view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBPF8_chr1_120410035_120474676 | 120466107 | C | G | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(56): Show |
a0002a0013 | a0002c0001a0002c0031a0013c0025 | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(9): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(54): Show |
59 | 290 | 0.2034 | 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 | |||
NBPF9_chr1_149047186_149108551 | 149058873 | CCTATCTG others(3161): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(94): Show |
a0003a0004a0010others(5): Show | a0003c0003a0003c0027a0004c0004others(11): Show | a0003c0003t0002a0003c0003t0020a0003c0003t0035others(33): Show | a0003c0003t0002g0005 a0003c0003t0002g0233 a0003c0003t0002g0235 others(88): Show |
97 | 342 | 0.2836 | -3168 | c.225 others(15): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 26/30 | chr1 | TogoVar | |||||||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(210): Show |
a0001a0008a0009 | a0001c0001a0008c0012a0009c0010 | a0001c0001t0001a0001c0001t0006a0008c0012t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(97): Show |
213 | 396 | 0.5379 | -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 | |||
NIPSNAP3A_chr9_104742683_104765120 | 104752920 | C | T | stop_gained | HIGH | HG02258.hp2 HG02451.hp2 HG02922.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0006 a0003c0004t0001g0053 a0003c0004t0001g0124 |
6 | 444 | 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(250): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0008others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(222): Show |
253 | 348 | 0.7270 | 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 | |||
NOMO3_chr16_16227528_16299811 | 16263645 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01099.hp1 HG01168.hp2 HG01257.hp1 others(3): Show |
a0004a0008a0009 | a0004c0004a0008c0012a0009c0013 | a0004c0004t0002a0008c0012t0005a0009c0013t0001 | a0004c0004t0002g0123 a0004c0004t0002g0124 a0004c0004t0002g0125 others(3): Show |
6 | 132 | 0.0455 | 0 | c.166 others(6): Show |
NOMO3 | ENSG00000103226.19 | transcript | ENST00000399336.9 | protein_coding | 14/30 | chr16 | TogoVar | |||||||
NPIPB11_chr16_29376310_29411711 | 29381893 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG02451.hp2 | a0046 | a0046c0089 | a0046c0089t0002 | a0046c0089t0002g0305 | 1 | 424 | 0.0024 | 13 | c.302 others(22): Show |
p.Pro others(6): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5785/6369 | 3038/3486 | 1013/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0011others(19): Show | a0002c0002a0002c0041a0002c0065others(28): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(40): Show | a0002c0002t0001g0077 a0002c0002t0001g0132 a0002c0002t0001g0133 others(144): Show |
149 | 426 | 0.3498 | -13 | c.264 others(22): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5408/6369 | 2649/3486 | 883/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29383062 | ATCTTGAT others(118): Show |
G | frameshift_variant | HIGH | HG02451.hp2 | a0046 | a0046c0089 | a0046c0089t0002 | a0046c0089t0002g0305 | 1 | 339 | 0.0029 | -125 | c.174 others(9): Show |
p.Gln others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4617/6369 | 1746/3486 | 582/1161 | chr16 | TogoVar | |||
NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(393): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(325): Show |
396 | 412 | 0.9612 | -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 | |||
NPIPB4_chr16_21829582_21862756 | 21835391 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG02451.hp2 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0039 | 1 | 204 | 0.0049 | -113 | c.288 others(9): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3210/4020 | 2883/3669 | 961/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835882 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(38): Show |
a0004a0007a0014others(14): Show | a0004c0006a0004c0015a0004c0064others(18): Show | a0004c0006t0001a0004c0015t0001a0004c0064t0001others(18): Show | a0004c0006t0001g0002 a0004c0006t0001g0044 a0004c0006t0001g0094 others(36): Show |
41 | 204 | 0.2010 | -13 | c.249 others(22): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2719/4020 | 2492/3669 | 831/1222 | chr16 | TogoVar | |||
NPRL3_chr16_80386_143673 | 138304 | AGAGGAGG others(25): Show |
A | splice_acceptor_variant others(2): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(131): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(131): Show |
134 | 347 | 0.3862 | -32 | c.-67 others(41): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 2/14 | 38 | chr16 | TogoVar | ||||||
NR1H2_chr19_50371457_50388388 | 50376578 | T | C | splice_donor_variant others(1): Show |
HIGH | HG02257.hp1 HG02451.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0007a0001c0019 | a0001c0007t0004a0001c0019t0006 | a0001c0007t0004g0011 a0001c0007t0004g0026 a0001c0019t0006g0027 |
7 | 372 | 0.0188 | 0 | c.-12 others(6): Show |
NR1H2 | ENSG00000131408.15 | transcript | ENST00000253727.10 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NRAP_chr10_113583714_113669041 | 113653022 | ATAGTCTT others(121): Show |
A | frameshift_variant others(3): Show |
HIGH | HG01891.hp2 HG02451.hp2 HG03471.hp2 others(2): Show |
a0022 | a0022c0071a0022c0072a0022c0073others(2): Show | a0022c0071t0002a0022c0072t0001a0022c0073t0001others(2): Show | a0022c0071t0002g0267 a0022c0072t0001g0268 a0022c0073t0001g0269 others(2): Show |
5 | 396 | 0.0126 | -128 | c.466 others(11): Show |
p.Glu others(5): Show |
NRAP | ENSG00000197893.14 | transcript | ENST00000359988.4 | protein_coding | 6/42 | 641/5613 | 466/5193 | 156/1730 | chr10 | TogoVar | |||
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show |
381 | 402 | 0.9478 | -1 | c.250 others(4): Show |
p.Leu others(4): Show |
NUTM2A | ENSG00000184923.12 | transcript | ENST00000381707.6 | protein_coding | 1/7 | 633/3290 | 250/2637 | 84/878 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
NUTM2B_chr10_79698227_79717758 | 79708709 | C | T | stop_gained | HIGH | HG02257.hp1 HG02451.hp1 HG02559.hp1 others(2): Show |
a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0001 | 5 | 304 | 0.0164 | 0 | c.109 others(4): Show |
p.Arg others(4): Show |
NUTM2B | ENSG00000188199.11 | transcript | ENST00000429828.7 | protein_coding | 3/7 | 1476/3293 | 1093/2637 | 365/878 | chr10 | TogoVar | |||
OAS1_chr12_112901962_112924903 | 112919388 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(80): Show |
306 | 434 | 0.7051 | 0 | c.103 others(6): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0025 others(45): Show |
237 | 434 | 0.5461 | 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 | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0006t0001g0000 others(1): Show |
212 | 428 | 0.4953 | 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 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(101): Show |
274 | 478 | 0.5732 | 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 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 174 | 410 | 0.4244 | -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 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 207 | 410 | 0.5049 | -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 | |||
OR13C5_chr9_104593457_104604413 | 104598487 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(209): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0004a0005c0005others(4): Show | a0001c0001t0001a0004c0004t0001a0005c0005t0001others(4): Show | a0001c0001t0001g0000 a0004c0004t0001g0000 a0005c0005t0001g0000 others(4): Show |
212 | 422 | 0.5024 | -1 | c.926 others(4): Show |
p.His others(5): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 926/957 | 926/957 | 309/318 | chr9 | TogoVar | |||
OR1B1_chr9_122623125_122662627 | 122629491 | C | CA | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(154): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0023 others(97): Show |
157 | 418 | 0.3756 | 1 | c.41d others(3): Show |
p.Leu others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 574/1941 | 41/954 | 14/317 | chr9 | TogoVar | |||
OR2D2_chr11_6886574_6897500 | 6891690 | ATT | A | frameshift_variant | HIGH | HG01109.hp1 HG02109.hp2 HG02257.hp2 others(12): Show |
a0005a0011 | a0005c0006a0011c0016 | a0005c0006t0001a0011c0016t0001 | a0005c0006t0001g0000 a0011c0016t0001g0000 |
15 | 480 | 0.0313 | -2 | c.809 others(9): Show |
p.Lys others(5): Show |
OR2D2 | ENSG00000166368.3 | transcript | ENST00000299459.3 | protein_coding | 1/1 | 810/927 | 809/927 | 270/308 | chr11 | TogoVar | |||
OR2L8_chr1_247943858_247954796 | 247949724 | T | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0006t0001g0000 others(4): Show |
276 | 378 | 0.7302 | 0 | c.867 others(3): Show |
p.Tyr others(4): Show |
OR2L8 | ENSG00000279263.1 | transcript | ENST00000623922.1 | protein_coding | 1/1 | 867/939 | 867/939 | 289/312 | chr1 | TogoVar | |||
OR2T1_chr1_248398048_248413020 | 248406591 | G | A | stop_gained | HIGH | HG02451.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0028 | 1 | 266 | 0.0038 | 0 | c.444 others(3): Show |
p.Trp others(4): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 2/2 | 675/2104 | 444/957 | 148/318 | chr1 | TogoVar | |||
OR2T27_chr1_248644838_248660528 | 248650008 | T | TA | frameshift_variant | HIGH | HG01243.hp1 HG01884.hp1 HG02055.hp1 others(19): Show |
a0004a0009a0011others(7): Show | a0004c0082a0009c0010a0011c0015others(8): Show | a0004c0082t0008a0009c0010t0004a0011c0015t0004others(9): Show | a0004c0082t0008g0134 a0009c0010t0004g0010 a0011c0015t0004g0024 others(10): Show |
22 | 382 | 0.0576 | 1 | c.876 others(4): Show |
p.Arg others(5): Show |
OR2T27 | ENSG00000187701.5 | transcript | ENST00000460972.4 | protein_coding | 2/2 | 965/1136 | 876/954 | 292/317 | chr1 | TogoVar | |||
OR2T2_chr1_248440637_248460725 | 248446506 | AGATGGGC others(93): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0018 | a0003c0004t0007g0021 a0003c0004t0007g0098 a0003c0004t0007g0099 others(3): Show |
8 | 328 | 0.0244 | -100 | c.-44 others(112): Show |
OR2T2 | ENSG00000196240.6 | transcript | ENST00000641925.2 | protein_coding | 2/4 | 6185 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OR2T35_chr1_248631356_248650278 | 248638301 | T | TCA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(298): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(91): Show |
301 | 306 | 0.9837 | 2 | c.956 others(9): Show |
p.Ile others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 1011/2957 | 957/972 | 319/323 | chr1 | TogoVar | |||
OR2T4_chr1_248356665_248367627 | 248362336 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(155): Show |
a0001a0009 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0001a0001c0011t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0000 a0001c0011t0001g0000 a0001c0014t0001g0000 others(1): Show |
158 | 428 | 0.3692 | -1 | c.673 others(4): Show |
p.Ile others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 673/963 | 673/963 | 225/320 | chr1 | TogoVar | |||
OR2T8_chr1_247915252_247928152 | 247921168 | C | CG | frameshift_variant | HIGH | HG02451.hp1 HG02647.hp1 HG02717.hp2 others(2): Show |
a0014 | a0014c0024a0014c0060a0014c0061 | a0014c0024t0001a0014c0060t0002a0014c0061t0002 | a0014c0024t0001g0001 a0014c0060t0002g0002 a0014c0061t0002g0002 |
5 | 424 | 0.0118 | 1 | c.151 others(8): Show |
p.His others(4): Show |
OR2T8 | ENSG00000177462.9 | transcript | ENST00000641945.2 | protein_coding | 2/2 | 439/2422 | 152/939 | 51/312 | chr1 | TogoVar | |||
OR2V2_chr5_181142586_181164285 | 181155256 | TTGTC | T | frameshift_variant | HIGH | HG00408.hp1 HG00738.hp2 HG01515.hp2 others(23): Show |
a0003 | a0003c0003 | a0003c0003t0009a0003c0003t0014a0003c0003t0032others(4): Show | a0003c0003t0009g0004 a0003c0003t0009g0010 a0003c0003t0014g0010 others(10): Show |
26 | 422 | 0.0616 | -4 | c.320 others(11): Show |
p.Cys others(5): Show |
OR2V2 | ENSG00000182613.3 | transcript | ENST00000641492.1 | protein_coding | 2/2 | 754/4777 | 320/948 | 107/315 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
OR4D10_chr11_59468315_59484361 | 59478120 | G | T | stop_gained | HIGH | HG00639.hp2 HG00733.hp1 HG01106.hp2 others(39): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0002a0002c0002t0007a0002c0002t0013others(2): Show | a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0035 others(4): Show |
42 | 428 | 0.0981 | 0 | c.691 others(3): Show |
p.Glu others(4): Show |
OR4D10 | ENSG00000254466.2 | transcript | ENST00000530162.2 | protein_coding | 3/3 | 1241/2482 | 691/936 | 231/311 | chr11 | TogoVar | |||
OR4L1_chr14_20055045_20065983 | 20060289 | TCATAGAT others(12): Show |
T | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(235): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0005a0001c0008others(10): Show | a0001c0002t0001a0001c0005t0001a0001c0008t0001others(10): Show | a0001c0002t0001g0000 a0001c0005t0001g0000 a0001c0008t0001g0000 others(10): Show |
238 | 438 | 0.5434 | -19 | c.248 others(26): Show |
p.Ile others(4): Show |
OR4L1 | ENSG00000176246.1 | transcript | ENST00000315683.1 | protein_coding | 1/1 | 248/939 | 248/939 | 83/312 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
OR4Q3_chr14_19738571_19754469 | 19747402 | T | TTCTC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG01069.hp1 HG01071.hp2 others(13): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0003a0003c0003t0006a0003c0007t0003 | a0003c0003t0003g0006 a0003c0003t0003g0018 a0003c0003t0006g0011 others(1): Show |
16 | 274 | 0.0584 | 4 | c.3-3 others(11): Show |
OR4Q3 | ENSG00000182652.4 | transcript | ENST00000642117.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(223): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0004a0002c0005others(7): Show | a0002c0002t0001a0002c0004t0001a0002c0005t0001others(7): Show | a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(7): Show |
226 | 400 | 0.5650 | 0 | c.819 others(3): Show |
p.Tyr others(4): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 1/1 | 819/918 | 819/918 | 273/305 | chr11 | TogoVar | |||
OR4X2_chr11_48240104_48251015 | 48245184 | C | G | stop_gained | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(75): Show |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0001a0006c0009t0001 | a0002c0002t0001g0000 a0006c0009t0001g0000 |
78 | 436 | 0.1789 | 0 | c.81C others(2): Show |
p.Tyr others(3): Show |
OR4X2 | ENSG00000172208.7 | transcript | ENST00000624868.2 | protein_coding | 1/1 | 81/912 | 81/912 | 27/303 | chr11 | TogoVar | |||
OR51B5_chr11_5337586_5348524 | 5343311 | CCAGCCCC others(10): Show |
C | frameshift_variant | HIGH | HG01361.hp2 HG01433.hp1 HG02109.hp2 others(19): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 22 | 464 | 0.0474 | -17 | c.197 others(24): Show |
p.Ala others(4): Show |
OR51B5 | ENSG00000167355.8 | transcript | ENST00000300773.3 | protein_coding | 1/1 | 213/939 | 197/939 | 66/312 | chr11 | TogoVar | |||
OR52N4_chr11_5749243_5760958 | 5755254 | A | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(63): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0006 | a0003c0003t0001g0001 a0003c0003t0006g0001 |
66 | 470 | 0.1404 | 0 | c.514 others(3): Show |
p.Arg others(4): Show |
OR52N4 | ENSG00000181074.5 | transcript | ENST00000641350.2 | protein_coding | 2/2 | 625/1329 | 514/966 | 172/321 | chr11 | TogoVar | |||
OR56B2P_chr11_5756153_5774080 | 5763343 | CACTCTTG others(10730): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(56): Show |
a0002 | a0002c0000 | a0002c0000t0003 | a0002c0000t0003g0003 a0002c0000t0003g0019 |
59 | 432 | 0.1366 | -10737 | c.2-1 others(12): Show |
OR56B2P | ENSG00000181017.7 | transcript | ENST00000641377.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR5AC2_chr3_98082173_98093102 | 98087454 | AT | A | frameshift_variant | HIGH | HG01175.hp2 HG02451.hp2 HG03540.hp1 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0000 | 5 | 460 | 0.0109 | -1 | c.283 others(4): Show |
p.Ser others(4): Show |
OR5AC2 | ENSG00000196578.4 | transcript | ENST00000358642.2 | protein_coding | 1/1 | 283/930 | 283/930 | 95/309 | chr3 | TogoVar | |||
OR5AC2_chr3_98082173_98093102 | 98087856 | G | GA | frameshift_variant | HIGH | HG01175.hp2 HG02055.hp1 HG02109.hp2 others(14): Show |
a0006a0008a0009 | a0006c0006a0008c0009a0009c0010 | a0006c0006t0001a0006c0006t0002a0008c0009t0001others(1): Show | a0006c0006t0001g0000 a0006c0006t0002g0000 a0008c0009t0001g0000 others(1): Show |
17 | 460 | 0.0370 | 1 | c.692 others(4): Show |
p.Ser others(5): Show |
OR5AC2 | ENSG00000196578.4 | transcript | ENST00000358642.2 | protein_coding | 1/1 | 693/930 | 693/930 | 231/309 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
OR5AC2_chr3_98082173_98093102 | 98088100 | T | C | stop_lost others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(33): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0002a0002c0002t0002a0004c0005t0002others(2): Show | a0001c0001t0002g0000 a0002c0002t0002g0000 a0004c0005t0002g0000 others(2): Show |
36 | 460 | 0.0783 | 0 | c.928 others(3): Show |
p.Ter others(11): Show |
OR5AC2 | ENSG00000196578.4 | transcript | ENST00000358642.2 | protein_coding | 1/1 | 928/930 | 928/930 | 310/309 | chr3 | TogoVar | |||
OR5H1_chr3_98125721_98143548 | 98132918 | C | A | stop_gained | HIGH | HG02258.hp2 HG02451.hp1 HG02965.hp2 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0003 | 4 | 416 | 0.0096 | 0 | c.221 others(3): Show |
p.Ser others(3): Show |
OR5H1 | ENSG00000231192.3 | transcript | ENST00000641874.1 | protein_coding | 2/2 | 369/5999 | 221/942 | 74/313 | chr3 | TogoVar | |||
OR6Y1_chr1_158539550_158559405 | 158546972 | CATGATTG others(4974): Show |
C | start_lost others(2): Show |
HIGH | HG02451.hp1 HG03041.hp2 HG03098.hp1 others(3): Show |
a0002 | a0002c0000 | a0002c0000t0010a0002c0000t0030 | a0002c0000t0010g0016 a0002c0000t0010g0053 a0002c0000t0030g0054 |
6 | 428 | 0.0140 | -4981 | c.-14 others(15): Show |
p.Met others(11): Show |
OR6Y1 | ENSG00000197532.3 | transcript | ENST00000641622.1 | protein_coding | 2/2 | 2705/5128 | 1/978 | 1/325 | chr1 | TogoVar | |||
OR7G3_chr19_9121012_9131950 | 9126022 | G | GATGGT | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0014a0003c0003others(3): Show | a0002c0002t0001a0002c0014t0001a0003c0003t0001others(3): Show | a0002c0002t0001g0000 a0002c0014t0001g0000 a0003c0003t0001g0000 others(3): Show |
177 | 400 | 0.4425 | 5 | c.924 others(12): Show |
p.Ser others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 928/939 | 928/939 | 310/312 | chr19 | TogoVar | |||
OR7G3_chr19_9121012_9131950 | 9126587 | G | A | stop_gained | HIGH | HG02109.hp1 HG02451.hp1 HG03130.hp1 others(2): Show |
a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0000 | 5 | 400 | 0.0125 | 0 | c.364 others(3): Show |
p.Arg others(4): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 364/939 | 364/939 | 122/312 | chr19 | TogoVar | |||
OR8G1_chr11_124236095_124259364 | 124250452 | C | G | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0007 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(41): Show |
217 | 428 | 0.5070 | 0 | c.777 others(3): Show |
p.Tyr others(4): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1143/5055 | 777/936 | 259/311 | chr11 | TogoVar |