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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AFP_chr4_73431221_73461174 | 73453821 | C | G | missense_variant | MODERATE | HG01109.hp2 HG01891.hp1 HG01891.hp2 others(21): Show |
a0002a0008 | a0002c0002a0008c0015 | a0002c0002t0002a0008c0015t0002 | a0002c0002t0002g0002a0002c0002t0002g0019a0002c0002t0002g0026others(11): Show | 24 | 390 | 0.0615 | 0 | c.170 others(4): Show |
p.Ala others(6): Show |
AFP | ENSG00000081051.8 | transcript | ENST00000395792.7 | protein_coding | 13/15 | 1751/2426 | 1709/1830 | 570/609 | chr4 | TogoVar | ||
AFTPH_chr2_64519328_64598005 | 64552061 | G | A | missense_variant | MODERATE | HG03017.hp2 | a0007 | a0007c0009 | a0007c0009t0004 | a0007c0009t0004g0071 | 1 | 372 | 0.0027 | 0 | c.587 others(3): Show |
p.Gly others(6): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 2/10 | 904/4098 | 587/2811 | 196/936 | chr2 | TogoVar | ||
AFTPH_chr2_64519328_64598005 | 64552187 | C | T | missense_variant | MODERATE | HG02886.hp2 | a0008 | a0008c0017 | a0008c0017t0003 | a0008c0017t0003g0326 | 1 | 372 | 0.0027 | 0 | c.713 others(3): Show |
p.Ser others(6): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 2/10 | 1030/4098 | 713/2811 | 238/936 | chr2 | TogoVar | ||
AFTPH_chr2_64519328_64598005 | 64552318 | G | A | missense_variant | MODERATE | NA18981.hp2 NA19077.hp2 NA19083.hp1 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0132a0004c0004t0001g0221a0004c0004t0001g0223others(1): Show | 4 | 372 | 0.0108 | 0 | c.844 others(3): Show |
p.Gly others(6): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 2/10 | 1161/4098 | 844/2811 | 282/936 | chr2 | TogoVar | ||
AFTPH_chr2_64519328_64598005 | 64552375 | G | A | missense_variant | MODERATE | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0010a0005c0007others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0004a0002c0002t0001g0312a0002c0002t0001g0313others(86): Show | 91 | 372 | 0.2446 | 0 | c.901 others(3): Show |
p.Glu others(6): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 2/10 | 1218/4098 | 901/2811 | 301/936 | chr2 | TogoVar | ||
AFTPH_chr2_64519328_64598005 | 64552492 | T | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 HG02970.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0232a0003c0003t0008g0263a0003c0003t0008g0264others(2): Show | 5 | 372 | 0.0134 | 0 | c.101 others(4): Show |
p.Ser others(6): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 2/10 | 1335/4098 | 1018/2811 | 340/936 | chr2 | TogoVar | ||
AFTPH_chr2_64519328_64598005 | 64552528 | T | C | missense_variant | MODERATE | HG03486.hp1 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0233 | 1 | 372 | 0.0027 | 0 | c.105 others(4): Show |
p.Cys others(6): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 2/10 | 1371/4098 | 1054/2811 | 352/936 | chr2 | TogoVar | ||
AFTPH_chr2_64519328_64598005 | 64553123 | A | G | missense_variant | MODERATE | HG03486.hp2 NA18946.hp2 NA19055.hp2 |
a0005 | a0005c0007a0005c0008 | a0005c0007t0002a0005c0007t0009a0005c0008t0005 | a0005c0007t0002g0351a0005c0007t0009g0331a0005c0008t0005g0279 | 3 | 372 | 0.0081 | 0 | c.164 others(4): Show |
p.Asn others(6): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 2/10 | 1966/4098 | 1649/2811 | 550/936 | chr2 | TogoVar | ||
AFTPH_chr2_64519328_64598005 | 64553225 | C | G | missense_variant | MODERATE | HG02004.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0151 | 1 | 372 | 0.0027 | 0 | c.175 others(4): Show |
p.Ser others(6): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 2/10 | 2068/4098 | 1751/2811 | 584/936 | chr2 | TogoVar | ||
AFTPH_chr2_64519328_64598005 | 64553337 | C | G | missense_variant | MODERATE | HG03688.hp1 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0241 | 1 | 372 | 0.0027 | 0 | c.186 others(4): Show |
p.His others(6): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 2/10 | 2180/4098 | 1863/2811 | 621/936 | chr2 | TogoVar | ||
AFTPH_chr2_64519328_64598005 | 64581253 | G | A | missense_variant | MODERATE | HG00408.hp2 NA19011.hp2 |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0343a0006c0006t0002g0354 | 2 | 372 | 0.0054 | 0 | c.251 others(4): Show |
p.Ser others(6): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 8/10 | 2836/4098 | 2519/2811 | 840/936 | chr2 | TogoVar | ||
AFTPH_chr2_64519328_64598005 | 64592009 | A | C | missense_variant | MODERATE | HG03195.hp2 | a0010 | a0010c0013 | a0010c0013t0017 | a0010c0013t0017g0268 | 1 | 372 | 0.0027 | 0 | c.278 others(4): Show |
p.Ser others(6): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 10/10 | 3102/4098 | 2785/2811 | 929/936 | chr2 | TogoVar | ||
AGAP1_chr2_235489043_236136793 | 235744764 | G | A | missense_variant | MODERATE | NA18522.hp1 | a0003 | a0003c0015 | a0003c0015t0002 | a0003c0015t0002g0075 | 1 | 98 | 0.0102 | 0 | c.463 others(3): Show |
p.Val others(6): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 5/18 | 1107/10889 | 463/2574 | 155/857 | chr2 | TogoVar | ||
AGAP1_chr2_235489043_236136793 | 236049178 | G | A | missense_variant | MODERATE | HG00438.hp1 HG00741.hp1 HG01106.hp1 others(79): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(57): Show | a0001c0001t0002g0002a0001c0001t0002g0046a0001c0001t0002g0047others(79): Show | 82 | 98 | 0.8367 | 0 | c.201 others(4): Show |
p.Val others(6): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 16/18 | 2655/10889 | 2011/2574 | 671/857 | chr2 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57726626 | C | T | missense_variant | MODERATE | HG01109.hp1 HG01884.hp2 HG02809.hp2 others(7): Show |
a0002a0003 | a0002c0009a0003c0003 | a0002c0009t0005a0003c0003t0001a0003c0003t0003others(1): Show | a0002c0009t0005g0029a0003c0003t0001g0093a0003c0003t0003g0134others(3): Show | 10 | 382 | 0.0262 | 0 | c.350 others(4): Show |
p.Ala others(7): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 19/19 | 4001/5430 | 3505/3579 | 1169/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57726992 | G | C | missense_variant | MODERATE | HG01167.hp2 HG01169.hp2 HG02615.hp1 others(3): Show |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0003 | a0005c0006t0001g0017a0005c0006t0003g0053 | 6 | 382 | 0.0157 | 0 | c.331 others(4): Show |
p.Ile others(7): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 18/19 | 3814/5430 | 3318/3579 | 1106/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57727375 | G | A | missense_variant | MODERATE | NA18992.hp1 NA19068.hp1 |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0038 | 2 | 382 | 0.0052 | 0 | c.306 others(4): Show |
p.Ser others(7): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 17/19 | 3561/5430 | 3065/3579 | 1022/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57728079 | T | G | missense_variant | MODERATE | NA19086.hp2 | a0008 | a0008c0023 | a0008c0023t0001 | a0008c0023t0001g0099 | 1 | 382 | 0.0026 | 0 | c.262 others(4): Show |
p.Asn others(6): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 15/19 | 3120/5430 | 2624/3579 | 875/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57731886 | C | T | missense_variant | MODERATE | HG03471.hp2 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0131 | 1 | 382 | 0.0026 | 0 | c.187 others(4): Show |
p.Glu others(6): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 8/19 | 2372/5430 | 1876/3579 | 626/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57734055 | C | G | missense_variant | MODERATE | HG02486.hp2 | a0007 | a0007c0017 | a0007c0017t0003 | a0007c0017t0003g0088 | 1 | 382 | 0.0026 | 0 | c.152 others(4): Show |
p.Gly others(6): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 5/19 | 2016/5430 | 1520/3579 | 507/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57734056 | C | T | missense_variant | MODERATE | NA18966.hp2 NA18967.hp2 NA18968.hp2 others(5): Show |
a0004 | a0004c0004a0004c0027 | a0004c0004t0001a0004c0027t0001 | a0004c0004t0001g0008a0004c0027t0001g0146 | 8 | 382 | 0.0209 | 0 | c.151 others(4): Show |
p.Gly others(6): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 5/19 | 2015/5430 | 1519/3579 | 507/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57734595 | C | G | missense_variant | MODERATE | HG00099.hp2 | a0010 | a0010c0016 | a0010c0016t0008 | a0010c0016t0008g0054 | 1 | 382 | 0.0026 | 0 | c.131 others(4): Show |
p.Glu others(6): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 3/19 | 1808/5430 | 1312/3579 | 438/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57737106 | G | T | missense_variant | MODERATE | HG02965.hp1 | a0011 | a0011c0015 | a0011c0015t0014 | a0011c0015t0014g0147 | 1 | 382 | 0.0026 | 0 | c.114 others(4): Show |
p.Leu others(6): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 1/19 | 1637/5430 | 1141/3579 | 381/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57737513 | C | A | missense_variant | MODERATE | NA20752.hp2 | a0012 | a0012c0026 | a0012c0026t0001 | a0012c0026t0001g0145 | 1 | 382 | 0.0026 | 0 | c.734 others(3): Show |
p.Gly others(6): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 1/19 | 1230/5430 | 734/3579 | 245/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57737553 | C | T | missense_variant | MODERATE | NA18964.hp1 | a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0056 | 1 | 382 | 0.0026 | 0 | c.694 others(3): Show |
p.Ala others(6): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 1/19 | 1190/5430 | 694/3579 | 232/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57737785 | C | G | missense_variant | MODERATE | HG02572.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0055 | 1 | 382 | 0.0026 | 0 | c.462 others(3): Show |
p.Glu others(6): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 1/19 | 958/5430 | 462/3579 | 154/1192 | chr12 | TogoVar | ||
AGAP2_chr12_57720197_57743742 | 57737886 | G | T | missense_variant | MODERATE | HG02572.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0055 | 1 | 382 | 0.0026 | 0 | c.361 others(3): Show |
p.Pro others(6): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 1/19 | 857/5430 | 361/3579 | 121/1192 | chr12 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151086824 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 0 | c.83A others(2): Show |
p.Gln others(5): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 350/3494 | 83/2736 | 28/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151086830 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 0 | c.89T others(2): Show |
p.Leu others(5): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 356/3494 | 89/2736 | 30/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151086833 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 0 | c.92T others(2): Show |
p.Val others(5): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 359/3494 | 92/2736 | 31/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151086835 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 0 | c.94T others(2): Show |
p.Cys others(5): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 361/3494 | 94/2736 | 32/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151117652 | A | C | missense_variant | MODERATE | HG03831.hp2 | a0003 | a0003c0019 | a0003c0019t0004 | a0003c0019t0004g0292 | 1 | 354 | 0.0028 | 0 | c.581 others(3): Show |
p.Asp others(6): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 5/18 | 848/3494 | 581/2736 | 194/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151117661 | T | A | missense_variant | MODERATE | HG03831.hp2 | a0003 | a0003c0019 | a0003c0019t0004 | a0003c0019t0004g0292 | 1 | 354 | 0.0028 | 0 | c.590 others(3): Show |
p.Val others(6): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 5/18 | 857/3494 | 590/2736 | 197/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151117669 | T | G | missense_variant | MODERATE | HG03831.hp2 | a0003 | a0003c0019 | a0003c0019t0004 | a0003c0019t0004g0292 | 1 | 354 | 0.0028 | 0 | c.598 others(3): Show |
p.Phe others(6): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 5/18 | 865/3494 | 598/2736 | 200/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151117686 | A | C | missense_variant | MODERATE | HG03831.hp2 | a0003 | a0003c0019 | a0003c0019t0004 | a0003c0019t0004g0292 | 1 | 354 | 0.0028 | 0 | c.615 others(3): Show |
p.Glu others(6): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 5/18 | 882/3494 | 615/2736 | 205/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151118624 | A | T | missense_variant | MODERATE | NA19065.hp2 | a0004 | a0004c0016 | a0004c0016t0001 | a0004c0016t0001g0052 | 1 | 354 | 0.0028 | 0 | c.961 others(3): Show |
p.Ile others(6): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 7/18 | 1228/3494 | 961/2736 | 321/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151119999 | G | A | missense_variant | MODERATE | NA19011.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0244 | 1 | 354 | 0.0028 | 0 | c.982 others(3): Show |
p.Gly others(6): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 8/18 | 1249/3494 | 982/2736 | 328/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151138250 | G | A | missense_variant | MODERATE | NA18522.hp1 | a0005 | a0005c0012 | a0005c0012t0002 | a0005c0012t0002g0334 | 1 | 354 | 0.0028 | 0 | c.160 others(4): Show |
p.Val others(6): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 12/18 | 1870/3494 | 1603/2736 | 535/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151143353 | A | T | missense_variant | MODERATE | HG00140.hp1 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0124 | 1 | 354 | 0.0028 | 0 | c.228 others(4): Show |
p.Glu others(6): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 17/18 | 2553/3494 | 2286/2736 | 762/911 | chr7 | TogoVar | ||
AGAP3_chr7_151081475_151149434 | 151143924 | G | A | missense_variant | MODERATE | HG02071.hp2 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0033 | 1 | 354 | 0.0028 | 0 | c.271 others(4): Show |
p.Arg others(6): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 18/18 | 2984/3494 | 2717/2736 | 906/911 | chr7 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45825925 | T | C | missense_variant | MODERATE | HG02896.hp1 | a0031 | a0031c0040 | a0031c0040t0001 | a0031c0040t0001g0265 | 1 | 382 | 0.0026 | 0 | c.205 others(4): Show |
p.Lys others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 2204/2535 | 2051/2061 | 684/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45825926 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(169): Show |
a0002a0003a0006others(15): Show | a0002c0002a0002c0014a0002c0018others(21): Show | a0002c0002t0001a0002c0002t0006a0002c0014t0001others(22): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(122): Show | 172 | 382 | 0.4503 | 0 | c.205 others(4): Show |
p.Lys others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 2203/2535 | 2050/2061 | 684/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45825953 | C | T | missense_variant | MODERATE | NA19079.hp1 | a0028 | a0028c0035 | a0028c0035t0001 | a0028c0035t0001g0230 | 1 | 382 | 0.0026 | 0 | c.202 others(4): Show |
p.Val others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 2176/2535 | 2023/2061 | 675/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826079 | G | A | missense_variant | MODERATE | HG01070.hp2 HG01106.hp1 HG01243.hp1 others(35): Show |
a0005a0007a0008others(2): Show | a0005c0006a0005c0052a0007c0008others(4): Show | a0005c0006t0001a0005c0052t0001a0007c0008t0001others(4): Show | a0005c0006t0001g0017a0005c0006t0001g0074a0005c0006t0001g0075others(29): Show | 38 | 382 | 0.0995 | 0 | c.189 others(4): Show |
p.Arg others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 2050/2535 | 1897/2061 | 633/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826199 | G | A | missense_variant | MODERATE | HG00323.hp2 HG00642.hp1 HG01070.hp1 others(22): Show |
a0003a0015a0017 | a0003c0004a0003c0013a0003c0046others(2): Show | a0003c0004t0001a0003c0013t0001a0003c0046t0001others(2): Show | a0003c0004t0001g0091a0003c0004t0001g0092a0003c0004t0001g0093others(20): Show | 25 | 382 | 0.0655 | 0 | c.177 others(4): Show |
p.Arg others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1930/2535 | 1777/2061 | 593/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826224 | C | A | missense_variant | MODERATE | NA18973.hp2 | a0036 | a0036c0031 | a0036c0031t0005 | a0036c0031t0005g0090 | 1 | 382 | 0.0026 | 0 | c.175 others(4): Show |
p.Glu others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1905/2535 | 1752/2061 | 584/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826273 | C | T | missense_variant | MODERATE | HG01891.hp1 HG02647.hp2 HG02895.hp2 others(2): Show |
a0018a0019a0030others(1): Show | a0018c0024a0019c0025a0030c0039others(1): Show | a0018c0024t0001a0019c0025t0001a0030c0039t0001others(1): Show | a0018c0024t0001g0016a0019c0025t0001g0048a0030c0039t0001g0267others(1): Show | 5 | 382 | 0.0131 | 0 | c.170 others(4): Show |
p.Arg others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1856/2535 | 1703/2061 | 568/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826313 | A | T | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG01123.hp2 others(4): Show |
a0011a0027 | a0011c0010a0027c0049 | a0011c0010t0001a0027c0049t0001 | a0011c0010t0001g0028a0011c0010t0001g0123a0011c0010t0001g0140others(3): Show | 7 | 382 | 0.0183 | 0 | c.166 others(4): Show |
p.Ser others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1816/2535 | 1663/2061 | 555/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826324 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG01123.hp2 others(3): Show |
a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0028a0011c0010t0001g0123a0011c0010t0001g0140others(2): Show | 6 | 382 | 0.0157 | 0 | c.165 others(4): Show |
p.Gln others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1805/2535 | 1652/2061 | 551/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826352 | T | C | missense_variant | MODERATE | HG01993.hp2 | a0026 | a0026c0042 | a0026c0042t0001 | a0026c0042t0001g0147 | 1 | 382 | 0.0026 | 0 | c.162 others(4): Show |
p.Ser others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1777/2535 | 1624/2061 | 542/686 | chr10 | TogoVar |