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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHNAK2_chr14_104932253_104983374 | 104945144 | A | T | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.103 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10444/18335 | 10307/17388 | 3436/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945165 | A | G | missense_variant | MODERATE | HG02723.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0079 | a0032c0021a0079c0043 | a0032c0021t0009a0079c0043t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0079c0043t0001g0074 |
3 | 354 | 0.0085 | 0 | c.102 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10423/18335 | 10286/17388 | 3429/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945173 | T | A | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.102 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10415/18335 | 10278/17388 | 3426/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945177 | G | A | missense_variant | MODERATE | HG01257.hp2 HG01258.hp1 HG02723.hp2 others(2): Show |
a0021a0032a0079 | a0021c0023a0032c0021a0079c0043 | a0021c0023t0001a0032c0021t0009a0079c0043t0001 | a0021c0023t0001g0021 a0032c0021t0009g0058 a0032c0021t0009g0059 others(1): Show |
5 | 354 | 0.0141 | 0 | c.102 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10411/18335 | 10274/17388 | 3425/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945178 | C | T | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.102 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10410/18335 | 10273/17388 | 3425/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945186 | A | C | missense_variant | MODERATE | HG02004.hp1 HG02723.hp2 |
a0059a0079 | a0059c0078a0079c0043 | a0059c0078t0002a0079c0043t0001 | a0059c0078t0002g0099 a0079c0043t0001g0074 |
2 | 352 | 0.0057 | 0 | c.102 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10402/18335 | 10265/17388 | 3422/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945186 | A | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 352 | 0.0057 | 0 | c.102 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10402/18335 | 10265/17388 | 3422/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945220 | C | T | missense_variant | MODERATE | HG02723.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0079 | a0032c0021a0079c0043 | a0032c0021t0009a0079c0043t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0079c0043t0001g0074 |
3 | 354 | 0.0085 | 0 | c.102 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10368/18335 | 10231/17388 | 3411/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945223 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.102 others(5): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10365/18335 | 10228/17388 | 3410/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945229 | T | C | missense_variant | MODERATE | HG00140.hp2 HG02723.hp2 HG02896.hp1 others(1): Show |
a0032a0039a0079 | a0032c0021a0039c0076a0079c0043 | a0032c0021t0009a0039c0076t0001a0079c0043t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0039c0076t0001g0089 others(1): Show |
4 | 354 | 0.0113 | 0 | c.102 others(5): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10359/18335 | 10222/17388 | 3408/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945234 | A | C | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.102 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10354/18335 | 10217/17388 | 3406/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945268 | C | G | missense_variant | MODERATE | HG02723.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0079 | a0032c0021a0079c0043 | a0032c0021t0009a0079c0043t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0079c0043t0001g0074 |
3 | 354 | 0.0085 | 0 | c.101 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10320/18335 | 10183/17388 | 3395/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945271 | C | A | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.101 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10317/18335 | 10180/17388 | 3394/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945300 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.101 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10288/18335 | 10151/17388 | 3384/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945306 | G | A | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.101 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10282/18335 | 10145/17388 | 3382/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945321 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.101 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10267/18335 | 10130/17388 | 3377/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945343 | C | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.101 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10245/18335 | 10108/17388 | 3370/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945354 | T | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.100 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10234/18335 | 10097/17388 | 3366/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945355 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.100 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10233/18335 | 10096/17388 | 3366/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945359 | G | T | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.100 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10229/18335 | 10092/17388 | 3364/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945361 | C | G | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.100 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10227/18335 | 10090/17388 | 3364/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945363 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(185): Show |
a0002a0003a0004others(72): Show | a0002c0003a0002c0005a0002c0036others(91): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(94): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(140): Show |
188 | 354 | 0.5311 | 0 | c.100 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10225/18335 | 10088/17388 | 3363/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945369 | G | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.100 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10219/18335 | 10082/17388 | 3361/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945372 | A | G | missense_variant | MODERATE | HG02723.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0079 | a0032c0021a0079c0043 | a0032c0021t0009a0079c0043t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0079c0043t0001g0074 |
3 | 354 | 0.0085 | 0 | c.100 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10216/18335 | 10079/17388 | 3360/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945376 | G | C | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.100 others(5): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10212/18335 | 10075/17388 | 3359/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945385 | G | T | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.100 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10203/18335 | 10066/17388 | 3356/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945393 | G | T | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.100 others(5): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10195/18335 | 10058/17388 | 3353/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945396 | T | C | missense_variant | MODERATE | HG02630.hp2 HG02922.hp1 HG03209.hp2 |
a0033a0075 | a0033c0025a0075c0063 | a0033c0025t0001a0075c0063t0001 | a0033c0025t0001g0023 a0075c0063t0001g0111 |
3 | 354 | 0.0085 | 0 | c.100 others(5): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10192/18335 | 10055/17388 | 3352/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945411 | A | G | missense_variant | MODERATE | NA19030.hp1 | a0110 | a0110c0048 | a0110c0048t0002 | a0110c0048t0002g0256 | 1 | 354 | 0.0028 | 0 | c.100 others(5): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10177/18335 | 10040/17388 | 3347/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945438 | G | A | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.100 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10150/18335 | 10013/17388 | 3338/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945444 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(177): Show |
a0002a0003a0004others(66): Show | a0002c0003a0002c0005a0002c0036others(85): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(88): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(133): Show |
180 | 354 | 0.5085 | 0 | c.100 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10144/18335 | 10007/17388 | 3336/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945462 | G | A | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.998 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10126/18335 | 9989/17388 | 3330/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945465 | G | A | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.998 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10123/18335 | 9986/17388 | 3329/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945469 | G | C | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.998 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10119/18335 | 9982/17388 | 3328/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945492 | G | A | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.995 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10096/18335 | 9959/17388 | 3320/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945496 | T | C | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.995 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10092/18335 | 9955/17388 | 3319/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945498 | T | A | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.995 others(4): Show |
p.Tyr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10090/18335 | 9953/17388 | 3318/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945634 | T | C | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.981 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9954/18335 | 9817/17388 | 3273/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945652 | C | T | missense_variant | MODERATE | HG02486.hp1 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0084 | 1 | 354 | 0.0028 | 0 | c.979 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9936/18335 | 9799/17388 | 3267/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945672 | A | G | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.977 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9916/18335 | 9779/17388 | 3260/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945729 | C | T | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 351 | 0.0028 | 0 | c.972 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9859/18335 | 9722/17388 | 3241/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945795 | C | T | missense_variant | MODERATE | HG01884.hp2 HG02717.hp2 HG02922.hp2 |
a0055a0078a0082 | a0055c0096a0078c0095a0082c0047 | a0055c0096t0001a0078c0095t0001a0082c0047t0001 | a0055c0096t0001g0255 a0078c0095t0001g0254 a0082c0047t0001g0077 |
3 | 354 | 0.0085 | 0 | c.965 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9793/18335 | 9656/17388 | 3219/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945819 | A | G | missense_variant | MODERATE | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 354 | 0.0028 | 0 | c.963 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9769/18335 | 9632/17388 | 3211/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945922 | G | C | missense_variant | MODERATE | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(118): Show |
a0003a0004a0005others(51): Show | a0003c0004a0003c0119a0004c0006others(61): Show | a0003c0004t0002a0003c0004t0005a0003c0119t0002others(62): Show | a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(92): Show |
121 | 354 | 0.3418 | 0 | c.952 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9666/18335 | 9529/17388 | 3177/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945923 | G | C | missense_variant | MODERATE | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(109): Show |
a0003a0004a0005others(43): Show | a0003c0004a0003c0119a0004c0006others(53): Show | a0003c0004t0002a0003c0004t0005a0003c0119t0002others(54): Show | a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(84): Show |
112 | 354 | 0.3164 | 0 | c.952 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9665/18335 | 9528/17388 | 3176/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946204 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(179): Show |
a0002a0003a0004others(68): Show | a0002c0003a0002c0005a0002c0036others(87): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(90): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(135): Show |
182 | 354 | 0.5141 | 0 | c.924 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9384/18335 | 9247/17388 | 3083/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946224 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(179): Show |
a0002a0003a0004others(68): Show | a0002c0003a0002c0005a0002c0036others(87): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(90): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(135): Show |
182 | 354 | 0.5141 | 0 | c.922 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9364/18335 | 9227/17388 | 3076/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946296 | G | A | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.915 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9292/18335 | 9155/17388 | 3052/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946321 | G | C | missense_variant | MODERATE | HG02630.hp2 HG03130.hp1 |
a0075a0086 | a0075c0063a0086c0099 | a0075c0063t0001a0086c0099t0001 | a0075c0063t0001g0111 a0086c0099t0001g0216 |
2 | 354 | 0.0056 | 0 | c.913 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9267/18335 | 9130/17388 | 3044/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104946366 | C | G | missense_variant | MODERATE | HG02015.hp2 HG02129.hp1 HG02165.hp2 others(2): Show |
a0002a0060a0097 | a0002c0036a0002c0147a0060c0142others(1): Show | a0002c0036t0002a0002c0147t0002a0060c0142t0002others(1): Show | a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0147t0002g0226 others(2): Show |
5 | 354 | 0.0141 | 0 | c.908 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 9222/18335 | 9085/17388 | 3029/5795 | chr14 | TogoVar |