |  |  | chr2:171889016-171889017_A->G(8:6:75.0%[F:4:50.0%|R:2:25.0%]call=homozygous:genome_phred=61.0:snp_phred=77.0:max_mapping_qual=41.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=51.8:[NAME]:Q9H825-2:utr-mutation:METTL8:uc002ugs.2:CR612022:BC025250:uc002ugv.2:coding-nonsynonymous:uc002ugu.2:uc002ugt.2:AK124092:NM_024770:Q9H825:homozygous:uc010fqd.1:abnormal-ref-gene-model-lacking-stop-codon:NP_079046:AK024046:stop-codon-loss:chr2:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs10205459)
CPNE1 | uc002xdg.1,uc002xdc.1,uc002xdi.1,uc002xdd.1,uc002xdh.1,uc002xdk.1,uc002xdj.1,uc010gfk.1,uc002xdf.1,uc002xdl.1,uc002xdm.1,uc010gfi.1,uc002xde.1 | 8904 | chr20 | 33681856 | 33716262 |  |  | chr20:33678136-33678137_T->C(13:8:61.5%[F:2:15.4%|R:6:46.2%]call=homozygous:genome_phred=24.0:snp_phred=83.0:max_mapping_qual=44.0:genome_max_qual=47.0:genome_ave_qual=14.0:snp_max_qual=52.0:snp_ave_qual=41.9:mismatch_id=3801998:utr-mutation:chr20:uc002xdk.1:uc002xdj.1:NP_690902:uc002xde.1:NM_152925:NP_690905:NM_152926:NP_690906:NP_690903:NP_690904:CR618133:A6PVH9:NP_003906:NM_152929:NP_690908:NM_152928:uc002xdl.1:NM_152927:NP_690907:CR606579:homozygous:AB209827:is_dbSNP=rs2425068:Q99829:uc002xdi.1:Q59EI4:uc002xdm.1:NM_152931:NM_152930:uc002xdh.1:coding-nonsynonymous:intron-splice-site-mutation:uc002xdf.1:NM_003915:CPNE1:abnormal-ref-gene-model-lacking-stop-codon:uc002xdd.1:coding-synonymous:uc002xdc.1:uc002xdg.1:abnormal-ref-gene-model-lacking-start-codon)
[NAME] | uc010gql.1,uc002zjl.1,uc002zjr.2,uc002zjo.1,uc002zjn.1,uc002zjm.1,uc002zjp.1 | 23181 | chr21 | 46703317 | 46813028 | GO:0003824,GO:0005634,GO:0007275,GO:0008134,GO:0008152 | catalytic activity,nucleus,multicellular organismal development,transcription factor binding,metabolic process | chr21:46802749-46802750_INS:-->C(14:10:71.4%[F:7:50.0%|R:3:21.4%]call=homozygous:genome_phred=79.0:snp_phred=394.0:max_mapping_qual=42.0:mismatch_id=9980772:DIP2A:chr21:AK124731:homozygous:not_dbSNP:frameshift:stop-codon-loss:uc002zjr.2:A8MPY9)
MMP8 | uc001phe.2 | 4317 | chr11 | 102087735 | 102100895 | GO:0003824,GO:0004222,GO:0004232,GO:0005509,GO:0005576,GO:0005578,GO:0005615,GO:0006508,GO:0008130,GO:0008152,GO:0008233,GO:0008237,GO:0008270,GO:0016787,GO:0030574,GO:0046872 | catalytic activity,metalloendopeptidase activity,interstitial collagenase activity,calcium ion binding,extracellular region,proteinaceous extracellular matrix,extracellular space,proteolysis,neutrophil collagenase activity,metabolic process,peptidase activity,metallopeptidase activity,zinc ion binding,hydrolase activity,collagen catabolic process,metal ion binding | chr11:102089344-102089345_G->A(8:8:100.0%[F:6:75.0%|R:2:25.0%]call=homozygous:genome_phred=83.0:snp_phred=83.0:max_mapping_qual=51.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=52.8:mismatch_id=2961510:early-termination:NP_002415:P22894:chr11:uc001phe.2:MMP8:homozygous:NM_002424:coding-nonsynonymous:is_dbSNP=rs35231465)
EPS8L3 | uc001dyq.1,uc009wfm.1,uc001dys.1,uc009wfo.1,uc001dyr.1 | 79574 | chr1 | 110096830 | 110108087 |  |  | [NAME]=homozygous:genome_phred=46.0:snp_phred=89.0:max_mapping_qual=41.0:genome_max_qual=36.0:genome_ave_qual=25.5:snp_max_qual=63.0:snp_ave_qual=53.2:mismatch_id=1241026:EPS8R3:NP_620641:AK310979:Q8TE67-2:NM_133181:uc001dyr.1:Q8TE67-3:coding-nonsynonymous:NP_573444:AK307932:uc001dys.1:uc001dyq.1:homozygous:uc009wfm.1:start-codon-loss:EPS8L3:NM_024526:chr1:uc009wfn.1:NM_139053:is_dbSNP=rs17598321:Q8TE67:NP_078802:abnormal-ref-gene-model-lacking-start-codon)
AK5 | [NAME] | 26289 | chr1 | 77520874 | 77798242 | GO:0004017,GO:0005524,GO:0005737,GO:0006139,GO:0016301,GO:0016740,GO:0019201,GO:0019205,GO:0046034 | adenylate kinase activity,ATP binding,cytoplasm, nucleotide and nucleic acid metabolic process, nucleotide and nucleic acid metabolic process, nucleotide and nucleic acid metabolic process,kinase activity,transferase activity,nucleotide kinase activity | chr1:77796933-77796934_INS:---->TAT(30:18:60.0%[F:7:23.3%|R:11:36.7%]call=homozygous:genome_phred=98.0:snp_phred=893.0:max_mapping_qual=45.0:mismatch_id=2224044:NP_777283:NM_174858:NP_036225:[NAME]:homozygous:not_dbSNP:uc001dhn.1:AK5:frameshift:chr1:uc001dho.1:NM_012093)
GPATCH4 | uc001fpm.1,uc001fpl.1 | 54865 | chr1 | 154830902 | 154837894 | [NAME] | nucleic acid binding,intracellular | chr1:154831673-154831674_INS:--->AC(30:24:80.0%[F:17:56.7%|R:7:23.3%]call=homozygous:genome_phred=83.0:snp_phred=985.0:max_mapping_qual=45.0:mismatch_id=3833485:uc001fpm.1:early-termination:not_dbSNP:A8MRS9:uc001fpl.1:intron-splice-site-mutation:NP_056405:NM_182679:homozygous:frameshift:GPATCH4:stop-codon-loss:NP_872620:NM_015590:chr1)
FAM129C | uc002ngy.2,uc010eau.1,uc010eav.1,uc010eaw.1 | 199786 | chr19 | 17510958 | 17523835 |  |  | chr19:17509349-17509350_T->C(10:10:100.0%[F:5:50.0%|R:5:50.0%]call=homozygous:genome_phred=89.0:snp_phred=89.0:max_mapping_qual=42.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=52.4:mismatch_id=3533385:Q86XR2-3:NP_775815:coding-nonsynonymous:intron-splice-site-mutation:NM_001098524:NM_173544:uc010eav.1:homozygous:FAM129C:chr19:Q86XR2:NP_001091994:is_dbSNP=rs8107859:uc010eau.1)
BC044232 | uc002fql.2 |  | chr16 | 88633671 | 88641534 |  |  | chr16:88638450-88638451_C->T(13:11:84.6%[F:4:30.8%|R:7:53.8%]call=homozygous:genome_phred=66.0:snp_phred=92.0:[NAME]:genome_max_qual=2.0:genome_ave_qual=1.5:snp_max_qual=63.0:snp_ave_qual=56.3:mismatch_id=3764116:O95995:utr-mutation:early-termination:BC089450:BC044232:coding-nonsynonymous:GAS8:BX647947:uc002fqi.1:uc010cjc.1:uc010cjd.1:uc002fqh.1:NR_023348:BC036781:NM_001481:homozygous:[NAME]:GAS11:NP_001472:uc002fql.2:chr16:is_dbSNP=rs1048149:uc002fqj.1)
TIGD6 | uc010jhb.1,uc003lri.1,uc003lrj.1 | 81789 | chr5 | 149354538 | 149356104 | GO:0000775,GO:0003676,GO:0003677,GO:0005634,GO:0045449 | pericentric region, pericentric region,nucleic acid binding,DNA binding,nucleus | chr5:149355072-149355073_DEL:T->-(24:22:91.7%[F:14:58.3%|R:8:33.3%]call=homozygous:genome_phred=30.0:snp_phred=759.0:max_mapping_qual=43.0:mismatch_id=4573202:early-termination:uc010jhb.1:uc003lrj.1:BC033641:not_dbSNP:uc003lri.1:chr5:Q17RP2:NM_030953:[NAME]:NP_112215:homozygous:frameshift:TIGD6)
AVPI1 | uc001koh.1,uc001koi.2 | 60370 | chr10 | 99427170 | 99437005 | GO:0000187,GO:0007049 | activation of MAPK activity,cell cycle | chr10:99429662-99429663_C->G(11:11:100.0%[F:4:36.4%|R:7:63.6%]call=homozygous:genome_phred=92.0:snp_phred=92.0:max_mapping_qual=33.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=56.3:mismatch_id=2936915:uc001koi.2:chr10:Q5T686:NM_021732:NP_068378:homozygous:intron-splice-site-mutation:AVPI1:is_dbSNP=rs3818780)
NIBAN | uc009wyh.1,uc009wyi.1 | 116496 | chr1 | 183043430 | 183210305 |  |  | chr1:183043799-183043800_C->A(9:9:100.0%[F:6:66.7%|R:3:33.3%]call=homozygous:genome_phred=86.0:snp_phred=86.0:max_mapping_qual=51.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=49.0:[NAME]:AK310557:early-termination:NIBAN:homozygous:uc009wyi.1:coding-nonsynonymous:chr1:is_dbSNP=rs543912)
HSPC111 | uc003mee.2,uc003med.2 | 51491 | chr5 | 175743555 | 175748146 |  |  | chr5:175743700-175743701_INS:--->GT(14:12:85.7%[F:5:35.7%|R:7:50.0%]call=homozygous:genome_phred=80.0:snp_phred=459.0:max_mapping_qual=59.0:mismatch_id=5412052:chr5:utr-mutation:HSPC111:early-termination:uc003med.2:homozygous:BC019331:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:BC032424:frameshift:uc003mee.2)
[NAME] | uc002llq.1,uc002lls.1 | 84735 | chr18 | 70385368 | 70403241 |  |  | chr18:70374571-70374572_INS:---->TGC(16:9:56.2%[F:2:12.5%|R:7:43.8%]call=homozygous:genome_phred=37.0:snp_phred=310.0:max_mapping_qual=56.0:mismatch_id=10449274:[NAME]:uc002llq.1:NM_032649:homozygous:Q96KN2:NP_116038:frameshift:chr18:is_dbSNP=rs10663835)
MAML3 | uc003ihz.1 | 55534 | chr4 | 140856995 | 141294683 |  |  | chr4:140871034-140871037_DEL:CTG->---(24:6:25.0%[F:3:12.5%|R:3:12.5%]call=homozygous:genome_phred=30.0:snp_phred=199.0:max_mapping_qual=50.0:mismatch_id=4327186:uc003ihz.1:homozygous:not_dbSNP:NM_018717:B2RNU9:frameshift:MAML3:NP_061187:abnormal-ref-gene-model-lacking-start-codon:chr4)
SARM1 | uc010crl.1,uc002hbe.1 | 23098 | chr17 | 23723113 | 23752192 |  |  | chr17:23751848-23751849_DEL:A->-(11:11:100.0%[F:4:36.4%|R:7:63.6%]call=homozygous:genome_phred=71.0:snp_phred=399.0:max_mapping_qual=46.0:mismatch_id=8328450:uc002hbe.1:FLJ00234:utr-mutation:early-termination:Q6SZW1-2:AK093615:uc002hbg.1:intron-splice-site-mutation:NM_015077:SARM1:NM_080669:BC010691:NP_055892:homozygous:abnormal-ref-gene-model-lacking-stop-codon:chr17:NP_542400:frameshift:stop-codon-loss:uc002hbf.1:SLC46A1:is_dbSNP=rs5819844:uc010crl.1)
SLC35F2 | uc001pjq.1,uc001pjs.1,uc001pjr.1 | 54733 | chr11 | 107179943 | 107234890 |  |  | chr11:107182609-107182610_INS:-->A(18:8:44.4%[F:7:38.9%|R:1:5.6%]call=homozygous:genome_phred=41.0:snp_phred=428.0:max_mapping_qual=50.0:mismatch_id=7927983:uc001pjs.1:early-termination:chr11:homozygous:AL833969:not_dbSNP:SLC35F2:frameshift)
[NAME] | uc002shg.1 | 50489 | chr2 | 70910854 | 70916461 | GO:0005488,GO:0005529,GO:0005537,GO:0016020,GO:0016021,GO:0030139 | binding,sugar binding,mannose binding,membrane,integral to membrane,endocytic vesicle | chr2:70916341-70916342_INS:-->C(36:30:83.3%[F:16:44.4%|R:14:38.9%]call=homozygous:genome_phred=115.0:snp_phred=1208.0:max_mapping_qual=43.0:mismatch_id=2263567:NM_015717:early-termination:[NAME]:uc002shg.1:Q9UJ71:homozygous:not_dbSNP:frameshift:NP_056532:intron-splice-site-mutation:chr2)
C5AR1 | uc002pgj.1 | 728 | chr19 | 52504943 | 52517167 | GO:0000187,GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004942,GO:0004944,GO:0005886,GO:0005887,GO:0006935,GO:0006955,GO:0006968,GO:0007165,GO:0007186,GO:0007202,GO:0007204,GO:0007606,GO:0016020,GO:0016021 | activation of MAPK activity,rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,anaphylatoxin receptor activity,C5a anaphylatoxin receptor activity,plasma membrane,integral to plasma membrane,chemotaxis,immune response,cellular defense response,signal transduction,G-protein coupled receptor protein signaling pathway,phospholipase C activation,elevation of cytosolic calcium ion concentration,sensory perception of chemical stimulus,membrane,integral to membrane | chr19:52514877-52514878_G->A(21:19:90.5%[F:8:38.1%|R:11:52.4%]call=homozygous:genome_phred=78.0:snp_phred=116.0:max_mapping_qual=45.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=61.0:snp_ave_qual=45.0:mismatch_id=3883967:NM_001736:C5AR1:P21730:NP_001727:homozygous:uc002pgj.1:chr19:coding-nonsynonymous:intron-splice-site-mutation:is_dbSNP=rs4467185)
XKR5 | uc003wqp.1,uc003wqq.1 | 389610 | chr8 | 6653449 | 6680447 |  |  | chr8:6660787-6660788_DEL:A->-(13:11:84.6%[F:6:46.2%|R:5:38.5%]call=homozygous:genome_phred=57.0:snp_phred=379.0:max_mapping_qual=52.0:mismatch_id=246299:utr-mutation:[NAME]:uc003wqq.1:NP_997294:uc003wqp.1:intron-splice-site-mutation:NM_207411:chr8:homozygous:frameshift:stop-codon-loss:AY534243:is_dbSNP=rs11338621)
OR7C2 | uc002mzz.1 | 26658 | chr19 | 14913300 | 14914260 | GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004984,GO:0005886,GO:0007165,GO:0007186,GO:0007608,GO:0016020,GO:0016021,GO:0050896 | rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,olfactory receptor activity,plasma membrane,signal transduction,G-protein coupled receptor protein signaling pathway,sensory perception of smell,membrane,integral to membrane,response to stimulus | chr19:14913983-14913984_INS:---->ATC(17:10:58.8%[F:5:29.4%|R:5:29.4%]call=homozygous:genome_phred=89.0:snp_phred=462.0:max_mapping_qual=45.0:mismatch_id=9152067:homozygous:not_dbSNP:OR7C2:abnormal-ref-gene-model-lacking-stop-codon:uc002mzz.1:frameshift:NP_036509:chr19:NM_012377:O60412)
GBA3 | uc010iep.1,uc003gqp.2 | 57733 | chr4 | 22303645 | 22430290 |  |  | chr4:22429601-22429602_A->T(20:19:95.0%[F:7:35.0%|R:12:60.0%]call=homozygous:genome_phred=86.0:snp_phred=116.0:max_mapping_qual=50.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=52.6:mismatch_id=323257:NP_001121904:NP_066024:coding-nonsynonymous:intron-splice-site-mutation:NM_020973:GBA3:NM_001128432:homozygous:abnormal-ref-gene-model-lacking-stop-codon:stop-codon-loss:uc003gqp.2:chr4:is_dbSNP=rs358231:uc010iep.1)
ZNF518A | uc001klp.1,uc001klo.1 | 9849 | chr10 | 97879461 | 97913507 |  |  | chr10:97910089-97910090_INS:-->C(30:24:80.0%[F:16:53.3%|R:8:26.7%]call=homozygous:genome_phred=71.0:snp_phred=942.0:max_mapping_qual=45.0:mismatch_id=7657025:utr-mutation:chr10:uc001klo.1:BC109046:not_dbSNP:uc001klr.1:ZNF518A:intron-splice-site-mutation:BC030967:BC011627:uc001klq.1:NM_014803:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:uc001klp.1:NP_055618:[NAME])
NR1H2 | uc002psa.2,uc002prz.2,uc002prv.2,uc010enw.1 | 7376 | chr19 | 55571303 | 55578079 | GO:0003677,GO:0003700,GO:0003707,GO:0004872,GO:0004879,GO:0005515,GO:0005634,GO:0005737,GO:0006350,GO:0006355,GO:0008270,GO:0016481,GO:0043565,GO:0046872 | DNA binding,transcription factor activity,steroid hormone receptor activity,receptor activity,ligand-dependent nuclear receptor activity,protein binding,nucleus,cytoplasm,transcription, DNA-dependent, DNA-dependent,zinc ion binding,negative regulation of transcription,sequence-specific DNA binding | chr19:55573632-55573633_INS:---->AAC(19:8:42.1%[F:5:26.3%|R:3:15.8%]call=homozygous:genome_phred=6.0:snp_phred=395.0:max_mapping_qual=38.0:mismatch_id=10093145:CR603617:uc002psa.2:E11457:uc002prz.2:NR1H2:NP_009052:uc010enw.1:NM_007121:homozygous:A8K490:frameshift:chr19:P55055:is_dbSNP=rs55652650)
PPAN-P2RY11 | uc002mna.1 | 692312 | chr19 | 10077964 | 10087064 |  |  | chr19:10079523-10079524_C->G(8:7:87.5%[F:6:75.0%|R:1:12.5%]call=homozygous:genome_phred=64.0:snp_phred=80.0:max_mapping_qual=38.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=61.0:snp_ave_qual=52.3:mismatch_id=3442163:NP_001035754:Q9NQ55:uc002mmz.1:NM_001040664:early-termination:CR594907:PPAN-P2RY11:uc002mna.1:coding-nonsynonymous:NP_064615:PPAN:A8MV53:Q9NQ55-2:NM_020230:homozygous:uc002mnb.1:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:chr19:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs2305791)
KIAA0638 | uc001ptx.1,uc001ptu.1 | 23187 | chr11 | 118007839 | 118033951 |  |  | chr11:118010886-118010887_DEL:T->-(7:6:85.7%[F:3:42.9%|R:3:42.9%]call=homozygous:genome_phred=59.0:snp_phred=239.0:max_mapping_qual=33.0:mismatch_id=8174993:utr-mutation:AK074918:chr11:uc001ptx.1:homozygous:Q96SW0:intron-splice-site-mutation:KIAA0638:is_dbSNP=rs58507527)
OR2A14 | uc003wdy.1 | 135941 | chr7 | 143457138 | 143458071 | GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004984,GO:0005886,GO:0007165,GO:0007186,GO:0007608,GO:0016020,GO:0016021,GO:0050896 | rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,olfactory receptor activity,plasma membrane,signal transduction,G-protein coupled receptor protein signaling pathway,sensory perception of smell,membrane,integral to membrane,response to stimulus | chr7:143457662-143457665_DEL:CTT->---(20:13:65.0%[F:4:20.0%|R:9:45.0%]call=homozygous:genome_phred=98.0:snp_phred=479.0:max_mapping_qual=38.0:mismatch_id=4363249:uc003wdy.1:Q96R47:NP_001001659:chr7:OR2A14:homozygous:not_dbSNP:frameshift:NM_001001659)
WDR68 | uc002jbb.2,uc002jbc.1 | 10238 | chr17 | 58981553 | 59025373 |  |  | chr17:59014621-59014622_DEL:G->-(14:8:57.1%[F:5:35.7%|R:3:21.4%]call=homozygous:genome_phred=57.0:snp_phred=295.0:[NAME]:mismatch_id=9355836:WDR68:DCAF7:NM_005828:uc002jbc.1:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NP_005819:chr17:stop-codon-loss:intron-splice-site-mutation)
KIAA0702 | uc010bhm.1,uc002apg.1 | 9187 | chr15 | 63703345 | 63735652 |  |  | chr15:63704669-63704670_DEL:C->-(18:17:94.4%[F:7:38.9%|R:10:55.6%]call=homozygous:genome_phred=92.0:snp_phred=639.0:[NAME]:mismatch_id=8855845:utr-mutation:early-termination:KIAA0702:BC117263:uc010bhm.1:AF026132:NM_004727:homozygous:SLC24A1:uc002apf.1:chr15:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:uc002apg.1:NP_004718:is_dbSNP=[NAME])
PABPC1 | uc003yjs.1,uc003yjt.1,uc003yju.1 | 26986 | chr8 | 101785700 | 101803491 |  |  | chr8:101794586-101794587_DEL:T->-(10:4:40.0%[F:2:20.0%|R:2:20.0%]call=homozygous:genome_phred=28.0:snp_phred=193.0:max_mapping_qual=54.0:mismatch_id=3078899:P11940:uc003yjs.1:chr8:uc003yjt.1:NM_002568:homozygous:not_dbSNP:NP_002559:PABPC1:Y00345:intron-splice-site-mutation)
CCDC66 | uc003dhx.1,uc003dhu.1,uc003dhy.1,uc003dhw.1,uc003dhv.1,uc003dia.1,uc003dhz.1 | 285331 | chr3 | 56624936 | 56630874 |  |  | chr3:56625091-56625092_INS:---->CTT(31:13:41.9%[F:4:12.9%|R:9:29.0%]call=homozygous:genome_phred=42.0:snp_phred=670.0:max_mapping_qual=44.0:mismatch_id=1773169:NM_001141947:NM_001012506:utr-mutation:BC132827:NP_001012524:AL832692:not_dbSNP:uc003dhu.1:CCDC66:homozygous:frameshift:uc003dhz.1:AK096754:uc003dhy.1:[NAME]:uc003dia.1:chr3:NP_001135419)
SYT14 | uc001hht.2,uc001hhw.2,uc009xcv.1,uc001hhs.2 | 255928 | chr1 | 208178160 | 208404256 | GO:0016020,GO:0016021 | membrane,integral to membrane | chr1:208334516-208334519_DEL:GAA->---(34:29:85.3%[F:18:52.9%|R:11:32.4%]call=homozygous:genome_phred=89.0:snp_phred=1108.0:[NAME]:mismatch_id=5245676:NP_694994:uc001hhw.2:uc009xcv.1:Q8NB59-3:BC130323:homozygous:chr1:Q8NB59-6:AJ617623:AJ617624:not_dbSNP:uc001hht.2:NM_001146261:NM_153262:NM_001146262:NM_001146264:Q8NB59:uc001hhs.2:SYT14:frameshift:NP_001139734:NP_001139733:A1L3Y1:NP_001139736:abnormal-ref-gene-model-lacking-start-codon)
NUCB2 | uc001mmu.1,uc009ygz.1,uc009ygy.1,uc001mms.1,uc001mmw.1,uc001mmt.1,uc001mmv.1 | 4925,n/a | chr11 | 17273446 | 17309646 | GO:0005509 | calcium ion binding | chr11:17290238-17290239_G->A(29:26:89.7%[F:6:20.7%|R:20:69.0%]call=homozygous:genome_phred=103.0:snp_phred=137.0:max_mapping_qual=49.0:genome_max_qual=15.0:genome_ave_qual=5.7:snp_max_qual=63.0:snp_ave_qual=54.4:mismatch_id=2044977:uc009ygz.1:chr11:uc001mmw.1:P80303:NP_005004:AK128739:coding-nonsynonymous:intron-splice-site-mutation:uc001mmv.1:NUCB2:homozygous:abnormal-ref-gene-model-lacking-stop-codon:Q2L696:AB231311:NM_005013:is_dbSNP=rs2521998)
WASF4 | uc010nhx.1 |  | chrX | 47541296 | 47549521 | GO:0003779,GO:0004969,GO:0005737,GO:0005856,GO:0007186,GO:0016021 | [NAME],histamine receptor activity,cytoplasm,cytoskeleton,G-protein coupled receptor protein signaling pathway,integral to membrane | chrX:47542989-47542990_C->T(13:12:92.3%[F:8:61.5%|R:4:30.8%]call=homozygous:genome_phred=68.0:snp_phred=95.0:max_mapping_qual=45.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=55.0:mismatch_id=3961651:uc010nhx.1:early-termination:NM_001102604:NP_001096074:chrX:WASF4:homozygous:Q8IV90:coding-nonsynonymous:is_dbSNP=rs723119)
SFRS2B | uc001pff.1 | 10929 | chr11 | 94439703 | 94444036 |  |  | chr11:94440550-94440551_INS:-->C(7:6:85.7%[F:5:71.4%|R:1:14.3%]call=homozygous:genome_phred=19.0:snp_phred=159.0:max_mapping_qual=49.0:mismatch_id=7605369:SFRS2B:early-termination:NM_032102:NP_115285:chr11:homozygous:uc001pff.1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:is_dbSNP=rs11410745)
UNC93B1 | uc001omw.1 | 81622 | chr11 | 67515150 | 67528169 |  |  | chr11:67521739-67521740_INS:-->G(18:11:61.1%[F:3:16.7%|R:8:44.4%]call=homozygous:genome_phred=91.0:snp_phred=588.0:max_mapping_qual=46.0:mismatch_id=6940784:uc001omw.1:NP_112192:NM_030930:chr11:homozygous:UNC93B1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:intron-splice-site-mutation:is_dbSNP=rs5792426)
C14orf159 | uc001xyw.2,uc001xza.2,uc001xzc.2,uc001xyx.2,uc001xyv.2,uc001xze.2,uc001xyy.2,uc001xzb.2 | 80017 | chr14 | 90650731 | 90761456 | GO:0005739 | mitochondrion | chr14:90651092-90651093_T->C(49:46:93.9%[F:19:38.8%|R:27:55.1%]call=homozygous:genome_phred=164.0:snp_phred=177.0:max_mapping_qual=49.0:genome_max_qual=29.0:genome_ave_qual=15.0:snp_max_qual=63.0:snp_ave_qual=51.5:mismatch_id=3273342:NP_001095837:C14orf159:homozygous:chr14:NM_001102367:NP_079228:intron-splice-site-mutation:uc001xze.2:Q7Z3D6:is_dbSNP=rs41313505) | chr14:90706284-90706285_C->T(9:9:100.0%[F:5:55.6%|R:4:44.4%]call=homozygous:genome_phred=86.0:snp_phred=86.0:max_mapping_qual=45.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=51.0:mismatch_id=3273915:uc001xzb.2:uc001xza.2:uc001xyw.2:[NAME]:NP_079228:uc001xze.2:uc001xyy.2:uc001xyv.2:BX247989:uc001xyx.2:homozygous:AK091394:Q7Z3D6:is_dbSNP=rs4900072:Q7Z3D6-5:Q8NB88:AK123532:BX248782:coding-nonsynonymous:intron-splice-site-mutation:uc001xyz.2:Q7Z3D6-2:Q7Z3D6-3:NP_001095839:NP_001095837:C14orf159:NP_001095838:NP_001095836:chr14:abnormal-ref-gene-model-lacking-stop-codon:NM_001102366:NM_001102367:NM_024952:NM_001102368:NM_001102369:uc001xzc.2)
TMIE | uc010hjj.1,uc010hjk.1 | 259236 | chr3 | 46717826 | 46727417 | GO:0016021 | integral to membrane | chr3:46726077-46726080_DEL:AAG->---(15:4:26.7%[F:1:6.7%|R:3:20.0%]call=homozygous:genome_phred=83.0:snp_phred=239.0:max_mapping_qual=53.0:mismatch_id=1487755:uc010hjj.1:utr-mutation:BC126260:A8K0R0:NP_671729:TMIE:uc010hjk.1:homozygous:frameshift:chr3:NM_147196:is_dbSNP=rs34038267)
ZNF283 | uc002oxr.2,uc002oxq.1 | 284349 | chr19 | 49023312 | 49044890 | GO:0003676,GO:0005622,GO:0005634,GO:0008270,GO:0046872 | nucleic acid binding,intracellular,nucleus,zinc ion binding,metal ion binding | chr19:49043006-49043012_DEL:GGAGAT->------(6:4:66.7%[F:1:16.7%|R:3:50.0%]call=homozygous:genome_phred=16.0:snp_phred=119.0:max_mapping_qual=41.0:mismatch_id=9910582:utr-mutation:early-termination:ZNF283:inframe-indel:not_dbSNP:Q6RFR9:NP_862828:AK098175:homozygous:abnormal-ref-gene-model-lacking-stop-codon:uc002oxr.2:frameshift:HZF19:NM_181845:start-codon-loss:uc002oxp.2:chr19)
[NAME] | uc001igf.1,uc001ige.2,uc009xhm.1 | 22884 | chr10 | 1092775 | 1168237 |  |  | chr10:1132207-1132208_T->C(27:26:96.3%[F:9:33.3%|R:17:63.0%]call=homozygous:genome_phred=121.0:snp_phred=137.0:max_mapping_qual=39.0:genome_max_qual=16.0:genome_ave_qual=16.0:snp_max_qual=63.0:[NAME]:mismatch_id=1819530:NP_054742:[NAME]:BC018044:chr10:uc001ige.2:homozygous:abnormal-ref-gene-model-lacking-stop-codon:stop-codon-loss:coding-nonsynonymous:NM_014023:is_dbSNP=rs10794716)
ZNF274 | uc010eum.1,uc002qrr.1,uc002qrq.1,uc002qrs.1 | 10782 | chr19 | 63386207 | 63416739 |  |  | chr19:63410172-63410173_INS:-->G(6:4:66.7%[F:2:33.3%|R:2:33.3%]call=homozygous:genome_phred=47.0:snp_phred=150.0:max_mapping_qual=40.0:mismatch_id=10267078:utr-mutation:early-termination:ZNF274:not_dbSNP:NM_133502:AK307906:Q96GC6-4:NP_598009:NP_057408:NM_016325:NM_016324:homozygous:uc010eum.1:abnormal-ref-gene-model-lacking-stop-codon:uc002qrr.1:frameshift:uc002qrq.1:stop-codon-loss:chr19:NP_057409:uc002qrs.1)
LOC145814 | uc010bop.1,uc002bum.1,uc002bun.1 | 145814 | chr15 | 97329031 | 97366408 |  |  | chr15:97329327-97329328_INS:-->C(12:10:83.3%[F:3:25.0%|R:7:58.3%]call=homozygous:genome_phred=54.0:snp_phred=379.0:max_mapping_qual=33.0:mismatch_id=9894299:LOC145814:utr-mutation:early-termination:uc002bum.1:A6NFU8:NM_001102612:uc010bop.1:NP_001096082:homozygous:chr15:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:BC105686:is_dbSNP=[NAME])
MDP1 | uc001wnm.1,uc001wnk.1 | 145553,29082 | chr14 | 23752454 | 23755081 |  |  | chr14:23753106-23753107_DEL:A->-(11:6:54.5%[F:2:18.2%|R:4:36.4%]call=homozygous:genome_phred=69.0:snp_phred=224.0:max_mapping_qual=50.0:[NAME]:BC046912:utr-mutation:CHMP4A:uc001wnm.1:Q86V88:MDP1:uc001wnl.1:homozygous:uc001wnj.1:uc001wni.1:is_dbSNP=rs3215610:NP_054888:uc001wnk.1:NP_612485:Q86V88-3:Q86V88-2:MDP-1:AX747749:NM_014169:Q9BY43:chr14:NM_138476:frameshift:BX161512:stop-codon-loss)
SQLE | uc003yrs.1 | 6713 | chr8 | 126079900 | 126103707 |  |  | chr8:126088870-126088871_DEL:G->-(30:23:76.7%[F:9:30.0%|R:14:46.7%]call=homozygous:genome_phred=128.0:snp_phred=941.0:max_mapping_qual=52.0:mismatch_id=3851279:early-termination:NM_003129:chr8:SQLE:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:uc003yrs.1:intron-splice-site-mutation:NP_003120)
PSORS1C1 | uc003nsl.1,uc010kpp.1,uc010kmg.1,uc010jsj.1,uc003rey.1,uc010kpq.1,uc010kpo.1 | 170679 | chr6_qbl_hap2 | 2343222 | 2357628 |  |  | chr6:31214479-31214480_DEL:C->-(5:5:100.0%[F:3:60.0%|R:2:40.0%]call=homozygous:genome_phred=53.0:snp_phred=159.0:max_mapping_qual=38.0:mismatch_id=793408:chr6:early-termination:NM_014068:PSORS1C1:homozygous:not_dbSNP:uc003nsl.1:frameshift:Q9UIG5:NP_054787)
VPS11 | uc001puy.1 | 55823 | chr11 | 118443702 | 118457898 |  |  | chr11:118445149-118445150_INS:-->C(6:4:66.7%[F:1:16.7%|R:3:50.0%]call=homozygous:genome_phred=56.0:snp_phred=159.0:max_mapping_qual=48.0:mismatch_id=8183553:NM_021729:early-termination:NP_068375:chr11:homozygous:uc001puy.1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:VPS11:intron-splice-site-mutation:is_dbSNP=rs5795166)
SDF4 | uc009vjw.1,uc001adh.2,uc009vjv.1,uc001adi.2,uc001adj.1,uc001adg.1 | 51150 | chr1 | 1142150 | 1157310 |  |  | chr1:1148493-1148494_A->G(16:13:81.2%[F:9:56.2%|R:4:25.0%]call=homozygous:genome_phred=66.0:snp_phred=98.0:max_mapping_qual=50.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=50.0:mismatch_id=7696:NP_057260:NM_016547:CR624179:NM_016176:uc009vjv.1:coding-nonsynonymous:Q9BRK5:B1AME6:uc001adj.1:AK000717:homozygous:uc001adi.2:abnormal-ref-gene-model-lacking-stop-codon:Q96AA1:coding-synonymous:uc001adh.2:stop-codon-loss:NP_057631:chr1:SDF4:is_dbSNP=rs6603781:abnormal-ref-gene-model-lacking-start-codon)
LTBP4 | uc002ook.1,uc002ool.1,uc002ooi.1,uc002oog.1,uc002oom.1,uc002ooj.1,uc002ooh.1,uc010ehb.1 | 8425 | chr19 | 45809591 | 45810942 |  |  | chr19:45814933-45814934_INS:-->G(10:6:60.0%[F:3:30.0%|R:3:30.0%]call=homozygous:genome_phred=68.0:snp_phred=319.0:max_mapping_qual=46.0:mismatch_id=9824985:uc002oog.1:utr-mutation:early-termination:LTBP4:not_dbSNP:uc002ooi.1:NP_001036009:uc002ooj.1:NM_003573:AK128191:NM_001042545:homozygous:NM_001042544:abnormal-ref-gene-model-lacking-stop-codon:uc002ooh.1:frameshift:stop-codon-loss:chr19:NP_003564:NP_001036010:abnormal-ref-gene-model-lacking-start-codon)
OR6C1 | uc001sgu.1 | 390321 | chr12 | 54000650 | 54001589 | GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004984,GO:0005886,GO:0007165,GO:0007186,GO:0007608,GO:0016020,GO:0016021,GO:0050896 | rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,olfactory receptor activity,plasma membrane,signal transduction,G-protein coupled receptor protein signaling pathway,sensory perception of smell,membrane,integral to membrane,response to stimulus | chr12:54000673-54000674_INS:-->A(33:27:81.8%[F:10:30.3%|R:17:51.5%]call=homozygous:genome_phred=49.0:snp_phred=951.0:[NAME]:[NAME]:Q96RD1:early-termination:chr12:uc001sgu.1:NM_001005182:homozygous:OR6C1:frameshift:NP_001005182:is_dbSNP=rs5798345)
SH3BGR | uc002yxz.1,uc002yya.1 | 6450 | chr21 | 39745649 | 39809303 |  |  | chr21:39805541-39805542_INS:---->AGA(29:23:79.3%[F:4:13.8%|R:19:65.5%]call=homozygous:genome_phred=95.0:snp_phred=969.0:max_mapping_qual=38.0:mismatch_id=9763658:uc002yya.1:NP_001001713:NM_001001713:chr21:not_dbSNP:uc002yxz.1:homozygous:NP_031367:SH3BGR:NM_007341:abnormal-ref-gene-model-lacking-stop-codon:frameshift:A6ND59:abnormal-ref-gene-model-lacking-start-codon)
[NAME] | uc010chb.1,uc002few.2,uc002fev.1,uc002fex.1,uc002feu.1 | 85445 | chr16 | 74901235 | 75150636 | GO:0005102,GO:0007155,GO:0007165 | receptor binding,cell adhesion,signal transduction | chr16:74869103-74869104_INS:-->T(42:35:83.3%[F:27:64.3%|R:8:19.0%]call=homozygous:genome_phred=58.0:snp_phred=1255.0:max_mapping_qual=50.0:mismatch_id=8322033:uc002fev.1:utr-mutation:NM_138994:Q86YZ7:[NAME]:not_dbSNP:intron-splice-site-mutation:NP_620481:uc002feu.1:NP_207837:NM_033401:A8MX59:AB100092:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:chr16)
LOC150297 | uc003amd.1 | 150297 | chr22 | 30875518 | 30885243 |  |  | chr22:30884984-30884985_A->G(16:13:81.2%[F:10:62.5%|R:3:18.8%]call=homozygous:genome_phred=67.0:snp_phred=98.0:max_mapping_qual=50.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=52.1:mismatch_id=3681206:Q6IC83:NM_001010859:uc003amd.1:chr22:C22orf42:coding-nonsynonymous:NP_001010859:homozygous:abnormal-ref-gene-model-lacking-stop-codon:stop-codon-loss:LOC150297:is_dbSNP=rs5998267:abnormal-ref-gene-model-lacking-start-codon)
STAU2 | uc003xzp.1,uc003xzr.2,uc003xzn.2,uc010lzk.1,uc003xzq.1,uc003xzs.2,uc010lzl.1,uc003xzo.1,uc003xzm.2 | 27067 | chr8 | 74727057 | 74821611 |  |  | chr8:74743844-74743845_INS:-->G(24:19:79.2%[F:10:41.7%|R:9:37.5%]call=homozygous:genome_phred=70.0:snp_phred=799.0:max_mapping_qual=50.0:mismatch_id=2236352:AL079285:uc003xzr.2:chr8:Q9NUL3-5:homozygous:frameshift:stop-codon-loss:STAU2:is_dbSNP=rs11419133)
ATRNL1 | uc009xyq.1,uc001lcg.1,uc001lcf.1 | 26033 | chr10 | 116843113 | 116921115 |  |  | chr10:116921091-116921092_INS:--->TT(18:12:66.7%[F:8:44.4%|R:4:22.2%]call=homozygous:genome_phred=61.0:snp_phred=528.0:max_mapping_qual=38.0:mismatch_id=8232078:utr-mutation:early-termination:ATRNL1:chr10:CR612664:NP_997186:NM_207303:homozygous:uc001lcf.1:Q5VV63-2:abnormal-ref-gene-model-lacking-stop-codon:frameshift:CR614866:uc009xyq.1:is_dbSNP=rs5788096)
FXR2 | uc002gia.1 | 9513 | chr17 | 7435271 | 7458796 |  |  | chr17:7435886-7435887_DEL:C->-(18:14:77.8%[F:8:44.4%|R:6:33.3%]call=homozygous:genome_phred=12.0:snp_phred=439.0:[NAME]:mismatch_id=7879180:utr-mutation:early-termination:NM_004860:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:chr17:B2R9M2:FXR2:NP_004851:uc002gia.1)
MIA3 | uc009xea.1,uc001hnm.1,uc001hnl.1 | 375056 | chr1 | 220867539 | 220894444 |  |  | chr1:220869548-220869549_C->T(14:14:100.0%[F:7:50.0%|R:7:50.0%]call=homozygous:genome_phred=101.0:snp_phred=101.0:[NAME]:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=57.3:mismatch_id=2204262:early-termination:NP_940953:AK096526:coding-nonsynonymous:uc001hnl.1:MIA3:NM_198551:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:Q5JRA6:chr1:uc009xea.1:A8MT13:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs3008620)
FRG1 | uc003izs.1 | 2483 | chr4 | 191098967 | 191121353 | GO:0005634,GO:0005681,GO:0006364,GO:0006397,GO:0008380,GO:0016607,GO:0042254 | nucleus,spliceosome,rRNA processing,mRNA processing,RNA splicing,nuclear speck,ribosome biogenesis and assembly | chr4:191113280-191113281_G->A(10:6:60.0%[F:2:20.0%|R:4:40.0%]call=homozygous:genome_phred=5.0:snp_phred=77.0:max_mapping_qual=47.0:genome_max_qual=34.0:genome_ave_qual=23.5:snp_max_qual=63.0:snp_ave_qual=53.3:mismatch_id=2246589:early-termination:Q14331:NP_004468:FRG1:uc003izs.1:homozygous:not_dbSNP:NM_004477:coding-nonsynonymous:chr4)
YTHDF3 | uc003xuy.1 | 253943 | chr8 | 64243674 | 64287900 |  |  | chr8:64261283-64261284_INS:-->G(29:27:93.1%[F:15:51.7%|R:12:41.4%]call=homozygous:genome_phred=125.0:snp_phred=1119.0:max_mapping_qual=46.0:mismatch_id=1918670:uc003xva.1:utr-mutation:AL832335:NP_689971:Q658Z6:NM_152758:AX747908:YTHDF3:intron-splice-site-mutation:uc003xuz.1:uc003xuy.1:chr8:homozygous:uc010lys.1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:DKFZp451J085:AL831816:stop-codon-loss:is_dbSNP=rs58419856)
HZF19 | uc002oxp.2 | 284349 | chr19 | 49023312 | 49044890 | GO:0003676,GO:0005622,GO:0005634,GO:0008270,GO:0046872 | nucleic acid binding,intracellular,nucleus,zinc ion binding,metal ion binding | chr19:49043006-49043012_DEL:GGAGAT->------(6:4:66.7%[F:1:16.7%|R:3:50.0%]call=homozygous:genome_phred=16.0:snp_phred=119.0:max_mapping_qual=41.0:mismatch_id=9910582:utr-mutation:early-termination:ZNF283:inframe-indel:not_dbSNP:Q6RFR9:NP_862828:AK098175:homozygous:abnormal-ref-gene-model-lacking-stop-codon:uc002oxr.2:frameshift:HZF19:NM_181845:start-codon-loss:uc002oxp.2:chr19)
GAS8 | uc002fqh.1,uc002fqi.1 | 2622 | chr16 | 88616508 | 88638880 | GO:0003674,GO:0005515,GO:0005737,GO:0005794,GO:0005856,GO:0005874,GO:0005929,GO:0008285,GO:0009434,GO:0019861,GO:0030317,GO:0042995 | molecular_function,protein binding,cytoplasm,Golgi apparatus,cytoskeleton,microtubule,cilium,negative regulation of cell proliferation,microtubule-based flagellum,flagellum,sperm motility,cell projection | chr16:88638450-88638451_C->T(13:11:84.6%[F:4:30.8%|R:7:53.8%]call=homozygous:genome_phred=66.0:snp_phred=92.0:[NAME]:genome_max_qual=2.0:genome_ave_qual=1.5:snp_max_qual=63.0:snp_ave_qual=56.3:mismatch_id=3764116:O95995:utr-mutation:early-termination:BC089450:BC044232:coding-nonsynonymous:GAS8:BX647947:uc002fqi.1:uc010cjc.1:uc010cjd.1:uc002fqh.1:NR_023348:BC036781:NM_001481:homozygous:[NAME]:GAS11:NP_001472:uc002fql.2:chr16:is_dbSNP=rs1048149:uc002fqj.1)
ZBTB33 | uc010nqm.1,uc010nqn.1,uc004esn.1 | 10009 | chrX | 119271298 | 119273317 | GO:0003676,GO:0003677,GO:0005515,GO:0005622,GO:0005634,GO:0005737,GO:0006350,GO:0006355,GO:0007242,GO:0008270,GO:0016055,GO:0046872 | nucleic acid binding,DNA binding,protein binding,intracellular,nucleus,cytoplasm,transcription, DNA-dependent, DNA-dependent,intracellular signaling cascade,zinc ion binding,Wnt receptor signaling pathway | chrX:119271861-119271862_INS:---->TGA(14:10:71.4%[F:7:50.0%|R:3:21.4%]call=homozygous:genome_phred=65.0:snp_phred=424.0:max_mapping_qual=58.0:mismatch_id=10665778:ZBTB33:NP_006768:AK312321:CCDS14596:not_dbSNP:Q86T24:uc010nqm.1:uc004esn.1:uc010nqn.1:chrX:NM_006777:homozygous:frameshift)
EIF4A1 | uc002gho.1,uc002ghq.1,uc002ghr.1,uc002ghp.1 | 1973 | chr17 | 7416325 | 7423048 | GO:0000166,GO:0003676,GO:0004386,GO:0005524,GO:0008026,GO:0016787 | nucleotide binding,nucleic acid binding,helicase activity,ATP binding,ATP-dependent helicase activity,hydrolase activity | chr17:7411009-7411010_DEL:A->-(22:22:100.0%[F:12:54.5%|R:10:45.5%]call=homozygous:genome_phred=104.0:snp_phred=839.0:max_mapping_qual=49.0:mismatch_id=7878531:utr-mutation:NP_056485:not_dbSNP:NM_001416:intron-splice-site-mutation:P60842:uc002gho.1:BC032613:[NAME]:homozygous:EIF4A1:NP_001407:abnormal-ref-gene-model-lacking-stop-codon:frameshift:chr17:stop-codon-loss:NM_015670:uc002ghm.1)
UNQ638 | uc002gkj.2,uc002gkk.2 | 84314 | chr17 | 8017784 | 8020439 |  |  | chr17:8019753-8019754_G->C(22:22:100.0%[F:12:54.5%|R:10:45.5%]call=homozygous:genome_phred=125.0:snp_phred=125.0:max_mapping_qual=49.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=52.7:mismatch_id=2996623:early-termination:AK027813:homozygous:chr17:coding-nonsynonymous:UNQ638:uc002gkk.2:is_dbSNP=rs8064449)
OXA1L | uc001wgp.1,uc010akc.1,uc001wgn.1,uc001wgq.1,uc001wgo.1 | 5018 | chr14 | 22306296 | 22310607 |  |  | chr14:22310553-22310554_INS:---->AGC(19:9:47.4%[F:5:26.3%|R:4:21.1%]call=homozygous:genome_phred=35.0:snp_phred=299.0:max_mapping_qual=45.0:mismatch_id=6132350:OXA1L:CR607911:uc001wgp.1:not_dbSNP:NP_005006:Q15070-2:BX248001:Q15070:homozygous:Q2M1J6:chr14:abnormal-ref-gene-model-lacking-stop-codon:uc001wgq.1:frameshift:CR591385:uc001wgn.1:uc010akc.1:NM_005015)
CAPN2 | uc001hob.2,uc001hoc.1 | 824 | chr1 | 222011948 | 222030343 | GO:0004198,GO:0005509,GO:0005622,GO:0006508 | calcium-dependent cysteine-type endopeptidase activity,calcium ion binding,intracellular,proteolysis | chr1:221972154-221972155_G->A(11:10:90.9%[F:2:18.2%|R:8:72.7%]call=homozygous:genome_phred=66.0:snp_phred=89.0:max_mapping_qual=52.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=55.4:mismatch_id=2215613:P17655:NM_001748:NP_001739:NM_001146068:CAPN2:intron-splice-site-mutation:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:chr1:uc001hob.2:NP_001139540:is_dbSNP=rs3738383)
MKSTYX | uc003uei.1,uc003uef.1,uc003ueh.1,uc010ldg.1 | 51657 | chr7 | 75465569 | 75515234 |  |  | chr7:75468209-75468210_T->C(11:11:100.0%[F:5:45.5%|R:6:54.5%]call=homozygous:genome_phred=92.0:snp_phred=92.0:max_mapping_qual=51.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=54.5:[NAME]:utr-mutation:STYXL1:AK308912:BC024035:uc003ueh.1:AY927581:uc003uef.1:uc010ldg.1:Q9Y6J8-4:uc003uek.2:MKSTYX:chr7:AK308828:NP_057170:homozygous:uc010ldh.1:NM_016086:uc003uej.2:is_dbSNP=rs8565:[NAME]:CR615380:uc003uen.1:intron-splice-site-mutation:AF188204:AF169647:uc003uel.1:coding-synonymous:BX537896:uc003uem.1)
GPBAR1 | uc002vhi.1,uc002vhg.1,uc002vhh.1 | 151306 | chr2 | 218833982 | 218836826 |  |  | chr2:218835896-218835897_INS:-->C(10:6:60.0%[F:2:20.0%|R:4:40.0%]call=homozygous:genome_phred=28.0:snp_phred=159.0:max_mapping_qual=44.0:mismatch_id=6760844:uc002vhi.1:NM_001077194:NM_001077191:NP_001070662:uc002vhg.1:intron-splice-site-mutation:GPBAR1:NP_733800:homozygous:abnormal-ref-gene-model-lacking-stop-codon:NM_170699:frameshift:stop-codon-loss:chr2:uc002vhh.1:is_dbSNP=rs5838688:NP_001070659)
BC089450 | uc010cjd.1 |  | chr16 | 88637332 | 88641675 |  |  | chr16:88638450-88638451_C->T(13:11:84.6%[F:4:30.8%|R:7:53.8%]call=homozygous:genome_phred=66.0:snp_phred=92.0:[NAME]:genome_max_qual=2.0:genome_ave_qual=1.5:snp_max_qual=63.0:snp_ave_qual=56.3:mismatch_id=3764116:O95995:utr-mutation:early-termination:BC089450:BC044232:coding-nonsynonymous:GAS8:BX647947:uc002fqi.1:uc010cjc.1:uc010cjd.1:uc002fqh.1:NR_023348:BC036781:NM_001481:homozygous:[NAME]:GAS11:NP_001472:uc002fql.2:chr16:is_dbSNP=rs1048149:uc002fqj.1)
EXOC6B | uc002sij.2,uc010fep.1 | 23233 | chr2 | 72259951 | 72906685 | GO:0000145,GO:0006810,GO:0006887,GO:0006904,GO:0015031 | exocyst,transport,exocytosis,vesicle docking during exocytosis,protein transport | chr2:72545780-72545781_INS:--->AG(32:30:93.8%[F:19:59.4%|R:11:34.4%]call=homozygous:genome_phred=94.0:snp_phred=1159.0:max_mapping_qual=40.0:mismatch_id=2308624:uc002sij.2:early-termination:[NAME]:homozygous:frameshift:chr2:intron-splice-site-mutation:NP_056004:EXOC6B:is_dbSNP=rs5832083:AB023136:NM_015189)
CCDC53 | uc001tja.2,uc001tjb.2,uc001tiz.2,uc001tiy.2 | 51019 | chr12 | 100930847 | 100980029 |  |  | chr12:100943939-100943940_INS:-->G(13:12:92.3%[F:5:38.5%|R:7:53.8%]call=homozygous:genome_phred=77.0:snp_phred=479.0:max_mapping_qual=37.0:mismatch_id=9135063:uc001tiy.2:early-termination:NM_016053:chr12:not_dbSNP:NP_057137:intron-splice-site-mutation:uc001tjb.2:homozygous:CCDC53:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:CR623956)
RTTN | uc002lkq.1,uc002lkp.1 | 25914 | chr18 | 65984649 | 66023942 |  |  | chr18:66014830-66014831_INS:---->CTC(23:14:60.9%[F:5:21.7%|R:9:39.1%]call=homozygous:genome_phred=88.0:snp_phred=580.0:max_mapping_qual=45.0:mismatch_id=10416184:AK096404:Q86VV8:uc002lkp.1:homozygous:not_dbSNP:NM_173630:uc002lkq.1:frameshift:Q86VV8-2:chr18:NP_775901:RTTN)
NR2E3 | uc002ath.1,uc002ati.1 | 10002 | chr15 | 69889947 | 69897651 |  |  | chr15:69892982-69892983_DEL:C->-(14:11:78.6%[F:9:64.3%|R:2:14.3%]call=homozygous:genome_phred=80.0:snp_phred=468.0:max_mapping_qual=39.0:mismatch_id=9063182:early-termination:uc002ati.1:NP_057430:NR2E3:intron-splice-site-mutation:NM_016346:uc002ath.1:NM_014249:homozygous:chr15:NP_055064:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:is_dbSNP=rs11351249)
CEACAM20 | uc010ejp.1,uc010ejn.1,uc010ejo.1,uc010ejq.1 | 125931 | chr19 | 49702050 | 49725388 |  |  | chr19:49708830-49708831_DEL:T->-(18:16:88.9%[F:8:44.4%|R:8:44.4%]call=homozygous:genome_phred=89.0:snp_phred=596.0:[NAME]:mismatch_id=9931831:CEACAM20:early-termination:uc010ejn.1:NM_001102600:NM_001102598:NM_001102599:intron-splice-site-mutation:NM_001102597:NP_001096070:uc010ejo.1:homozygous:uc010ejp.1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:chr19:NP_001096069:uc010ejq.1:NP_001096068:NP_001096067:is_dbSNP=rs5828200)
CWC15 | uc009ywl.1,uc001pfd.2 | 51503 | chr11 | 94343775 | 94346358 |  |  | chr11:94339155-94339156_INS:-->T(10:10:100.0%[F:6:60.0%|R:4:40.0%]call=homozygous:genome_phred=68.0:snp_phred=359.0:max_mapping_qual=39.0:mismatch_id=7602988:NM_016403:uc001pfd.2:chr11:homozygous:CWC15:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:intron-splice-site-mutation:NP_057487:is_dbSNP=rs34805065)
GREB1 | uc002rbp.1,uc002rbo.1,uc002rbn.1,uc002rbm.2,uc002rbk.1,uc002rbl.1 | 9687 | chr2 | 11669835 | 11700363 |  |  | chr2:11644957-11644958_G->A(16:14:87.5%[F:9:56.2%|R:5:31.2%]call=homozygous:genome_phred=68.0:snp_phred=101.0:max_mapping_qual=44.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=54.0:[NAME]:mismatch_id=190775:GREB1:Q4ZG55-3:homozygous:uc002rbl.1:NP_683701:intron-splice-site-mutation:chr2:NM_148903:is_dbSNP=rs13394619)
SLC4A2 | uc003wiu.2,uc003wit.2,uc003wiv.2 | 6522 | chr7 | 150399950 | 150404547 |  |  | chr7:150395997-150395998_T->C(6:5:83.3%[F:2:33.3%|R:3:50.0%]call=homozygous:genome_phred=62.0:snp_phred=74.0:max_mapping_qual=28.0:[NAME]:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=46.4:mismatch_id=1724778:BC009434:P04920:coding-nonsynonymous:uc003wit.2:NP_003031:uc003wiu.2:chr7:homozygous:P04920-2:abnormal-ref-gene-model-lacking-stop-codon:SLC4A2:coding-synonymous:stop-codon-loss:NM_003040:is_dbSNP=rs2229550)
OR2T35 | uc001ies.1 | 403244 | chr1 | 246868210 | 246869182 | GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004984,GO:0005886,GO:0007165,GO:0007186,GO:0007608,GO:0016020,GO:0016021,GO:0050896 | rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,olfactory receptor activity,plasma membrane,signal transduction,G-protein coupled receptor protein signaling pathway,sensory perception of smell,membrane,integral to membrane,response to stimulus | chr1:246868225-246868226_INS:--->CA(16:10:62.5%[F:3:18.8%|R:7:43.8%]call=homozygous:genome_phred=13.0:snp_phred=366.0:max_mapping_qual=49.0:mismatch_id=6459291:Q8NGX2:early-termination:NP_001001827:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:uc001ies.1:frameshift:OR2T35:NM_001001827:chr1)
FAM19A4 | uc003dni.1,uc003dnh.1 | 151647 | chr3 | 68863606 | 69064401 | GO:0005576 | extracellular region | chr3:68863735-68863745_DEL:TAAACAACAT->----------(16:10:62.5%[F:6:37.5%|R:4:25.0%]call=homozygous:genome_phred=84.0:snp_phred=437.0:max_mapping_qual=43.0:mismatch_id=2162230:utr-mutation:NP_872328:NP_001005527:NM_182522:not_dbSNP:uc003dni.1:FAM19A4:Q96LR4:intron-splice-site-mutation:uc003dnh.1:NM_001005527:homozygous:chr3)
OR1S1 | uc001nmo.1 | 219959 | chr11 | 57738792 | 57739770 | GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004984,GO:0005886,GO:0007165,GO:0007186,GO:0007608,GO:0016020,GO:0016021,GO:0050896 | rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,olfactory receptor activity,plasma membrane,signal transduction,G-protein coupled receptor protein signaling pathway,sensory perception of smell,membrane,integral to membrane,response to stimulus | chr11:57739769-57739770_A->G(7:4:57.1%[F:2:28.6%|R:2:28.6%]call=homozygous:genome_phred=18.0:snp_phred=71.0:max_mapping_qual=39.0:genome_max_qual=34.0:genome_ave_qual=20.7:snp_max_qual=49.0:snp_ave_qual=44.8:mismatch_id=2534308:NP_001004458:uc001nmo.1:Q8NH92:NM_001004458:chr11:homozygous:stop-codon-loss:coding-nonsynonymous:OR1S1:is_dbSNP=rs7103033)
ZNF2 | uc002suf.1,uc010fhs.1,uc002sug.1 | 7549 | chr2 | 95194909 | 95213791 | GO:0003676,GO:0005622,GO:0005634,GO:0008270,GO:0046872 | nucleic acid binding,intracellular,nucleus,zinc ion binding,metal ion binding | chr2:95210767-95210770_DEL:GCG->---(16:13:81.2%[F:4:25.0%|R:9:56.2%]call=homozygous:genome_phred=86.0:snp_phred=519.0:max_mapping_qual=41.0:mismatch_id=2841449:Q68CY6:NM_021088:NP_066574:uc002suf.1:uc002sug.1:uc010fhs.1:Q9BSG1:ZNF2:A8MWV7:CR749650:NM_001017396:homozygous:NP_001017396:frameshift:chr2:is_dbSNP=rs10578519)
BC011779 | uc004aeb.2 |  | chr9 | 66196485 | 66198358 |  |  | chr9:66197051-66197052_INS:--->AC(19:11:57.9%[F:2:10.5%|R:9:47.4%]call=homozygous:genome_phred=15.0:snp_phred=479.0:max_mapping_qual=46.0:mismatch_id=5441421:early-termination:chr9:BC011779:uc004aeb.2:homozygous:not_dbSNP:frameshift)
CEACAM21 | uc002org.2,uc002ore.2 | 90273 | chr19 | 46774370 | 46785037 |  |  | chr19:46784654-46784655_T->A(22:21:95.5%[F:17:77.3%|R:4:18.2%]call=homozygous:genome_phred=92.0:snp_phred=122.0:max_mapping_qual=43.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=51.9:mismatch_id=3816474:CEACAM21:NP_291021:Q3KPI0:intron-splice-site-mutation:NM_001098506:Q3KPI0-2:uc002org.2:uc002ore.2:homozygous:NP_001091976:NM_033543:chr19:is_dbSNP=rs3745936)
SLC37A2 | uc001qbn.1,uc001qbp.1,uc009zbk.1 | 219855 | chr11 | 124438441 | 124464341 |  |  | chr11:124464061-124464062_INS:------>GCTCT(8:4:50.0%[F:3:37.5%|R:1:12.5%]call=homozygous:genome_phred=32.0:snp_phred=209.0:max_mapping_qual=30.0:mismatch_id=8332864:utr-mutation:chr11:Q8TED4-2:SLC37A2:NM_198277:homozygous:not_dbSNP:NP_001138762:intron-splice-site-mutation:uc009zbk.1:NP_938018:NM_001145290)
FLI1 | uc001qem.1,uc009zci.1,uc001qen.2 | 2313 | chr11 | 128069198 | 128186099 |  |  | chr11:128143426-128143427_DEL:G->-(6:6:100.0%[F:5:83.3%|R:1:16.7%]call=homozygous:genome_phred=56.0:snp_phred=173.0:max_mapping_qual=44.0:[NAME]:FLI1:uc001qen.2:chr11:AF147318:homozygous:frameshift:stop-codon-loss:is_dbSNP=rs35044982)
HEATR4 | uc010art.1 | 399671 | chr14 | 73014944 | 73095404 | GO:0005488 | binding | chr14:73033135-73033136_T->C(35:31:88.6%[F:14:40.0%|R:17:48.6%]call=homozygous:genome_phred=110.0:snp_phred=152.0:max_mapping_qual=50.0:genome_max_qual=15.0:genome_ave_qual=6.0:snp_max_qual=63.0:snp_ave_qual=54.4:mismatch_id=3033783:HEATR4:NM_203309:uc010art.1:homozygous:chr14:coding-synonymous:NP_976054:Q86WZ0:intron-splice-site-mutation:is_dbSNP=rs8014577)
PLAC8 | uc003hoc.1,uc003hod.1,uc003hoe.1 | 51316 | chr4 | 84234854 | 84250020 |  |  | chr4:84230929-84230935_DEL:AATTCG->------(10:4:40.0%[F:3:30.0%|R:1:10.0%]call=homozygous:genome_phred=48.0:snp_phred=99.0:max_mapping_qual=41.0:mismatch_id=2542667:NP_057703:utr-mutation:NM_016619:homozygous:not_dbSNP:intron-splice-site-mutation:Q9NZF1:NP_001124188:PLAC8:NM_001130716:uc003hoc.1:chr4)
LOC441493 | uc004dip.1 |  | chrX | 47578762 | 47581136 |  |  | chrX:47580686-47580687_DEL:T->-(21:18:85.7%[F:11:52.4%|R:7:33.3%]call=homozygous:genome_phred=101.0:snp_phred=759.0:max_mapping_qual=42.0:mismatch_id=10488948:early-termination:chrX:uc004dip.1:homozygous:A4QMS1:frameshift:BC104166:is_dbSNP=rs35084954:LOC441493)
UNQ2790 | uc003eiw.1 |  | chr3 | 127649749 | 127652303 |  |  | chr3:127652161-127652162_T->C(11:10:90.9%[F:4:36.4%|R:6:54.5%]call=homozygous:genome_phred=66.0:snp_phred=89.0:max_mapping_qual=39.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=43.4:mismatch_id=1469265:uc003eiw.1:homozygous:UNQ2790:start-codon-loss:coding-nonsynonymous:AY358102:chr3:is_dbSNP=rs777495)
SLC5A9 | uc009vyt.1,uc001crp.1,uc001crn.1,uc001cro.1 | 200010 | chr1 | 48477580 | 48486903 |  |  | chr1:48480814-48480815_G->T(9:6:66.7%[F:2:22.2%|R:4:44.4%]call=homozygous:genome_phred=4.0:snp_phred=77.0:max_mapping_qual=54.0:genome_max_qual=44.0:genome_ave_qual=29.0:snp_max_qual=50.0:snp_ave_qual=42.5:mismatch_id=546994:uc001cro.1:NP_001011547:early-termination:BC048332:NM_001011547:NM_001135181:coding-nonsynonymous:uc001crn.1:uc001crp.1:AK131200:Q2M3M2:NP_001128653:homozygous:SLC5A9:chr1:is_dbSNP[NAME])
DENND3 | uc003yvx.2,uc003yvw.1,uc003ywa.1,uc010mep.1,uc003yvy.1,uc003yvz.1 | 22898 | chr8 | 142263768 | 142275088 |  |  | chr8:142254899-142254900_T->C(16:16:100.0%[F:11:68.8%|R:5:31.2%]call=homozygous:genome_phred=107.0:snp_phred=107.0:max_mapping_qual=45.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=49.4:mismatch_id=1646347:utr-mutation:chr8:uc003yvz.1:AK125506:homozygous:NM_014957:stop-codon-loss:NP_055772:DENND3:coding-nonsynonymous:is_dbSNP=rs307733) | chr8:142215889-142215890_T->C(8:8:100.0%[F:4:50.0%|R:4:50.0%]call=homozygous:genome_phred=83.0:snp_phred=83.0:max_mapping_qual=44.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=47.4:mismatch_id=1646007:A2RUS2:A2RUS2-5:utr-mutation:A2RUS2-4:A2RUS2-2:NM_014957:uc010mep.1:NP_055772:BC110827:coding-nonsynonymous:uc003yvw.1:chr8:homozygous:BC133023:start-codon-loss:AK058001:DENND3:uc003yvx.2:uc003yvy.1:is_dbSNP=rs307772)
AGL | uc001dsi.1,uc001dsj.1,uc001dsn.1,uc001dsm.1,uc001dsl.1,uc001dsk.1 | 178 | chr1 | 100099353 | 100162167 |  |  | chr1:100089176-100089177_A->G(31:25:80.6%[F:14:45.2%|R:11:35.5%]call=homozygous:genome_phred=97.0:snp_phred=120.0:max_mapping_qual=49.0:genome_max_qual=14.0:genome_ave_qual=3.6:snp_max_qual=63.0:snp_ave_qual=50.7:mismatch_id=1120388:uc001dsl.1:utr-mutation:NM_000646:uc001dsm.1:NM_000642:NM_000643:NM_000644:uc001dsk.1:intron-splice-site-mutation:NP_000637:NM_000028:uc001dsi.1:NP_000635:NP_000634:NP_000633:NP_000019:P35573:homozygous:P35573-3:chr1:AGL:uc001dsj.1:is_dbSNP=rs2307130)
GCOM1 | uc002aep.1,uc002aeq.1,uc002aej.1,uc002aek.2,uc002ael.2,uc010bfy.1,uc010bfx.1,uc002aei.1,uc002aem.1,uc002aen.1,uc002aeo.1 | 145781 | chr15 | 55671405 | 55797045 |  |  | chr15:55705381-55705382_A->G(22:22:100.0%[F:11:50.0%|R:11:50.0%]call=homozygous:genome_phred=125.0:snp_phred=125.0:max_mapping_qual=37.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=53.8:mismatch_id=2928385:utr-mutation:uc002aej.1:NM_001018100:NP_001018101:uc002aem.1:NP_001018100:NP_001018110:intron-splice-site-mutation:Q6K051:GCOM1:NM_001018090:NM_001018091:homozygous:chr15:Q6K051-4:coding-synonymous:Q6K051-3:NM_152451:NP_689664:Q6K051-2:uc002aeo.1:uc002aei.1:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs2958059)
ALDH3B1 | uc001omy.1,uc001onb.1,uc001omx.1,uc001ona.1,uc001omz.1 | 221 | chr11 | 67540166 | 67553319 |  |  | chr11:67542640-67542641_INS:-->C(9:5:55.6%[F:4:44.4%|R:1:11.1%]call=homozygous:genome_phred=65.0:snp_phred=240.0:max_mapping_qual=43.0:mismatch_id=6941279:uc001omz.1:early-termination:chr11:homozygous:not_dbSNP:NM_000694:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:NP_000685:ALDH3B1)
GUCA1A | uc003ory.1,uc003orx.1,uc010jxt.1 | 2978 | chr6 | 42231151 | 42255772 | GO:0005509,GO:0007165,GO:0007601,GO:0008048,GO:0016020,GO:0050896 | calcium ion binding,signal transduction,visual perception,calcium sensitive guanylate cyclase activator activity,membrane,response to stimulus | chr6:42231294-42231295_A->C(6:5:83.3%[F:3:50.0%|R:2:33.3%]call=homozygous:genome_phred=62.0:snp_phred=74.0:max_mapping_qual=47.0:genome_max_qual=4.0:genome_ave_qual=4.0:snp_max_qual=63.0:snp_ave_qual=45.6:mismatch_id=448538:uc003ory.1:utr-mutation:GUCA1A:uc003orx.1:NP_000400:AK125780:coding-nonsynonymous:AK313865:NM_000409:chr6:uc010jxt.1:homozygous:P43080:start-codon-loss:is_dbSNP=rs2207730)
MAP3K14 | uc002iiw.1,uc002iiv.1,uc002iiu.1,uc010daj.1 | 9020 | chr17 | 40696270 | 40720194 |  |  | chr17:40720076-40720077_INS:-->G(12:9:75.0%[F:3:25.0%|R:6:50.0%]call=homozygous:genome_phred=74.0:snp_phred=439.0:max_mapping_qual=40.0:mismatch_id=8784713:uc002iiw.1:utr-mutation:uc002iiv.1:intron-splice-site-mutation:Y10256:NP_003945:Q6ZMZ1:homozygous:NM_003954:abnormal-ref-gene-model-lacking-stop-codon:chr17:frameshift:stop-codon-loss:MAP3K14:is_dbSNP=rs56405343)
BC029459 | uc002rew.1 |  | chr2 | 24153231 | 24246011 |  |  | chr2:24240682-24240683_INS:-->C(23:13:56.5%[F:7:30.4%|R:6:26.1%]call=homozygous:genome_phred=93.0:snp_phred=687.0:max_mapping_qual=43.0:mismatch_id=795417:utr-mutation:early-termination:BC029459:not_dbSNP:LOC375190:NP_001139182:uc002rew.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:NM_001145710:chr2:abnormal-ref-gene-model-lacking-start-codon)
PKLR | uc001fkb.2,uc001fka.2 | 5313 | chr1 | 153525707 | 153537849 | GO:0000287,GO:0003824,GO:0004743,GO:0006096,GO:0016301,GO:0016740,GO:0030955,GO:0046872,GO:0051707 | magnesium ion binding,catalytic activity,pyruvate kinase activity,glycolysis,kinase activity,transferase activity,potassium ion binding,metal ion binding,response to other organism | chr1:153527006-153527007_G->T(10:10:100.0%[F:5:50.0%|R:5:50.0%]call=homozygous:genome_phred=89.0:snp_phred=89.0:max_mapping_qual=30.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=46.4:mismatch_id=1471822:uc001fkb.2:early-termination:B1AVT1:NP_870986:P30613:coding-nonsynonymous:NP_000289:PKLR:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:NM_181871:NM_000298:chr1:uc001fka.2:is_dbSNP=rs1052176:abnormal-ref-gene-model-lacking-start-codon)
SON | uc002ysg.2,uc002yse.1,uc002ysb.1,uc002ysh.2,uc002ysc.1 | 6651 | chr21 | 33837219 | 33871682 | GO:0003676,GO:0003677,GO:0003723,GO:0003725,GO:0005515,GO:0005575,GO:0005622,GO:0005634,GO:0006916,GO:0016607 | nucleic acid binding,DNA binding,RNA binding,double-stranded RNA binding,protein binding,cellular_component,intracellular,nucleus,anti-apoptosis,nuclear speck | chr21:33870566-33870567_DEL:A->-(7:7:100.0%[F:1:14.3%|R:6:85.7%]call=homozygous:genome_phred=59.0:snp_phred=239.0:max_mapping_qual=60.0:mismatch_id=9578190:utr-mutation:P18583:KIAA1019:uc002ysf.1:Q6ZRV7:chr21:NM_138927:NP_620305:SON:uc002yse.1:homozygous:BC046101:frameshift:is_dbSNP=rs34373121) | chr21:33870554-33870555_INS:-->A(13:6:46.2%[F:1:7.7%|R:5:38.5%]call=homozygous:genome_phred=61.0:snp_phred=303.0:max_mapping_qual=54.0:mismatch_id=9578181:utr-mutation:P18583:KIAA1019:uc002ysf.1:Q6ZRV7:chr21:not_dbSNP:NM_138927:NP_620305:SON:uc002yse.1:homozygous:BC046101:frameshift)
CCDC33 | uc002axp.2,uc010bjl.1,uc002axo.1,uc002axr.1,uc002axq.1 | 80125 | chr15 | 72397952 | 72415066 |  |  | chr15:72323453-72323456_DEL:AAG->---(12:12:100.0%[F:6:50.0%|R:6:50.0%]call=homozygous:genome_phred=74.0:snp_phred=439.0:max_mapping_qual=36.0:mismatch_id=9140428:utr-mutation:NM_025055:uc002axo.1:homozygous:not_dbSNP:CCDC33:chr15:Q8N5R6:frameshift:NP_079331)
[NAME] | uc001lls.1 | 54777 | chr10 | 134471885 | 134521226 |  |  | chr10:134472397-134472398_T->C(6:5:83.3%[F:2:33.3%|R:3:50.0%]call=homozygous:genome_phred=62.0:snp_phred=74.0:max_mapping_qual=54.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=56.6:mismatch_id=3333309:chr10:uc001lls.1:homozygous:NM_017609:coding-synonymous:coding-nonsynonymous:intron-splice-site-mutation:C10orf92:Q8IYW2:NP_060079:is_dbSNP=rs2767434:abnormal-ref-gene-model-lacking-start-codon)
ZNF117 | uc003ttr.2 | 51351 | chr7 | 64072264 | 64088849 |  |  | chr7:64076101-64076102_G->A(11:10:90.9%[F:9:81.8%|R:1:9.1%]call=homozygous:genome_phred=78.0:snp_phred=89.0:[NAME]:genome_max_qual=10.0:genome_ave_qual=10.0:snp_max_qual=63.0:snp_ave_qual=55.5:mismatch_id=767426:uc003ttr.2:chr7:early-termination:NP_056936:homozygous:Q03924-2:abnormal-ref-gene-model-lacking-stop-codon:ZNF117:NM_015852:coding-nonsynonymous:is_dbSNP=rs1404453)
R3HCC1 | uc003xdf.1 | 203069 | chr8 | 23201559 | 23209733 | GO:0003676 | nucleic acid binding | chr8:23203508-23203509_G->A(5:5:100.0%[F:1:20.0%|R:4:80.0%]call=homozygous:genome_phred=74.0:snp_phred=74.0:max_mapping_qual=38.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=50.6:mismatch_id=316807:CR626128:utr-mutation:R3HCC1:Q9Y3T6:uc003xdf.1:coding-nonsynonymous:intron-splice-site-mutation:chr8:NP_001129580:homozygous:NM_001136108:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs3808536)
LRRC17 | uc003vau.1,uc003vat.1 | 10234 | chr7 | 102340687 | 102372632 | GO:0005515 | protein binding | chr7:102362235-102362238_DEL:GAA->---(16:12:75.0%[F:5:31.2%|R:7:43.8%]call=homozygous:genome_phred=86.0:snp_phred=519.0:max_mapping_qual=37.0:mismatch_id=2961049:[NAME]:NM_001031692:Q8N6Y2-2:NP_005815:NP_001026862:LRRC17:NM_005824:uc003vat.1:chr7:homozygous:uc003vau.1:frameshift:is_dbSNP=rs3832497:abnormal-ref-gene-model-lacking-start-codon)
TRPM1 | uc001zfm.1,uc010azy.1,uc001zfn.2 | 4308 | chr15 | 29080842 | 29147587 |  |  | chr15:29156414-29156415_A->G(28:27:96.4%[F:15:53.6%|R:12:42.9%]call=homozygous:genome_phred=115.0:snp_phred=140.0:max_mapping_qual=51.0:genome_max_qual=28.0:genome_ave_qual=28.0:snp_max_qual=63.0:snp_ave_qual=55.6:mismatch_id=2626786:utr-mutation:Q6PE48:coding-nonsynonymous:uc001zfn.2:TRPM1:BC005892:Q7Z4N2:uc001zfm.1:NP_002411:homozygous:chr15:start-codon-loss:NM_002420:is_dbSNP=[NAME])
FKBP3 | uc001wwb.1 | 2287 | chr14 | 44654858 | 44674272 | GO:0003755,GO:0004872,GO:0005528,GO:0005634,GO:0006457,GO:0016853 | peptidyl-prolyl cis-trans isomerase activity,receptor activity,FK506 binding,nucleus,protein folding,isomerase activity | chr14:44674210-44674211_C->T(16:16:100.0%[F:3:18.8%|R:13:81.2%]call=homozygous:genome_phred=107.0:snp_phred=107.0:max_mapping_qual=33.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=52.4:mismatch_id=2680275:NM_002013:NP_002004:uc001wwb.1:homozygous:FKBP3:chr14:intron-splice-site-mutation:Q00688:is_dbSNP=rs8009193)
LOXHD1 | uc002lce.2,uc002lcg.1,uc002lcd.2,uc002lcf.2 | 125336 | chr18 | 42343527 | 42435624 |  |  | chr18:42380906-42380907_T->C(8:5:62.5%[F:1:12.5%|R:4:50.0%]call=homozygous:genome_phred=58.0:snp_phred=75.0:max_mapping_qual=52.0:genome_max_qual=11.0:genome_ave_qual=4.3:snp_max_qual=61.0:snp_ave_qual=50.0:[NAME]:[NAME]-3:utr-mutation:Q8IVV2-2:NP_653213:AK127869:BX647229:uc002lce.2:coding-nonsynonymous:uc002lcf.2:BC041860:uc002lcg.1:NM_144612:NP_001138944:LOXHD1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:NM_001145472:stop-codon-loss:chr18:is_dbSNP=rs1893566:abnormal-ref-gene-model-lacking-start-codon)
ZNF480 | uc010epn.1,uc002pyv.1,uc002pyu.1 | 147657 | chr19 | 57492262 | 57520986 |  |  | chr19:57495481-57495483_DEL:TG->--(34:29:85.3%[F:14:41.2%|R:15:44.1%]call=homozygous:genome_phred=140.0:snp_phred=1144.0:max_mapping_qual=45.0:mismatch_id=10144968:NM_144684:utr-mutation:early-termination:AK096442:Q8WV37-3:NP_653285:uc010epn.1:uc002pyv.1:homozygous:AL832560:[NAME]:uc002pyu.1:ZNF480:frameshift:chr19:is_dbSNP=rs3217319)
PIK3R6 | uc002glq.1 | 146850 | chr17 | 8646779 | 8711719 |  |  | chr17:8665939-8665940_INS:-->G(23:18:78.3%[F:12:52.2%|R:6:26.1%]call=homozygous:genome_phred=90.0:snp_phred=782.0:max_mapping_qual=39.0:mismatch_id=7913986:A8MXY1:NM_001010855:uc002glq.1:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:chr17:PIK3R6:stop-codon-loss:NP_001010855:abnormal-ref-gene-model-lacking-start-codon)
EFHD1 | uc010fyf.1,uc002vtc.1,uc002vtd.1 | 80303 | chr2 | 233179010 | 233255730 | GO:0005509 | calcium ion binding | chr2:233206912-233206913_G->T(8:7:87.5%[F:3:37.5%|R:4:50.0%]call=homozygous:genome_phred=64.0:snp_phred=80.0:max_mapping_qual=56.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=51.9:mismatch_id=2776877:early-termination:uc002vtc.1:coding-nonsynonymous:EFHD1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:NM_025202:Q9BUP0:chr2:NP_079478:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs2276557)
CARD8 | uc010elt.1,uc002pie.2,uc002pif.2,uc002pih.2,uc002pii.2,uc002pig.2 | 22900 | chr19 | 53403154 | 53444916 |  |  | chr19:53429517-53429518_A->T(10:9:90.0%[F:4:40.0%|R:5:50.0%]call=homozygous:genome_phred=65.0:snp_phred=86.0:max_mapping_qual=46.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=50.6:mismatch_id=3890207:utr-mutation:uc002pif.2:Q9Y2G2-2:Q9Y2G2-3:NM_014959:AF511652:uc002pie.2:[NAME]:BC056891:homozygous:BC045539:is_dbSNP=rs2043211:BC041697:uc010elu.1:early-termination:CARD8:uc010elt.1:uc002pih.2:uc002pig.2:coding-nonsynonymous:Q6MZI8:Q4G0N6:BX648568:Q9Y2G2:NP_055774:chr19:AK311079:uc002pii.2)
[NAME] | uc002uph.1 | 91752 | chr2 | 185171337 | 185512459 | GO:0003676,GO:0005622,GO:0008270 | nucleic acid binding,intracellular,zinc ion binding | chr2:185510456-185510457_INS:---->ACA(32:25:78.1%[F:12:37.5%|R:13:40.6%]call=homozygous:genome_phred=134.0:snp_phred=1119.0:max_mapping_qual=37.0:mismatch_id=5651201:uc002uph.1:A7E253:homozygous:NP_919226:frameshift:NM_194250:chr2:[NAME]:is_dbSNP=rs5836928)
FBXL21 | uc010jec.1 | 26223 | chr5 | 135300161 | 135305266 |  |  | chr5:135304100-135304103_DEL:GTT->---(17:10:58.8%[F:6:35.3%|R:4:23.5%]call=homozygous:genome_phred=89.0:snp_phred=439.0:max_mapping_qual=41.0:mismatch_id=4148189:chr5:NM_012159:FBXL21:uc010jec.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NP_036291:is_dbSNP=rs1160982)
AV4S1 | uc001wdj.2,uc010ajm.1 |  | chr14 | 21740316 | 22051730 |  |  | chr14:21740814-21740815_G->A(16:16:100.0%[F:11:68.8%|R:5:31.2%]call=homozygous:genome_phred=107.0:snp_phred=107.0:max_mapping_qual=45.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=54.4:mismatch_id=2405102:uc001wdj.2:AB305747:homozygous:chr14:A6NGS7:intron-splice-site-mutation:is_dbSNP=[NAME]:AV4S1)
C16orf35 | uc002cfr.1,uc002cfq.1,uc002cfp.1,uc002cfs.1 | 8131 | chr16 | 76666 | 128610 |  |  | chr16:78772-78773_INS:-->G(4:4:100.0%[F:2:50.0%|R:2:50.0%]call=homozygous:genome_phred=50.0:snp_phred=119.0:max_mapping_qual=47.0:mismatch_id=6471934:utr-mutation:early-termination:A8MVF6:uc002cfs.1:not_dbSNP:BC020392:NP_001034565:NM_001077350:NP_001070818:uc002cfq.1:C16orf35:homozygous:NM_001039476:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:chr16:uc002cfr.1:abnormal-ref-gene-model-lacking-start-codon)
[NAME] | uc009ywj.1 | 4361 | chr11 | 93790114 | 93866688 |  |  | chr11:93865454-93865455_C->T(13:12:92.3%[F:4:30.8%|R:8:61.5%]call=homozygous:genome_phred=68.0:snp_phred=95.0:max_mapping_qual=36.0:genome_max_qual=30.0:genome_ave_qual=30.0:snp_max_qual=63.0:snp_ave_qual=48.3:mismatch_id=2875454:AK095388:uc009ywj.1:chr11:MRE11B:homozygous:intron-splice-site-mutation:is_dbSNP=rs496797)
C15orf57 | uc010bbr.1,uc001zmb.1,uc001zma.1,uc001zmc.1,uc010bbq.1,uc001zly.2 | 359821,90416 | chr15 | 38636111 | 38644544 |  |  | chr15:38644280-38644281_C->T(11:11:100.0%[F:7:63.6%|R:4:36.4%]call=homozygous:genome_phred=92.0:snp_phred=92.0:max_mapping_qual=39.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=48.5:mismatch_id=2737781:NM_001080791:utr-mutation:Q9BV29:NP_443081:NP_001074260:NM_052849:uc001zma.1:intron-splice-site-mutation:C15orf57:uc001zmb.1:Q9BV29-3:homozygous:chr15:AK098781:uc001zly.2:is_dbSNP=rs3803354)
ESSPL | uc010ipn.1,uc003img.1 | 345062 | chr4 | 152417774 | 152432055 |  |  | chr4:152432052-152432053_T->G(7:7:100.0%[F:3:42.9%|R:4:57.1%]call=homozygous:genome_phred=80.0:snp_phred=80.0:max_mapping_qual=55.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=52.3:mismatch_id=1738637:uc003img.1:ESSPL:BC121110:uc010ipn.1:Q7RTY5-2:Q7RTY5-3:NP_899231:coding-nonsynonymous:NM_183375:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:stop-codon-loss:chr4:is_dbSNP=rs2407221)
KIAA1510 | uc002yer.1,uc002yeq.1 | 57642 | chr20 | 61426109 | 61432729 |  |  | chr20:61427931-61427932_INS:-->C(9:6:66.7%[F:5:55.6%|R:1:11.1%]call=homozygous:genome_phred=65.0:snp_phred=319.0:max_mapping_qual=44.0:mismatch_id=10403153:chr20:early-termination:uc002yer.1:uc002yep.1:not_dbSNP:intron-splice-site-mutation:KIAA1510:homozygous:AL390141:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NP_065933:COL20A1:NM_020882)
SLC7A11 | uc010iof.1 | 23657 | chr4 | 139304697 | 139382953 | GO:0006461,GO:0006810,GO:0006865,GO:0015171,GO:0015327,GO:0016020,GO:0016021 | protein complex assembly,transport,amino acid transport,amino acid transmembrane transporter activity,cystine:glutamate antiporter activity,membrane,integral to membrane | chr4:139319821-139319822_C->T(18:17:94.4%[F:16:88.9%|R:1:5.6%]call=homozygous:genome_phred=81.0:snp_phred=110.0:max_mapping_qual=41.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=52.7:mismatch_id=1593736:uc010iof.1:NP_055146:homozygous:coding-synonymous:intron-splice-site-mutation:SLC7A11:Q9UPY5:is_dbSNP=[NAME]:chr4:NM_014331)
SERPINB3 | uc010dqa.1,uc010dqb.1,uc002lji.1 | 6317 | chr18 | 59476552 | 59480094 |  |  | chr18:59477608-59477609_INS:-->T(10:8:80.0%[F:2:20.0%|R:6:60.0%]call=homozygous:genome_phred=28.0:snp_phred=279.0:max_mapping_qual=37.0:mismatch_id=10333411:early-termination:homozygous:AK308383:NP_008850:frameshift:NM_006919:SERPINB3:uc010dqb.1:chr18:is_dbSNP=rs11370831)
BAT2D1 | uc001ghs.1 | 23215 | chr1 | 169721289 | 169829273 |  |  | chr1:169823506-169823507_INS:-->C(12:12:100.0%[F:3:25.0%|R:9:75.0%]call=homozygous:genome_phred=74.0:snp_phred=439.0:max_mapping_qual=41.0:mismatch_id=4245238:BAT2D1:early-termination:NM_015172:not_dbSNP:NP_055987:intron-splice-site-mutation:homozygous:Q9Y520:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:uc001ghs.1:chr1:abnormal-ref-gene-model-lacking-start-codon)
GPR50 | uc010ntg.1 | 9248 | chrX | 150095716 | 150100588 | GO:0001584,GO:0007186,GO:0008502,GO:0016021 | rhodopsin-like receptor activity,G-protein coupled receptor protein signaling pathway,melatonin receptor activity,integral to membrane | chrX:150100215-150100227_DEL:CACCACTGGCCA->------------(9:6:66.7%[F:5:55.6%|R:1:11.1%]call=homozygous:genome_phred=25.0:snp_phred=239.0:max_mapping_qual=25.0:mismatch_id=10742331:uc010ntg.1:NP_004215:Q3ZAR0:chrX:inframe-indel:homozygous:not_dbSNP:GPR50:frameshift:intron-splice-site-mutation:NM_004224)
[NAME] | uc002ghn.1,uc002ghm.1 | 26168 | chr17 | 7408402 | 7410074 |  |  | chr17:7411009-7411010_DEL:A->-(22:22:100.0%[F:12:54.5%|R:10:45.5%]call=homozygous:genome_phred=104.0:snp_phred=839.0:max_mapping_qual=49.0:mismatch_id=7878531:utr-mutation:NP_056485:not_dbSNP:NM_001416:intron-splice-site-mutation:P60842:uc002gho.1:BC032613:[NAME]:homozygous:EIF4A1:NP_001407:abnormal-ref-gene-model-lacking-stop-codon:frameshift:chr17:stop-codon-loss:NM_015670:uc002ghm.1)
KLK5 | uc002pug.1,uc002puf.1,uc002pue.1 | 25818 | chr19 | 56138370 | 56148156 | GO:0003824,GO:0004252,GO:0005576,GO:0005615,GO:0006508,GO:0008233,GO:0008236,GO:0008544,GO:0016787 | catalytic activity,serine-type endopeptidase activity,extracellular region,extracellular space,proteolysis,peptidase activity,serine-type peptidase activity,epidermis development,hydrolase activity | chr19:56147816-56147817_T->G(6:5:83.3%[F:1:16.7%|R:4:66.7%]call=homozygous:[NAME]:snp_phred=74.0:max_mapping_qual=41.0:genome_max_qual=33.0:genome_ave_qual=33.0:snp_max_qual=63.0:snp_ave_qual=47.0:mismatch_id=3909860:utr-mutation:NP_001070959:NM_001077491:uc002pue.1:KLK5:Q9Y337:NP_036559:intron-splice-site-mutation:NM_012427:uc002pug.1:homozygous:chr19:is_dbSNP=rs2659093)
GABRR3 | uc010hpc.1 | 200959 | chr3 | 99188216 | 99236523 |  |  | chr3:99209436-99209437_T->A(44:40:90.9%[F:12:27.3%|R:28:63.6%]call=homozygous:genome_phred=121.0:snp_phred=179.0:[NAME]:genome_max_qual=9.0:genome_ave_qual=4.8:snp_max_qual=63.0:snp_ave_qual=54.8:mismatch_id=1152228:utr-mutation:GABRR3:uc010hpc.1:homozygous:NP_001099050:abnormal-ref-gene-model-lacking-stop-codon:stop-codon-loss:NM_001105580:coding-nonsynonymous:intron-splice-site-mutation:chr3:is_dbSNP=rs832032)
KRBA1 | uc003wgb.1,uc003wfz.1 | 84626 | chr7 | 149051757 | 149062597 |  |  | chr7:149057238-149057239_INS:-->C(18:11:61.1%[F:4:22.2%|R:7:38.9%]call=homozygous:genome_phred=48.0:snp_phred=395.0:max_mapping_qual=41.0:mismatch_id=4557766:uc003wfz.1:chr7:[NAME]:NM_032534:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:intron-splice-site-mutation:NP_115923)
DEFB126 | uc002wcx.1 | 81623 | chr20 | 71251 | 74392 | GO:0005576,GO:0006952,GO:0042742 | extracellular region,defense response,defense response to bacterium | chr20:74310-74312_DEL:CC->--(8:8:100.0%[F:4:50.0%|R:4:50.0%]call=homozygous:genome_phred=62.0:snp_phred=279.0:max_mapping_qual=49.0:mismatch_id=8824230:NP_112193:chr20:NM_030931:homozygous:DEFB126:frameshift:stop-codon-loss:uc002wcx.1:Q9BYW3:is_dbSNP=rs11468374)
GOT1L1 | uc003xkq.1 | 137362 | chr8 | 37910959 | 37916804 |  |  | chr8:37913462-37913463_INS:-->T(20:16:80.0%[F:8:40.0%|R:8:40.0%]call=homozygous:genome_phred=91.0:snp_phred=632.0:max_mapping_qual=44.0:mismatch_id=1190493:early-termination:chr8:NP_689626:GOT1L1:homozygous:uc003xkq.1:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NM_152413:stop-codon-loss:intron-splice-site-mutation)
DKFZp451I0318 | uc002sys.2,uc002syk.1,uc002syj.2,uc002syl.1,uc002syr.1,uc010fii.1,uc002syn.1,uc010fih.1 | 200403 | chr2 | 98225151 | 98233331 |  |  | chr2:98294925-98294926_G->A(12:11:91.7%[F:3:25.0%|R:8:66.7%]call=homozygous:genome_phred=67.0:snp_phred=92.0:max_mapping_qual=46.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=49.6:mismatch_id=1144485:AX747910:Q502W6-7:uc002syr.1:utr-mutation:VWA3B:AL834173:Q53QF1:AX746614:uc002syq.1:coding-nonsynonymous:NM_144992:intron-splice-site-mutation:NP_659429:MGC26733:Q502W6:DKFZp451I0318:uc002syo.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:uc002syp.1:chr2:is_dbSNP=rs7587534)
[NAME] | uc001maw.1 | 390064 | chr11 | 5431294 | 5432233 | GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004984,GO:0005886,GO:0007165,GO:0007186,GO:0007608,GO:0016020,GO:0016021,GO:0050896 | rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,olfactory receptor activity,plasma membrane,signal transduction,G-protein coupled receptor protein signaling pathway,sensory perception of smell,membrane,integral to membrane,response to stimulus | chr11:5432007-5432008_INS:--->CA(18:13:72.2%[F:7:38.9%|R:6:33.3%]call=homozygous:genome_phred=52.0:snp_phred=559.0:[NAME]:[NAME]:early-termination:[NAME]:NP_001004754:chr11:homozygous:Q9H344:NM_001004754:abnormal-ref-gene-model-lacking-stop-codon:frameshift:uc001maw.1:is_dbSNP=rs35301588:abnormal-ref-gene-model-lacking-start-codon)
C21orf62 | uc010gly.1,uc002yqv.1,uc010glz.1,uc002yqw.1 | 56245 | chr21 | 33084854 | 33107876 | GO:0003674,GO:0005575,GO:0008150 | molecular_function,cellular_component,biological_process | chr21:33088057-33088058_INS:-->T(48:39:81.2%[F:27:56.2%|R:12:25.0%]call=homozygous:genome_phred=117.0:snp_phred=1534.0:[NAME]:mismatch_id=9554034:early-termination:uc010gly.1:chr21:uc002yqw.1:uc010glz.1:not_dbSNP:C21orf62:Q9NYP8:NP_062542:BC069709:CCDS42919:BC069779:NM_019596:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:uc002yqv.1:abnormal-ref-gene-model-lacking-start-codon)
AGXT2 | uc003jjf.1,uc003jje.1 | 64902 | chr5 | 35033962 | 35083756 | [NAME] | catalytic activity,mitochondrion,alanine-glyoxylate transaminase activity,transaminase activity,transferase activity,pyridoxal phosphate binding,(R)-3-amino-2-methylpropionate-pyruvate transaminase activity | chr5:35034534-35034535_C->A(25:24:96.0%[F:8:32.0%|R:16:64.0%]call=homozygous:genome_phred=100.0:snp_phred=131.0:max_mapping_qual=45.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=51.1:mismatch_id=465377:chr5:NM_031900:utr-mutation:uc003jjf.1:homozygous:NP_114106:Q9BYV1:[NAME]:intron-splice-site-mutation:uc003jje.1:AK055732:is_dbSNP=rs16899972)
KCNJ16 | uc002jio.1,uc002jiq.1,uc010dff.1,uc002jip.1,uc002jin.1 | 3773 | chr17 | 65639823 | 65641080 | GO:0005216,GO:0005242,GO:0005244,GO:0006810,GO:0006811,GO:0006813,GO:0016020,GO:0016021,GO:0030955 | ion channel activity,inward rectifier potassium channel activity,voltage-gated ion channel activity,transport,ion transport,potassium ion transport,membrane,integral to membrane,potassium ion binding | chr17:65608502-65608503_A->G(22:19:86.4%[F:11:50.0%|R:8:36.4%]call=homozygous:genome_phred=73.0:snp_phred=116.0:[NAME]:[NAME]:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=50.2:mismatch_id=3642996:KCNJ16:NM_018658:uc002jin.1:Q9NPI9:intron-splice-site-mutation:NP_733938:NP_733937:NM_170741:homozygous:chr17:NP_061128:uc002jio.1:is_dbSNP=rs7226242)
KIAA1641 | [NAME] | 57730,n/a | chr2 | 97487692 | 97494947 |  |  | chr2:97270818-97270819_INS:-->A(13:7:53.8%[F:1:7.7%|R:6:46.2%]call=homozygous:genome_phred=42.0:snp_phred=296.0:max_mapping_qual=59.0:mismatch_id=2892763:early-termination:A6QL64-2:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:[NAME]:frameshift:uc002sxr.1:chr2:BC146835:abnormal-ref-gene-model-lacking-start-codon)
ETV1 | uc003ssw.2,uc003ssv.2,uc010ktv.1,uc003ssy.1,uc010ktw.1,uc003ssx.1,uc003sst.1,uc003ssu.1 | 2115 | chr7 | 13912579 | 13992419 |  |  | chr7:13995232-13995233_DEL:A->-(34:29:85.3%[F:18:52.9%|R:11:32.4%]call=homozygous:genome_phred=99.0:snp_phred=1170.0:max_mapping_qual=44.0:mismatch_id=434570:utr-mutation:early-termination:Q59GA7:AB209202:uc003ssw.2:NP_004947:chr7:uc003ssu.1:homozygous:ETV1:frameshift:NM_004956:is_dbSNP=rs5882426:abnormal-ref-gene-model-lacking-start-codon)
GRIA3 | uc004etr.2,uc004etq.2,uc010nqs.1,uc004ets.2 | 2892 | chrX | 122145776 | 122166212 | GO:0004872 | receptor activity | chrX:122164281-122164282_INS:-->G(7:4:57.1%[F:3:42.9%|R:1:14.3%]call=homozygous:genome_phred=59.0:snp_phred=207.0:max_mapping_qual=40.0:mismatch_id=10673288:[NAME]:early-termination:chrX:homozygous:not_dbSNP:uc010nqs.1:frameshift:BC032004:GRIA3)
USP28 | uc001poh.1,uc001pog.1,uc001poj.2 | 57646 | chr11 | 113189689 | 113251466 | GO:0004221,GO:0006511 | ubiquitin thiolesterase activity,ubiquitin-dependent protein catabolic process | chr11:113179133-113179134_INS:-->C(15:12:80.0%[F:7:46.7%|R:5:33.3%]call=homozygous:genome_phred=83.0:snp_phred=479.0:max_mapping_qual=40.0:mismatch_id=8064156:uc001pog.1:early-termination:chr11:Q96SV4:not_dbSNP:AK097623:uc001poi.1:Q96RU2:USP28:NM_020886:NP_065937:AB040948:uc001poh.1:KIAA1515:homozygous:frameshift)
C14orf159 variant protein | uc001xyz.2 | 80017 | chr14 | 90650109 | 90761456 |  |  | chr14:90706284-90706285_C->T(9:9:100.0%[F:5:55.6%|R:4:44.4%]call=homozygous:genome_phred=86.0:snp_phred=86.0:max_mapping_qual=45.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=51.0:mismatch_id=3273915:uc001xzb.2:uc001xza.2:uc001xyw.2:[NAME]:NP_079228:uc001xze.2:uc001xyy.2:uc001xyv.2:BX247989:uc001xyx.2:homozygous:AK091394:Q7Z3D6:is_dbSNP=rs4900072:Q7Z3D6-5:Q8NB88:AK123532:BX248782:coding-nonsynonymous:intron-splice-site-mutation:uc001xyz.2:Q7Z3D6-2:Q7Z3D6-3:NP_001095839:NP_001095837:C14orf159:NP_001095838:NP_001095836:chr14:abnormal-ref-gene-model-lacking-stop-codon:NM_001102366:NM_001102367:NM_024952:NM_001102368:NM_001102369:uc001xzc.2)
LOC389458 | uc010kst.1 | 389458 | chr7 | 5078263 | 5079380 | GO:0003676,GO:0005622,GO:0006355 | nucleic acid binding,intracellular,regulation of transcription | chr7:5078355-5078356_T->C(8:7:87.5%[F:3:37.5%|R:4:50.0%]call=homozygous:genome_phred=64.0:snp_phred=80.0:max_mapping_qual=42.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=42.3:mismatch_id=70528:A6NC62:utr-mutation:chr7:homozygous:LOC389458:intron-splice-site-mutation:uc010kst.1:NR_015343:is_dbSNP=rs62444320)
REC8 | uc001wms.1,uc001wmr.1 | 9985 | chr14 | 23711073 | 23719303 | GO:0000228,GO:0000800,GO:0005515,GO:0005634,GO:0007059,GO:0007062,GO:0007126,GO:0007131,GO:0007283 | nuclear chromosome,lateral element,protein binding,nucleus,chromosome segregation,sister chromatid cohesion,meiosis,meiotic recombination,spermatogenesis | chr14:23716246-23716247_INS:---->GAA(9:7:77.8%[F:2:22.2%|R:5:55.6%]call=homozygous:genome_phred=65.0:snp_phred=279.0:max_mapping_qual=32.0:mismatch_id=6167812:uc001wmr.1:NM_005132:REC8:NP_005123:homozygous:NM_001048205:NP_001041670:chr14:O95072:uc001wms.1:frameshift:is_dbSNP=rs10690822)
AL035288 | uc001azn.1 | 284729 | chr1 | 16890299 | 16919239 |  |  | chr1:16895538-16895539_C->A(13:10:76.9%[F:3:23.1%|R:7:53.8%]call=homozygous:genome_phred=57.0:snp_phred=89.0:max_mapping_qual=33.0:genome_max_qual=30.0:genome_ave_qual=10.7:snp_max_qual=63.0:snp_ave_qual=46.9:mismatch_id=207280:early-termination:O95559:uc001azn.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:chr1:coding-nonsynonymous:AL035288:is_dbSNP=rs557690:abnormal-ref-gene-model-lacking-start-codon)
KIAA1735 | uc001pmn.1 | 85458 | chr11 | 111358151 | 111398517 |  |  | chr11:111358316-111358317_INS:-->C(6:4:66.7%[F:1:16.7%|R:3:50.0%]call=homozygous:genome_phred=56.0:snp_phred=159.0:max_mapping_qual=45.0:mismatch_id=8022956:uc001pmn.1:utr-mutation:DIXDC1:KIAA1735:early-termination:NP_219493:chr11:not_dbSNP:NM_001037954:uc001pmm.1:NP_001033043:uc001pml.1:NM_033425:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:AK055899)
MYOM3 | uc001bim.2,uc001bin.2,uc001bio.2,uc001bil.2,uc001bip.1 | 127294 | chr1 | 24280625 | 24307516 |  |  | chr1:24292082-24292083_A->G(5:5:100.0%[F:2:40.0%|R:3:60.0%]call=homozygous:genome_phred=74.0:snp_phred=74.0:max_mapping_qual=44.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=62.2:mismatch_id=288883:Q5VTT5:uc001bio.2:uc001bim.2:uc001bip.1:AK125972:A6NIU4:coding-nonsynonymous:[NAME]:[NAME]:AK128233:homozygous:NM_152372:NP_689585:uc001bin.2:start-codon-loss:chr1:Q5VTT5-2:is_dbSNP=rs4233050:BC067101)
PIGN | uc002lij.2,uc002lii.2 | 23556 | chr18 | 57862437 | 58005269 |  |  | chr18:57956511-57956512_T->C(14:14:100.0%[F:9:64.3%|R:5:35.7%]call=homozygous:genome_phred=101.0:snp_phred=101.0:max_mapping_qual=50.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=52.1:mismatch_id=3961153:NM_012327:uc002lii.2:homozygous:NM_176787:NP_036459:uc002lij.2:NP_789744:chr18:intron-splice-site-mutation:PIGN:is_dbSNP=rs9959632)
AOAH | uc010kxf.1,uc003tfh.2 | 313 | chr7 | 36519132 | 36730678 |  |  | chr7:36519315-36519316_INS:-->T(14:10:71.4%[F:4:28.6%|R:6:42.9%]call=homozygous:genome_phred=73.0:snp_phred=472.0:max_mapping_qual=45.0:mismatch_id=1134736:AK308215:utr-mutation:not_dbSNP:P28039:NP_001628:NM_001637:uc010kxf.1:uc003tfh.2:chr7:AOAH:homozygous:frameshift:stop-codon-loss) | chr7:36519254-36519255_INS:-->T(25:21:84.0%[F:11:44.0%|R:10:40.0%]call=homozygous:genome_phred=113.0:snp_phred=799.0:max_mapping_qual=51.0:mismatch_id=1134733:AK308215:utr-mutation:not_dbSNP:P28039:NP_001628:NM_001637:uc010kxf.1:uc003tfh.2:chr7:AOAH:homozygous:frameshift:stop-codon-loss)
SYNM | uc002bup.1,uc002buo.1 | 23336 | chr15 | 97462808 | 97493323 |  |  | chr15:97471322-97471323_T->C(10:10:100.0%[F:2:20.0%|R:8:80.0%]call=homozygous:genome_phred=89.0:snp_phred=89.0:max_mapping_qual=52.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=50.2:mismatch_id=3398058:uc002bup.1:NM_015286:uc002buo.1:coding-nonsynonymous:homozygous:chr15:NM_145728:abnormal-ref-gene-model-lacking-stop-codon:SYNM:stop-codon-loss:NP_663780:NP_056101:is_dbSNP=rs2305445)
CCDC108 | uc010fwa.1,uc002vjm.2,uc002vjl.1,uc002vjn.1 | 255101 | chr2 | 219599515 | 219603174 |  |  | chr2:219611501-219611502_T->G(9:9:100.0%[F:2:22.2%|R:7:77.8%]call=homozygous:genome_phred=86.0:snp_phred=86.0:max_mapping_qual=34.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=52.6:mismatch_id=2615559:NP_689602:utr-mutation:Q6ZU64:uc002vjn.1:coding-nonsynonymous:NP_919278:NM_194302:Q4ZFW9:homozygous:abnormal-ref-gene-model-lacking-stop-codon:uc002vjl.1:start-codon-loss:NM_152389:chr2:is_dbSNP=[NAME]:CCDC108)
DNAJC28 | uc002yrv.1,uc002yrw.1,uc010gmc.1 | 54943 | chr21 | 33782107 | 33785893 | GO:0031072 | heat shock protein binding | chr21:33782619-33782624_DEL:AATTA->-----(14:11:78.6%[F:2:14.3%|R:9:64.3%]call=homozygous:genome_phred=80.0:snp_phred=479.0:max_mapping_qual=42.0:mismatch_id=9575787:uc010gmc.1:NP_060303:uc002yrv.1:early-termination:Q9NX36:chr21:not_dbSNP:NP_001035282:NM_001040192:DNAJC28:NM_017833:uc002yrw.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:CCDS13626:frameshift)
CYFIP2 | uc003lwt.1,uc003lwr.1,uc003lwq.1,uc003lws.1 | 26999 | chr5 | 156656258 | 156755184 |  |  | chr5:156654441-156654442_INS:-->C(21:12:57.1%[F:11:52.4%|R:1:4.8%]call=homozygous:genome_phred=50.0:snp_phred=437.0:[NAME]:[NAME]:NM_001037333:uc003lws.1:utr-mutation:uc003lwq.1:early-termination:uc003lwr.1:NP_001032410:NM_014376:KIAA1168:not_dbSNP:intron-splice-site-mutation:CR596909:chr5:uc003lwp.1:homozygous:Q9NSN1:CYFIP2:NP_055191:frameshift:NP_001032409:[NAME]:abnormal-ref-gene-model-lacking-start-codon)
ATXN2L | uc002drc.1,uc002drb.1,uc010byl.1,uc002dqz.1,uc002drg.1,uc002dra.1,uc002dre.1,uc002dqy.1 | 11273 | chr16 | 28741914 | 28752176 |  |  | chr16:28754366-28754367_G->A(5:5:100.0%[F:4:80.0%|R:1:20.0%]call=homozygous:genome_phred=74.0:snp_phred=74.0:max_mapping_qual=37.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=62.0:snp_ave_qual=49.4:mismatch_id=3167101:uc002drg.1:NP_009176:ATXN2L:homozygous:BC010239:chr16:NM_007245:intron-splice-site-mutation:is_dbSNP=rs55719896)
LTF | uc003cpq.1,uc003fzr.1,uc003cpr.1,uc010hjh.1 | 4057,n/a | chr3_random | 730793 | 741263 |  |  | chr3:46476288-46476289_INS:---->CTT(17:8:47.1%[F:2:11.8%|R:6:35.3%]call=homozygous:genome_phred=88.0:snp_phred=438.0:max_mapping_qual=47.0:mismatch_id=1481142:NP_002334:P02788:uc003cpr.1:AK093852:AY360320:homozygous:LTF:frameshift:uc010hjh.1:uc003cpq.1:NM_002343:chr3:is_dbSNP=rs10662431)
TGOLN2 | uc002spc.1,uc010fgd.1,uc002soz.1,uc002spb.1 | 10618 | chr2 | 85402529 | 85408885 |  |  | chr2:85403378-85403379_A->G(12:12:100.0%[F:8:66.7%|R:4:33.3%]call=homozygous:genome_phred=95.0:snp_phred=95.0:max_mapping_qual=38.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=57.0:mismatch_id=1061202:TGOLN2:utr-mutation:O43493-2:uc010fgd.1:AF027516:homozygous:stop-codon-loss:coding-nonsynonymous:NM_006464:chr2:is_dbSNP=rs4240199:NP_006455)
CASP12 | uc001pht.1,uc001phw.1 | 120329 | chr11 | 104266306 | 104274607 |  |  | chr11:104266309-104266310_T->C(11:10:90.9%[F:6:54.5%|R:4:36.4%]call=homozygous:genome_phred=66.0:snp_phred=89.0:max_mapping_qual=53.0:genome_max_qual=4.0:genome_ave_qual=4.0:snp_max_qual=63.0:snp_ave_qual=47.5:mismatch_id=2983306:UNQ9415:utr-mutation:chr11:uc001phv.1:NR_000035:AF464193:uc001phu.1:AF486845:AF464194:coding-nonsynonymous:intron-splice-site-mutation:uc001pht.1:AF486844:uc001phw.1:uc009yxf.1:CASP12:homozygous:abnormal-ref-gene-model-lacking-stop-codon:Q6UXS9-2:Q6UXS9-3:is_dbSNP=rs513131) | chr11:104268326-104268327_G->A(10:10:100.0%[F:8:80.0%|R:2:20.0%]call=homozygous:genome_phred=89.0:snp_phred=89.0:max_mapping_qual=50.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=59.1:mismatch_id=2983328:UNQ9415:early-termination:chr11:uc001phv.1:NR_000035:AF464193:uc001phu.1:AF486845:AF464194:coding-nonsynonymous:uc001pht.1:AF486844:uc001phw.1:uc009yxf.1:homozygous:CASP12:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:Q6UXS9-2:Q6UXS9-3:is_dbSNP=rs497116)
LRRTM3 | uc001jmz.1,uc001jmy.2 | 347731 | chr10 | 68355797 | 68530873 | GO:0005515,GO:0016020,GO:0016021 | protein binding,membrane,integral to membrane | chr10:68355934-68355935_G->C(18:16:88.9%[F:7:38.9%|R:9:50.0%]call=homozygous:genome_phred=71.0:snp_phred=107.0:max_mapping_qual=41.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=48.9:mismatch_id=2595151:utr-mutation:early-termination:uc001jmz.1:Q86VH5:chr10:AK308726:NM_178011:coding-nonsynonymous:uc001jmy.2:CTNNA3:Q86VH5-2:LRRTM3:homozygous:NP_821079:uc009xpo.1:AY358315:is_dbSNP=rs7902006)
[NAME] | uc001xgc.1,uc010apu.1 | 122876 | chr14 | 62849394 | 62854316 |  |  | chr14:62854160-62854161_INS:-->G(18:16:88.9%[F:3:16.7%|R:13:72.2%]call=homozygous:genome_phred=91.0:snp_phred=638.0:max_mapping_qual=45.0:mismatch_id=7494714:early-termination:NM_145171:BC133702:homozygous:abnormal-ref-gene-model-lacking-stop-codon:chr14:uc001xgc.1:NP_660154:frameshift:GPHB5:stop-codon-loss:uc010apu.1:is_dbSNP=rs11382440)
MAP3K1 | uc003jqw.2 | 4214 | chr5 | 56146656 | 56227735 |  |  | chr5:56213605-56213608_DEL:CAA->---(30:8:26.7%[F:4:13.3%|R:4:13.3%]call=homozygous:genome_phred=88.0:snp_phred=319.0:max_mapping_qual=56.0:mismatch_id=1671602:chr5:MAP3K1:homozygous:NP_005912:NM_005921:uc003jqw.2:frameshift:is_dbSNP=[NAME])
SLC22A10 | uc009yor.1 | 387775 | chr11 | 62814005 | 62835822 | GO:0005215,GO:0006810,GO:0016020,GO:0016021 | transporter activity,transport,membrane,integral to membrane | chr11:62814500-62814501_G->A(23:21:91.3%[F:11:47.8%|R:10:43.5%]call=homozygous:genome_phred=99.0:snp_phred=122.0:max_mapping_qual=45.0:genome_max_qual=13.0:genome_ave_qual=7.0:snp_max_qual=63.0:snp_ave_qual=56.4:[NAME]:early-termination:NP_001034841:chr11:homozygous:NM_001039752:abnormal-ref-gene-model-lacking-stop-codon:SLC22A10:[NAME]:coding-nonsynonymous:uc009yor.1:is_dbSNP=rs1790218)
KIAA1019 | uc002ysf.1,uc002ysd.2 | 6651 | chr21 | 33837219 | 33871682 | GO:0003676,GO:0003723,GO:0003725,GO:0005622 | nucleic acid binding,RNA binding,double-stranded RNA binding,intracellular | chr21:33870566-33870567_DEL:A->-(7:7:100.0%[F:1:14.3%|R:6:85.7%]call=homozygous:genome_phred=59.0:snp_phred=239.0:max_mapping_qual=60.0:mismatch_id=9578190:utr-mutation:P18583:KIAA1019:uc002ysf.1:Q6ZRV7:chr21:NM_138927:NP_620305:SON:uc002yse.1:homozygous:BC046101:frameshift:is_dbSNP=rs34373121) | chr21:33870554-33870555_INS:-->A(13:6:46.2%[F:1:7.7%|R:5:38.5%]call=homozygous:genome_phred=61.0:snp_phred=303.0:max_mapping_qual=54.0:mismatch_id=9578181:utr-mutation:P18583:KIAA1019:uc002ysf.1:Q6ZRV7:chr21:not_dbSNP:NM_138927:NP_620305:SON:uc002yse.1:homozygous:BC046101:frameshift)
CTNNA3 | uc009xpn.1,uc001jmw.2,uc001jna.2,uc001jmx.2,uc009xpo.1 | 29119 | chr10 | 68355349 | 69095422 |  |  | chr10:68355934-68355935_G->C(18:16:88.9%[F:7:38.9%|R:9:50.0%]call=homozygous:genome_phred=71.0:snp_phred=107.0:max_mapping_qual=41.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=48.9:mismatch_id=2595151:utr-mutation:early-termination:uc001jmz.1:Q86VH5:chr10:AK308726:NM_178011:coding-nonsynonymous:uc001jmy.2:CTNNA3:Q86VH5-2:LRRTM3:homozygous:NP_821079:uc009xpo.1:AY358315:is_dbSNP=rs7902006)
AP3B2 | uc010bmp.1,uc002biw.1,uc002bix.1 | 8120 | chr15 | 81125087 | 81128482 |  |  | chr15:81145550-81145551_INS:-->C(11:10:90.9%[F:2:18.2%|R:8:72.7%]call=homozygous:genome_phred=55.0:snp_phred=343.0:max_mapping_qual=43.0:mismatch_id=9380339:utr-mutation:early-termination:NP_004635:uc002biw.1:uc002bix.1:intron-splice-site-mutation:homozygous:NM_004644:AP3B2:chr15:abnormal-ref-gene-model-lacking-stop-codon:frameshift:AK097827:stop-codon-loss:is_dbSNP=rs5814126)
MGC26733 | uc002syp.1 | 200403 | chr2 | 98175792 | 98294927 |  |  | chr2:98294925-98294926_G->A(12:11:91.7%[F:3:25.0%|R:8:66.7%]call=homozygous:genome_phred=67.0:snp_phred=92.0:max_mapping_qual=46.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=49.6:mismatch_id=1144485:AX747910:Q502W6-7:uc002syr.1:utr-mutation:VWA3B:AL834173:Q53QF1:AX746614:uc002syq.1:coding-nonsynonymous:NM_144992:intron-splice-site-mutation:NP_659429:MGC26733:Q502W6:DKFZp451I0318:uc002syo.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:uc002syp.1:chr2:is_dbSNP=rs7587534)
GCKR | uc002rky.1,uc010ezd.1 | 2646 | chr2 | 27573209 | 27600054 | GO:0016301,GO:0030234 | kinase activity,enzyme regulator activity | chr2:27584443-27584444_T->C(13:10:76.9%[F:1:7.7%|R:9:69.2%]call=homozygous:genome_phred=67.0:snp_phred=89.0:max_mapping_qual=40.0:genome_max_qual=19.0:genome_ave_qual=7.0:snp_max_qual=63.0:snp_ave_qual=54.6:mismatch_id=391112:uc002rky.1:NP_001477:NM_001486:coding-nonsynonymous:GCKR:uc010ezd.1:homozygous:AK291846:abnormal-ref-gene-model-lacking-stop-codon:stop-codon-loss:chr2:A8K731:is_dbSNP=rs1260326:Q14397:abnormal-ref-gene-model-lacking-start-codon)
KIAA0955 | uc010elu.1,uc002pid.1,uc002pij.1 | 22900 | chr19 | 53427521 | 53444916 |  |  | chr19:53429517-53429518_A->T(10:9:90.0%[F:4:40.0%|R:5:50.0%]call=homozygous:genome_phred=65.0:snp_phred=86.0:max_mapping_qual=46.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=50.6:mismatch_id=3890207:utr-mutation:uc002pif.2:Q9Y2G2-2:Q9Y2G2-3:NM_014959:AF511652:uc002pie.2:[NAME]:BC056891:homozygous:BC045539:is_dbSNP=rs2043211:BC041697:uc010elu.1:early-termination:CARD8:uc010elt.1:uc002pih.2:uc002pig.2:coding-nonsynonymous:Q6MZI8:Q4G0N6:BX648568:Q9Y2G2:NP_055774:chr19:AK311079:uc002pii.2)
ACHE | uc003uxj.1,uc003uxf.1,uc003uxe.1,uc003uxi.1,uc003uxh.1,uc003uxg.1,uc003uxd.1 | 43 | chr7 | 100328721 | 100332475 |  |  | chr7:100332158-100332159_INS:-->C(10:5:50.0%[F:3:30.0%|R:2:20.0%]call=homozygous:genome_phred=33.0:snp_phred=244.0:max_mapping_qual=37.0:mismatch_id=2911449:early-termination:ACHE:chr7:AY389977:NP_000656:homozygous:uc003uxj.1:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NM_000665)
OR2T11 | uc001ier.1 | 127077 | chr1 | 246856101 | 246857052 | GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004984,GO:0005886,GO:0007165,GO:0007186,GO:0007608,GO:0016020,GO:0016021,GO:0050896 | rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,olfactory receptor activity,plasma membrane,signal transduction,G-protein coupled receptor protein signaling pathway,sensory perception of smell,membrane,integral to membrane,response to stimulus | chr1:246856792-246856793_INS:--->TT(25:19:76.0%[F:12:48.0%|R:7:28.0%]call=homozygous:genome_phred=105.0:snp_phred=871.0:max_mapping_qual=38.0:mismatch_id=6458741:uc001ier.1:early-termination:Q8NH01:OR2T11:NP_001001964:homozygous:not_dbSNP:frameshift:chr1:NM_001001964)
GSDMB | uc010cwm.1,uc002hth.1,uc010cwl.1,uc010cwj.1,uc002htg.1,uc010cwk.1,uc010cwi.1 | 55876 | chr17 | 35314373 | 35327109 |  |  | chr17:35317994-35317995_T->C(13:8:61.5%[F:4:30.8%|R:4:30.8%]call=homozygous:genome_phred=57.0:snp_phred=83.0:max_mapping_qual=44.0:genome_max_qual=17.0:genome_ave_qual=5.6:snp_max_qual=57.0:snp_ave_qual=48.4:mismatch_id=3281934:EU832569:utr-mutation:NM_001042471:uc010cwj.1:BX538068:NM_018530:GSDMB:NP_001035936:Q8TAX9-5:Q8TAX9-4:intron-splice-site-mutation:homozygous:NP_061000:coding-synonymous:chr17:uc010cwi.1:is_dbSNP=rs11078928)
[NAME] | uc003ukc.1,uc003ukd.1,uc003uka.1,uc003ukb.1,uc010len.1,uc003ujy.2,uc003ujz.1 | 261729 | chr7 | 89678935 | 89704928 | GO:0003824,GO:0005488,GO:0005506,GO:0006118,GO:0008152,GO:0016021,GO:0016491,GO:0050660 | catalytic activity,binding,iron ion binding,electron transport,metabolic process,integral to membrane,oxidoreductase activity,FAD binding | chr7:89635079-89635080_G->T(21:17:81.0%[F:9:42.9%|R:8:38.1%]call=homozygous:genome_phred=69.0:snp_phred=110.0:max_mapping_qual=44.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=49.1:mismatch_id=1017029:NM_001040666:Q6YPB1:early-termination:chr7:NP_001035756:homozygous:DQ656062:abnormal-ref-gene-model-lacking-stop-codon:uc003ujy.2:[NAME]:coding-nonsynonymous:is_dbSNP=rs259136)
KIAA1168 | uc003lwp.1,uc003lwv.1 | 26999 | chr5 | 156742841 | 156755184 |  |  | chr5:156654441-156654442_INS:-->C(21:12:57.1%[F:11:52.4%|R:1:4.8%]call=homozygous:genome_phred=50.0:snp_phred=437.0:[NAME]:[NAME]:NM_001037333:uc003lws.1:utr-mutation:uc003lwq.1:early-termination:uc003lwr.1:NP_001032410:NM_014376:KIAA1168:not_dbSNP:intron-splice-site-mutation:CR596909:chr5:uc003lwp.1:homozygous:Q9NSN1:CYFIP2:NP_055191:frameshift:NP_001032409:[NAME]:abnormal-ref-gene-model-lacking-start-codon)
RPS6KC1 | uc001hkc.1,uc001hkd.1 | 26750 | chr1 | 211291275 | 211513431 |  |  | chr1:211481659-211481660_C->T(34:30:88.2%[F:13:38.2%|R:17:50.0%]call=homozygous:genome_phred=98.0:snp_phred=149.0:max_mapping_qual=46.0:genome_max_qual=12.0:genome_ave_qual=3.8:snp_max_qual=63.0:snp_ave_qual=56.2:mismatch_id=2074104:early-termination:Q96S38:BX647303:NP_001129610:B1APS8:not_dbSNP:uc001hkc.1:RPS6KC1:coding-nonsynonymous:NP_036556:uc001hke.1:homozygous:AK122921:NM_012424:chr1:uc001hkd.1:NM_001136138:RPK118)
CYP4F8 | uc002nbi.1 | 11283 | chr19 | 15587028 | 15601447 |  |  | chr19:15591498-15591499_INS:-->C(16:14:87.5%[F:8:50.0%|R:6:37.5%]call=homozygous:genome_phred=46.0:snp_phred=479.0:max_mapping_qual=38.0:mismatch_id=9170570:CYP4F8:early-termination:NP_009184:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:NM_007253:chr19:intron-splice-site-mutation:is_dbSNP=rs55848814:uc002nbi.1)
TAAR9 | uc003qdh.1 | 134860 | chr6 | 132901119 | 132902168 |  |  | chr6:132901301-132901302_T->A(24:21:87.5%[F:16:66.7%|R:5:20.8%]call=homozygous:genome_phred=77.0:snp_phred=122.0:max_mapping_qual=49.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=54.0:mismatch_id=1393536:TAAR9:chr6:NP_778227:uc003qdh.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:NM_175057:stop-codon-loss:coding-nonsynonymous:intron-splice-site-mutation:is_dbSNP=rs2842899)
PAX8 | uc010fku.1,uc002tjk.1,uc002tjl.1,uc002tjn.1,uc002tjj.1,uc002tjo.1,uc002tjm.1 | 7849 | chr2 | 113715124 | 113752968 |  |  | chr2:113710930-113710931_G->A(12:10:83.3%[F:3:25.0%|R:7:58.3%]call=homozygous:genome_phred=65.0:snp_phred=89.0:max_mapping_qual=40.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=52.6:mismatch_id=1290093:early-termination:NM_003466:PAX8:homozygous:AK023855:coding-nonsynonymous:chr2:uc002tjo.1:NP_003457:is_dbSNP=rs3738913)
EPS8R3 | uc009wfn.1 | 79574 | chr1 | 110095677 | 110108087 |  |  | [NAME]=homozygous:genome_phred=46.0:snp_phred=89.0:max_mapping_qual=41.0:genome_max_qual=36.0:genome_ave_qual=25.5:snp_max_qual=63.0:snp_ave_qual=53.2:mismatch_id=1241026:EPS8R3:NP_620641:AK310979:Q8TE67-2:NM_133181:uc001dyr.1:Q8TE67-3:coding-nonsynonymous:NP_573444:AK307932:uc001dys.1:uc001dyq.1:homozygous:uc009wfm.1:start-codon-loss:EPS8L3:NM_024526:chr1:uc009wfn.1:NM_139053:is_dbSNP=rs17598321:Q8TE67:NP_078802:abnormal-ref-gene-model-lacking-start-codon)
ACTN2 | uc001hyh.2,uc009xgi.1,uc001hyg.2,uc001hyf.2 | 88 | chr1 | 234916392 | 234994181 |  |  | chr1:234966522-234966523_DEL:C->-(30:26:86.7%[F:13:43.3%|R:13:43.3%]call=homozygous:genome_phred=88.0:snp_phred=1007.0:max_mapping_qual=45.0:mismatch_id=6092941:early-termination:uc001hyg.2:AB209521:homozygous:frameshift:ACTN2:chr1:is_dbSNP=rs35111653)
ATG9B | uc010lpv.1 | 285973 | chr7 | 150340236 | 150352519 |  |  | chr7:150344835-150344836_INS:-->C(13:6:46.2%[F:4:30.8%|R:2:15.4%]call=homozygous:genome_phred=77.0:snp_phred=439.0:max_mapping_qual=39.0:mismatch_id=4596750:early-termination:chr7:ATG9B:NM_173681:NP_775952:homozygous:abnormal-ref-gene-model-lacking-stop-codon:uc010lpv.1:frameshift:stop-codon-loss:A8MT76:is_dbSNP=rs11393607)
HSH2D | uc010ead.1,uc002ndp.2,uc002ndr.1 | 84941 | chr19 | 16115441 | 16130377 |  |  | chr19:16129207-16129208_DEL:A->-(11:7:63.6%[F:2:18.2%|R:5:45.5%]call=homozygous:genome_phred=39.0:snp_phred=247.0:max_mapping_qual=42.0:mismatch_id=9186780:early-termination:uc002ndr.1:NP_116244:uc002ndp.2:intron-splice-site-mutation:HSH2D:AK131222:homozygous:NM_032855:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:chr19:is_dbSNP=rs5827321:abnormal-ref-gene-model-lacking-start-codon)
SCAMP1 | uc003kfn.1,uc010jaa.1,uc003kfm.1,uc003kfl.1 | 9522 | chr5 | 77692094 | 77812318 |  |  | chr5:77781609-77781610_INS:-->A(12:12:100.0%[F:4:33.3%|R:8:66.7%]call=homozygous:genome_phred=74.0:snp_phred=439.0:[NAME]:mismatch_id=2300186:SCAMP1:utr-mutation:early-termination:not_dbSNP:uc003kfl.1:chr5:NP_004857:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:abnormal-ref-gene-model-lacking-start-codon:NM_004866)
OR4X1 | uc001ngt.1 | 390113 | chr11 | 48241988 | 48242906 | GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004984,GO:0005886,GO:0007165,GO:0007186,GO:0007608,GO:0016020,GO:0016021,GO:0050896 | rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,olfactory receptor activity,plasma membrane,signal transduction,G-protein coupled receptor protein signaling pathway,sensory perception of smell,membrane,integral to membrane,response to stimulus | chr11:48242557-48242560_DEL:CTT->---(11:7:63.6%[F:5:45.5%|R:2:18.2%]call=homozygous:genome_phred=71.0:snp_phred=276.0:max_mapping_qual=41.0:mismatch_id=6456107:OR4X1:NP_001004726:chr11:uc001ngt.1:Q8NH49:homozygous:not_dbSNP:frameshift:NM_001004726) | chr11:48242806-48242807_T->A(37:34:91.9%[F:19:51.4%|R:15:40.5%]call=homozygous:genome_phred=120.0:snp_phred=161.0:max_mapping_qual=43.0:genome_max_qual=16.0:genome_ave_qual=6.0:snp_max_qual=63.0:snp_ave_qual=46.8:mismatch_id=2457773:OR4X1:early-termination:NP_001004726:chr11:Q8NH49:uc001ngt.1:homozygous:NM_001004726:coding-nonsynonymous:is_dbSNP=rs10838851)
KRTAP19-6 | uc002yok.1 | 337973 | chr21 | 30835724 | 30836052 | GO:0005882 | intermediate filament | chr21:30835852-30835853_DEL:G->-(19:19:100.0%[F:10:52.6%|R:9:47.4%]call=homozygous:genome_phred=95.0:snp_phred=709.0:max_mapping_qual=40.0:mismatch_id=9475038:NP_853643:chr21:homozygous:Q3LI71:uc002yok.1:frameshift:NM_181612:stop-codon-loss:KRTAP19-6:is_dbSNP=rs5843453,rs56909176)
MAD2L2 | uc001asp.1,uc001asq.2,uc009vnc.1 | 10459 | chr1 | 11657123 | 11674265 | GO:0005515,GO:0007049,GO:0007067,GO:0007094,GO:0051301 | protein binding,cell cycle,mitosis,mitotic cell cycle spindle assembly checkpoint,cell division | chr1:11664660-11664661_C->T(8:5:62.5%[F:4:50.0%|R:1:12.5%]call=homozygous:genome_phred=47.0:snp_phred=74.0:max_mapping_qual=47.0:genome_max_qual=28.0:genome_ave_qual=10.3:snp_max_qual=53.0:snp_ave_qual=39.0:mismatch_id=147653:AK094316:NM_006341:[NAME]:homozygous:Q9UI95:MAD2L2:chr1:intron-splice-site-mutation:is_dbSNP=rs2233004:uc001asq.2)
EFHC2 | uc004dgb.2 | 80258 | chrX | 43892071 | 44087867 |  |  | chrX:44087834-44087835_INS:-->C(9:7:77.8%[F:4:44.4%|R:3:33.3%]call=homozygous:genome_phred=56.0:snp_phred=270.0:max_mapping_qual=30.0:mismatch_id=10467678:utr-mutation:NP_079460:early-termination:NM_025184:uc004dgb.2:EFHC2:chrX:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:is_dbSNP=rs5902346:abnormal-ref-gene-model-lacking-start-codon)
TRIM5 | uc001mbo.1,uc001mbq.1,uc001mbm.1,uc001mbl.1,uc001mbn.1,uc001mbp.1 | 85363 | chr11 | 5656009 | 5916425 | GO:0005515,GO:0005622,GO:0008270,GO:0046872 | protein binding,intracellular,zinc ion binding,metal ion binding | chr11:5656915-5656916_T->C(25:21:84.0%[F:14:56.0%|R:7:28.0%]call=homozygous:genome_phred=72.0:snp_phred=122.0:max_mapping_qual=49.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=45.7:mismatch_id=1906500:A8WFA8:NM_033092:NM_033093:NP_149023:TRIM5:Q05CU3:homozygous:uc001mbn.1:is_dbSNP=rs3740995:uc001mbo.1:CR616862:NM_033034:uc001mbp.1:chr11:coding-nonsynonymous:uc001mbm.1:NP_149083:NP_149084:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:stop-codon-loss:BC020770:Q9C035-3:uc001mbq.1:Q9C035-4:abnormal-ref-gene-model-lacking-start-codon)
OGFR | uc002ydj.1,uc002ydk.1 | 11054 | chr20 | 60906621 | 60915797 | GO:0004872,GO:0016020 | receptor activity,membrane | chr20:60914080-60914081_G->A(14:14:100.0%[F:12:85.7%|R:2:14.3%]call=homozygous:genome_phred=101.0:snp_phred=101.0:max_mapping_qual=41.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=55.9:mismatch_id=4020135:Q05BV5:chr20:uc002ydj.1:early-termination:FLJ00084:NP_031372:BC032666:coding-nonsynonymous:uc002ydk.1:Q9NZT2:AK024485:uc002ydl.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:OGFR:NM_007346:is_dbSNP=rs13038939)
OLFM1 | uc004cfn.2,uc010nar.1,uc010naq.1,uc004cfm.2,uc004cfl.2,uc004cfk.2 | 10439 | chr9 | 137119340 | 137152851 | GO:0016020,GO:0016524 | membrane,latrotoxin receptor activity | chr9:137108740-137108741_INS:--->AA(12:9:75.0%[F:4:33.3%|R:5:41.7%]call=homozygous:genome_phred=74.0:snp_phred=399.0:max_mapping_qual=37.0:mismatch_id=7596423:BC000189:Q6IMJ6:chr9:homozygous:frameshift:stop-codon-loss:uc010naq.1:OLFM1:is_dbSNP=rs61043559)
FLJ00180 | uc010bto.1 | 197358 | chr16 | 3538135 | 3546996 |  |  | chr16:3542228-3542229_DEL:G->-(11:11:100.0%[F:6:54.5%|R:5:45.5%]call=homozygous:genome_phred=71.0:snp_phred=399.0:max_mapping_qual=45.0:mismatch_id=6550136:NP_849172:early-termination:AF501292:not_dbSNP:uc010bto.1:intron-splice-site-mutation:NLRC3:NM_178844:homozygous:FLJ00180:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:uc010btn.1:chr16:Q7RTR2-3:abnormal-ref-gene-model-lacking-start-codon)
XPC | uc010hed.1,uc003bym.1 | 7508 | chr3 | 14161648 | 14195143 |  |  | chr3:14172876-14172877_DEL:G->-(17:15:88.2%[F:5:29.4%|R:10:58.8%]call=homozygous:genome_phred=49.0:snp_phred=559.0:max_mapping_qual=45.0:mismatch_id=484852:uc003bym.1:NM_004628:early-termination:NP_004619:NM_001145769:intron-splice-site-mutation:NP_001139241:XPC:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:chr3:is_dbSNP=rs62937462) | chr3:14175042-14175043_DEL:C->-(14:13:92.9%[F:3:21.4%|R:10:71.4%]call=homozygous:genome_phred=80.0:snp_phred=479.0:max_mapping_qual=50.0:mismatch_id=484930:uc003bym.1:NM_004628:early-termination:NP_004619:NM_001145769:intron-splice-site-mutation:NP_001139241:XPC:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:chr3:is_dbSNP=rs11339193) | chr3:14174970-14174971_DEL:C->-(12:8:66.7%[F:7:58.3%|R:1:8.3%]call=homozygous:genome_phred=74.0:snp_phred=393.0:max_mapping_qual=44.0:mismatch_id=484924:uc003bym.1:NM_004628:early-termination:NP_004619:NM_001145769:not_dbSNP:intron-splice-site-mutation:NP_001139241:XPC:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:chr3)
[NAME] | uc002tly.1 | 140738 | chr2 | 119905915 | 119912566 |  |  | chr2:119911121-119911122_INS:------->GTGTGC(5:4:80.0%[F:1:20.0%|R:3:60.0%]call=homozygous:genome_phred=53.0:snp_phred=159.0:max_mapping_qual=46.0:mismatch_id=3554106:[NAME]:utr-mutation:Q86SV2:uc002tly.1:homozygous:not_dbSNP:NP_899063:frameshift:NM_183240:chr2:is_dbSNP=rs3217464)
ZNF761 | uc010eqp.1,uc002qbt.1 | 388561 | chr19 | 58649735 | 58651814 |  |  | chr19:58649937-58649938_T->G(19:19:100.0%[F:15:78.9%|R:4:21.1%]call=homozygous:genome_phred=116.0:snp_phred=116.0:max_mapping_qual=56.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=57.2:mismatch_id=3924113:[NAME]:uc010eqo.1:early-termination:NP_001008401:CCDS33101:coding-nonsynonymous:uc010eqp.1:KIAA2033:Q86XN6-3:homozygous:ZNF761:abnormal-ref-gene-model-lacking-stop-codon:chr19:AB107355:uc002qbt.1:is_dbSNP=rs2708743)
C13orf26 | uc001uti.1 | 122046 | chr13 | 30404833 | 30447153 |  |  | chr13:30429008-30429009_G->A(8:8:100.0%[F:4:50.0%|R:4:50.0%]call=homozygous:genome_phred=83.0:snp_phred=83.0:[NAME]:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=58.5:mismatch_id=2366901:Q8N6G2:NM_152325:C13orf26:chr13:homozygous:NP_689538:uc001uti.1:intron-splice-site-mutation:is_dbSNP=rs12857479)
KIAA0644 | uc003szt.1 | 9865 | chr7 | 28959498 | 28964554 |  |  | chr7:28964022-28964023_DEL:C->-(6:5:83.3%[F:2:33.3%|R:3:50.0%]call=homozygous:genome_phred=52.0:snp_phred=155.0:max_mapping_qual=43.0:mismatch_id=913789:NP_055632:early-termination:chr7:NM_014817:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:KIAA0644:A4D1A6:intron-splice-site-mutation:uc003szt.1)
SLC24A1 | uc002apf.1 | 9187 | chr15 | 63701322 | 63735652 |  |  | chr15:63704669-63704670_DEL:C->-(18:17:94.4%[F:7:38.9%|R:10:55.6%]call=homozygous:genome_phred=92.0:snp_phred=639.0:[NAME]:mismatch_id=8855845:utr-mutation:early-termination:KIAA0702:BC117263:uc010bhm.1:AF026132:NM_004727:homozygous:SLC24A1:uc002apf.1:chr15:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:uc002apg.1:NP_004718:is_dbSNP=[NAME])
TLE2 | uc010dti.1,uc002lww.1,uc010dth.1 | 7089 | chr19 | 2948635 | 2998633 |  |  | chr19:2998559-2998560_C->T(7:6:85.7%[F:5:71.4%|R:1:14.3%]call=homozygous:genome_phred=63.0:snp_phred=77.0:max_mapping_qual=39.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=56.0:snp_ave_qual=34.0:mismatch_id=3371948:AK308137:uc010dti.1:NP_001138233:homozygous:NM_001144761:TLE2:chr19:intron-splice-site-mutation:is_dbSNP=rs55919790)
KIAA1751 | uc009vkz.1,uc001ain.1,uc001aim.1 | 85452 | chr1 | 1876445 | 1912274 |  |  | chr1:1876878-1876879_A->G(8:8:100.0%[F:4:50.0%|R:4:50.0%]call=homozygous:genome_phred=83.0:snp_phred=83.0:max_mapping_qual=39.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=53.0:mismatch_id=15481:KIAA1751:coding-nonsynonymous:Q9C0B2:NM_001080484:NP_001073953:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:stop-codon-loss:chr1:is_dbSNP=rs28548017:abnormal-ref-gene-model-lacking-start-codon:uc001aim.1)
VWA3B | uc002syq.1,uc002syo.1,uc002sym.2 | 200403 | chr2 | 98194824 | 98294927 |  |  | chr2:98294925-98294926_G->A(12:11:91.7%[F:3:25.0%|R:8:66.7%]call=homozygous:genome_phred=67.0:snp_phred=92.0:max_mapping_qual=46.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=49.6:mismatch_id=1144485:AX747910:Q502W6-7:uc002syr.1:utr-mutation:VWA3B:AL834173:Q53QF1:AX746614:uc002syq.1:coding-nonsynonymous:NM_144992:intron-splice-site-mutation:NP_659429:MGC26733:Q502W6:DKFZp451I0318:uc002syo.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:uc002syp.1:chr2:is_dbSNP=rs7587534)
MMP12 | uc001phk.1 | 4321 | chr11 | 102238673 | 102250922 | GO:0003824,GO:0004222,GO:0005578,GO:0006508,GO:0046872 | catalytic activity,metalloendopeptidase activity,proteinaceous extracellular matrix,proteolysis,metal ion binding | chr11:102244003-102244004_INS:-->T(10:5:50.0%[F:1:10.0%|R:4:40.0%]call=homozygous:genome_phred=6.0:snp_phred=137.0:max_mapping_qual=37.0:mismatch_id=7802086:early-termination:chr11:uc001phk.1:intron-splice-site-mutation:MMP12:NP_002417:Q99745:homozygous:NM_002426:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:is_dbSNP=rs5794199)
NAALADL2 | uc003fiu.1,uc003fit.1,uc010hwz.1,uc010hwy.1 | 254827 | chr3 | 176456893 | 176688131 |  |  | chr3:176434449-176434450_T->C(15:14:93.3%[F:10:66.7%|R:4:26.7%]call=homozygous:genome_phred=72.0:snp_phred=101.0:max_mapping_qual=42.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=48.9:mismatch_id=2073770:AK126272:Q58DX5:uc010hwy.1:NP_996898:coding-nonsynonymous:NAALADL2:AK131044:homozygous:uc003fiu.1:uc003fit.1:abnormal-ref-gene-model-lacking-stop-codon:start-codon-loss:NM_207015:chr3:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs4371530)
STYXL1 | uc003uej.2,uc003ueg.1,uc003uen.1,uc010ldh.1,uc003uek.2,uc003uem.1,uc003uel.1 | 51657 | chr7 | 75465798 | 75515234 | GO:0004721,GO:0005515,GO:0006470,GO:0007242,GO:0008138,GO:0016787 | phosphoprotein phosphatase activity,protein binding,protein amino acid dephosphorylation,intracellular signaling cascade,protein tyrosine/serine/threonine phosphatase activity,hydrolase activity | chr7:75468209-75468210_T->C(11:11:100.0%[F:5:45.5%|R:6:54.5%]call=homozygous:genome_phred=92.0:snp_phred=92.0:max_mapping_qual=51.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=54.5:[NAME]:utr-mutation:STYXL1:AK308912:BC024035:uc003ueh.1:AY927581:uc003uef.1:uc010ldg.1:Q9Y6J8-4:uc003uek.2:MKSTYX:chr7:AK308828:NP_057170:homozygous:uc010ldh.1:NM_016086:uc003uej.2:is_dbSNP=rs8565:[NAME]:CR615380:uc003uen.1:intron-splice-site-mutation:AF188204:AF169647:uc003uel.1:coding-synonymous:BX537896:uc003uem.1)
THAP9 | uc003hnt.1,uc003hnv.1,uc003hnu.1,uc003hns.1 | 79725 | chr4 | 84044912 | 84060146 |  |  | chr4:84057240-84057241_G->A(26:25:96.2%[F:13:50.0%|R:12:46.2%]call=homozygous:genome_phred=113.0:snp_phred=134.0:max_mapping_qual=52.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=56.9:mismatch_id=988179:Q9H5L6:THAP9:uc003hns.1:BX648134:coding-nonsynonymous:NP_078948:uc003hnt.1:uc003hnv.1:homozygous:NM_024672:abnormal-ref-gene-model-lacking-stop-codon:start-codon-loss:BC131722:chr4:is_dbSNP=rs1031639)
HADHB | uc002rgz.1,uc002rha.1 | 3032 | chr2 | 26321119 | 26366837 |  |  | chr2:26330629-26330630_INS:---->ACT(34:22:64.7%[F:16:47.1%|R:6:17.6%]call=homozygous:genome_phred=70.0:snp_phred=969.0:max_mapping_qual=49.0:mismatch_id=855468:CR609244:homozygous:uc002rha.1:not_dbSNP:P55084:uc002rgz.1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NP_000174:chr2:NM_000183:HADHB)
SRD5A2 | uc002rnw.1 | 6716 | chr2 | 31603159 | 31659544 |  |  | chr2:31659384-31659385_INS:-->G(10:7:70.0%[F:2:20.0%|R:5:50.0%]call=homozygous:genome_phred=30.0:snp_phred=241.0:max_mapping_qual=43.0:mismatch_id=1012817:NM_000348:early-termination:NP_000339:homozygous:uc002rnw.1:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:SRD5A2:intron-splice-site-mutation:chr2)
OR13C5 | uc004bcd.1 | 138799 | chr9 | 106400558 | 106401515 | GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004984,GO:0005886,GO:0007165,GO:0007186,GO:0007608,GO:0016020,GO:0016021,GO:0050896 | rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,olfactory receptor activity,plasma membrane,signal transduction,G-protein coupled receptor protein signaling pathway,sensory perception of smell,membrane,integral to membrane,response to stimulus | chr9:106400589-106400590_DEL:T->-(15:14:93.3%[F:6:40.0%|R:8:53.3%]call=homozygous:genome_phred=61.0:snp_phred=497.0:[NAME]:mismatch_id=6666486:OR13C5:chr9:[NAME]:homozygous:NP_001004482:frameshift:NM_001004482:uc004bcd.1:is_dbSNP=rs11314210)
MS4A14 | uc001npj.1,uc001npk.1,uc001npi.1 | 84689 | chr11 | 59920062 | 59941804 |  |  | chr11:59921928-59921930_DEL:TT->--(25:23:92.0%[F:8:32.0%|R:15:60.0%]call=homozygous:genome_phred=98.0:snp_phred=903.0:max_mapping_qual=47.0:mismatch_id=6730272:utr-mutation:early-termination:chr11:uc001npl.1:Q96JA4:Q96JA4-3:uc001npn.1:BC035361:AK057418:uc001npm.1:NM_032597:NP_001073160:BC107431:DKFZp434H092:NM_001079692:homozygous:uc001npk.1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:uc001npj.1:NP_115986:MS4A14:is_dbSNP=rs3217518)
PCDHB9 | uc003liw.1 | 56127 | chr5 | 140547076 | 140551295 |  |  | chr5:140548218-140548219_INS:-->A(43:35:81.4%[F:17:39.5%|R:18:41.9%]call=homozygous:genome_phred=127.0:snp_phred=1545.0:max_mapping_qual=43.0:mismatch_id=4300863:PCDHB9:chr5:early-termination:uc003liw.1:homozygous:not_dbSNP:NP_061992:abnormal-ref-gene-model-lacking-stop-codon:NM_019119:frameshift:stop-codon-loss)
SMAD5 | uc003lbl.1,uc003lbk.1,uc003lbj.1 | 4090 | chr5 | 135496434 | 135546321 |  |  | chr5:135540984-135540985_INS:-->C(21:16:76.2%[F:12:57.1%|R:4:19.0%]call=homozygous:genome_phred=77.0:snp_phred=575.0:max_mapping_qual=46.0:[NAME]:NP_001001419:[NAME]:SMAD5:uc003lbk.1:NM_001001419:NM_001001420:NP_001001420:uc003lbj.1:intron-splice-site-mutation:chr5:uc003lbl.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:NM_005903:frameshift:stop-codon-loss:is_dbSNP=rs55765823)
LSS | uc002zil.1,uc002zij.1,uc002zik.1 | 4047 | chr21 | 46433466 | 46473119 | GO:0000250,GO:0003824,GO:0006694,GO:0008152,GO:0008202,GO:0008610,GO:0016829,GO:0016853 | lanosterol synthase activity,catalytic activity,steroid biosynthetic process,metabolic process,steroid metabolic process,lipid biosynthetic process,lyase activity,isomerase activity | chr21:46433007-46433008_G->A(27:25:92.6%[F:16:59.3%|R:9:33.3%]call=homozygous:genome_phred=128.0:snp_phred=132.0:max_mapping_qual=47.0:genome_max_qual=3.0:genome_ave_qual=3.0:snp_max_qual=63.0:snp_ave_qual=51.9:mismatch_id=3902627:utr-mutation:early-termination:NM_001001438:NP_002331:chr21:NP_001001438:LSS:coding-nonsynonymous:uc002zij.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:P48449:is_dbSNP=rs2968:abnormal-ref-gene-model-lacking-start-codon)
EPCAM | uc002rvx.1,uc002rvw.1 | 4072 | chr2 | 47449970 | 47467661 |  |  | chr2:47425866-47425867_G->C(20:18:90.0%[F:11:55.0%|R:7:35.0%]call=homozygous:genome_phred=90.0:snp_phred=113.0:max_mapping_qual=47.0:genome_max_qual=14.0:genome_ave_qual=7.5:snp_max_qual=63.0:snp_ave_qual=56.8:mismatch_id=619653:EPCAM:homozygous:CR626162:intron-splice-site-mutation:chr2:uc002rvw.1:Q6FG26:NP_002345:NM_002354:is_dbSNP=[NAME])
CCDC144NL | uc002gyf.1 | 339184 | chr17 | 20707299 | 20740045 |  |  | chr17:20710490-20710491_G->T(8:6:75.0%[F:3:37.5%|R:3:37.5%]call=homozygous:genome_phred=24.0:snp_phred=77.0:max_mapping_qual=34.0:genome_max_qual=49.0:genome_ave_qual=45.5:snp_max_qual=63.0:snp_ave_qual=53.3:mismatch_id=3123861:uc002gyf.1:early-termination:Q6NUI1:NM_001004306:homozygous:not_dbSNP:chr17:NP_001004306:CCDC144NL:coding-nonsynonymous)
MAP3K7IP3 | uc010ngl.1,uc004dcj.1,uc004dck.1 | 257397 | chrX | 30755479 | 30903122 |  |  | chrX:30827106-30827107_G->A(9:9:100.0%[F:6:66.7%|R:3:33.3%]call=homozygous:genome_phred=86.0:snp_phred=86.0:max_mapping_qual=49.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=49.6:mismatch_id=3881375:NM_152787:Q8N5C8-2:intron-splice-site-mutation:AY331591:AY331592:MAP3K7IP3:A6NDD9:uc004dck.1:chrX:uc010ngl.1:homozygous:NP_690000:is_dbSNP=[NAME])
TSGA10IP | uc009yqw.1,uc009yqx.1,uc001ogk.1 | 254187 | chr11 | 65469690 | 65484010 |  |  | chr11:65469782-65469783_T->C(9:9:100.0%[F:8:88.9%|R:1:11.1%]call=homozygous:genome_phred=86.0:snp_phred=86.0:max_mapping_qual=39.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=52.6:mismatch_id=2614326:uc001ogk.1:utr-mutation:NM_152762:chr11:homozygous:abnormal-ref-gene-model-lacking-stop-codon:stop-codon-loss:coding-nonsynonymous:NP_689975:intron-splice-site-mutation:TSGA10IP:is_dbSNP=rs9795469)
ALPK2 | uc002lhj.2,uc002lhk.1 | 115701 | chr18 | 54299461 | 54447169 | GO:0004674,GO:0005524,GO:0006468,GO:0016301,GO:0016740 | protein serine/threonine kinase activity,ATP binding,protein amino acid phosphorylation,kinase activity,transferase activity | chr18:54355367-54355382_DEL:CAGTTGATGTGTCCT->---------------(19:9:47.4%[F:7:36.8%|R:2:10.5%]call=homozygous:genome_phred=60.0:snp_phred=370.0:max_mapping_qual=54.0:mismatch_id=10276125:NP_443179:uc002lhj.2:ALPK2:AX747403:homozygous:not_dbSNP:uc002lhk.1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NM_052947:Q86TB3:chr18)
ABCB1 | uc003uiz.1 | 5243 | chr7 | 86970883 | 87180500 | GO:0000166,GO:0005524,GO:0006810,GO:0016021,GO:0016887,GO:0017111,GO:0042626 | nucleotide binding,ATP binding,transport,integral to membrane,ATPase activity,nucleoside-triphosphatase activity, coupled to transmembrane movement of substances | chr7:87067436-87067437_T->C(21:20:95.2%[F:17:81.0%|R:3:14.3%]call=homozygous:genome_phred=89.0:snp_phred=119.0:max_mapping_qual=47.0:genome_max_qual=2.0:genome_ave_qual=2.0:snp_max_qual=63.0:snp_ave_qual=50.7:mismatch_id=989423:utr-mutation:uc003uiz.1:chr7:A8K294:homozygous:NM_000927:ABCB1:NP_000918:intron-splice-site-mutation:is_dbSNP=rs2214102)
VPS13B | uc003yiv.1,uc003yit.1,uc003yix.1,uc003yiw.1,uc003yis.1,uc003yiu.1 | 157680 | chr8 | 100218068 | 100592916 |  |  | chr8:100202881-100202882_T->G(21:20:95.2%[F:9:42.9%|R:11:52.4%]call=homozygous:genome_phred=89.0:snp_phred=119.0:max_mapping_qual=42.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=43.2:mismatch_id=1170199:NP_858047:early-termination:chr8:Q7Z7G8-5:homozygous:uc003yis.1:VPS13B:coding-nonsynonymous:NM_181661:is_dbSNP=rs7460625)
CRMP1 | uc003gip.1,uc003gis.1,uc003gir.1,uc003gin.1,uc003giq.1 | 1400 | chr4 | 5873391 | 5945686 | GO:0016810 | acting on carbon-nitrogen (but not peptide) bonds | chr4:5800861-5800862_G->C(15:13:86.7%[F:5:33.3%|R:8:53.3%]call=homozygous:genome_phred=78.0:snp_phred=98.0:max_mapping_qual=50.0:genome_max_qual=15.0:genome_ave_qual=10.0:snp_max_qual=63.0:snp_ave_qual=52.2:mismatch_id=89443:early-termination:NP_714928:EVC:CR608807:Q96I11:coding-nonsynonymous:P57679:NM_153717:uc003gil.1:CRMP1:homozygous:coding-synonymous:uc003gin.1:is_dbSNP=[NAME]:chr4)
SLC46A1 | uc002hbf.1 | 113235 | chr17 | 23745787 | 23757355 |  |  | chr17:23751848-23751849_DEL:A->-(11:11:100.0%[F:4:36.4%|R:7:63.6%]call=homozygous:genome_phred=71.0:snp_phred=399.0:max_mapping_qual=46.0:mismatch_id=8328450:uc002hbe.1:FLJ00234:utr-mutation:early-termination:Q6SZW1-2:AK093615:uc002hbg.1:intron-splice-site-mutation:NM_015077:SARM1:NM_080669:BC010691:NP_055892:homozygous:abnormal-ref-gene-model-lacking-stop-codon:chr17:NP_542400:frameshift:stop-codon-loss:uc002hbf.1:SLC46A1:is_dbSNP=rs5819844:uc010crl.1)
NLRC3 | uc010btn.1 | 197358 | chr16 | 3529036 | 3567393 |  |  | chr16:3542228-3542229_DEL:G->-(11:11:100.0%[F:6:54.5%|R:5:45.5%]call=homozygous:genome_phred=71.0:snp_phred=399.0:max_mapping_qual=45.0:mismatch_id=6550136:NP_849172:early-termination:AF501292:not_dbSNP:uc010bto.1:intron-splice-site-mutation:NLRC3:NM_178844:homozygous:FLJ00180:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:uc010btn.1:chr16:Q7RTR2-3:abnormal-ref-gene-model-lacking-start-codon)
ABCA13 | uc010kyt.1,uc003tos.1,uc010kyr.1,uc010kys.1,uc003toq.1,uc010kyu.1,uc003top.1 | 154664 | chr7 | 48465179 | 48657637 | GO:0000166,GO:0005524,GO:0016887,GO:0017111 | nucleotide binding,ATP binding,ATPase activity,nucleoside-triphosphatase activity | chr7:48256030-48256031_C->T(14:14:100.0%[F:5:35.7%|R:9:64.3%]call=homozygous:genome_phred=101.0:snp_phred=101.0:max_mapping_qual=42.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=49.1:mismatch_id=619960:early-termination:uc003toq.1:AK126220:coding-nonsynonymous:chr7:NM_152701:homozygous:Q86UQ4-3:abnormal-ref-gene-model-lacking-stop-codon:uc010kyr.1:NP_689914:ABCA13:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs1880738)
DKFZp434H092 | uc001npm.1,uc001npn.1,uc001npl.1 | 84689 | chr11 | 59920062 | 59941804 |  |  | chr11:59929935-59929936_A->G(29:25:86.2%[F:14:48.3%|R:11:37.9%]call=homozygous:genome_phred=92.0:snp_phred=134.0:max_mapping_qual=42.0:genome_max_qual=10.0:genome_ave_qual=6.5:snp_max_qual=63.0:snp_ave_qual=50.4:mismatch_id=2561371:uc001npm.1:AK057418:DKFZp434H092:chr11:homozygous:intron-splice-site-mutation:is_dbSNP=rs4938941) | chr11:59921928-59921930_DEL:TT->--(25:23:92.0%[F:8:32.0%|R:15:60.0%]call=homozygous:genome_phred=98.0:snp_phred=903.0:max_mapping_qual=47.0:mismatch_id=6730272:utr-mutation:early-termination:chr11:uc001npl.1:Q96JA4:Q96JA4-3:uc001npn.1:BC035361:AK057418:uc001npm.1:NM_032597:NP_001073160:BC107431:DKFZp434H092:NM_001079692:homozygous:uc001npk.1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:uc001npj.1:NP_115986:MS4A14:is_dbSNP=rs3217518)
PNLIPRP2 | uc009xyu.1,uc009xyt.1,uc009xyv.1,uc001lcq.1 | 5408 | chr10 | 118370454 | 118386415 |  |  | chr10:118373453-118373454_INS:-->G(10:7:70.0%[F:2:20.0%|R:5:50.0%]call=homozygous:genome_phred=15.0:snp_phred=226.0:max_mapping_qual=45.0:mismatch_id=8284537:utr-mutation:early-termination:PNLIPRP2:chr10:not_dbSNP:uc009xyt.1:AK307745:uc001lcq.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NP_005387:stop-codon-loss:NM_005396)
AK125397 | uc001wdt.1 |  | chr14 | 21956367 | 21971566 |  |  | chr14:21957299-21957300_DEL:G->-(22:18:81.8%[F:7:31.8%|R:11:50.0%]call=homozygous:genome_phred=64.0:snp_phred=715.0:max_mapping_qual=52.0:mismatch_id=6121095:early-termination:uc001wdt.1:homozygous:not_dbSNP:AK125397:chr14:frameshift)
PKD1L3 | uc002fbo.2 |  | chr16 | 70520942 | 70591378 |  |  | chr16:70538915-70538916_INS:----->TTTG(25:12:48.0%[F:6:24.0%|R:6:24.0%]call=homozygous:genome_phred=88.0:snp_phred=614.0:max_mapping_qual=38.0:mismatch_id=8187943:NM_181536:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:NP_853514:frameshift:stop-codon-loss:chr16:intron-splice-site-mutation:[NAME])
DKFZp451J085 | uc010lys.1,uc003xuz.1,uc003xva.1 | 253943 | chr8 | 64244115 | 64287900 |  |  | chr8:64261283-64261284_INS:-->G(29:27:93.1%[F:15:51.7%|R:12:41.4%]call=homozygous:genome_phred=125.0:snp_phred=1119.0:max_mapping_qual=46.0:mismatch_id=1918670:uc003xva.1:utr-mutation:AL832335:NP_689971:Q658Z6:NM_152758:AX747908:YTHDF3:intron-splice-site-mutation:uc003xuz.1:uc003xuy.1:chr8:homozygous:uc010lys.1:abnormal-ref-gene-model-lacking-stop-codon:frameshift:DKFZp451J085:AL831816:stop-codon-loss:is_dbSNP=rs58419856)
IFIT3 | uc001kgg.1,uc001kgf.1 | 3437 | chr10 | 91082282 | 91090296 | GO:0003674,GO:0005488,GO:0005575,GO:0008150 | molecular_function,binding,cellular_component,biological_process | chr10:91089226-91089227_INS:-->C(11:9:81.8%[F:4:36.4%|R:5:45.5%]call=homozygous:genome_phred=71.0:snp_phred=399.0:max_mapping_qual=46.0:mismatch_id=7440897:NM_001031683:early-termination:chr10:uc001kgf.1:O14879:NP_001026853:not_dbSNP:NP_001540:IFIT3:NM_001549:homozygous:uc001kgg.1:frameshift)
PPAN | uc002mnb.1,uc002mmz.1 | 56342 | chr19 | 10078094 | 10082975 |  |  | chr19:10079523-10079524_C->G(8:7:87.5%[F:6:75.0%|R:1:12.5%]call=homozygous:genome_phred=64.0:snp_phred=80.0:max_mapping_qual=38.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=61.0:snp_ave_qual=52.3:mismatch_id=3442163:NP_001035754:Q9NQ55:uc002mmz.1:NM_001040664:early-termination:CR594907:PPAN-P2RY11:uc002mna.1:coding-nonsynonymous:NP_064615:PPAN:A8MV53:Q9NQ55-2:NM_020230:homozygous:uc002mnb.1:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:chr19:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs2305791)
TCRA | uc001wbw.2,uc001wgb.2,uc001wgj.1,uc001wgh.2,uc001wey.2,uc001wgd.2,uc001wco.2,uc010air.1,uc001wgf.2,uc001wcr.1,uc001wbk.2,uc001wbi.2,uc001wfj.1,uc001wdg.1,uc001wet.2,uc001wde.1,uc001wfl.2,uc001wfw.1,uc001wen.1,uc001wge.2,uc001wgi.1,uc010ait.1,uc010ajx.1,uc001wez.2,uc010ajv.1,uc001wcs.1,uc001wfy.1,uc001wfb.1,uc001wev.2,uc001wfs.1,uc001wdv.2,uc001wfi.2,uc010ajd.1,uc001wfe.2,uc001wcq.2,uc001wfp.2,uc001wft.1,uc001wfq.1,uc001wfd.1,uc001wek.2,uc010ajo.1,uc001wfr.1,uc001wec.2,uc001wgg.2,uc001wby.2,uc001wfk.2,uc010ajf.1,uc001wfc.1,uc001wee.2,uc010aix.1,uc001weu.2,uc001wfv.1,uc001weo.2,uc001wdk.2,uc001wfg.2,uc010aka.1,uc001wbp.2,uc010ajz.1,uc001weh.1,uc010ais.1,uc001wgc.2,uc001wer.2,uc001wfz.1,uc001wca.1,uc001wcp.2,uc001wep.2,uc010aio.1,uc001wbz.1,uc010aja.1 |  | chr14 | 22080985 | 22089448 |  |  | chr14:22068459-22068460_DEL:C->-(13:11:84.6%[F:9:69.2%|R:2:15.4%]call=homozygous:genome_phred=37.0:snp_phred=399.0:max_mapping_qual=44.0:mismatch_id=6125055:uc001wcr.1:homozygous:not_dbSNP:TCRA:chr14:[NAME]:frameshift:stop-codon-loss:X92013) | chr14:22068430-22068431_DEL:G->-(14:9:64.3%[F:7:50.0%|R:2:14.3%]call=homozygous:genome_phred=34.0:snp_phred=332.0:max_mapping_qual=42.0:mismatch_id=6125053:uc001wcr.1:homozygous:not_dbSNP:TCRA:chr14:[NAME]:frameshift:stop-codon-loss:X92013)
PCLO | uc003uhx.2,uc003uht.1,uc003uhv.2,uc003uhu.1 | 27445 | chr7 | 82221256 | 82630133 |  |  | chr7:82419424-82419425_INS:---->TCA(24:13:54.2%[F:4:16.7%|R:9:37.5%]call=homozygous:genome_phred=110.0:snp_phred=696.0:max_mapping_qual=40.0:mismatch_id=2344496:Q9Y6V0-2:NP_055325:NP_149015:NM_033026:uc003uhx.2:PCLO:chr7:uc003uhv.2:NM_014510:homozygous:abnormal-ref-gene-model-lacking-stop-codon:frameshift:is_dbSNP=rs10630259)
HSD17B13 | uc010ikk.1,uc003hqo.1 | 345275 | chr4 | 88443964 | 88463062 |  |  | chr4:88450416-88450417_INS:-->A(35:27:77.1%[F:19:54.3%|R:8:22.9%]call=homozygous:genome_phred=143.0:snp_phred=1310.0:[NAME]:mismatch_id=2670823:NP_001129702:uc003hqo.1:uc010ikk.1:HSD17B13:not_dbSNP:intron-splice-site-mutation:NP_835236:AY186250:NM_001136230:Q7Z5P4-2:A8K9R9:homozygous:NM_178135:chr4)
[NAME] | uc002knr.2,uc002kns.2,uc002knq.2,uc010dkw.1 | 23255 | chr18 | 8779671 | 8822775 |  |  | chr18:8799444-8799445_G->C(19:18:94.7%[F:5:26.3%|R:13:68.4%]call=homozygous:genome_phred=90.0:snp_phred=113.0:max_mapping_qual=47.0:genome_max_qual=26.0:genome_ave_qual=26.0:snp_max_qual=61.0:snp_ave_qual=47.0:mismatch_id=3378312:[NAME]:Q9Y4B5-4:uc002kns.2:homozygous:NP_056025:chr18:intron-splice-site-mutation:NM_015210:is_dbSNP=rs632423:BC040542)
OR2T4 | uc001ieh.1 | 127074 | chr1 | 246591505 | 246592552 | GO:0001584,GO:0004871,GO:0004872,GO:0004930,GO:0004984,GO:0005886,GO:0007165,GO:0007186,GO:0007608,GO:0016020,GO:0016021,GO:0050896 | rhodopsin-like receptor activity,signal transducer activity,receptor activity,G-protein coupled receptor activity,olfactory receptor activity,plasma membrane,signal transduction,G-protein coupled receptor protein signaling pathway,sensory perception of smell,membrane,integral to membrane,response to stimulus | [NAME]:A->-(21:17:81.0%[F:11:52.4%|R:6:28.6%]call=homozygous:genome_phred=30.0:snp_phred=568.0:max_mapping_qual=35.0:mismatch_id=6451824:uc001ieh.1:NM_001004696:early-termination:NP_001004696:OR2T4:Q8NH00:homozygous:frameshift:chr1:is_dbSNP=rs34079073)
SGEF | uc003ezv.1,uc003ezx.1 | 26084 | chr3 | 155426263 | 155457031 |  |  | chr3:155440980-155440984_DEL:CAGT->----(14:9:64.3%[F:4:28.6%|R:5:35.7%]call=homozygous:genome_phred=11.0:snp_phred=250.0:max_mapping_qual=47.0:mismatch_id=4761855:early-termination:uc003ezx.1:not_dbSNP:intron-splice-site-mutation:uc003ezv.1:NP_056410:homozygous:NM_015595:abnormal-ref-gene-model-lacking-stop-codon:frameshift:stop-codon-loss:SGEF:chr3:AF415176)
CLCA3 | uc001dlv.1 | 9629 | chr1 | 86872546 | 86893647 | GO:0005215,GO:0005216,GO:0005244,GO:0005254,GO:0005262,GO:0005509,GO:0005576,GO:0005615,GO:0006810,GO:0006811,GO:0006816,GO:0031404 | transporter activity,ion channel activity,voltage-gated ion channel activity,chloride channel activity,calcium channel activity,calcium ion binding,extracellular region,extracellular space,transport,ion transport,calcium ion transport,chloride ion binding | [NAME]=homozygous:genome_phred=63.0:snp_phred=86.0:max_mapping_qual=52.0:genome_max_qual=15.0:genome_ave_qual=9.3:snp_max_qual=63.0:snp_ave_qual=52.8:mismatch_id=987912:NP_004912:early-termination:uc001dlv.1:Q9Y6N3:CLCA3:homozygous:NM_004921:coding-nonsynonymous:chr1:is_dbSNP=rs2292830)
NCRNA00153 | uc002wsb.1 | 55857 | chr20 | 21054645 | 21175258 |  |  | chr20:21134161-21134162_INS:-->G(10:9:90.0%[F:4:40.0%|R:5:50.0%]call=homozygous:genome_phred=68.0:snp_phred=319.0:max_mapping_qual=41.0:mismatch_id=9361603:NM_018474:chr20:C20orf19:early-termination:NP_060944:intron-splice-site-mutation:uc002wsb.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:NCRNA00153:frameshift:stop-codon-loss:is_dbSNP=rs11087346)
FLJ00084 | uc002ydl.1 | 11054 | chr20 | 60907682 | 60915797 |  |  | chr20:60914080-60914081_G->A(14:14:100.0%[F:12:85.7%|R:2:14.3%]call=homozygous:genome_phred=101.0:snp_phred=101.0:max_mapping_qual=41.0:genome_max_qual=0.0:genome_ave_qual=?:snp_max_qual=63.0:snp_ave_qual=55.9:mismatch_id=4020135:Q05BV5:chr20:uc002ydj.1:early-termination:FLJ00084:NP_031372:BC032666:coding-nonsynonymous:uc002ydk.1:Q9NZT2:AK024485:uc002ydl.1:homozygous:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:OGFR:NM_007346:is_dbSNP=rs13038939)
SEBOX | uc010crk.1,uc002hbb.1 | 645832 | chr17 | 23715416 | 23719207 | GO:0003674,GO:0003677,GO:0003700,GO:0005575,GO:0005634,GO:0006350,GO:0006355,GO:0007275,GO:0008150,GO:0030154,GO:0043565,GO:0045449 | molecular_function,DNA binding,transcription factor activity,cellular_component,nucleus,transcription, DNA-dependent, DNA-dependent,multicellular organismal development,biological_process,cell differentiation,sequence-specific DNA binding | chr17:23716351-23716352_INS:-->G(16:14:87.5%[F:6:37.5%|R:8:50.0%]call=homozygous:genome_phred=86.0:snp_phred=559.0:max_mapping_qual=43.0:mismatch_id=8327429:early-termination:SEBOX:homozygous:NM_001080837:frameshift:chr17:intron-splice-site-mutation:NP_001074306:uc002hbb.1:is_dbSNP=rs11396339)
FAM166A | uc004cmi.1 | 401565 | chr9 | 139257857 | 139262043 |  |  | chr9:139259577-139259578_G->A(13:12:92.3%[F:6:46.2%|R:6:46.2%]call=homozygous:genome_phred=68.0:snp_phred=95.0:max_mapping_qual=44.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=50.2:mismatch_id=2899965:chr9:NP_001001710:Q6J272:FAM166A:homozygous:NM_001001710:uc004cmi.1:intron-splice-site-mutation:is_dbSNP=rs9775264)
KLRF1 | uc009zgy.1,uc009zgv.1,uc001qwm.1,uc009zgz.1,uc009zgw.1,uc009zha.1,uc009zgx.1 | 51348 | chr12 | 9871343 | 9888870 |  |  | chr12:9885712-9885715_DEL:TGT->---(28:23:82.1%[F:12:42.9%|R:11:39.3%]call=homozygous:genome_phred=122.0:snp_phred=949.0:max_mapping_qual=47.0:mismatch_id=6484607:NP_057607:Q9NZS2:Q9NZS2-2:AF175207:uc009zgw.1:chr12:homozygous:not_dbSNP:uc009zgv.1:frameshift:NM_016523:KLRF1)
ZNF595 | uc010iay.1,uc003fzu.1,uc003fzv.1 | 152687 | chr4 | 43226 | 58380 |  |  | chr4:76101-76102_INS:-->C(11:8:72.7%[F:4:36.4%|R:4:36.4%]call=homozygous:genome_phred=69.0:snp_phred=357.0:max_mapping_qual=38.0:mismatch_id=5325:NM_182524:ZNF595:homozygous:not_dbSNP:NP_872330:abnormal-ref-gene-model-lacking-stop-codon:frameshift:uc003fzv.1:stop-codon-loss:intron-splice-site-mutation:chr4) | chr4:75995-75996_INS:-->A(5:5:100.0%[F:2:40.0%|R:3:60.0%]call=homozygous:genome_phred=53.0:snp_phred=159.0:max_mapping_qual=30.0:mismatch_id=5302:NM_182524:ZNF595:early-termination:homozygous:not_dbSNP:NP_872330:abnormal-ref-gene-model-lacking-stop-codon:frameshift:uc003fzv.1:stop-codon-loss:intron-splice-site-mutation:chr4) | chr4:77313-77314_INS:-->A(15:14:93.3%[F:6:40.0%|R:8:53.3%]call=homozygous:genome_phred=83.0:snp_phred=559.0:max_mapping_qual=55.0:mismatch_id=5349:NM_182524:ZNF595:homozygous:not_dbSNP:NP_872330:abnormal-ref-gene-model-lacking-stop-codon:frameshift:coding-synonymous:uc003fzv.1:stop-codon-loss:chr4)
COL17A1 | uc009xxp.1,uc009xxo.1,uc001kxr.1 | 1308 | chr10 | 105812934 | 105835628 |  |  | chr10:105809945-105809946_G->A(12:11:91.7%[F:3:25.0%|R:8:66.7%]call=homozygous:genome_phred=67.0:snp_phred=92.0:[NAME]:[NAME]:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=49.6:mismatch_id=3007043:early-termination:chr10:NP_000485:Q9UMD9:coding-nonsynonymous:NM_000494:uc001kxr.1:uc009xxo.1:COL17A1:homozygous:BC044628:abnormal-ref-gene-model-lacking-stop-codon:coding-synonymous:A2A2Y8:abnormal-ref-gene-model-lacking-start-codon:is_dbSNP=rs805701)
[NAME] | uc001rrr.1,uc009zky.1 | 121273 | chr12 | 47163289 | 47175029 |  |  | chr12:47175029-47175030_A->G(14:13:92.9%[F:6:42.9%|R:7:50.0%]call=homozygous:genome_phred=70.0:snp_phred=98.0:max_mapping_qual=42.0:genome_max_qual=1.0:genome_ave_qual=1.0:snp_max_qual=63.0:snp_ave_qual=43.3:mismatch_id=2659233:NP_689532:[NAME]:Q6X4T0:NM_152319:chr12:homozygous:uc001rrr.1:intron-splice-site-mutation:is_dbSNP=[NAME])
SSPO | uc010lpk.1,uc003wgg.2,uc003wgi.1,uc003wgh.2,uc010lpm.1 | 23145 | chr7 | 149149883 | 149156007 |  |  | chr7:149107599-149107600_INS:-->C(6:4:66.7%[F:2:33.3%|R:2:33.3%]call=homozygous:genome_phred=56.0:snp_phred=199.0:max_mapping_qual=34.0:mismatch_id=4559247:uc010lpk.1:early-termination:chr7:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NP_940857:NM_198455:stop-codon-loss:SSPO) | chr7:149137144-149137145_INS:-->C(8:7:87.5%[F:2:25.0%|R:5:62.5%]call=homozygous:genome_phred=62.0:snp_phred=239.0:max_mapping_qual=42.0:mismatch_id=4559953:uc010lpk.1:early-termination:chr7:homozygous:not_dbSNP:abnormal-ref-gene-model-lacking-stop-codon:frameshift:NP_940857:NM_198455:stop-codon-loss:SSPO)
Key
8 total | Present in COSMIC Cancer Gene Consensus list, see http://www.sanger.ac.uk/genetics/CGP/Census