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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NXN_chr17_794310_984776 | 948843 | CCTGCCTC others(12): Show |
C | intron_variant | MODIFIER | HG03704.hp2 HG03927.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0036 a0001c0001t0002g0056 a0001c0001t0003g0085 |
3 | 226 | 0.0133 | -19 | c.360 others(38): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949052 | TGCCTCCT others(12): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG03710.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0006 | a0001c0001t0001g0126 a0001c0009t0006g0159 |
2 | 223 | 0.0090 | -19 | c.360 others(38): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949278 | CCTGCCTC others(12): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 225 | 0.0044 | -19 | c.360 others(38): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949393 | CGGCCTCC others(12): Show |
C | intron_variant | MODIFIER | HG02738.hp2 HG03516.hp1 HG03654.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0017 a0001c0001t0002g0036 a0001c0001t0002g0079 others(3): Show |
6 | 237 | 0.0253 | -19 | c.360 others(38): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949544 | CCTGCCTC others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp1 HG01884.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0231 others(7): Show |
10 | 195 | 0.0513 | -19 | c.360 others(38): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXPE1_chr11_114513934_114564881 | 114540837 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00408.hp1 NA18941.hp1 NA18945.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0113 a0001c0001t0002g0117 |
7 | 62 | 0.1129 | -19 | c.100 others(36): Show |
NXPE1 | ENSG00000095110.9 | transcript | ENST00000534921.3 | protein_coding | 5/8 | chr11 | TogoVar | |||||||
NXPE2_chr11_114673527_114712069 | 114703680 | AGATAGAT others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(114): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0021 others(48): Show |
117 | 426 | 0.2746 | -19 | c.867 others(34): Show |
NXPE2 | ENSG00000204361.10 | transcript | ENST00000389586.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NXPE2_chr11_114673527_114712069 | 114703699 | TGATAGAT others(12): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01099.hp1 others(44): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0027 others(25): Show |
47 | 426 | 0.1103 | -19 | c.867 others(34): Show |
NXPE2 | ENSG00000204361.10 | transcript | ENST00000389586.6 | protein_coding | 3/5 | chr11 | TogoVar | |||||||
NYAP2_chr2_225394710_225708654 | 225622501 | CTTTTCTT others(12): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0171 a0001c0001t0021g0172 |
2 | 189 | 0.0106 | -19 | c.161 others(38): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | chr2 | TogoVar | |||||||
NYAP2_chr2_225394710_225708654 | 225622502 | TTTTCTTT others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01243.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0004g0047 a0001c0001t0004g0099 a0001c0001t0004g0112 others(14): Show |
17 | 180 | 0.0944 | -19 | c.161 others(38): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225622557 | CTTTTTCT others(12): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02074.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0032g0124 |
3 | 98 | 0.0306 | -19 | c.161 others(38): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225704812 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18951.hp1 NA19066.hp1 NA19066.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0034 a0001c0002t0001g0086 a0001c0003t0002g0147 |
3 | 18 | 0.1667 | -19 | c.*62 others(30): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 1159 | chr2 | TogoVar | |||||||
OAS1_chr12_112901962_112924903 | 112902332 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(345): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0010others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(83): Show |
348 | 353 | 0.9858 | -19 | c.-47 others(30): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 4629 | chr12 | TogoVar | |||||||
OAT_chr10_124392303_124423923 | 124408327 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 356 | 0.0028 | -19 | c.520 others(34): Show |
OAT | ENSG00000065154.12 | transcript | ENST00000368845.6 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
OBI1_chr13_78609289_78664155 | 78627985 | AGGAGCTT others(12): Show |
A | intron_variant | MODIFIER | HG02683.hp2 HG02717.hp1 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 others(3): Show |
6 | 294 | 0.0204 | -19 | c.638 others(36): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 5/5 | chr13 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 27769862 | ACCTCGGC others(12): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG01069.hp2 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0059 a0001c0001t0001g0077 a0001c0001t0001g0099 others(16): Show |
19 | 99 | 0.1919 | -19 | c.243 others(40): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 23/23 | chr15 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 27943340 | CCATCCTG others(12): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00558.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0059 others(17): Show |
20 | 108 | 0.1852 | -19 | c.195 others(38): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 18/23 | chr15 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 27972849 | TTTTATTT others(12): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 108 | 0.0093 | -19 | c.150 others(38): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 14/23 | chr15 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 28042643 | GTAAATAA others(12): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(61): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(37): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 others(61): Show |
64 | 108 | 0.5926 | -19 | c.228 others(38): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 2/23 | chr15 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 28055332 | CACTTGCA others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG01255.hp2 others(12): Show |
a0001a0007a0011others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(9): Show | a0001c0001t0001g0099 a0001c0001t0005g0108 a0001c0002t0001g0076 others(12): Show |
15 | 108 | 0.1389 | -19 | c.228 others(38): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 2/23 | chr15 | TogoVar | |||||||
ODAD1_chr19_48291462_48326971 | 48323329 | ACTAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00642.hp2 others(45): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002a0003c0004t0005others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0046 a0001c0001t0002g0047 others(26): Show |
48 | 396 | 0.1212 | -19 | c.-17 others(30): Show |
ODAD1 | ENSG00000105479.16 | transcript | ENST00000674294.1 | protein_coding | 1359 | chr19 | TogoVar | |||||||
ODAD3_chr19_11415605_11440121 | 11439605 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | NA19081.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0053 |
2 | 218 | 0.0092 | -19 | c.-46 others(30): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 4485 | chr19 | TogoVar | |||||||
ODF2_chr9_128451006_128506292 | 128455553 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(112): Show |
a0001a0004 | a0001c0001a0001c0007a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(92): Show |
115 | 118 | 0.9746 | -19 | c.-53 others(28): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 452 | chr9 | TogoVar | |||||||
ODF2_chr9_128451006_128506292 | 128467003 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0218 | 1 | 339 | 0.0029 | -19 | c.499 others(36): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128467005 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01515.hp2 HG03195.hp2 others(4): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0004a0001c0017t0001 | a0001c0001t0001g0211 a0001c0001t0001g0229 a0001c0001t0001g0247 others(4): Show |
7 | 335 | 0.0209 | -19 | c.499 others(36): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128467007 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03516.hp1 HG06807.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0195 a0001c0001t0001g0234 a0001c0001t0001g0240 others(7): Show |
10 | 324 | 0.0309 | -19 | c.499 others(36): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128467009 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02165.hp1 HG02615.hp2 HG04228.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0192 a0001c0001t0001g0196 others(16): Show |
20 | 314 | 0.0637 | -19 | c.499 others(36): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128467011 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02155.hp2 HG04184.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0216 a0001c0001t0001g0233 others(5): Show |
8 | 323 | 0.0248 | -19 | c.499 others(36): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128467013 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03490.hp1 NA18995.hp1 |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0001a0008c0013t0001 | a0001c0001t0001g0012 a0008c0013t0001g0219 |
2 | 341 | 0.0059 | -19 | c.499 others(36): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128470007 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA18949.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 a0001c0001t0001g0287 |
2 | 341 | 0.0059 | -19 | c.669 others(34): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128470009 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 343 | 0.0029 | -19 | c.669 others(34): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128470011 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0278 | 1 | 344 | 0.0029 | -19 | c.669 others(34): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OGFOD3_chr17_82384210_82423586 | 82386304 | TGTCCCAG others(12): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(124): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0162 a0001c0001t0002g0188 a0001c0001t0002g0190 others(118): Show |
127 | 346 | 0.3671 | -19 | c.*60 others(30): Show |
OGFOD3 | ENSG00000181396.13 | transcript | ENST00000313056.10 | protein_coding | 2905 | chr17 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174091869 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG02486.hp2 HG03195.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0002g0045 a0001c0001t0002g0186 a0001c0001t0002g0221 others(4): Show |
7 | 23 | 0.3043 | -19 | c.729 others(36): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174163710 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 260 | 0.0038 | -19 | c.374 others(38): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135091160 | ACTCCCCA others(12): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 358 | 0.0028 | -19 | c.300 others(34): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
OLFM2_chr19_9848718_9941515 | 9901109 | GAAGGAAG others(12): Show |
G | intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0244 | 1 | 340 | 0.0029 | -19 | c.63+ others(36): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
OLFM3_chr1_101797560_102001926 | 101936170 | ACTCAAAC others(12): Show |
A | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 304 | 0.0033 | -19 | c.69+ others(36): Show |
OLFM3 | ENSG00000118733.17 | transcript | ENST00000370103.9 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
OMA1_chr1_58475719_58551726 | 58518277 | GGAGAAGA others(12): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0014 | 1 | 214 | 0.0047 | -19 | c.121 others(38): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
OMA1_chr1_58475719_58551726 | 58541293 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02155.hp2 HG03579.hp2 others(4): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0129 others(4): Show |
7 | 16 | 0.4375 | -19 | c.-16 others(36): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
OPA1_chr3_193588208_193702811 | 193688449 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0001c0001t0004a0004c0006t0008 | a0001c0001t0002g0066 a0001c0001t0002g0273 a0001c0001t0004g0049 others(3): Show |
6 | 156 | 0.0385 | -19 | c.298 others(38): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OPA3_chr19_45541281_45589802 | 45559393 | CTTTCTTT others(12): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0081a0001c0001t0082 | a0001c0001t0081g0052 a0001c0001t0082g0053 |
2 | 323 | 0.0062 | -19 | c.143 others(36): Show |
OPA3 | ENSG00000125741.6 | transcript | ENST00000263275.5 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
OPA3_chr19_45541281_45589802 | 45576385 | AGCCAGGT others(12): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0248 | 1 | 395 | 0.0025 | -19 | c.142 others(36): Show |
OPA3 | ENSG00000125741.6 | transcript | ENST00000263275.5 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 132975529 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01516.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0009 a0001c0001t0010g0061 |
2 | 3 | 0.6667 | -19 | c.62- others(36): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133084236 | ACCTTGGC others(12): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 68 | 0.0147 | -19 | c.62- others(38): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133125874 | GACACATG others(12): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02965.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0004g0027 others(2): Show |
5 | 68 | 0.0735 | -19 | c.62- others(38): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133410634 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 6 | 0.1667 | -19 | c.61+ others(38): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPHN1_chrX_68037344_68438495 | 68317532 | AAAGAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 153 | 0.0065 | -19 | c.155 others(38): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
OPRD1_chr1_28807170_28876267 | 28846847 | TTTCTTTC others(12): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00597.hp1 others(128): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0006 a0001c0001t0001g0081 a0001c0001t0001g0096 others(125): Show |
131 | 300 | 0.4367 | -19 | c.228 others(38): Show |
OPRD1 | ENSG00000116329.12 | transcript | ENST00000234961.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OPRD1_chr1_28807170_28876267 | 28864990 | TTTCCCCC others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02922.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0011 a0001c0001t0029g0241 |
2 | 302 | 0.0066 | -19 | c.*17 others(30): Show |
OPRD1 | ENSG00000116329.12 | transcript | ENST00000234961.7 | protein_coding | 3/3 | 1708 | chr1 | TogoVar |