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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHNAK2_chr14_104932253_104983374 | 104943745 | C | G | missense_variant | MODERATE | HG02280.hp1 HG02630.hp2 HG02723.hp2 others(3): Show |
a0036a0064a0133others(2): Show | a0036c0030a0064c0165a0133c0097others(2): Show | a0036c0030t0001a0064c0165t0001a0133c0097t0001others(2): Show | a0036c0030t0001g0018a0064c0165t0001g0247a0133c0097t0001g0116others(2): Show | 6 | 356 | 0.0169 | 0 | c.117 others(5): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11843/18335 | 11706/17388 | 3902/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943846 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(187): Show |
a0001a0004a0006others(113): Show | a0001c0001a0001c0003a0001c0045others(130): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(130): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(155): Show | 190 | 356 | 0.5337 | 0 | c.116 others(5): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11742/18335 | 11605/17388 | 3869/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943942 | C | T | missense_variant | MODERATE | HG03041.hp1 | a0160 | a0160c0078 | a0160c0078t0001 | a0160c0078t0001g0117 | 1 | 356 | 0.0028 | 0 | c.115 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11646/18335 | 11509/17388 | 3837/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943992 | T | C | missense_variant | MODERATE | HG02698.hp2 | a0056 | a0056c0159 | a0056c0159t0004 | a0056c0159t0004g0042 | 1 | 356 | 0.0028 | 0 | c.114 others(5): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11596/18335 | 11459/17388 | 3820/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944074 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(187): Show |
a0001a0004a0006others(113): Show | a0001c0001a0001c0003a0001c0045others(130): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(130): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(155): Show | 190 | 356 | 0.5337 | 0 | c.113 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11514/18335 | 11377/17388 | 3793/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944085 | A | C | missense_variant | MODERATE | NA18970.hp1 | a0058 | a0058c0155 | a0058c0155t0004 | a0058c0155t0004g0047 | 1 | 356 | 0.0028 | 0 | c.113 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11503/18335 | 11366/17388 | 3789/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944119 | C | T | missense_variant | MODERATE | HG02698.hp1 HG03491.hp1 HG03492.hp1 others(1): Show |
a0031a0118a0119 | a0031c0046a0118c0230a0119c0228 | a0031c0046t0002a0118c0230t0002a0119c0228t0002 | a0031c0046t0002g0250a0031c0046t0002g0257a0118c0230t0002g0262others(1): Show | 4 | 356 | 0.0112 | 0 | c.113 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11469/18335 | 11332/17388 | 3778/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944134 | C | T | missense_variant | MODERATE | HG02280.hp1 HG02630.hp2 HG02922.hp1 others(1): Show |
a0036a0133a0191 | a0036c0030a0133c0097a0191c0150 | a0036c0030t0001a0133c0097t0001a0191c0150t0001 | a0036c0030t0001g0018a0133c0097t0001g0116a0191c0150t0001g0090 | 4 | 356 | 0.0112 | 0 | c.113 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11454/18335 | 11317/17388 | 3773/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944446 | C | G | missense_variant | MODERATE | NA18950.hp1 | a0140 | a0140c0093 | a0140c0093t0001 | a0140c0093t0001g0210 | 1 | 356 | 0.0028 | 0 | c.110 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11142/18335 | 11005/17388 | 3669/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944490 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(185): Show |
a0001a0004a0006others(111): Show | a0001c0001a0001c0003a0001c0045others(128): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(128): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(153): Show | 188 | 356 | 0.5281 | 0 | c.109 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11098/18335 | 10961/17388 | 3654/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944742 | T | G | missense_variant | MODERATE | NA18961.hp2 NA19012.hp1 |
a0186a0187 | a0186c0132a0187c0131 | a0186c0132t0001a0187c0131t0001 | a0186c0132t0001g0290a0187c0131t0001g0289 | 2 | 356 | 0.0056 | 0 | c.107 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10846/18335 | 10709/17388 | 3570/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944754 | G | A | missense_variant | MODERATE | HG02055.hp2 HG02258.hp2 HG02451.hp2 others(23): Show |
a0028a0032a0034others(20): Show | a0028c0019a0032c0050a0034c0048others(20): Show | a0028c0019t0009a0032c0050t0003a0034c0048t0003others(20): Show | a0028c0019t0009g0049a0028c0019t0009g0050a0032c0050t0003g0136others(22): Show | 26 | 356 | 0.0730 | 0 | c.106 others(5): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10834/18335 | 10697/17388 | 3566/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944759 | T | G | missense_variant | MODERATE | HG02055.hp2 HG02258.hp2 HG02451.hp2 others(23): Show |
a0028a0032a0034others(20): Show | a0028c0019a0032c0050a0034c0048others(20): Show | a0028c0019t0009a0032c0050t0003a0034c0048t0003others(20): Show | a0028c0019t0009g0049a0028c0019t0009g0050a0032c0050t0003g0136others(22): Show | 26 | 356 | 0.0730 | 0 | c.106 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10829/18335 | 10692/17388 | 3564/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944773 | C | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.106 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10815/18335 | 10678/17388 | 3560/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944800 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.106 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10788/18335 | 10651/17388 | 3551/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944812 | G | A | missense_variant | MODERATE | HG00642.hp2 HG00738.hp1 |
a0046 | a0046c0032 | a0046c0032t0002 | a0046c0032t0002g0019 | 2 | 356 | 0.0056 | 0 | c.106 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10776/18335 | 10639/17388 | 3547/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944826 | A | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.106 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10762/18335 | 10625/17388 | 3542/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944833 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.106 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10755/18335 | 10618/17388 | 3540/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944847 | A | C | missense_variant | MODERATE | HG02280.hp2 HG02896.hp1 HG02897.hp2 others(2): Show |
a0028a0141a0188others(1): Show | a0028c0019a0141c0092a0188c0074others(1): Show | a0028c0019t0009a0141c0092t0001a0188c0074t0001others(1): Show | a0028c0019t0009g0049a0028c0019t0009g0050a0141c0092t0001g0096others(2): Show | 5 | 356 | 0.0140 | 0 | c.106 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10741/18335 | 10604/17388 | 3535/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944874 | G | A | missense_variant | MODERATE | HG01168.hp2 | a0059 | a0059c0161 | a0059c0161t0013 | a0059c0161t0013g0128 | 1 | 356 | 0.0028 | 0 | c.105 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10714/18335 | 10577/17388 | 3526/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944874 | G | T | missense_variant | MODERATE | HG01099.hp2 HG01255.hp2 HG02257.hp1 others(3): Show |
a0026a0071a0072others(2): Show | a0026c0042a0071c0177a0072c0178others(2): Show | a0026c0042t0002a0071c0177t0002a0072c0178t0002others(2): Show | a0026c0042t0002g0124a0026c0042t0002g0295a0071c0177t0002g0144others(3): Show | 6 | 356 | 0.0169 | 0 | c.105 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10714/18335 | 10577/17388 | 3526/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944884 | T | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.105 others(5): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10704/18335 | 10567/17388 | 3523/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944890 | G | T | missense_variant | MODERATE | HG01175.hp2 | a0084 | a0084c0181 | a0084c0181t0002 | a0084c0181t0002g0159 | 1 | 356 | 0.0028 | 0 | c.105 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10698/18335 | 10561/17388 | 3521/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944899 | C | T | missense_variant | MODERATE | HG01168.hp2 HG01175.hp2 HG01256.hp2 others(1): Show |
a0059a0084a0137others(1): Show | a0059c0161a0084c0181a0137c0094others(1): Show | a0059c0161t0013a0084c0181t0002a0137c0094t0001others(1): Show | a0059c0161t0013g0128a0084c0181t0002g0159a0137c0094t0001g0111others(1): Show | 4 | 356 | 0.0112 | 0 | c.105 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10689/18335 | 10552/17388 | 3518/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944923 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00741.hp2 HG01433.hp2 others(10): Show |
a0022a0028a0037others(6): Show | a0022c0044a0022c0215a0028c0019others(7): Show | a0022c0044t0002a0022c0215t0002a0028c0019t0009others(7): Show | a0022c0044t0002g0057a0022c0044t0002g0059a0022c0215t0002g0224others(10): Show | 13 | 356 | 0.0365 | 0 | c.105 others(5): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10665/18335 | 10528/17388 | 3510/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944932 | C | T | missense_variant | MODERATE | HG03516.hp1 | a0146 | a0146c0090 | a0146c0090t0001 | a0146c0090t0001g0113 | 1 | 356 | 0.0028 | 0 | c.105 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10656/18335 | 10519/17388 | 3507/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944943 | A | G | missense_variant | MODERATE | HG01891.hp2 | a0099 | a0099c0061 | a0099c0061t0001 | a0099c0061t0001g0091 | 1 | 356 | 0.0028 | 0 | c.105 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10645/18335 | 10508/17388 | 3503/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944949 | G | A | missense_variant | MODERATE | HG01074.hp1 HG01192.hp2 HG01256.hp2 others(5): Show |
a0039a0041a0134others(3): Show | a0039c0028a0041c0083a0041c0099others(4): Show | a0039c0028t0001a0039c0028t0014a0041c0083t0001others(5): Show | a0039c0028t0001g0214a0039c0028t0014g0215a0041c0083t0001g0216others(5): Show | 8 | 356 | 0.0225 | 0 | c.105 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10639/18335 | 10502/17388 | 3501/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944950 | G | A | missense_variant | MODERATE | HG01074.hp1 HG01192.hp2 HG01256.hp2 others(5): Show |
a0039a0041a0134others(3): Show | a0039c0028a0041c0083a0041c0099others(4): Show | a0039c0028t0001a0039c0028t0014a0041c0083t0001others(5): Show | a0039c0028t0001g0214a0039c0028t0014g0215a0041c0083t0001g0216others(5): Show | 8 | 356 | 0.0225 | 0 | c.105 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10638/18335 | 10501/17388 | 3501/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944956 | A | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.104 others(5): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10632/18335 | 10495/17388 | 3499/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944965 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.104 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10623/18335 | 10486/17388 | 3496/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944975 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.104 others(5): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10613/18335 | 10476/17388 | 3492/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944982 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.104 others(5): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10606/18335 | 10469/17388 | 3490/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104944997 | A | G | missense_variant | MODERATE | HG02723.hp2 | a0204 | a0204c0053 | a0204c0053t0001 | a0204c0053t0001g0065 | 1 | 356 | 0.0028 | 0 | c.104 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10591/18335 | 10454/17388 | 3485/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104945001 | C | T | missense_variant | MODERATE | HG02723.hp2 | a0204 | a0204c0053 | a0204c0053t0001 | a0204c0053t0001g0065 | 1 | 356 | 0.0028 | 0 | c.104 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10587/18335 | 10450/17388 | 3484/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104945003 | A | T | missense_variant | MODERATE | HG02723.hp2 | a0204 | a0204c0053 | a0204c0053t0001 | a0204c0053t0001g0065 | 1 | 356 | 0.0028 | 0 | c.104 others(5): Show |
p.Phe others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10585/18335 | 10448/17388 | 3483/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104945055 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.103 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10533/18335 | 10396/17388 | 3466/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104945056 | A | C | missense_variant | MODERATE | NA19085.hp1 | a0174 | a0174c0110 | a0174c0110t0001 | a0174c0110t0001g0276 | 1 | 356 | 0.0028 | 0 | c.103 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10532/18335 | 10395/17388 | 3465/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104945062 | T | G | missense_variant | MODERATE | HG02723.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0028a0174a0204 | a0028c0019a0174c0110a0204c0053 | a0028c0019t0009a0174c0110t0001a0204c0053t0001 | a0028c0019t0009g0049a0028c0019t0009g0050a0174c0110t0001g0276others(1): Show | 4 | 356 | 0.0112 | 0 | c.103 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10526/18335 | 10389/17388 | 3463/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104945112 | T | C | missense_variant | MODERATE | HG02723.hp2 HG02896.hp1 HG02897.hp2 |
a0028a0204 | a0028c0019a0204c0053 | a0028c0019t0009a0204c0053t0001 | a0028c0019t0009g0049a0028c0019t0009g0050a0204c0053t0001g0065 | 3 | 356 | 0.0084 | 0 | c.103 others(5): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10476/18335 | 10339/17388 | 3447/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104945121 | G | C | missense_variant | MODERATE | HG02723.hp2 HG02896.hp1 HG02897.hp2 |
a0028a0204 | a0028c0019a0204c0053 | a0028c0019t0009a0204c0053t0001 | a0028c0019t0009g0049a0028c0019t0009g0050a0204c0053t0001g0065 | 3 | 356 | 0.0084 | 0 | c.103 others(5): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10467/18335 | 10330/17388 | 3444/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104945136 | C | T | missense_variant | MODERATE | HG02723.hp2 | a0204 | a0204c0053 | a0204c0053t0001 | a0204c0053t0001g0065 | 1 | 356 | 0.0028 | 0 | c.103 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10452/18335 | 10315/17388 | 3439/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104945144 | A | T | missense_variant | MODERATE | HG02723.hp2 | a0204 | a0204c0053 | a0204c0053t0001 | a0204c0053t0001g0065 | 1 | 356 | 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 |
a0028a0204 | a0028c0019a0204c0053 | a0028c0019t0009a0204c0053t0001 | a0028c0019t0009g0049a0028c0019t0009g0050a0204c0053t0001g0065 | 3 | 356 | 0.0084 | 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 | a0204 | a0204c0053 | a0204c0053t0001 | a0204c0053t0001g0065 | 1 | 356 | 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 |
a0028a0050a0204 | a0028c0019a0050c0020a0204c0053 | a0028c0019t0009a0050c0020t0001a0204c0053t0001 | a0028c0019t0009g0049a0028c0019t0009g0050a0050c0020t0001g0016others(1): Show | 5 | 356 | 0.0140 | 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 | a0204 | a0204c0053 | a0204c0053t0001 | a0204c0053t0001g0065 | 1 | 356 | 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 |
a0183a0204 | a0183c0130a0204c0053 | a0183c0130t0002a0204c0053t0001 | a0183c0130t0002g0105a0204c0053t0001g0065 | 2 | 356 | 0.0056 | 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 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 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 |
a0028a0204 | a0028c0019a0204c0053 | a0028c0019t0009a0204c0053t0001 | a0028c0019t0009g0049a0028c0019t0009g0050a0204c0053t0001g0065 | 3 | 356 | 0.0084 | 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 |