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 | 104950569 | C | T | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.488 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5019/18335 | 4882/17388 | 1628/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950574 | A | G | missense_variant | MODERATE | HG02723.hp2 | a0204 | a0204c0053 | a0204c0053t0001 | a0204c0053t0001g0065 | 1 | 356 | 0.0028 | 0 | c.487 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5014/18335 | 4877/17388 | 1626/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950581 | T | C | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02056.hp1 others(9): Show |
a0020a0061a0069others(7): Show | a0020c0018a0061c0166a0069c0184others(7): Show | a0020c0018t0002a0061c0166t0002a0069c0184t0002others(7): Show | a0020c0018t0002g0009a0061c0166t0002g0293a0069c0184t0002g0209others(7): Show | 12 | 356 | 0.0337 | 0 | c.487 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5007/18335 | 4870/17388 | 1624/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950587 | A | G | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02056.hp1 others(8): Show |
a0020a0061a0064others(6): Show | a0020c0018a0061c0166a0064c0165others(6): Show | a0020c0018t0002a0061c0166t0002a0064c0165t0001others(6): Show | a0020c0018t0002g0009a0061c0166t0002g0293a0064c0165t0001g0247others(6): Show | 11 | 356 | 0.0309 | 0 | c.486 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5001/18335 | 4864/17388 | 1622/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950589 | A | T | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.486 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4999/18335 | 4862/17388 | 1621/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950594 | C | A | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show |
a0061a0069a0080others(2): Show | a0061c0166a0069c0184a0080c0180others(2): Show | a0061c0166t0002a0069c0184t0002a0080c0180t0002others(2): Show | a0061c0166t0002g0293a0069c0184t0002g0209a0080c0180t0002g0181others(2): Show | 5 | 356 | 0.0140 | 0 | c.485 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4994/18335 | 4857/17388 | 1619/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950596 | T | C | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02056.hp1 others(8): Show |
a0020a0061a0064others(6): Show | a0020c0018a0061c0166a0064c0165others(6): Show | a0020c0018t0002a0061c0166t0002a0064c0165t0001others(6): Show | a0020c0018t0002g0009a0061c0166t0002g0293a0064c0165t0001g0247others(6): Show | 11 | 356 | 0.0309 | 0 | c.485 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4992/18335 | 4855/17388 | 1619/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950597 | C | A | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.485 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4991/18335 | 4854/17388 | 1618/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950598 | T | G | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.485 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4990/18335 | 4853/17388 | 1618/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950599 | T | C | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02056.hp1 others(8): Show |
a0020a0061a0064others(6): Show | a0020c0018a0061c0166a0064c0165others(6): Show | a0020c0018t0002a0061c0166t0002a0064c0165t0001others(6): Show | a0020c0018t0002g0009a0061c0166t0002g0293a0064c0165t0001g0247others(6): Show | 11 | 356 | 0.0309 | 0 | c.485 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4989/18335 | 4852/17388 | 1618/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950603 | A | T | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.484 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4985/18335 | 4848/17388 | 1616/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950607 | G | T | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.484 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4981/18335 | 4844/17388 | 1615/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950610 | G | A | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.484 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4978/18335 | 4841/17388 | 1614/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950613 | G | A | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.483 others(4): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4975/18335 | 4838/17388 | 1613/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950613 | G | C | missense_variant | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | 0 | c.483 others(4): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4975/18335 | 4838/17388 | 1613/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950618 | T | G | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.483 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4970/18335 | 4833/17388 | 1611/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950622 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(151): Show |
a0001a0004a0006others(88): Show | a0001c0001a0001c0003a0001c0045others(103): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(103): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(128): Show | 154 | 356 | 0.4326 | 0 | c.482 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4966/18335 | 4829/17388 | 1610/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950623 | C | T | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.482 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4965/18335 | 4828/17388 | 1610/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950628 | G | T | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.482 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4960/18335 | 4823/17388 | 1608/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950631 | C | T | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show |
a0061a0064a0069others(5): Show | a0061c0166a0064c0165a0069c0184others(5): Show | a0061c0166t0002a0064c0165t0001a0069c0184t0002others(5): Show | a0061c0166t0002g0293a0064c0165t0001g0247a0069c0184t0002g0209others(5): Show | 8 | 356 | 0.0225 | 0 | c.482 others(4): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4957/18335 | 4820/17388 | 1607/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950634 | T | G | missense_variant | MODERATE | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(23): Show |
a0006a0010a0019others(11): Show | a0006c0006a0006c0200a0010c0011others(12): Show | a0006c0006t0002a0006c0200t0002a0010c0011t0002others(12): Show | a0006c0006t0002g0005a0006c0006t0002g0029a0006c0006t0002g0163others(18): Show | 26 | 356 | 0.0730 | 0 | c.481 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4954/18335 | 4817/17388 | 1606/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950644 | G | C | missense_variant | MODERATE | HG03688.hp1 | a0114 | a0114c0225 | a0114c0225t0002 | a0114c0225t0002g0234 | 1 | 356 | 0.0028 | 0 | c.480 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4944/18335 | 4807/17388 | 1603/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950645 | C | G | missense_variant | MODERATE | HG03688.hp1 | a0114 | a0114c0225 | a0114c0225t0002 | a0114c0225t0002g0234 | 1 | 356 | 0.0028 | 0 | c.480 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4943/18335 | 4806/17388 | 1602/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950655 | T | C | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.479 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4933/18335 | 4796/17388 | 1599/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950659 | C | T | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show |
a0061a0064a0069others(5): Show | a0061c0166a0064c0165a0069c0184others(5): Show | a0061c0166t0002a0064c0165t0001a0069c0184t0002others(5): Show | a0061c0166t0002g0293a0064c0165t0001g0247a0069c0184t0002g0209others(5): Show | 8 | 356 | 0.0225 | 0 | c.479 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4929/18335 | 4792/17388 | 1598/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950660 | A | T | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.479 others(4): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4928/18335 | 4791/17388 | 1597/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950663 | T | C | missense_variant | MODERATE | HG02056.hp1 HG03130.hp1 HG03942.hp1 others(2): Show |
a0020a0064a0086 | a0020c0018a0064c0165a0086c0188 | a0020c0018t0002a0064c0165t0001a0086c0188t0002 | a0020c0018t0002g0009a0064c0165t0001g0247a0086c0188t0002g0182 | 5 | 356 | 0.0140 | 0 | c.478 others(4): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4925/18335 | 4788/17388 | 1596/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950665 | T | C | missense_variant | MODERATE | HG02056.hp1 HG03130.hp1 HG03942.hp1 others(2): Show |
a0020a0064a0086 | a0020c0018a0064c0165a0086c0188 | a0020c0018t0002a0064c0165t0001a0086c0188t0002 | a0020c0018t0002g0009a0064c0165t0001g0247a0086c0188t0002g0182 | 5 | 356 | 0.0140 | 0 | c.478 others(4): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4923/18335 | 4786/17388 | 1596/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950668 | G | C | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show |
a0061a0069a0074others(4): Show | a0061c0166a0069c0184a0074c0179others(4): Show | a0061c0166t0002a0069c0184t0002a0074c0179t0003others(4): Show | a0061c0166t0002g0293a0069c0184t0002g0209a0074c0179t0003g0297others(4): Show | 7 | 356 | 0.0197 | 0 | c.478 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4920/18335 | 4783/17388 | 1595/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950689 | T | C | missense_variant | MODERATE | HG03688.hp1 NA18950.hp1 |
a0114a0140 | a0114c0225a0140c0093 | a0114c0225t0002a0140c0093t0001 | a0114c0225t0002g0234a0140c0093t0001g0210 | 2 | 356 | 0.0056 | 0 | c.476 others(4): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4899/18335 | 4762/17388 | 1588/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950695 | T | C | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show |
a0061a0069a0074others(4): Show | a0061c0166a0069c0184a0074c0179others(4): Show | a0061c0166t0002a0069c0184t0002a0074c0179t0003others(4): Show | a0061c0166t0002g0293a0069c0184t0002g0209a0074c0179t0003g0297others(4): Show | 7 | 356 | 0.0197 | 0 | c.475 others(4): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4893/18335 | 4756/17388 | 1586/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950699 | G | C | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.475 others(4): Show |
p.Phe others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4889/18335 | 4752/17388 | 1584/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950716 | C | G | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02630.hp2 others(5): Show |
a0061a0069a0074others(5): Show | a0061c0166a0069c0184a0074c0179others(5): Show | a0061c0166t0002a0069c0184t0002a0074c0179t0003others(5): Show | a0061c0166t0002g0293a0069c0184t0002g0209a0074c0179t0003g0297others(5): Show | 8 | 356 | 0.0225 | 0 | c.473 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4872/18335 | 4735/17388 | 1579/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950737 | G | A | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.471 others(4): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4851/18335 | 4714/17388 | 1572/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950749 | C | T | missense_variant | MODERATE | HG02056.hp2 NA18941.hp1 |
a0042 | a0042c0026 | a0042c0026t0001 | a0042c0026t0001g0021 | 2 | 356 | 0.0056 | 0 | c.470 others(4): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4839/18335 | 4702/17388 | 1568/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950752 | A | G | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02056.hp1 others(10): Show |
a0020a0061a0069others(8): Show | a0020c0018a0061c0166a0069c0184others(8): Show | a0020c0018t0002a0061c0166t0002a0069c0184t0002others(8): Show | a0020c0018t0002g0009a0061c0166t0002g0293a0069c0184t0002g0209others(8): Show | 13 | 356 | 0.0365 | 0 | c.469 others(4): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4836/18335 | 4699/17388 | 1567/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950757 | G | T | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.469 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4831/18335 | 4694/17388 | 1565/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950766 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(61): Show |
a0001a0011a0020others(26): Show | a0001c0001a0001c0003a0001c0045others(34): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(34): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(43): Show | 64 | 356 | 0.1798 | 0 | c.468 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4822/18335 | 4685/17388 | 1562/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950782 | C | A | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show |
a0061a0069a0074others(4): Show | a0061c0166a0069c0184a0074c0179others(4): Show | a0061c0166t0002a0069c0184t0002a0074c0179t0003others(4): Show | a0061c0166t0002g0293a0069c0184t0002g0209a0074c0179t0003g0297others(4): Show | 7 | 356 | 0.0197 | 0 | c.466 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4806/18335 | 4669/17388 | 1557/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950792 | C | G | missense_variant | MODERATE | HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show |
a0020a0086 | a0020c0018a0086c0188 | a0020c0018t0002a0086c0188t0002 | a0020c0018t0002g0009a0086c0188t0002g0182 | 4 | 356 | 0.0112 | 0 | c.465 others(4): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4796/18335 | 4659/17388 | 1553/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950797 | C | G | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show |
a0061a0069a0074others(4): Show | a0061c0166a0069c0184a0074c0179others(4): Show | a0061c0166t0002a0069c0184t0002a0074c0179t0003others(4): Show | a0061c0166t0002g0293a0069c0184t0002g0209a0074c0179t0003g0297others(4): Show | 7 | 356 | 0.0197 | 0 | c.465 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4791/18335 | 4654/17388 | 1552/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950809 | C | T | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show |
a0061a0069a0074others(4): Show | a0061c0166a0069c0184a0074c0179others(4): Show | a0061c0166t0002a0069c0184t0002a0074c0179t0003others(4): Show | a0061c0166t0002g0293a0069c0184t0002g0209a0074c0179t0003g0297others(4): Show | 7 | 356 | 0.0197 | 0 | c.464 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4779/18335 | 4642/17388 | 1548/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950824 | T | C | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.462 others(4): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4764/18335 | 4627/17388 | 1543/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950839 | C | T | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02055.hp2 others(10): Show |
a0020a0061a0069others(8): Show | a0020c0018a0061c0166a0069c0184others(8): Show | a0020c0018t0002a0061c0166t0002a0069c0184t0002others(8): Show | a0020c0018t0002g0009a0061c0166t0002g0293a0069c0184t0002g0209others(8): Show | 13 | 356 | 0.0365 | 0 | c.461 others(4): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4749/18335 | 4612/17388 | 1538/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950863 | G | A | missense_variant | MODERATE | HG02486.hp2 HG02976.hp2 HG03688.hp1 others(2): Show |
a0095a0103a0114others(2): Show | a0095c0197a0103c0065a0114c0225others(2): Show | a0095c0197t0005a0103c0065t0003a0114c0225t0002others(2): Show | a0095c0197t0005g0178a0103c0065t0003g0156a0114c0225t0002g0234others(2): Show | 5 | 356 | 0.0140 | 0 | c.458 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4725/18335 | 4588/17388 | 1530/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950871 | A | C | missense_variant | MODERATE | HG02165.hp1 HG03688.hp1 NA18980.hp1 others(3): Show |
a0024a0114a0139others(1): Show | a0024c0014a0114c0225a0139c0142others(1): Show | a0024c0014t0001a0114c0225t0002a0139c0142t0001others(1): Show | a0024c0014t0001g0007a0114c0225t0002g0234a0139c0142t0001g0127others(1): Show | 6 | 356 | 0.0169 | 0 | c.458 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4717/18335 | 4580/17388 | 1527/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950872 | C | T | missense_variant | MODERATE | HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show |
a0061a0069a0074others(4): Show | a0061c0166a0069c0184a0074c0179others(4): Show | a0061c0166t0002a0069c0184t0002a0074c0179t0003others(4): Show | a0061c0166t0002g0293a0069c0184t0002g0209a0074c0179t0003g0297others(4): Show | 7 | 356 | 0.0197 | 0 | c.457 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4716/18335 | 4579/17388 | 1527/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950883 | A | G | missense_variant | MODERATE | HG02647.hp1 HG02809.hp1 |
a0137a0138 | a0137c0094a0138c0095 | a0137c0094t0001a0138c0095t0001 | a0137c0094t0001g0111a0138c0095t0001g0112 | 2 | 356 | 0.0056 | 0 | c.456 others(4): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4705/18335 | 4568/17388 | 1523/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950889 | G | A | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.456 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4699/18335 | 4562/17388 | 1521/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104950890 | G | A | missense_variant | MODERATE | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.456 others(4): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4698/18335 | 4561/17388 | 1521/5795 | chr14 | TogoVar |