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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGO2_chr8_140515156_140640633 | 140610028 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG01975.hp2 HG02055.hp2 HG02109.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0014a0001c0001t0034a0001c0001t0066others(9): Show | a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176 others(20): Show |
23 | 108 | 0.2130 | -11 | c.23- others(28): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140612220 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0069a0001c0007t0071 | a0001c0001t0069g0187 a0001c0007t0071g0188 |
2 | 19 | 0.1053 | -11 | c.22+ others(28): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140633239 | GAGTCTCA others(4): Show |
G | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0004 | a0001c0004t0121 | a0001c0004t0121g0006 | 1 | 336 | 0.0030 | -11 | c.22+ others(26): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AGO3_chr1_35926105_36077500 | 35952133 | TTTCTTTC others(4): Show |
T | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0006 | a0001c0006t0029 | a0001c0006t0029g0013 | 1 | 256 | 0.0039 | -11 | c.191 others(28): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 35994042 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0188 | 1 | 91 | 0.0110 | -11 | c.659 others(30): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36022922 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02559.hp1 HG02886.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0017a0001c0001t0023others(6): Show | a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0110 others(12): Show |
15 | 256 | 0.0586 | -11 | c.140 others(30): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36030003 | CTACATGT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp1 others(104): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(104): Show |
107 | 256 | 0.4180 | -11 | c.159 others(30): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 12/18 | chr1 | TogoVar | |||||||
AGO3_chr1_35926105_36077500 | 36039492 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0036 | 1 | 121 | 0.0083 | -11 | c.184 others(28): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36046623 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0043 | 1 | 17 | 0.0588 | -11 | c.227 others(30): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO4_chr1_35803016_35862890 | 35805129 | GTTTTTCT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0070 | 1 | 268 | 0.0037 | -11 | c.-32 others(22): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 2886 | chr1 | TogoVar | |||||||
AGO4_chr1_35803016_35862890 | 35813790 | AGAAGGAA others(4): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004a0001c0003t0013 | a0001c0003t0001g0150 a0001c0003t0004g0152 a0001c0003t0004g0154 others(3): Show |
6 | 268 | 0.0224 | -11 | c.20- others(26): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43926636 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0045 | 1 | 64 | 0.0156 | -11 | c.-49 others(30): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43974547 | ATGTGTGT others(4): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02559.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020a0001c0001t0025others(2): Show | a0001c0001t0019g0069 a0001c0001t0019g0323 a0001c0001t0019g0330 others(7): Show |
10 | 338 | 0.0296 | -11 | c.767 others(28): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGPAT5_chr8_6703642_6766503 | 6727371 | TTTTGACA others(4): Show |
T | intron_variant | MODIFIER | HG03516.hp1 HG03516.hp2 |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0041 | a0001c0003t0013g0068 a0001c0003t0041g0111 |
2 | 402 | 0.0050 | -11 | c.289 others(28): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1041101 | CGGAGCGG others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(177): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0004a0001c0006others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(169): Show |
180 | 208 | 0.8654 | -11 | c.728 others(24): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1048767 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0002a0001c0004others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(129): Show |
140 | 173 | 0.8092 | -11 | c.410 others(26): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 23/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85572004 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0288 others(2): Show |
5 | 108 | 0.0463 | -11 | c.350 others(30): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85600239 | GCCTTCCT others(4): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01884.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 others(1): Show |
4 | 300 | 0.0133 | -11 | c.233 others(30): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 17/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85682172 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(1): Show |
4 | 108 | 0.0370 | -11 | c.158 others(26): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | |||||||
AGTR1_chr3_148692903_148748003 | 148744556 | ATTTATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02622.hp2 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 a0001c0001t0005g0037 a0001c0001t0005g0170 others(4): Show |
8 | 348 | 0.0230 | -11 | c.*24 others(22): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 1554 | chr3 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240883694 | CTTTTCTT others(4): Show |
C | downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0042 | 1 | 251 | 0.0040 | -11 | c.*48 others(22): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3195 | chr2 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246834949 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(114): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(17): Show | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 others(114): Show |
117 | 202 | 0.5792 | -11 | c.*58 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4148 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246836011 | TCTAAAGC others(4): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 374 | 0.0027 | -11 | c.*47 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 3086 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246864846 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG02074.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0032 a0002c0002t0001g0055 |
2 | 287 | 0.0070 | -11 | c.334 others(28): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 26/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246878396 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0044 | a0001c0044t0002 | a0001c0044t0002g0149 | 1 | 87 | 0.0115 | -11 | c.266 others(30): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 21/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246892301 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0022 | a0022c0038 | a0022c0038t0001 | a0022c0038t0001g0026 | 1 | 62 | 0.0161 | -11 | c.180 others(28): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 14/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246936462 | AAAAAAAC others(4): Show |
A | upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 374 | 0.0027 | -11 | c.-49 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4515 | chr1 | TogoVar | |||||||
AHCYL1_chr1_109979765_110028742 | 109982435 | TAAAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0161 |
2 | 62 | 0.0323 | -11 | c.-26 others(22): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2329 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129229061 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03195.hp2 NA18942.hp1 NA18987.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0055 a0001c0001t0002g0054 a0001c0002t0002g0191 |
3 | 25 | 0.1200 | -11 | c.363 others(28): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCY_chr20_34275268_34308355 | 34300481 | ACTTCAGG others(4): Show |
A | intron_variant | MODIFIER | NA18953.hp1 NA18960.hp1 NA18966.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0147 |
4 | 298 | 0.0134 | -11 | c.28+ others(26): Show |
AHCY | ENSG00000101444.13 | transcript | ENST00000217426.7 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
AHCY_chr20_34275268_34308355 | 34300554 | CAAGCACC others(4): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01169.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0037 others(13): Show |
28 | 298 | 0.0940 | -11 | c.28+ others(26): Show |
AHCY | ENSG00000101444.13 | transcript | ENST00000217426.7 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27534250 | TTTTTTTT others(4): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02273.hp2 HG03491.hp1 others(7): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0003a0001c0020t0003 | a0001c0001t0003g0002 a0001c0001t0003g0030 a0001c0001t0003g0041 others(6): Show |
10 | 178 | 0.0562 | -11 | c.*69 others(20): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 9/9 | 13043 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27565673 | GATAGTAT others(4): Show |
G | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 178 | 0.0056 | -11 | c.-62 others(30): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135293395 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01928.hp2 others(18): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0042 a0001c0001t0002g0074 a0001c0001t0002g0092 others(18): Show |
21 | 218 | 0.0963 | -11 | c.348 others(30): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135363036 | TTTATTTT others(4): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0021 | a0001c0021t0010 | a0001c0021t0010g0181 | 1 | 218 | 0.0046 | -11 | c.311 others(30): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374098 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 215 | 0.0047 | -11 | c.311 others(32): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374100 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01109.hp2 others(12): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0087 others(12): Show |
15 | 197 | 0.0761 | -11 | c.311 others(32): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374102 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01884.hp1 HG02040.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0060 a0001c0001t0002g0092 a0001c0001t0002g0170 others(5): Show |
8 | 183 | 0.0437 | -11 | c.311 others(32): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374104 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03710.hp1 HG03834.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0002t0001g0025 others(5): Show |
8 | 201 | 0.0398 | -11 | c.311 others(32): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374106 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02145.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0017a0001c0002t0001 | a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 others(3): Show |
6 | 195 | 0.0308 | -11 | c.311 others(32): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135376881 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG03710.hp2 HG03834.hp2 others(4): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0001a0001c0002t0004a0001c0014t0004 | a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0004g0022 others(4): Show |
7 | 42 | 0.1667 | -11 | c.310 others(32): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135382923 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 186 | 0.0054 | -11 | c.310 others(32): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135398058 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0021 | a0001c0021t0010 | a0001c0021t0010g0181 | 1 | 58 | 0.0172 | -11 | c.298 others(30): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 22/28 | chr6 | TogoVar | |||||||
AHNAK2_chr14_104932253_104983374 | 104960383 | TATTTACA others(4): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0014 | a0014c0144 | a0014c0144t0003 | a0014c0144t0003g0128 | 1 | 354 | 0.0028 | -11 | c.56- others(26): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 340678 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(2): Show | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0006g0262 others(3): Show |
6 | 265 | 0.0226 | -11 | c.-10 others(28): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340684 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0045 | a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0012g0254 others(1): Show |
4 | 250 | 0.0160 | -11 | c.-10 others(28): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340686 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0005 | a0005c0005t0038 | a0005c0005t0038g0024 | 1 | 240 | 0.0042 | -11 | c.-10 others(28): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 376343 | CCTCAGGC others(4): Show |
C | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 266 | 0.0038 | -11 | c.245 others(26): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 412715 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0007 | a0007c0007 | a0007c0007t0023 | a0007c0007t0023g0224 | 1 | 156 | 0.0064 | -11 | c.352 others(26): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 441497 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01256.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0043 a0002c0002t0006g0090 |
2 | 14 | 0.1429 | -11 | c.*66 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar |