regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRIQ3_chr1_74021015_74203176 | 74183435 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02723.hp2 HG03225.hp2 |
a0002 | a0002c0009 | a0002c0009t0008 | a0002c0009t0008g0263a0002c0009t0008g0264 | 2 | 274 | 0.0073 | 0 | c.249 others(5): Show |
LRRIQ3 | ENSG00000162620.16 | transcript | ENST00000354431.9 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(22): Show | 188 | 288 | 0.6528 | 0 | c.814 others(3): Show |
p.Arg others(4): Show |
MAGEB16 | ENSG00000189023.11 | transcript | ENST00000399988.6 | protein_coding | 2/2 | 957/1719 | 814/975 | 272/324 | chrX | TogoVar | ||
MALT1_chr18_58666465_58759477 | 58696337 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG01106.hp1 HG01243.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0183a0001c0001t0001g0186a0001c0001t0002g0293others(46): Show | 49 | 406 | 0.1207 | 1 | c.377 others(6): Show |
MALT1 | ENSG00000172175.16 | transcript | ENST00000649217.2 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(92): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0009others(11): Show | 95 | 404 | 0.2352 | -1 | c.494 others(4): Show |
p.Leu others(5): Show |
MDP1 | ENSG00000213920.9 | transcript | ENST00000288087.12 | protein_coding | 6/6 | 605/723 | 494/531 | 165/176 | chr14 | TogoVar | ||
MEI1_chr22_41694503_41804454 | 41699535 | G | GGA | frameshift_variant others(1): Show |
HIGH | HG01884.hp1 HG02280.hp1 HG02559.hp1 others(22): Show |
a0001a0009 | a0001c0004a0001c0008a0001c0011others(2): Show | a0001c0004t0003a0001c0004t0006a0001c0008t0003others(3): Show | a0001c0004t0003g0039a0001c0004t0003g0040a0001c0004t0003g0041others(22): Show | 25 | 260 | 0.0962 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
MEI1 | ENSG00000167077.13 | transcript | ENST00000401548.8 | protein_coding | 1/31 | 38/4016 | 2/3825 | 1/1274 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
MICA_chr6_31398595_31420315 | 31412384 | G | GCT | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show |
a0000 | a0000c0002a0000c0004a0000c0014others(2): Show | a0000c0002t0001a0000c0002t0006a0000c0004t0001others(4): Show | a0000c0002t0001g0001a0000c0002t0001g0012a0000c0002t0001g0020others(34): Show | 113 | 439 | 0.2574 | 2 | c.952 others(9): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | TogoVar | ||
MON2_chr12_62461826_62605476 | 62578430 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(145): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0006a0001c0009others(7): Show | a0001c0002t0031a0001c0006t0003a0001c0006t0007others(20): Show | a0001c0002t0031g0136a0001c0006t0003g0005a0001c0006t0003g0006others(143): Show | 148 | 368 | 0.4022 | 1 | c.451 others(7): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MS4A12_chr11_60487778_60512430 | 60497529 | C | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(178): Show |
a0002 | a0002c0002a0002c0004a0002c0005others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(3): Show | a0002c0002t0001g0004a0002c0002t0001g0008a0002c0002t0001g0021others(55): Show | 181 | 432 | 0.4190 | 0 | c.211 others(3): Show |
p.Gln others(3): Show |
MS4A12 | ENSG00000071203.9 | transcript | ENST00000016913.8 | protein_coding | 2/7 | 268/1167 | 211/804 | 71/267 | chr11 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195783262 | T | TCGGTGAC others(42): Show |
frameshift_variant | HIGH | HG03225.hp1 | a0051 | a0051c0139 | a0051c0139t0001 | a0051c0139t0001g0068 | 1 | 249 | 0.0040 | 49 | c.831 others(58): Show |
p.Asn others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8429/16756 | 8317/16239 | 2773/5412 | chr3 | TogoVar | ||
MUC7_chr4_70467197_70487997 | 70474006 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(69): Show |
a0002a0008 | a0002c0002a0008c0012 | a0002c0002t0004a0002c0002t0008a0008c0012t0004 | a0002c0002t0004g0005a0002c0002t0004g0010a0002c0002t0004g0013others(14): Show | 72 | 436 | 0.1651 | 0 | c.-15 others(5): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
MYBPC2_chr19_50427892_50471321 | 50437522 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02559.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0213 | 2 | 396 | 0.0051 | 0 | c.512 others(5): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 6/27 | chr19 | TogoVar | ||||||
MYCT1_chr6_152692897_152729569 | 152697964 | GAGAT | G | frameshift_variant | HIGH | HG00558.hp2 HG00609.hp1 HG00673.hp1 others(48): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0003a0002c0002t0004a0002c0002t0009others(6): Show | a0002c0002t0003g0054a0002c0002t0004g0005a0002c0002t0004g0012others(22): Show | 51 | 444 | 0.1149 | -4 | c.66_ others(9): Show |
p.Asp others(4): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/2 | 72/3030 | 66/708 | 22/235 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
MYO15A_chr17_18103756_18184800 | 18122105 | A | AG | frameshift_variant | HIGH | HG00621.hp1 HG00621.hp2 HG01099.hp1 others(9): Show |
a0009a0034a0044others(3): Show | a0009c0016a0009c0026a0009c0044others(5): Show | a0009c0016t0001a0009c0026t0004a0009c0044t0005others(5): Show | a0009c0016t0001g0150a0009c0016t0001g0180a0009c0016t0001g0234others(9): Show | 12 | 328 | 0.0366 | 1 | c.331 others(5): Show |
p.Glu others(6): Show |
MYO15A | ENSG00000091536.20 | transcript | ENST00000647165.2 | protein_coding | 2/66 | 3600/11811 | 3312/10593 | 1104/3530 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
MYO15B_chr17_75582800_75631849 | 75588737 | C | CG | frameshift_variant | HIGH | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(39): Show |
a0003a0015a0050others(1): Show | a0003c0008a0003c0024a0003c0025others(28): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(28): Show | a0003c0008t0002g0045a0003c0008t0002g0063a0003c0008t0002g0066others(37): Show | 42 | 384 | 0.1094 | 1 | c.684 others(4): Show |
p.Pro others(5): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 943/9914 | 685/9291 | 229/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
MYO15B_chr17_75582800_75631849 | 75596487 | CTG | C | frameshift_variant | HIGH | HG00738.hp1 HG01070.hp2 HG01109.hp1 others(20): Show |
a0003a0009a0015others(7): Show | a0003c0039a0003c0057a0003c0062others(17): Show | a0003c0039t0002a0003c0057t0002a0003c0062t0002others(17): Show | a0003c0039t0002g0072a0003c0039t0002g0073a0003c0057t0002g0046others(19): Show | 23 | 384 | 0.0599 | -2 | c.332 others(11): Show |
p.Cys others(6): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 13/64 | 3586/9914 | 3328/9291 | 1110/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
MYO15B_chr17_75582800_75631849 | 75605879 | C | T | stop_gained | HIGH | HG02647.hp2 HG02717.hp2 HG02895.hp2 others(2): Show |
a0009a0015a0114 | a0009c0031a0015c0040a0114c0111 | a0009c0031t0001a0015c0040t0002a0114c0111t0001 | a0009c0031t0001g0287a0009c0031t0001g0288a0015c0040t0002g0008others(1): Show | 5 | 384 | 0.0130 | 0 | c.415 others(4): Show |
p.Gln others(5): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 21/64 | 4408/9914 | 4150/9291 | 1384/3096 | chr17 | TogoVar | ||
MYORG_chr9_34361666_34381898 | 34372875 | G | C | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00609.hp1 others(56): Show |
a0004a0006 | a0004c0004a0004c0005a0004c0015others(1): Show | a0004c0004t0003a0004c0004t0018a0004c0004t0037others(4): Show | a0004c0004t0003g0005a0004c0004t0003g0021a0004c0004t0003g0034others(10): Show | 59 | 452 | 0.1305 | 0 | c.69C others(2): Show |
p.Tyr others(3): Show |
MYORG | ENSG00000164976.9 | transcript | ENST00000297625.8 | protein_coding | 2/2 | 238/6447 | 69/2145 | 23/714 | chr9 | TogoVar | ||
NBPF10_chr1_146059711_146149804 | 146074347 | AGTCAGTT others(3187): Show |
A | exon_loss_variant | HIGH | HG02486.hp1 HG02683.hp2 HG03225.hp1 others(2): Show |
a0087a0089a0090others(2): Show | a0087c0098a0089c0099a0090c0097others(2): Show | a0087c0098t0006a0089c0099t0006a0090c0097t0006others(2): Show | a0087c0098t0006g0144a0089c0099t0006g0142a0090c0097t0006g0141others(2): Show | 5 | 283 | 0.0177 | -3194 | c.949 others(10): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 79/90 | 10036/13030 | chr1 | TogoVar | |||||
NBPF10_chr1_146059711_146149804 | 146077543 | AGG | A | frameshift_variant | HIGH | HG02486.hp1 HG02683.hp2 HG03225.hp1 others(2): Show |
a0087a0089a0090others(2): Show | a0087c0098a0089c0099a0090c0097others(2): Show | a0087c0098t0006a0089c0099t0006a0090c0097t0006others(2): Show | a0087c0098t0006g0144a0089c0099t0006g0142a0090c0097t0006g0141others(2): Show | 5 | 283 | 0.0177 | -2 | c.949 others(11): Show |
p.Pro others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 76/90 | 9529/13030 | 9493/11388 | 3165/3795 | chr1 | TogoVar | ||
NBPF10_chr1_146059711_146149804 | 146109790 | T | CCCTTTTT others(23611): Show |
frameshift_variant others(1): Show |
HIGH | HG03225.hp2 | a0018 | a0018c0050 | a0018c0050t0001 | a0018c0050t0001g0035 | 1 | 283 | 0.0035 | 23618 | c.446 others(23627): Show |
p.Glu others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 35/90 | 4495/13030 | 4460/11388 | 1487/3795 | chr1 | TogoVar | ||
NBPF10_chr1_146059711_146149804 | 146126409 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
a0002a0003a0005others(116): Show | a0002c0002a0003c0003a0005c0072others(126): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0021others(129): Show | a0002c0002t0001g0001a0002c0002t0001g0064a0002c0002t0001g0065others(150): Show | 158 | 283 | 0.5583 | 0 | c.185 others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 13/89 | chr1 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148105470 | C | CATCT | frameshift_variant | HIGH | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(153): Show |
a0000a0002 | a0000c0002a0000c0003a0000c0004others(17): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0018others(25): Show | a0000c0002t0002g0001a0000c0002t0002g0007a0000c0002t0002g0008others(145): Show | 156 | 388 | 0.4021 | 4 | c.236 others(13): Show |
p.Val others(5): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 22/24 | 3441/5423 | 2361/2598 | 787/865 | chr1 | TogoVar | ||
NBPF14_chr1_148526385_148601011 | 148572586 | T | TCTTTCTC others(1535): Show |
stop_gained others(1): Show |
HIGH | HG03225.hp1 | a0064 | a0064c0047 | a0064c0047t0001 | a0064c0047t0001g0005 | 1 | 222 | 0.0045 | 1542 | c.261 others(1551): Show |
p.Lys others(1555): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 21/71 | 2806/10779 | 2614/8967 | 872/2988 | chr1 | TogoVar | ||
NBPF8_chr1_120410035_120474676 | 120436638 | AAG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0001a0012 | a0001c0002a0001c0007a0001c0010others(13): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0028others(30): Show | a0001c0002t0002g0001a0001c0002t0002g0012a0001c0002t0002g0013others(82): Show | 88 | 292 | 0.3014 | -2 | c.122 others(9): Show |
p.Arg others(4): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 4/23 | 1094/7256 | 122/2829 | 41/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
NBPF8_chr1_120410035_120474676 | 120440741 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0001a0012 | a0001c0002a0001c0007a0001c0010others(13): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0028others(30): Show | a0001c0002t0002g0001a0001c0002t0002g0012a0001c0002t0002g0013others(82): Show | 88 | 292 | 0.3014 | 0 | c.494 others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 6/22 | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120441370 | CCAACCAG others(6345): Show |
C | frameshift_variant others(3): Show |
HIGH | HG00544.hp2 HG00642.hp2 HG01069.hp1 others(67): Show |
a0001a0003a0006others(3): Show | a0001c0007a0001c0019a0001c0021others(7): Show | a0001c0007t0007a0001c0007t0019a0001c0007t0057others(20): Show | a0001c0007t0007g0003a0001c0007t0007g0084a0001c0007t0007g0085others(64): Show | 70 | 292 | 0.2397 | -6352 | c.778 others(12): Show |
p.Val others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 9/23 | 779/2829 | 260/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NBPF8_chr1_120410035_120474676 | 120466107 | C | G | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(56): Show |
a0001a0012 | a0001c0002a0001c0011a0001c0019others(5): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0028others(14): Show | a0001c0002t0002g0001a0001c0002t0002g0012a0001c0002t0002g0013others(54): Show | 59 | 292 | 0.2021 | 0 | c.271 others(4): Show |
p.Tyr others(4): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 23/23 | 3687/7256 | 2715/2829 | 905/942 | chr1 | TogoVar | ||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(211): Show |
a0001a0006a0010 | a0001c0001a0006c0012a0010c0010 | a0001c0001t0001a0001c0001t0006a0006c0012t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(99): Show | 214 | 398 | 0.5377 | -1 | c.877 others(4): Show |
p.Thr others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 10/16 | 989/2128 | 877/1521 | 293/506 | chr13 | TogoVar | ||
NIM1K_chr5_43187225_43285850 | 43277122 | C | T | stop_gained | HIGH | HG03225.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0063 | 1 | 292 | 0.0034 | 0 | c.358 others(3): Show |
p.Arg others(4): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 3/4 | 1239/2313 | 358/1311 | 120/436 | chr5 | TogoVar | ||
NIPSNAP3A_chr9_104742683_104765120 | 104752920 | C | T | stop_gained | HIGH | HG02258.hp2 HG02451.hp2 HG02922.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0006a0003c0004t0001g0049a0003c0004t0001g0119 | 6 | 446 | 0.0135 | 0 | c.286 others(3): Show |
p.Arg others(3): Show |
NIPSNAP3A | ENSG00000136783.10 | transcript | ENST00000374767.5 | protein_coding | 3/6 | 396/1636 | 286/744 | 96/247 | chr9 | TogoVar | ||
NLRP8_chr19_55942832_55993629 | 55987913 | G | C | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(251): Show |
a0000 | a0000c0001a0000c0002a0000c0003others(39): Show | a0000c0001t0001a0000c0001t0004a0000c0001t0005others(114): Show | a0000c0001t0001g0008a0000c0001t0001g0037a0000c0001t0001g0038others(241): Show | 254 | 350 | 0.7257 | 0 | c.314 others(4): Show |
p.Ter others(12): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 10/10 | 3218/3934 | 3147/3147 | 1049/1048 | chr19 | TogoVar | ||
NOTUM_chr17_81947507_81966187 | 81958995 | C | CTCTTGGG others(38): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0045 | 1 | 384 | 0.0026 | 45 | c.473 others(54): Show |
NOTUM | ENSG00000185269.12 | transcript | ENST00000409678.8 | protein_coding | 3/10 | chr17 | TogoVar | ||||||
NPIPA5_chr16_15358628_15383294 | 15363681 | CGCTGAGG others(64): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(80): Show |
a0000 | a0000c0002a0000c0024 | a0000c0002t0002a0000c0002t0003a0000c0024t0002 | a0000c0002t0002g0001a0000c0002t0002g0020a0000c0002t0002g0021others(39): Show | 83 | 430 | 0.1930 | -71 | c.960 others(79): Show |
p.Pro others(5): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 8/8 | 1030/1084 | 960/1053 | 320/350 | chr16 | TogoVar | ||
NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(394): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(34): Show | a0001c0001t0000a0001c0003t0000a0001c0004t0000others(34): Show | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0006others(328): Show | 397 | 414 | 0.9589 | -2 | c.386 others(9): Show |
p.His others(5): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 4/8 | 387/1194 | 386/1194 | 129/397 | chr16 | TogoVar | ||
NPIPB8_chr16_28633065_28663744 | 28658517 | A | AAGAGGCA others(3): Show |
frameshift_variant | HIGH | HG02055.hp1 HG02280.hp2 HG02559.hp2 others(16): Show |
a0004a0005a0023others(1): Show | a0004c0004a0005c0008a0005c0015others(2): Show | a0004c0004t0001a0005c0008t0002a0005c0015t0001others(3): Show | a0004c0004t0001g0198a0004c0004t0001g0199a0004c0004t0001g0200others(16): Show | 19 | 351 | 0.0541 | 10 | c.118 others(19): Show |
p.Ala others(5): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 8/8 | 1321/1537 | 1197/1299 | 399/432 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NUDT11_chrX_51485011_51501592 | 51496443 | ATCCTCGA others(7): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(44): Show | 273 | 274 | 0.9964 | -14 | c.-13 others(19): Show |
p.Met others(3): Show |
NUDT11 | ENSG00000196368.5 | transcript | ENST00000375992.4 | protein_coding | 1/2 | 149/2381 | 1/495 | 1/164 | chrX | TogoVar | ||
OCEL1_chr19_17221226_17234219 | 17226993 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp1 HG03225.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0020 | 2 | 444 | 0.0045 | 0 | c.247 others(5): Show |
OCEL1 | ENSG00000099330.9 | transcript | ENST00000215061.9 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
OCIAD2_chr4_48880019_48911774 | 48894003 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG00642.hp1 HG03225.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 3 | 364 | 0.0082 | 1 | c.265 others(6): Show |
OCIAD2 | ENSG00000145247.12 | transcript | ENST00000508632.6 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
OPN1LW_chrX_154139243_154164032 | 154156292 | A | AG | frameshift_variant others(1): Show |
HIGH | HG03225.hp1 | a0007 | a0007c0035 | a0007c0035t0006 | a0007c0035t0006g0133 | 1 | 258 | 0.0039 | 1 | c.745 others(4): Show |
p.Val others(5): Show |
OPN1LW | ENSG00000102076.10 | transcript | ENST00000369951.9 | protein_coding | 5/6 | 787/1242 | 746/1095 | 249/364 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OR10AD1_chr12_48197339_48208292 | 48203092 | C | CA | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(74): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 77 | 414 | 0.1860 | 1 | c.200 others(4): Show |
p.Ser others(4): Show |
OR10AD1 | ENSG00000172640.4 | transcript | ENST00000310248.4 | protein_coding | 1/1 | 200/954 | 200/954 | 67/317 | chr12 | TogoVar | ||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001a0002c0002t0001g0009a0002c0002t0001g0023others(45): Show | 238 | 436 | 0.5459 | 0 | c.756 others(3): Show |
p.Tyr others(4): Show |
OR10D3 | ENSG00000197309.5 | transcript | ENST00000641351.3 | protein_coding | 2/2 | 806/3561 | 756/939 | 252/312 | chr11 | TogoVar | ||
OR10X1_chr1_158573919_158584899 | 158579702 | C | T | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(209): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0000a0001c0004t0000a0001c0006t0000others(1): Show | a0001c0001t0000g0000a0001c0004t0000g0000a0001c0006t0000g0000others(1): Show | 212 | 430 | 0.4930 | 0 | c.198 others(3): Show |
p.Trp others(3): Show |
OR10X1 | ENSG00000279111.2 | transcript | ENST00000623167.1 | protein_coding | 1/1 | 198/981 | 198/981 | 66/326 | chr1 | TogoVar | ||
OR11G2_chr14_20185896_20206075 | 20197747 | C | CA | frameshift_variant | HIGH | HG01109.hp2 HG03130.hp2 HG03225.hp2 others(3): Show |
a0008 | a0008c0008 | a0008c0008t0026a0008c0008t0029 | a0008c0008t0026g0036a0008c0008t0026g0080a0008c0008t0029g0014 | 6 | 482 | 0.0125 | 1 | c.311 others(4): Show |
p.Phe others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1087/4413 | 312/936 | 104/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(101): Show | 275 | 482 | 0.5705 | 1 | c.585 others(4): Show |
p.Gly others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1361/4413 | 586/936 | 196/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
OR13C2_chr9_104599671_104610627 | 104605111 | TGTTA | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(171): Show |
a0002a0006a0007others(2): Show | a0002c0001a0002c0005a0002c0010others(4): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(4): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(4): Show | 174 | 412 | 0.4223 | -4 | c.513 others(11): Show |
p.Asn others(5): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 516/957 | 513/957 | 171/318 | chr9 | TogoVar | ||
OR13C2_chr9_104599671_104610627 | 104605383 | AGC | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(204): Show |
a0002a0003a0006others(3): Show | a0002c0001a0002c0005a0002c0010others(8): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(8): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(8): Show | 207 | 412 | 0.5024 | -2 | c.243 others(9): Show |
p.Leu others(4): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 244/957 | 243/957 | 81/318 | chr9 | TogoVar | ||
OR13D1_chr9_104689518_104700462 | 104695275 | G | GTGAA | frameshift_variant | HIGH | HG01255.hp2 HG01884.hp2 HG02257.hp2 others(3): Show |
a0005 | a0005c0006 | a0005c0006t0000 | a0005c0006t0000g0000 | 6 | 396 | 0.0152 | 4 | c.759 others(11): Show |
p.Ser others(5): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 1/1 | 760/945 | 760/945 | 254/314 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
OR1A2_chr17_3192519_3203448 | 3197530 | A | ATTTTCTT others(36): Show |
frameshift_variant | HIGH | HG03225.hp1 | a0010 | a0010c0012 | a0010c0012t0000 | a0010c0012t0000g0000 | 1 | 430 | 0.0023 | 43 | c.12_ others(48): Show |
p.Asn others(3): Show |
OR1A2 | ENSG00000172150.4 | transcript | ENST00000381951.1 | protein_coding | 1/1 | 13/930 | 13/930 | 5/309 | chr17 | TogoVar | ||
OR1A2_chr17_3192519_3203448 | 3197564 | G | T | stop_gained | HIGH | HG03225.hp1 | a0010 | a0010c0012 | a0010c0012t0000 | a0010c0012t0000g0000 | 1 | 430 | 0.0023 | 0 | c.46G others(2): Show |
p.Gly others(3): Show |
OR1A2 | ENSG00000172150.4 | transcript | ENST00000381951.1 | protein_coding | 1/1 | 46/930 | 46/930 | 16/309 | chr17 | TogoVar | ||
OR1A2_chr17_3192519_3203448 | 3197585 | C | T | stop_gained | HIGH | HG03225.hp1 | a0010 | a0010c0012 | a0010c0012t0000 | a0010c0012t0000g0000 | 1 | 430 | 0.0023 | 0 | c.67C others(2): Show |
p.Gln others(3): Show |
OR1A2 | ENSG00000172150.4 | transcript | ENST00000381951.1 | protein_coding | 1/1 | 67/930 | 67/930 | 23/309 | chr17 | TogoVar |