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 | 104951727 | A | G | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(14): Show |
a0016a0022a0034others(8): Show | a0016c0019a0016c0113a0022c0020others(9): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(9): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(10): Show |
17 | 354 | 0.0480 | 0 | c.372 others(4): Show |
p.Phe others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3861/18335 | 3724/17388 | 1242/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951730 | C | T | missense_variant | MODERATE | HG02280.hp2 HG02965.hp1 |
a0023 | a0023c0016 | a0023c0016t0001 | a0023c0016t0001g0024 a0023c0016t0001g0093 |
2 | 354 | 0.0056 | 0 | c.372 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3858/18335 | 3721/17388 | 1241/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951747 | T | G | missense_variant | MODERATE | HG03688.hp1 | a0094 | a0094c0139 | a0094c0139t0002 | a0094c0139t0002g0207 | 1 | 354 | 0.0028 | 0 | c.370 others(4): Show |
p.His others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3841/18335 | 3704/17388 | 1235/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951782 | G | C | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(17): Show |
a0016a0022a0032others(10): Show | a0016c0019a0016c0113a0022c0020others(11): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(11): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(13): Show |
20 | 354 | 0.0565 | 0 | c.366 others(4): Show |
p.His others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3806/18335 | 3669/17388 | 1223/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951790 | C | T | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.366 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3798/18335 | 3661/17388 | 1221/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951799 | C | T | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.365 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3789/18335 | 3652/17388 | 1218/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951829 | T | C | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01517.hp1 others(19): Show |
a0001a0003a0016others(12): Show | a0001c0001a0003c0004a0016c0019others(13): Show | a0001c0001t0001a0003c0004t0002a0016c0019t0005others(13): Show | a0001c0001t0001g0061 a0003c0004t0002g0164 a0016c0019t0005g0014 others(15): Show |
22 | 354 | 0.0621 | 0 | c.362 others(4): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3759/18335 | 3622/17388 | 1208/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951845 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.360 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3743/18335 | 3606/17388 | 1202/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951886 | A | G | missense_variant | MODERATE | HG02055.hp2 HG02074.hp1 HG02451.hp1 others(5): Show |
a0012a0038a0061others(1): Show | a0012c0033a0012c0108a0012c0109others(3): Show | a0012c0033t0003a0012c0108t0003a0012c0109t0003others(3): Show | a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 others(5): Show |
8 | 354 | 0.0226 | 0 | c.356 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3702/18335 | 3565/17388 | 1189/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951897 | G | A | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.355 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3691/18335 | 3554/17388 | 1185/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951898 | A | T | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.355 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3690/18335 | 3553/17388 | 1185/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951904 | C | G | missense_variant | MODERATE | NA19043.hp2 | a0112 | a0112c0132 | a0112c0132t0015 | a0112c0132t0015g0258 | 1 | 354 | 0.0028 | 0 | c.354 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3684/18335 | 3547/17388 | 1183/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951905 | G | C | missense_variant | MODERATE | HG01074.hp2 HG02040.hp2 HG02738.hp2 |
a0028a0045 | a0028c0118a0028c0120a0045c0140 | a0028c0118t0002a0028c0120t0002a0045c0140t0002 | a0028c0118t0002g0202 a0028c0120t0002g0179 a0045c0140t0002g0253 |
3 | 354 | 0.0085 | 0 | c.354 others(4): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3683/18335 | 3546/17388 | 1182/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951927 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(104): Show |
a0002a0003a0011others(35): Show | a0002c0003a0002c0005a0002c0036others(49): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(51): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(81): Show |
107 | 354 | 0.3023 | 0 | c.352 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3661/18335 | 3524/17388 | 1175/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951936 | G | A | missense_variant | MODERATE | HG02572.hp1 | a0069 | a0069c0136 | a0069c0136t0002 | a0069c0136t0002g0257 | 1 | 354 | 0.0028 | 0 | c.351 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3652/18335 | 3515/17388 | 1172/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951939 | G | A | missense_variant | MODERATE | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(3): Show |
a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 others(1): Show |
6 | 354 | 0.0169 | 0 | c.351 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3649/18335 | 3512/17388 | 1171/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104951966 | C | T | missense_variant | MODERATE | HG02132.hp2 HG02155.hp2 NA18747.hp2 others(2): Show |
a0013a0110 | a0013c0015a0013c0060a0110c0048 | a0013c0015t0001a0013c0060t0001a0110c0048t0002 | a0013c0015t0001g0033 a0013c0015t0001g0195 a0013c0060t0001g0118 others(1): Show |
5 | 354 | 0.0141 | 0 | c.348 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3622/18335 | 3485/17388 | 1162/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952007 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(148): Show |
a0002a0003a0004others(53): Show | a0002c0003a0002c0005a0002c0036others(68): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(71): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(113): Show |
151 | 354 | 0.4266 | 0 | c.344 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3581/18335 | 3444/17388 | 1148/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952020 | C | T | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.343 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3568/18335 | 3431/17388 | 1144/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952021 | G | A | missense_variant | MODERATE | NA18953.hp1 NA19002.hp1 NA19004.hp2 others(4): Show |
a0009a0101 | a0009c0009a0101c0141 | a0009c0009t0002a0101c0141t0002 | a0009c0009t0002g0005 a0101c0141t0002g0219 |
7 | 354 | 0.0198 | 0 | c.343 others(4): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3567/18335 | 3430/17388 | 1144/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952027 | T | C | missense_variant | MODERATE | NA18953.hp1 NA19002.hp1 NA19004.hp2 others(4): Show |
a0009a0101 | a0009c0009a0101c0141 | a0009c0009t0002a0101c0141t0002 | a0009c0009t0002g0005 a0101c0141t0002g0219 |
7 | 354 | 0.0198 | 0 | c.342 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3561/18335 | 3424/17388 | 1142/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952042 | C | T | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.340 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3546/18335 | 3409/17388 | 1137/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952044 | G | A | missense_variant | MODERATE | HG03492.hp2 | a0091 | a0091c0126 | a0091c0126t0002 | a0091c0126t0002g0196 | 1 | 335 | 0.0030 | 0 | c.340 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3544/18335 | 3407/17388 | 1136/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952044 | G | C | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 353 | 0.0538 | 0 | c.340 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3544/18335 | 3407/17388 | 1136/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952051 | C | G | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.340 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3537/18335 | 3400/17388 | 1134/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952054 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(129): Show |
a0002a0003a0004others(41): Show | a0002c0003a0002c0005a0002c0036others(55): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(58): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(98): Show |
132 | 354 | 0.3729 | 0 | c.339 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3534/18335 | 3397/17388 | 1133/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952095 | G | A | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.335 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3493/18335 | 3356/17388 | 1119/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952098 | G | C | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.335 others(4): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3490/18335 | 3353/17388 | 1118/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952107 | G | A | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.334 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3481/18335 | 3344/17388 | 1115/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952116 | C | T | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.333 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3472/18335 | 3335/17388 | 1112/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952117 | T | C | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show |
a0016a0022a0032others(9): Show | a0016c0019a0016c0113a0022c0020others(10): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(10): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(12): Show |
19 | 354 | 0.0537 | 0 | c.333 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3471/18335 | 3334/17388 | 1112/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952144 | C | T | missense_variant | MODERATE | HG00609.hp1 HG01167.hp2 HG01884.hp1 others(17): Show |
a0016a0022a0032others(10): Show | a0016c0019a0016c0113a0022c0020others(11): Show | a0016c0019t0005a0016c0113t0002a0022c0020t0002others(11): Show | a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(13): Show |
20 | 283 | 0.0707 | 0 | c.330 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3444/18335 | 3307/17388 | 1103/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952146 | T | C | missense_variant | MODERATE | HG03225.hp1 | a0089 | a0089c0146 | a0089c0146t0003 | a0089c0146t0003g0140 | 1 | 354 | 0.0028 | 0 | c.330 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3442/18335 | 3305/17388 | 1102/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952165 | G | T | missense_variant | MODERATE | NA18995.hp1 | a0106 | a0106c0114 | a0106c0114t0001 | a0106c0114t0001g0176 | 1 | 354 | 0.0028 | 0 | c.328 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3423/18335 | 3286/17388 | 1096/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952167 | G | T | missense_variant | MODERATE | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(89): Show |
a0003a0004a0006others(39): Show | a0003c0004a0003c0119a0004c0006others(45): Show | a0003c0004t0002a0003c0004t0005a0003c0119t0002others(46): Show | a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(73): Show |
92 | 354 | 0.2599 | 0 | c.328 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3421/18335 | 3284/17388 | 1095/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952184 | G | C | missense_variant | MODERATE | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(43): Show |
a0003a0006a0016others(13): Show | a0003c0004a0003c0119a0006c0007others(16): Show | a0003c0004t0002a0003c0004t0005a0003c0119t0002others(17): Show | a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(30): Show |
46 | 353 | 0.1303 | 0 | c.326 others(4): Show |
p.Phe others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3404/18335 | 3267/17388 | 1089/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952407 | T | C | missense_variant | MODERATE | NA18954.hp2 | a0102 | a0102c0090 | a0102c0090t0001 | a0102c0090t0001g0113 | 1 | 354 | 0.0028 | 0 | c.304 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3181/18335 | 3044/17388 | 1015/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952489 | C | T | missense_variant | MODERATE | NA18956.hp1 | a0103 | a0103c0059 | a0103c0059t0001 | a0103c0059t0001g0199 | 1 | 354 | 0.0028 | 0 | c.296 others(4): Show |
p.Asp others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3099/18335 | 2962/17388 | 988/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952581 | C | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.287 others(4): Show |
p.Gly others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3007/18335 | 2870/17388 | 957/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952593 | G | A | missense_variant | MODERATE | HG00609.hp1 | a0040 | a0040c0123 | a0040c0123t0005 | a0040c0123t0005g0182 | 1 | 354 | 0.0028 | 0 | c.285 others(4): Show |
p.Thr others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 2995/18335 | 2858/17388 | 953/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952674 | A | G | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.277 others(4): Show |
p.Met others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 2914/18335 | 2777/17388 | 926/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952679 | G | T | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.277 others(4): Show |
p.Phe others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 2909/18335 | 2772/17388 | 924/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952798 | G | A | missense_variant | MODERATE | HG01978.hp1 | a0058 | a0058c0091 | a0058c0091t0001 | a0058c0091t0001g0233 | 1 | 354 | 0.0028 | 0 | c.265 others(4): Show |
p.Pro others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 2790/18335 | 2653/17388 | 885/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952885 | C | T | missense_variant | MODERATE | HG01884.hp1 HG02809.hp2 HG03130.hp1 others(2): Show |
a0054a0081a0086others(2): Show | a0054c0097a0081c0124a0086c0099others(2): Show | a0054c0097t0002a0081c0124t0002a0086c0099t0001others(2): Show | a0054c0097t0002g0247 a0081c0124t0002g0246 a0086c0099t0001g0216 others(2): Show |
5 | 354 | 0.0141 | 0 | c.256 others(4): Show |
p.Val others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 2703/18335 | 2566/17388 | 856/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104952897 | T | C | missense_variant | MODERATE | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(92): Show |
a0003a0004a0006others(42): Show | a0003c0004a0003c0119a0004c0006others(48): Show | a0003c0004t0002a0003c0004t0005a0003c0119t0002others(49): Show | a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(76): Show |
95 | 354 | 0.2684 | 0 | c.255 others(4): Show |
p.Met others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 2691/18335 | 2554/17388 | 852/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104953010 | C | T | missense_variant | MODERATE | HG00741.hp2 | a0044 | a0044c0131 | a0044c0131t0002 | a0044c0131t0002g0070 | 1 | 354 | 0.0028 | 0 | c.244 others(4): Show |
p.Arg others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 2578/18335 | 2441/17388 | 814/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104953035 | G | T | missense_variant | MODERATE | HG02074.hp1 | a0061 | a0061c0058 | a0061c0058t0001 | a0061c0058t0001g0242 | 1 | 354 | 0.0028 | 0 | c.241 others(4): Show |
p.Pro others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 2553/18335 | 2416/17388 | 806/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104953212 | G | T | missense_variant | MODERATE | HG00438.hp2 HG00558.hp1 HG02698.hp2 others(9): Show |
a0004a0100 | a0004c0006a0100c0093 | a0004c0006t0004a0100c0093t0010 | a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 others(6): Show |
12 | 354 | 0.0339 | 0 | c.223 others(4): Show |
p.Pro others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 2376/18335 | 2239/17388 | 747/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104953214 | C | G | missense_variant | MODERATE | HG01099.hp1 HG01168.hp2 HG02735.hp2 others(2): Show |
a0010a0047 | a0010c0012a0047c0094 | a0010c0012t0006a0047c0094t0013 | a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 others(2): Show |
5 | 354 | 0.0141 | 0 | c.223 others(4): Show |
p.Gly others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 2374/18335 | 2237/17388 | 746/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104953220 | G | A | missense_variant | MODERATE | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(90): Show |
a0003a0004a0006others(40): Show | a0003c0004a0003c0119a0004c0006others(46): Show | a0003c0004t0002a0003c0004t0005a0003c0119t0002others(47): Show | a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(74): Show |
93 | 354 | 0.2627 | 0 | c.223 others(4): Show |
p.Pro others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 2368/18335 | 2231/17388 | 744/5795 | chr14 | TogoVar |