| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OFD1_chrX_13729748_13774357 | 13760706 | A | AAATGT | frameshift_variant others(1): Show |
HIGH | NA18992.hp2 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0155 | 1 | 327 | 0.0031 | 5 | c.224 others(14): Show |
p.Tyr others(5): Show |
OFD1 | ENSG00000046651.16 | transcript | ENST00000340096.11 | protein_coding | 16/23 | 2577/3612 | 2253/3039 | 751/1012 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| OLFM1_chr9_135082668_135126180 | 135119911 | C | A | stop_gained | HIGH | NA19089.hp2 | a0002 | a0002c0009 | a0002c0009t0023 | a0002c0009t0023g0278 | 1 | 360 | 0.0028 | 0 | c.119 others(4): Show |
p.Tyr others(4): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 6/6 | 1513/2782 | 1191/1458 | 397/485 | chr9 | TogoVar | ||
| OLFM4_chr13_53023813_53057057 | 53043174 | C | T | stop_gained | HIGH | HG01978.hp2 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0157 | 1 | 466 | 0.0022 | 0 | c.640 others(3): Show |
p.Arg others(4): Show |
OLFM4 | ENSG00000102837.7 | transcript | ENST00000219022.3 | protein_coding | 4/5 | 664/2843 | 640/1533 | 214/510 | chr13 | TogoVar | ||
| OLFM4_chr13_53023813_53057057 | 53050729 | C | A | stop_gained | HIGH | NA19081.hp1 | a0009 | a0009c0015 | a0009c0015t0019 | a0009c0015t0019g0001 | 1 | 466 | 0.0022 | 0 | c.149 others(4): Show |
p.Tyr others(4): Show |
OLFM4 | ENSG00000102837.7 | transcript | ENST00000219022.3 | protein_coding | 5/5 | 1515/2843 | 1491/1533 | 497/510 | chr13 | TogoVar | ||
| OLFM4_chr13_53023813_53057057 | 53050755 | T | A | stop_gained | HIGH | NA19081.hp1 | a0009 | a0009c0015 | a0009c0015t0019 | a0009c0015t0019g0001 | 1 | 466 | 0.0022 | 0 | c.151 others(4): Show |
p.Leu others(4): Show |
OLFM4 | ENSG00000102837.7 | transcript | ENST00000219022.3 | protein_coding | 5/5 | 1541/2843 | 1517/1533 | 506/510 | chr13 | TogoVar | ||
| OMD_chr9_92407380_92429471 | 92415167 | A | T | stop_gained | HIGH | HG01255.hp1 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0155 | 1 | 428 | 0.0023 | 0 | c.125 others(4): Show |
p.Tyr others(4): Show |
OMD | ENSG00000127083.8 | transcript | ENST00000375550.5 | protein_coding | 3/3 | 1537/4324 | 1251/1266 | 417/421 | chr9 | TogoVar | ||
| OOSP1_chr11_59933432_59962480 | 59945232 | C | T | stop_gained | HIGH | HG02630.hp1 HG03041.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0045a0002c0002t0002g0046 | 2 | 386 | 0.0052 | 0 | c.322 others(3): Show |
p.Arg others(4): Show |
OOSP1 | ENSG00000284873.1 | transcript | ENST00000646685.1 | protein_coding | 3/5 | 345/795 | 322/555 | 108/184 | chr11 | TogoVar | ||
| OPN1LW_chrX_154139243_154164032 | 154156399 | T | TA | frameshift_variant others(1): Show |
HIGH | HG01169.hp1 | a0030 | a0030c0025 | a0030c0025t0005 | a0030c0025t0005g0065 | 1 | 258 | 0.0039 | 1 | c.851 others(4): Show |
p.Tyr others(5): Show |
OPN1LW | ENSG00000102076.10 | transcript | ENST00000369951.9 | protein_coding | 5/6 | 893/1242 | 852/1095 | 284/364 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| OPRK1_chr8_53220724_53256637 | 53229653 | G | A | stop_gained | HIGH | HG01099.hp2 | a0004 | a0004c0009 | a0004c0009t0006 | a0004c0009t0006g0111 | 1 | 372 | 0.0027 | 0 | c.787 others(3): Show |
p.Arg others(4): Show |
OPRK1 | ENSG00000082556.14 | transcript | ENST00000265572.8 | protein_coding | 4/4 | 1025/4954 | 787/1143 | 263/380 | chr8 | TogoVar | ||
| OPRPN_chr4_70392940_70415195 | 70409584 | C | T | stop_gained | HIGH | HG00597.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0003 | 1 | 456 | 0.0022 | 0 | c.256 others(3): Show |
p.Gln others(3): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3/3 | 372/983 | 256/747 | 86/248 | chr4 | TogoVar | ||
| OR10A5_chr11_6840683_6851636 | 6845755 | C | T | stop_gained | HIGH | NA20300.hp1 | a0009 | a0009c0013 | a0009c0013t0000 | a0009c0013t0000g0000 | 1 | 450 | 0.0022 | 0 | c.73C others(2): Show |
p.Gln others(3): Show |
OR10A5 | ENSG00000166363.6 | transcript | ENST00000299454.5 | protein_coding | 1/1 | 73/954 | 73/954 | 25/317 | chr11 | TogoVar | ||
| OR10A6_chr11_7919592_7936268 | 7927731 | A | T | stop_gained | HIGH | NA18963.hp2 | a0011 | a0011c0015 | a0011c0015t0077 | a0011c0015t0077g0184 | 1 | 441 | 0.0023 | 0 | c.932 others(3): Show |
p.Leu others(4): Show |
OR10A6 | ENSG00000279000.4 | transcript | ENST00000641238.1 | protein_coding | 4/4 | 2913/6052 | 932/945 | 311/314 | chr11 | TogoVar | ||
| OR10A6_chr11_7919592_7936268 | 7927747 | G | A | stop_gained | HIGH | HG01928.hp1 HG06807.hp2 NA19056.hp2 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0004a0006c0006t0034 | a0006c0006t0004g0047a0006c0006t0034g0046 | 4 | 441 | 0.0091 | 0 | c.916 others(3): Show |
p.Arg others(4): Show |
OR10A6 | ENSG00000279000.4 | transcript | ENST00000641238.1 | protein_coding | 4/4 | 2897/6052 | 916/945 | 306/314 | chr11 | TogoVar | ||
| OR10C1_chr6_29434306_29445977 | 29440178 | C | T | stop_gained | HIGH | HG02257.hp2 HG02572.hp2 HG02615.hp2 others(7): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 10 | 451 | 0.0222 | 0 | c.163 others(3): Show |
p.Gln others(3): Show |
OR10C1 | ENSG00000206474.8 | transcript | ENST00000444197.3 | protein_coding | 1/1 | 873/1672 | 163/939 | 55/312 | chr6 | 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 | ||
| OR10G7_chr11_124031013_124046325 | 124038427 | G | T | stop_gained | HIGH | HG01167.hp1 HG02647.hp1 NA20129.hp1 others(1): Show |
a0010a0017 | a0010c0009a0017c0032 | a0010c0009t0001a0017c0032t0004 | a0010c0009t0001g0033a0010c0009t0001g0074a0017c0032t0004g0036 | 4 | 482 | 0.0083 | 0 | c.575 others(3): Show |
p.Ser others(4): Show |
OR10G7 | ENSG00000182634.9 | transcript | ENST00000641585.1 | protein_coding | 2/2 | 1035/3449 | 575/936 | 192/311 | chr11 | TogoVar | ||
| OR10H2_chr19_15723024_15734052 | 15728113 | C | T | stop_gained | HIGH | NA18941.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0000 | 1 | 414 | 0.0024 | 0 | c.70C others(2): Show |
p.Gln others(3): Show |
OR10H2 | ENSG00000171942.5 | transcript | ENST00000305899.5 | protein_coding | 1/1 | 90/1029 | 70/948 | 24/315 | chr19 | TogoVar | ||
| OR10J1_chr1_159434722_159445967 | 159440550 | T | A | stop_gained | HIGH | HG00280.hp2 HG00738.hp1 HG01070.hp2 others(20): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0004 | a0004c0004t0001g0000a0004c0004t0004g0000 | 23 | 456 | 0.0504 | 0 | c.759 others(3): Show |
p.Cys others(4): Show |
OR10J1 | ENSG00000196184.10 | transcript | ENST00000423932.6 | protein_coding | 1/1 | 829/1246 | 759/930 | 253/309 | chr1 | TogoVar | ||
| OR10R2_chr1_158467220_158485936 | 158480352 | C | T | stop_gained | HIGH | HG01257.hp1 HG01928.hp1 HG01975.hp1 others(3): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0018a0006c0007t0001g0027a0006c0007t0001g0119 | 6 | 446 | 0.0135 | 0 | c.442 others(3): Show |
p.Gln others(4): Show |
OR10R2 | ENSG00000198965.5 | transcript | ENST00000641067.1 | protein_coding | 2/2 | 548/1132 | 442/975 | 148/324 | chr1 | TogoVar | ||
| OR10V1_chr11_59707916_59718845 | 59713479 | G | A | stop_gained | HIGH | HG00438.hp2 HG00639.hp2 HG00733.hp2 others(33): Show |
a0003a0007a0011 | a0003c0002a0007c0010a0011c0015 | a0003c0002t0000a0007c0010t0000a0011c0015t0000 | a0003c0002t0000g0000a0007c0010t0000g0000a0011c0015t0000g0000 | 36 | 428 | 0.0841 | 0 | c.367 others(3): Show |
p.Gln others(4): Show |
OR10V1 | ENSG00000172289.3 | transcript | ENST00000307552.3 | protein_coding | 1/1 | 367/930 | 367/930 | 123/309 | 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 | ||
| OR10Z1_chr1_158600268_158617514 | 158606897 | C | A | stop_gained | HIGH | HG02109.hp2 HG02572.hp2 HG03098.hp1 |
a0005 | a0005c0006 | a0005c0006t0006a0005c0006t0039 | a0005c0006t0006g0005a0005c0006t0039g0005 | 3 | 446 | 0.0067 | 0 | c.459 others(3): Show |
p.Tyr others(4): Show |
OR10Z1 | ENSG00000198967.5 | transcript | ENST00000641002.1 | protein_coding | 2/2 | 706/6323 | 459/942 | 153/313 | chr1 | TogoVar | ||
| OR11G2_chr14_20185896_20206075 | 20198016 | C | A | stop_gained | HIGH | HG02886.hp1 HG02970.hp1 |
a0009 | a0009c0012 | a0009c0012t0008 | a0009c0012t0008g0006 | 2 | 482 | 0.0042 | 0 | c.579 others(3): Show |
p.Cys others(4): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1354/4413 | 579/936 | 193/311 | chr14 | TogoVar | ||
| OR11H1_chr22_15523192_15534139 | 15528857 | T | G | stop_gained | HIGH | HG01167.hp2 HG02698.hp2 NA18982.hp2 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0000 | a0005c0006t0000g0000 | 4 | 263 | 0.0152 | 0 | c.666 others(3): Show |
p.Tyr others(4): Show |
OR11H1 | ENSG00000130538.6 | transcript | ENST00000643195.1 | protein_coding | 1/1 | 666/948 | 666/948 | 222/315 | chr22 | TogoVar | ||
| OR11H4_chr14_20234286_20249349 | 20242962 | T | A | stop_gained | HIGH | HG02896.hp1 HG02897.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0060 | 2 | 439 | 0.0046 | 0 | c.141 others(3): Show |
p.Tyr others(3): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2/2 | 198/1585 | 141/945 | 47/314 | chr14 | TogoVar | ||
| OR11H6_chr14_20218710_20229702 | 20224640 | C | T | stop_gained | HIGH | HG01255.hp2 | a0010 | a0010c0010 | a0010c0010t0000 | a0010c0010t0000g0000 | 1 | 450 | 0.0022 | 0 | c.931 others(3): Show |
p.Arg others(4): Show |
OR11H6 | ENSG00000176219.3 | transcript | ENST00000315519.3 | protein_coding | 1/1 | 931/993 | 931/993 | 311/330 | chr14 | TogoVar | ||
| OR12D3_chr6_29368423_29380291 | 29374535 | A | T | stop_gained | HIGH | HG00558.hp2 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0000 | 1 | 437 | 0.0023 | 0 | c.753 others(3): Show |
p.Tyr others(4): Show |
OR12D3 | ENSG00000112462.8 | transcript | ENST00000396806.3 | protein_coding | 1/1 | 757/1869 | 753/951 | 251/316 | chr6 | TogoVar | ||
| OR13C3_chr9_104530749_104541856 | 104536619 | G | C | stop_gained | HIGH | HG02723.hp1 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0000 | 1 | 456 | 0.0022 | 0 | c.105 others(3): Show |
p.Tyr others(3): Show |
OR13C3 | ENSG00000204246.4 | transcript | ENST00000641090.1 | protein_coding | 1/1 | 238/1108 | 105/954 | 35/317 | chr9 | TogoVar | ||
| OR13C3_chr9_104530749_104541856 | 104536643 | G | C | stop_gained | HIGH | HG02723.hp1 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0000 | 1 | 456 | 0.0022 | 0 | c.81C others(2): Show |
p.Tyr others(3): Show |
OR13C3 | ENSG00000204246.4 | transcript | ENST00000641090.1 | protein_coding | 1/1 | 214/1108 | 81/954 | 27/317 | chr9 | TogoVar | ||
| OR13C3_chr9_104530749_104541856 | 104536654 | C | A | stop_gained | HIGH | HG02723.hp1 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0000 | 1 | 456 | 0.0022 | 0 | c.70G others(2): Show |
p.Glu others(3): Show |
OR13C3 | ENSG00000204246.4 | transcript | ENST00000641090.1 | protein_coding | 1/1 | 203/1108 | 70/954 | 24/317 | chr9 | TogoVar | ||
| OR13C3_chr9_104530749_104541856 | 104536693 | C | A | stop_gained | HIGH | NA18963.hp1 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0000 | 1 | 456 | 0.0022 | 0 | c.31G others(2): Show |
p.Glu others(3): Show |
OR13C3 | ENSG00000204246.4 | transcript | ENST00000641090.1 | protein_coding | 1/1 | 164/1108 | 31/954 | 11/317 | chr9 | TogoVar | ||
| OR13C4_chr9_104521253_104532209 | 104526433 | A | C | stop_gained | HIGH | HG02083.hp2 HG02129.hp2 NA18947.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0000 | a0003c0003t0000g0000 | 9 | 458 | 0.0197 | 0 | c.777 others(3): Show |
p.Tyr others(4): Show |
OR13C4 | ENSG00000148136.5 | transcript | ENST00000277216.3 | protein_coding | 1/1 | 777/957 | 777/957 | 259/318 | chr9 | TogoVar | ||
| OR13C8_chr9_104564168_104575130 | 104569193 | C | A | stop_gained | HIGH | HG02071.hp1 HG02523.hp2 NA18948.hp2 others(6): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0000a0003c0006t0000 | a0003c0003t0000g0000a0003c0006t0000g0000 | 9 | 432 | 0.0208 | 0 | c.26C others(2): Show |
p.Ser others(2): Show |
OR13C8 | ENSG00000186943.1 | transcript | ENST00000335040.1 | protein_coding | 1/1 | 26/963 | 26/963 | 9/320 | chr9 | TogoVar | ||
| OR13D1_chr9_104689518_104700462 | 104695393 | C | CAGGAATA others(40): Show |
frameshift_variant others(1): Show |
HIGH | HG03704.hp1 | a0014 | a0014c0020 | a0014c0020t0000 | a0014c0020t0000g0000 | 1 | 396 | 0.0025 | 47 | c.877 others(54): Show |
p.His others(5): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 1/1 | 924/945 | 924/945 | 308/314 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| OR1A1_chr17_3202667_3223896 | 3215984 | C | T | stop_gained | HIGH | NA18956.hp2 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0002 | 1 | 434 | 0.0023 | 0 | c.364 others(3): Show |
p.Arg others(4): Show |
OR1A1 | ENSG00000172146.4 | transcript | ENST00000641732.2 | protein_coding | 4/4 | 1254/4166 | 364/930 | 122/309 | 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 | ||
| OR1B1_chr9_122623125_122662627 | 122628962 | G | A | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(158): Show |
a0002a0003a0006 | a0002c0002a0002c0016a0002c0017others(2): Show | a0002c0002t0002a0002c0002t0012a0002c0016t0002others(3): Show | a0002c0002t0002g0001a0002c0002t0002g0007a0002c0002t0002g0021others(81): Show | 161 | 420 | 0.3833 | 0 | c.571 others(3): Show |
p.Arg others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 1104/1941 | 571/954 | 191/317 | chr9 | TogoVar | ||
| OR1D5_chr17_3057669_3068607 | 3063094 | G | A | stop_gained | HIGH | HG00597.hp2 HG03688.hp2 |
a0009a0010 | a0009c0012a0010c0011 | a0009c0012t0000a0010c0011t0000 | a0009c0012t0000g0000a0010c0011t0000g0000 | 2 | 444 | 0.0045 | 0 | c.514 others(3): Show |
p.Arg others(4): Show |
OR1D5 | ENSG00000262628.1 | transcript | ENST00000575751.1 | protein_coding | 1/1 | 514/939 | 514/939 | 172/312 | chr17 | TogoVar | ||
| OR1E1_chr17_3392104_3403410 | 3398263 | G | A | stop_gained | HIGH | homoSapiens_chm13v2.hp1 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0000 | 1 | 380 | 0.0026 | 0 | c.148 others(3): Show |
p.Arg others(3): Show |
OR1E1 | ENSG00000180016.2 | transcript | ENST00000322608.2 | protein_coding | 1/1 | 148/1307 | 148/945 | 50/314 | chr17 | TogoVar | ||
| OR1J1_chr9_122471958_122482926 | 122477222 | G | T | stop_gained | HIGH | HG00280.hp2 | a0009 | a0009c0010 | a0009c0010t0000 | a0009c0010t0000g0000 | 1 | 472 | 0.0021 | 0 | c.705 others(3): Show |
p.Cys others(4): Show |
OR1J1 | ENSG00000136834.3 | transcript | ENST00000259357.3 | protein_coding | 1/1 | 705/969 | 705/969 | 235/322 | chr9 | TogoVar | ||
| OR1L1_chr9_122656716_122667648 | 122662013 | C | T | stop_gained | HIGH | NA18992.hp2 | a0010 | a0010c0016 | a0010c0016t0000 | a0010c0016t0000g0000 | 1 | 454 | 0.0022 | 0 | c.298 others(3): Show |
p.Gln others(4): Show |
OR1L1 | ENSG00000173679.2 | transcript | ENST00000309623.1 | protein_coding | 1/1 | 298/933 | 298/933 | 100/310 | chr9 | TogoVar | ||
| OR2A2_chr7_144104583_144115539 | 144110378 | C | T | stop_gained | HIGH | HG02523.hp1 | a0007 | a0007c0010 | a0007c0010t0000 | a0007c0010t0000g0000 | 1 | 408 | 0.0025 | 0 | c.796 others(3): Show |
p.Arg others(4): Show |
OR2A2 | ENSG00000221989.3 | transcript | ENST00000408979.3 | protein_coding | 1/1 | 796/957 | 796/957 | 266/318 | chr7 | TogoVar | ||
| OR2A4_chr6_131694644_131706401 | 131701036 | G | C | stop_gained | HIGH | NA19004.hp1 NA19011.hp1 NA19087.hp1 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0000 | 3 | 379 | 0.0079 | 0 | c.366 others(3): Show |
p.Tyr others(4): Show |
OR2A4 | ENSG00000180658.4 | transcript | ENST00000315453.4 | protein_coding | 1/1 | 366/1758 | 366/933 | 122/310 | chr6 | TogoVar | ||
| OR2AE1_chr7_99871062_99882033 | 99876070 | G | A | stop_gained | HIGH | HG01952.hp1 | a0009 | a0009c0011 | a0009c0011t0000 | a0009c0011t0000g0000 | 1 | 388 | 0.0026 | 0 | c.964 others(3): Show |
p.Arg others(4): Show |
OR2AE1 | ENSG00000244623.2 | transcript | ENST00000316368.3 | protein_coding | 1/1 | 964/972 | 964/972 | 322/323 | chr7 | TogoVar | ||
| OR2AG1_chr11_6778020_6796558 | 6785743 | A | T | stop_gained | HIGH | HG03654.hp2 | a0011 | a0011c0013 | a0011c0013t0003 | a0011c0013t0003g0001 | 1 | 468 | 0.0021 | 0 | c.706 others(3): Show |
p.Lys others(4): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 2/2 | 1178/6993 | 706/951 | 236/316 | chr11 | TogoVar | ||
| OR2AP1_chr12_55567468_55580612 | 55575062 | T | A | stop_gained | HIGH | NA18967.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0006 | 1 | 478 | 0.0021 | 0 | c.648 others(3): Show |
p.Tyr others(4): Show |
OR2AP1 | ENSG00000179615.3 | transcript | ENST00000641114.1 | protein_coding | 2/2 | 998/1548 | 648/930 | 216/309 | chr12 | TogoVar | ||
| OR2AP1_chr12_55567468_55580612 | 55575075 | A | T | stop_gained | HIGH | NA18967.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0006 | 1 | 478 | 0.0021 | 0 | c.661 others(3): Show |
p.Lys others(4): Show |
OR2AP1 | ENSG00000179615.3 | transcript | ENST00000641114.1 | protein_coding | 2/2 | 1011/1548 | 661/930 | 221/309 | chr12 | TogoVar | ||
| OR2AP1_chr12_55567468_55580612 | 55575131 | T | A | stop_gained | HIGH | NA18967.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0006 | 1 | 478 | 0.0021 | 0 | c.717 others(3): Show |
p.Cys others(4): Show |
OR2AP1 | ENSG00000179615.3 | transcript | ENST00000641114.1 | protein_coding | 2/2 | 1067/1548 | 717/930 | 239/309 | chr12 | TogoVar | ||
| OR2AP1_chr12_55567468_55580612 | 55575165 | G | T | stop_gained | HIGH | NA18967.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0006 | 1 | 478 | 0.0021 | 0 | c.751 others(3): Show |
p.Gly others(4): Show |
OR2AP1 | ENSG00000179615.3 | transcript | ENST00000641114.1 | protein_coding | 2/2 | 1101/1548 | 751/930 | 251/309 | chr12 | TogoVar |