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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGR3_chr7_16854412_16886983 | 16880527 | C | CTCCCCTC others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 455 | 0.0022 | 30 | c.-28 others(47): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
AGTR1_chr3_148692903_148748003 | 148745773 | A | ATATTTTA others(23): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 HG02109.hp1 HG02132.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0001a0001c0003t0002others(1): Show | a0001c0001t0005g0211 a0001c0002t0001g0002 a0001c0002t0001g0013 others(15): Show |
20 | 63 | 0.3175 | 30 | c.*36 others(41): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2771 | chr3 | TogoVar | |||||||
AGT_chr1_230697523_230719122 | 230718722 | C | CTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 234 | 0.0043 | 30 | c.-46 others(41): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 4601 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129365628 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 a0001c0001t0002g0281 |
2 | 145 | 0.0138 | 30 | c.364 others(49): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135344926 | T | TCACACAC others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0006 | a0006c0007 | a0006c0007t0011 | a0006c0007t0011g0075 | 1 | 72 | 0.0139 | 30 | c.316 others(51): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18522.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0183 a0001c0001t0005g0187 a0001c0001t0005g0188 |
3 | 43 | 0.0698 | 30 | c.135 others(47): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0173 | 1 | 103 | 0.0097 | 30 | c.-10 others(47): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0004 | a0004c0003 | a0004c0003t0013 | a0004c0003t0013g0248 | 1 | 103 | 0.0097 | 30 | c.-10 others(47): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 443220 | G | GGGCGGAG others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0012 a0001c0001t0029g0013 |
2 | 240 | 0.0083 | 30 | c.*83 others(41): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4936 | chr5 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 66 | 0.0152 | 30 | c.297 others(47): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 47 | 0.0213 | 30 | c.135 others(45): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 47 | 0.0213 | 30 | c.135 others(45): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02886.hp1 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 a0001c0002t0001g0103 |
2 | 48 | 0.0417 | 30 | c.135 others(45): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02895.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0132 a0001c0002t0001g0131 |
2 | 48 | 0.0417 | 30 | c.135 others(45): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 47 | 0.0213 | 30 | c.135 others(45): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 47 | 0.0213 | 30 | c.135 others(45): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATCTCTCT others(23): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02015.hp1 HG02040.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0007a0001c0004t0005 | a0001c0002t0007g0282 a0001c0004t0005g0025 a0001c0004t0005g0212 others(1): Show |
6 | 202 | 0.0297 | 30 | c.276 others(45): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIP_chr11_67478026_67496103 | 67494793 | T | TGAGTGGG others(23): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 148 | 0.0068 | 30 | c.*38 others(41): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 3691 | chr11 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65172063 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0097 | 1 | 59 | 0.0169 | 30 | c.146 others(49): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77357992 | A | AGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0105 | 1 | 225 | 0.0044 | 30 | c.891 others(49): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 75 | 0.0133 | 30 | c.891 others(49): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367569 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0024 a0001c0001t0006g0227 |
2 | 138 | 0.0145 | 30 | c.891 others(49): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77391495 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 175 | 0.0057 | 30 | c.892 others(49): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96418322 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01071.hp2 others(20): Show |
a0001a0007a0012 | a0001c0001a0001c0006a0007c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0001g0055 others(20): Show |
23 | 53 | 0.4340 | 30 | c.499 others(47): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132821769 | G | GTATATGT others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01167.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0196 others(15): Show |
18 | 173 | 0.1040 | 30 | c.889 others(47): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132821770 | T | TATATGTG others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03209.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 others(1): Show |
4 | 257 | 0.0156 | 30 | c.889 others(47): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132821775 | G | TTGTATGT others(23): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02132.hp1 HG02148.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0173 others(1): Show |
4 | 195 | 0.0205 | 30 | c.889 others(47): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132822302 | T | TATATACA others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 264 | 0.0038 | 30 | c.889 others(45): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132822337 | A | ACATATAT others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 |
3 | 231 | 0.0130 | 30 | c.889 others(45): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19946252 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 274 | 0.0036 | 30 | c.976 others(47): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 5/14 | chr17 | TogoVar | |||||||
AKAP12_chr6_151234967_151363559 | 151256948 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG03486.hp2 others(2): Show |
a0001a0004a0005others(1): Show | a0001c0002a0004c0009a0005c0007others(1): Show | a0001c0002t0001a0001c0002t0014a0004c0009t0006others(2): Show | a0001c0002t0001g0249 a0001c0002t0014g0248 a0004c0009t0006g0071 others(2): Show |
5 | 136 | 0.0368 | 30 | c.162 others(49): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151304488 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0120 | 1 | 18 | 0.0556 | 30 | c.163 others(47): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85498199 | G | GATATAGA others(23): Show |
intron_variant | MODIFIER | NA19003.hp2 NA19068.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0007 | a0002c0001t0002g0192 a0002c0001t0007g0235 |
2 | 30 | 0.0667 | 30 | c.33+ others(47): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85498199 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02071.hp1 HG02976.hp2 |
a0002a0004 | a0002c0001a0004c0006 | a0002c0001t0002a0002c0001t0015a0004c0006t0014 | a0002c0001t0002g0241 a0002c0001t0015g0058 a0004c0006t0014g0077 |
3 | 31 | 0.0968 | 30 | c.33+ others(47): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1588052 | T | TCCTCCCT others(23): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02970.hp2 HG03139.hp1 others(9): Show |
a0001a0002a0008others(1): Show | a0001c0005a0002c0003a0008c0008others(1): Show | a0001c0005t0001a0001c0005t0011a0002c0003t0001others(4): Show | a0001c0005t0001g0020 a0001c0005t0001g0055 a0001c0005t0001g0056 others(9): Show |
12 | 147 | 0.0816 | 30 | c.-37 others(41): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3551 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1589065 | C | CTCCCCTC others(23): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG02976.hp1 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0002 | a0001c0004t0001g0046 a0001c0004t0001g0048 a0002c0002t0002g0047 |
3 | 146 | 0.0205 | 30 | c.-27 others(41): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2538 | chrX | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4624809 | G | GGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01928.hp1 HG02040.hp1 others(13): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0002c0009others(1): Show | a0001c0002t0002a0002c0003t0002a0002c0009t0001others(1): Show | a0001c0002t0002g0275 a0001c0002t0002g0277 a0001c0002t0002g0278 others(13): Show |
16 | 221 | 0.0724 | 30 | c.240 others(49): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4624824 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01261.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 others(11): Show |
21 | 269 | 0.0781 | 30 | c.240 others(49): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4626804 | A | ACTTGTCA others(23): Show |
conservative_inframe_insertion | MODERATE | HG02886.hp1 HG03041.hp1 HG03225.hp2 others(1): Show |
a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0023 a0008c0010t0001g0024 |
4 | 327 | 0.0122 | 30 | c.209 others(39): Show |
p.Lys others(43): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/6 | 2648/3334 | 2097/2562 | 699/853 | chr12 | TogoVar | |||
AKAP6_chr14_32324298_32842684 | 32404691 | G | GATAGATA others(23): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0005 | a0005c0050 | a0005c0050t0007 | a0005c0050t0007g0150 | 1 | 13 | 0.0769 | 30 | c.-34 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32404691 | G | GATAGATA others(23): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02602.hp1 HG03486.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0010a0002c0057others(3): Show | a0001c0001t0047a0001c0010t0006a0002c0057t0026others(3): Show | a0001c0001t0047g0128 a0001c0010t0006g0032 a0002c0057t0026g0003 others(3): Show |
6 | 18 | 0.3333 | 30 | c.-34 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32404691 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02886.hp2 HG02970.hp2 others(4): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0019a0003c0002others(3): Show | a0001c0001t0001a0001c0001t0020a0001c0019t0001others(4): Show | a0001c0001t0001g0029 a0001c0001t0020g0130 a0001c0019t0001g0002 others(4): Show |
7 | 19 | 0.3684 | 30 | c.-34 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32466827 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02615.hp2 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0002c0023others(3): Show | a0001c0001t0001a0002c0003t0006a0002c0003t0044others(5): Show | a0001c0001t0001g0139 a0002c0003t0006g0108 a0002c0003t0044g0110 others(5): Show |
8 | 81 | 0.0988 | 30 | c.324 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32492355 | T | TATATAGA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0004 | a0004c0040 | a0004c0040t0050 | a0004c0040t0050g0121 | 1 | 49 | 0.0204 | 30 | c.325 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32615167 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0082 | 1 | 33 | 0.0303 | 30 | c.273 others(51): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32780157 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0030a0001c0006t0010a0001c0006t0032 | a0001c0001t0030g0016 a0001c0006t0010g0144 a0001c0006t0032g0120 |
3 | 76 | 0.0395 | 30 | c.358 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKIRIN1_chr1_38986276_39011059 | 38994672 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 a0001c0001t0001g0210 |
2 | 18 | 0.1111 | 30 | c.220 others(47): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKNAD1_chr1_108810901_108862094 | 108817497 | A | AATTTTTT others(23): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 121 | 0.0083 | 30 | c.225 others(47): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 14/15 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243527890 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0295 | 1 | 299 | 0.0033 | 30 | c.125 others(51): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
ALAD_chr9_113381312_113406284 | 113381760 | C | CTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0003g0082 a0001c0001t0003g0188 |
3 | 144 | 0.0208 | 30 | c.*65 others(41): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 4551 | chr9 | TogoVar |