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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALOX15B_chr17_8034059_8054134 | 8048462 | G | A | missense_variant | MODERATE | NA18944.hp2 NA18971.hp1 NA18975.hp1 others(1): Show |
a0010 | a0010c0018a0010c0032 | a0010c0018t0002a0010c0032t0001 | a0010c0018t0002g0021a0010c0018t0002g0035a0010c0032t0001g0035 | 4 | 470 | 0.0085 | 0 | c.192 others(4): Show |
p.Arg others(6): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 14/14 | 2025/2697 | 1928/2031 | 643/676 | chr17 | TogoVar | ||
ALOX15B_chr17_8034059_8054134 | 8048501 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(295): Show |
a0001a0003a0004others(15): Show | a0001c0001a0001c0005a0001c0008others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(209): Show | 298 | 470 | 0.6340 | 0 | c.196 others(4): Show |
p.Gln others(6): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 14/14 | 2064/2697 | 1967/2031 | 656/676 | chr17 | TogoVar | ||
ALOX15B_chr17_8034059_8054134 | 8048545 | G | C | missense_variant | MODERATE | NA18940.hp1 | a0023 | a0023c0043 | a0023c0043t0002 | a0023c0043t0002g0020 | 1 | 470 | 0.0021 | 0 | c.201 others(4): Show |
p.Glu others(6): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 14/14 | 2108/2697 | 2011/2031 | 671/676 | chr17 | TogoVar | ||
ALOX15B_chr17_8034059_8054134 | 8048560 | A | G | missense_variant | MODERATE | HG00438.hp2 HG00597.hp1 HG01167.hp2 others(50): Show |
a0004a0005a0008 | a0004c0006a0004c0007a0004c0030others(3): Show | a0004c0006t0003a0004c0006t0017a0004c0007t0003others(5): Show | a0004c0006t0003g0027a0004c0006t0003g0129a0004c0006t0003g0143others(42): Show | 53 | 470 | 0.1128 | 0 | c.202 others(4): Show |
p.Ile others(6): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 14/14 | 2123/2697 | 2026/2031 | 676/676 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4631740 | G | A | missense_variant | MODERATE | HG00642.hp2 HG00735.hp2 HG01099.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0009a0002c0004t0002g0147a0002c0004t0002g0150others(2): Show | 10 | 472 | 0.0212 | 0 | c.184 others(4): Show |
p.Pro others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 14/14 | 1876/2697 | 1849/1989 | 617/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4631999 | T | C | missense_variant | MODERATE | NA18992.hp2 | a0010 | a0010c0020 | a0010c0020t0002 | a0010c0020t0002g0142 | 1 | 472 | 0.0021 | 0 | c.169 others(4): Show |
p.Thr others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 13/14 | 1726/2697 | 1699/1989 | 567/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4632019 | G | A | missense_variant | MODERATE | HG01123.hp1 HG01361.hp2 HG01496.hp1 others(4): Show |
a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0026a0003c0007t0002g0091a0003c0007t0002g0126others(2): Show | 7 | 472 | 0.0148 | 0 | c.167 others(4): Show |
p.Thr others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 13/14 | 1706/2697 | 1679/1989 | 560/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4632230 | A | G | missense_variant | MODERATE | HG02602.hp2 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0108 | 1 | 472 | 0.0021 | 0 | c.159 others(4): Show |
p.Met others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 12/14 | 1619/2697 | 1592/1989 | 531/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4633270 | C | T | missense_variant | MODERATE | HG02602.hp2 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0108 | 1 | 472 | 0.0021 | 0 | c.129 others(4): Show |
p.Ala others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 10/14 | 1321/2697 | 1294/1989 | 432/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4633300 | C | G | missense_variant | MODERATE | NA18972.hp1 | a0012 | a0012c0023 | a0012c0023t0002 | a0012c0023t0002g0160 | 1 | 472 | 0.0021 | 0 | c.126 others(4): Show |
p.Gly others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 10/14 | 1291/2697 | 1264/1989 | 422/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4638263 | G | T | missense_variant | MODERATE | NA19054.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0185 | 1 | 472 | 0.0021 | 0 | c.761 others(3): Show |
p.Pro others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 6/14 | 788/2697 | 761/1989 | 254/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4638596 | G | T | missense_variant | MODERATE | HG01884.hp1 | a0008 | a0008c0015 | a0008c0015t0002 | a0008c0015t0002g0149 | 1 | 472 | 0.0021 | 0 | c.631 others(3): Show |
p.Gln others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 5/14 | 658/2697 | 631/1989 | 211/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4638613 | C | T | missense_variant | MODERATE | HG02055.hp2 HG02257.hp1 HG02280.hp1 others(3): Show |
a0004 | a0004c0008 | a0004c0008t0001a0004c0008t0002 | a0004c0008t0001g0015a0004c0008t0001g0100a0004c0008t0002g0101 | 6 | 472 | 0.0127 | 0 | c.614 others(3): Show |
p.Arg others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 5/14 | 641/2697 | 614/1989 | 205/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4638625 | T | A | missense_variant | MODERATE | NA19006.hp1 | a0013 | a0013c0024 | a0013c0024t0002 | a0013c0024t0002g0166 | 1 | 472 | 0.0021 | 0 | c.602 others(3): Show |
p.Asp others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 5/14 | 629/2697 | 602/1989 | 201/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4638668 | T | C | missense_variant | MODERATE | HG02615.hp2 HG02809.hp1 |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0200a0006c0011t0001g0201 | 2 | 472 | 0.0042 | 0 | c.559 others(3): Show |
p.Ile others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 5/14 | 586/2697 | 559/1989 | 187/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4639458 | G | C | missense_variant | MODERATE | HG02055.hp2 HG02257.hp1 HG02280.hp1 others(3): Show |
a0004 | a0004c0008 | a0004c0008t0001a0004c0008t0002 | a0004c0008t0001g0015a0004c0008t0001g0100a0004c0008t0002g0101 | 6 | 472 | 0.0127 | 0 | c.309 others(3): Show |
p.Asn others(6): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 2/14 | 336/2697 | 309/1989 | 103/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4639499 | C | G | missense_variant | MODERATE | HG02738.hp2 | a0014 | a0014c0014 | a0014c0014t0002 | a0014c0014t0002g0104 | 1 | 472 | 0.0021 | 0 | c.268 others(3): Show |
p.Asp others(5): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 2/14 | 295/2697 | 268/1989 | 90/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4639531 | T | C | missense_variant | MODERATE | NA19066.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0203 | 1 | 472 | 0.0021 | 0 | c.236 others(3): Show |
p.Asn others(5): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 2/14 | 263/2697 | 236/1989 | 79/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4639538 | A | T | missense_variant | MODERATE | NA19072.hp1 | a0015 | a0015c0013 | a0015c0013t0002 | a0015c0013t0002g0124 | 1 | 472 | 0.0021 | 0 | c.229 others(3): Show |
p.Phe others(5): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 2/14 | 256/2697 | 229/1989 | 77/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4639553 | T | G | missense_variant | MODERATE | NA19066.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0203 | 1 | 472 | 0.0021 | 0 | c.214 others(3): Show |
p.Lys others(5): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 2/14 | 241/2697 | 214/1989 | 72/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4639559 | G | A | missense_variant | MODERATE | NA19066.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0203 | 1 | 472 | 0.0021 | 0 | c.208 others(3): Show |
p.Leu others(5): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 2/14 | 235/2697 | 208/1989 | 70/662 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4641609 | A | G | missense_variant | MODERATE | NA18959.hp2 NA18968.hp2 NA19003.hp1 others(1): Show |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0021a0005c0009t0001g0067 | 4 | 472 | 0.0085 | 0 | c.43T others(2): Show |
p.Tyr others(5): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 1/14 | 70/2697 | 43/1989 | 15/662 | chr17 | TogoVar | ||
ALOX5_chr10_45369216_45451117 | 45374371 | G | A | missense_variant | MODERATE | NA18968.hp2 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0219 | 1 | 345 | 0.0029 | 0 | c.92G others(2): Show |
p.Gly others(5): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 1/14 | 156/2519 | 92/2025 | 31/674 | chr10 | TogoVar | ||
ALOX5_chr10_45369216_45451117 | 45382625 | T | A | missense_variant | MODERATE | NA18941.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0098 | 1 | 345 | 0.0029 | 0 | c.293 others(3): Show |
p.Phe others(5): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/14 | 357/2519 | 293/2025 | 98/674 | chr10 | TogoVar | ||
ALOX5_chr10_45369216_45451117 | 45425058 | G | A | missense_variant | MODERATE | HG01243.hp2 HG02040.hp1 HG02080.hp2 others(13): Show |
a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0036a0002c0005t0003g0039a0002c0005t0003g0040others(13): Show | 16 | 345 | 0.0464 | 0 | c.760 others(3): Show |
p.Glu others(6): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 6/14 | 824/2519 | 760/2025 | 254/674 | chr10 | TogoVar | ||
ALOX5_chr10_45369216_45451117 | 45440532 | G | A | missense_variant | MODERATE | NA18955.hp2 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0085 | 1 | 345 | 0.0029 | 0 | c.108 others(4): Show |
p.Val others(6): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 8/14 | 1148/2519 | 1084/2025 | 362/674 | chr10 | TogoVar | ||
ALOX5_chr10_45369216_45451117 | 45443104 | G | T | missense_variant | MODERATE | NA19005.hp1 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0023 | 1 | 345 | 0.0029 | 0 | c.133 others(4): Show |
p.Ala others(6): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 10/14 | 1403/2519 | 1339/2025 | 447/674 | chr10 | TogoVar | ||
ALOX5_chr10_45369216_45451117 | 45445628 | A | C | missense_variant | MODERATE | HG03491.hp2 HG03492.hp2 |
a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0245a0003c0010t0001g0246 | 2 | 345 | 0.0058 | 0 | c.196 others(4): Show |
p.Lys others(6): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 14/14 | 2030/2519 | 1966/2025 | 656/674 | chr10 | TogoVar | ||
ALOXE3_chr17_8090900_8123514 | 8096731 | G | A | missense_variant | MODERATE | HG00642.hp2 HG01257.hp1 HG01258.hp1 others(5): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0090a0003c0005t0001g0092a0003c0005t0001g0093others(5): Show | 8 | 422 | 0.0190 | 0 | c.203 others(4): Show |
p.Arg others(6): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 16/16 | 2374/3205 | 2032/2136 | 678/711 | chr17 | TogoVar | ||
ALOXE3_chr17_8090900_8123514 | 8103408 | G | A | missense_variant | MODERATE | HG01069.hp1 HG01071.hp2 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0217a0004c0007t0001g0218 | 2 | 422 | 0.0047 | 0 | c.187 others(4): Show |
p.Thr others(6): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/16 | 2213/3205 | 1871/2136 | 624/711 | chr17 | TogoVar | ||
ALOXE3_chr17_8090900_8123514 | 8109193 | T | C | missense_variant | MODERATE | HG01109.hp2 HG02109.hp2 HG02132.hp2 others(23): Show |
a0002a0007 | a0002c0003a0002c0004a0002c0013others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(4): Show | a0002c0003t0001g0017a0002c0003t0001g0018a0002c0003t0001g0020others(22): Show | 26 | 422 | 0.0616 | 0 | c.154 others(4): Show |
p.Ile others(6): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 12/16 | 1885/3205 | 1543/2136 | 515/711 | chr17 | TogoVar | ||
ALOXE3_chr17_8090900_8123514 | 8111424 | G | A | missense_variant | MODERATE | HG03540.hp2 | a0007 | a0007c0014 | a0007c0014t0002 | a0007c0014t0002g0272 | 1 | 422 | 0.0024 | 0 | c.892 others(3): Show |
p.Pro others(6): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 8/16 | 1234/3205 | 892/2136 | 298/711 | chr17 | TogoVar | ||
ALOXE3_chr17_8090900_8123514 | 8112168 | A | T | missense_variant | MODERATE | HG02602.hp1 HG03710.hp2 |
a0005 | a0005c0010a0005c0011 | a0005c0010t0002a0005c0011t0001 | a0005c0010t0002g0324a0005c0011t0001g0111 | 2 | 422 | 0.0047 | 0 | c.709 others(3): Show |
p.Leu others(6): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 7/16 | 1051/3205 | 709/2136 | 237/711 | chr17 | TogoVar | ||
ALOXE3_chr17_8090900_8123514 | 8114587 | C | T | missense_variant | MODERATE | HG01168.hp2 | a0008 | a0008c0009 | a0008c0009t0004 | a0008c0009t0004g0376 | 1 | 422 | 0.0024 | 0 | c.577 others(3): Show |
p.Gly others(6): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 6/16 | 919/3205 | 577/2136 | 193/711 | chr17 | TogoVar | ||
ALOXE3_chr17_8090900_8123514 | 8114598 | C | G | missense_variant | MODERATE | NA19000.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0281 | 1 | 422 | 0.0024 | 0 | c.566 others(3): Show |
p.Arg others(6): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 6/16 | 908/3205 | 566/2136 | 189/711 | chr17 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232406932 | G | C | missense_variant | MODERATE | NA18997.hp1 | a0018 | a0018c0017 | a0018c0017t0001 | a0018c0017t0001g0001 | 1 | 434 | 0.0023 | 0 | c.38G others(2): Show |
p.Arg others(5): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 1/11 | 89/2492 | 38/1599 | 13/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232407089 | C | G | missense_variant | MODERATE | HG03688.hp1 | a0011 | a0011c0028 | a0011c0028t0001 | a0011c0028t0001g0002 | 1 | 434 | 0.0023 | 0 | c.100 others(3): Show |
p.Gln others(5): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 2/11 | 151/2492 | 100/1599 | 34/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232407901 | G | A | missense_variant | MODERATE | NA18997.hp2 | a0017 | a0017c0019 | a0017c0019t0001 | a0017c0019t0001g0026 | 1 | 434 | 0.0023 | 0 | c.532 others(3): Show |
p.Ala others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 5/11 | 583/2492 | 532/1599 | 178/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232407962 | G | A | missense_variant | MODERATE | HG03654.hp1 | a0012 | a0012c0020 | a0012c0020t0002 | a0012c0020t0002g0004 | 1 | 434 | 0.0023 | 0 | c.593 others(3): Show |
p.Arg others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 5/11 | 644/2492 | 593/1599 | 198/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232407989 | C | T | missense_variant | MODERATE | HG03579.hp2 | a0013 | a0013c0027 | a0013c0027t0002 | a0013c0027t0002g0004 | 1 | 434 | 0.0023 | 0 | c.620 others(3): Show |
p.Thr others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 5/11 | 671/2492 | 620/1599 | 207/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232408301 | C | G | missense_variant | MODERATE | HG00544.hp2 HG00558.hp1 HG00738.hp2 others(57): Show |
a0005a0006a0017 | a0005c0005a0005c0006a0006c0007others(2): Show | a0005c0005t0001a0005c0005t0007a0005c0006t0001others(4): Show | a0005c0005t0001g0001a0005c0005t0001g0003a0005c0005t0001g0015others(7): Show | 60 | 434 | 0.1383 | 0 | c.683 others(3): Show |
p.Pro others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 6/11 | 734/2492 | 683/1599 | 228/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232408397 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(72): Show |
a0003a0008a0009others(3): Show | a0003c0003a0003c0013a0003c0025others(5): Show | a0003c0003t0001a0003c0003t0003a0003c0013t0001others(6): Show | a0003c0003t0001g0002a0003c0003t0001g0024a0003c0003t0001g0027others(9): Show | 75 | 434 | 0.1728 | 0 | c.779 others(3): Show |
p.His others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 6/11 | 830/2492 | 779/1599 | 260/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232408534 | C | A | missense_variant | MODERATE | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(187): Show |
a0003a0004a0005others(9): Show | a0003c0003a0003c0013a0003c0025others(13): Show | a0003c0003t0001a0003c0003t0003a0003c0013t0001others(17): Show | a0003c0003t0001g0002a0003c0003t0001g0024a0003c0003t0001g0027others(27): Show | 190 | 434 | 0.4378 | 0 | c.817 others(3): Show |
p.Leu others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 7/11 | 868/2492 | 817/1599 | 273/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232408553 | C | T | missense_variant | MODERATE | NA18959.hp1 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0001 | 1 | 434 | 0.0023 | 0 | c.836 others(3): Show |
p.Pro others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 7/11 | 887/2492 | 836/1599 | 279/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232408743 | G | A | missense_variant | MODERATE | NA18984.hp2 NA18995.hp1 |
a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0001 | 2 | 434 | 0.0046 | 0 | c.896 others(3): Show |
p.Arg others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 8/11 | 947/2492 | 896/1599 | 299/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232408769 | A | G | missense_variant | MODERATE | HG03098.hp2 | a0016 | a0016c0024 | a0016c0024t0001 | a0016c0024t0001g0002 | 1 | 434 | 0.0023 | 0 | c.922 others(3): Show |
p.Met others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 8/11 | 973/2492 | 922/1599 | 308/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232408794 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(363): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0008a0001c0011others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(53): Show | 366 | 434 | 0.8433 | 0 | c.947 others(3): Show |
p.Leu others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 8/11 | 998/2492 | 947/1599 | 316/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232409418 | G | A | missense_variant | MODERATE | HG01891.hp1 HG02976.hp1 HG03130.hp1 others(1): Show |
a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0011a0007c0009t0002g0012 | 4 | 434 | 0.0092 | 0 | c.127 others(4): Show |
p.Ala others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 10/11 | 1321/2492 | 1270/1599 | 424/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232409657 | G | A | missense_variant | MODERATE | NA18973.hp2 | a0015 | a0015c0021 | a0015c0021t0002 | a0015c0021t0002g0004 | 1 | 434 | 0.0023 | 0 | c.138 others(4): Show |
p.Gly others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 11/11 | 1435/2492 | 1384/1599 | 462/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232409765 | C | A | missense_variant | MODERATE | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(57): Show |
a0004a0007a0012others(2): Show | a0004c0004a0007c0009a0012c0020others(2): Show | a0004c0004t0002a0004c0004t0008a0007c0009t0002others(3): Show | a0004c0004t0002g0004a0004c0004t0002g0007a0004c0004t0002g0013others(7): Show | 60 | 434 | 0.1383 | 0 | c.149 others(4): Show |
p.Arg others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 11/11 | 1543/2492 | 1492/1599 | 498/532 | chr2 | TogoVar |