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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP33_chr19_35770564_35793822 | 35787893 | A | C | missense_variant | MODERATE | NA18966.hp2 | a0011 | a0011c0027 | a0011c0027t0001 | a0011c0027t0001g0001 | 1 | 420 | 0.0024 | 0 | c.332 others(4): Show |
p.Met others(7): Show |
ARHGAP33 | ENSG00000004777.19 | transcript | ENST00000007510.9 | protein_coding | 21/21 | 3423/4352 | 3328/3864 | 1110/1287 | chr19 | TogoVar | ||
ARHGAP33_chr19_35770564_35793822 | 35787912 | A | G | missense_variant | MODERATE | HG02647.hp1 | a0012 | a0012c0036 | a0012c0036t0001 | a0012c0036t0001g0003 | 1 | 420 | 0.0024 | 0 | c.334 others(4): Show |
p.Asn others(7): Show |
ARHGAP33 | ENSG00000004777.19 | transcript | ENST00000007510.9 | protein_coding | 21/21 | 3442/4352 | 3347/3864 | 1116/1287 | chr19 | TogoVar | ||
ARHGAP35_chr19_46855997_47010077 | 46920929 | A | G | missense_variant | MODERATE | HG01433.hp2 | a0003 | a0003c0013 | a0003c0013t0004 | a0003c0013t0004g0244 | 1 | 298 | 0.0034 | 0 | c.225 others(4): Show |
p.Ser others(6): Show |
ARHGAP35 | ENSG00000160007.20 | transcript | ENST00000672722.1 | protein_coding | 2/7 | 2655/9290 | 2254/4500 | 752/1499 | chr19 | TogoVar | ||
ARHGAP35_chr19_46855997_47010077 | 46921181 | T | G | missense_variant | MODERATE | HG02015.hp2 HG02027.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0003a0002c0004t0003g0008 | 2 | 298 | 0.0067 | 0 | c.250 others(4): Show |
p.Ser others(6): Show |
ARHGAP35 | ENSG00000160007.20 | transcript | ENST00000672722.1 | protein_coding | 2/7 | 2907/9290 | 2506/4500 | 836/1499 | chr19 | TogoVar | ||
ARHGAP35_chr19_46855997_47010077 | 46921224 | G | A | missense_variant | MODERATE | HG03195.hp1 | a0004 | a0004c0008 | a0004c0008t0015 | a0004c0008t0015g0036 | 1 | 298 | 0.0034 | 0 | c.254 others(4): Show |
p.Arg others(6): Show |
ARHGAP35 | ENSG00000160007.20 | transcript | ENST00000672722.1 | protein_coding | 2/7 | 2950/9290 | 2549/4500 | 850/1499 | chr19 | TogoVar | ||
ARHGAP35_chr19_46855997_47010077 | 46921636 | A | C | missense_variant | MODERATE | HG02647.hp1 | a0005 | a0005c0012 | a0005c0012t0011 | a0005c0012t0011g0261 | 1 | 298 | 0.0034 | 0 | c.296 others(4): Show |
p.Glu others(6): Show |
ARHGAP35 | ENSG00000160007.20 | transcript | ENST00000672722.1 | protein_coding | 2/7 | 3362/9290 | 2961/4500 | 987/1499 | chr19 | TogoVar | ||
ARHGAP35_chr19_46855997_47010077 | 47000641 | A | G | missense_variant | MODERATE | HG02965.hp2 | a0006 | a0006c0010 | a0006c0010t0004 | a0006c0010t0004g0027 | 1 | 298 | 0.0034 | 0 | c.445 others(4): Show |
p.Met others(7): Show |
ARHGAP35 | ENSG00000160007.20 | transcript | ENST00000672722.1 | protein_coding | 7/7 | 4854/9290 | 4453/4500 | 1485/1499 | chr19 | TogoVar | ||
ARHGAP36_chrX_131053346_131094885 | 131086617 | G | C | missense_variant | MODERATE | NA19062.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 | 1 | 302 | 0.0033 | 0 | c.143 others(4): Show |
p.Ala others(6): Show |
ARHGAP36 | ENSG00000147256.12 | transcript | ENST00000276211.10 | protein_coding | 11/12 | 1679/2985 | 1438/1644 | 480/547 | chrX | TogoVar | ||
ARHGAP39_chr8_144524179_144690846 | 144545770 | C | T | missense_variant | MODERATE | HG02622.hp1 | a0005 | a0005c0013 | a0005c0013t0002 | a0005c0013t0002g0195 | 1 | 246 | 0.0041 | 0 | c.200 others(4): Show |
p.Arg others(6): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 6/12 | 2242/4830 | 2000/3345 | 667/1114 | chr8 | TogoVar | ||
ARHGAP39_chr8_144524179_144690846 | 144547180 | C | T | missense_variant | MODERATE | HG00558.hp2 HG02155.hp1 |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0067a0002c0008t0001g0142 | 2 | 246 | 0.0081 | 0 | c.190 others(4): Show |
p.Val others(6): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 5/12 | 2148/4830 | 1906/3345 | 636/1114 | chr8 | TogoVar | ||
ARHGAP39_chr8_144524179_144690846 | 144547677 | T | C | missense_variant | MODERATE | HG00408.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0008 | 1 | 246 | 0.0041 | 0 | c.140 others(4): Show |
p.Glu others(6): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 5/12 | 1651/4830 | 1409/3345 | 470/1114 | chr8 | TogoVar | ||
ARHGAP39_chr8_144524179_144690846 | 144547852 | C | G | missense_variant | MODERATE | HG02622.hp1 | a0005 | a0005c0013 | a0005c0013t0002 | a0005c0013t0002g0195 | 1 | 246 | 0.0041 | 0 | c.123 others(4): Show |
p.Ala others(6): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 5/12 | 1476/4830 | 1234/3345 | 412/1114 | chr8 | TogoVar | ||
ARHGAP39_chr8_144524179_144690846 | 144548227 | G | C | missense_variant | MODERATE | HG02630.hp1 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0072 | 1 | 246 | 0.0041 | 0 | c.859 others(3): Show |
p.Pro others(6): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 5/12 | 1101/4830 | 859/3345 | 287/1114 | chr8 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38601952 | C | T | missense_variant | MODERATE | HG02056.hp2 | a0024 | a0024c0037 | a0024c0037t0001 | a0024c0037t0001g0185 | 1 | 350 | 0.0029 | 0 | c.10C others(2): Show |
p.Pro others(4): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 1/15 | 144/2967 | 10/2028 | 4/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38602019 | G | A | missense_variant | MODERATE | HG01243.hp2 | a0014 | a0014c0022 | a0014c0022t0007 | a0014c0022t0007g0101 | 1 | 350 | 0.0029 | 0 | c.77G others(2): Show |
p.Arg others(5): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 1/15 | 211/2967 | 77/2028 | 26/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38623364 | G | A | missense_variant | MODERATE | HG02886.hp2 HG02895.hp2 HG02896.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0029a0005c0006t0002g0087a0005c0006t0002g0106others(1): Show | 5 | 350 | 0.0143 | 0 | c.143 others(3): Show |
p.Gly others(5): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 2/15 | 277/2967 | 143/2028 | 48/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38623375 | G | A | missense_variant | MODERATE | HG00642.hp2 HG01433.hp2 HG01516.hp2 others(15): Show |
a0002a0013 | a0002c0003a0002c0024a0013c0015 | a0002c0003t0003a0002c0003t0004a0002c0003t0005others(3): Show | a0002c0003t0003g0168a0002c0003t0004g0010a0002c0003t0004g0027others(13): Show | 18 | 350 | 0.0514 | 0 | c.154 others(3): Show |
p.Gly others(5): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 2/15 | 288/2967 | 154/2028 | 52/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38623379 | G | A | missense_variant | MODERATE | HG01884.hp2 HG02257.hp1 HG02630.hp2 others(5): Show |
a0006a0011a0015 | a0006c0009a0006c0026a0011c0016others(1): Show | a0006c0009t0006a0006c0009t0013a0006c0026t0002others(2): Show | a0006c0009t0006g0068a0006c0009t0006g0069a0006c0009t0006g0070others(5): Show | 8 | 350 | 0.0229 | 0 | c.158 others(3): Show |
p.Arg others(5): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 2/15 | 292/2967 | 158/2028 | 53/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38623540 | G | A | missense_variant | MODERATE | HG02698.hp1 HG03654.hp1 HG03669.hp1 |
a0010 | a0010c0012 | a0010c0012t0007a0010c0012t0009 | a0010c0012t0007g0060a0010c0012t0007g0098a0010c0012t0009g0239 | 3 | 350 | 0.0086 | 0 | c.319 others(3): Show |
p.Glu others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 2/15 | 453/2967 | 319/2028 | 107/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38627126 | C | T | missense_variant | MODERATE | HG01361.hp2 HG01891.hp1 HG02109.hp2 others(7): Show |
a0003a0009 | a0003c0005a0003c0036a0009c0019others(1): Show | a0003c0005t0001a0003c0005t0002a0003c0036t0002others(3): Show | a0003c0005t0001g0138a0003c0005t0001g0196a0003c0005t0002g0008others(6): Show | 10 | 350 | 0.0286 | 0 | c.469 others(3): Show |
p.Arg others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 3/15 | 603/2967 | 469/2028 | 157/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38628933 | T | A | missense_variant | MODERATE | HG01952.hp2 | a0023 | a0023c0027 | a0023c0027t0001 | a0023c0027t0001g0004 | 1 | 350 | 0.0029 | 0 | c.565 others(3): Show |
p.Ser others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 4/15 | 699/2967 | 565/2028 | 189/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38629553 | A | G | missense_variant | MODERATE | HG02559.hp1 HG02622.hp1 HG02630.hp1 others(4): Show |
a0004a0022 | a0004c0011a0004c0014a0022c0023 | a0004c0011t0004a0004c0011t0007a0004c0014t0005others(1): Show | a0004c0011t0004g0114a0004c0011t0004g0312a0004c0011t0004g0313others(3): Show | 7 | 350 | 0.0200 | 0 | c.686 others(3): Show |
p.Asn others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 5/15 | 820/2967 | 686/2028 | 229/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38629619 | G | A | missense_variant | MODERATE | NA19074.hp1 | a0016 | a0016c0028 | a0016c0028t0001 | a0016c0028t0001g0116 | 1 | 350 | 0.0029 | 0 | c.752 others(3): Show |
p.Gly others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 5/15 | 886/2967 | 752/2028 | 251/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38634765 | C | T | missense_variant | MODERATE | HG02559.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
a0004a0021a0022 | a0004c0011a0004c0014a0021c0032others(1): Show | a0004c0011t0004a0004c0011t0007a0004c0014t0005others(2): Show | a0004c0011t0004g0114a0004c0011t0004g0312a0004c0011t0004g0313others(4): Show | 8 | 350 | 0.0229 | 0 | c.929 others(3): Show |
p.Ala others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 6/15 | 1063/2967 | 929/2028 | 310/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38639281 | G | A | missense_variant | MODERATE | HG01256.hp2 | a0020 | a0020c0033 | a0020c0033t0002 | a0020c0033t0002g0056 | 1 | 350 | 0.0029 | 0 | c.117 others(4): Show |
p.Glu others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 9/15 | 1308/2967 | 1174/2028 | 392/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38639303 | C | G | missense_variant | MODERATE | HG02647.hp2 HG03453.hp1 |
a0012 | a0012c0018 | a0012c0018t0004 | a0012c0018t0004g0078a0012c0018t0004g0088 | 2 | 350 | 0.0057 | 0 | c.119 others(4): Show |
p.Ser others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 9/15 | 1330/2967 | 1196/2028 | 399/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38639336 | C | T | missense_variant | MODERATE | HG03041.hp1 NA20129.hp2 |
a0013 | a0013c0015 | a0013c0015t0005 | a0013c0015t0005g0163a0013c0015t0005g0248 | 2 | 350 | 0.0057 | 0 | c.122 others(4): Show |
p.Pro others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 9/15 | 1363/2967 | 1229/2028 | 410/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38643737 | C | T | missense_variant | MODERATE | HG01261.hp1 HG01884.hp1 HG01891.hp2 others(3): Show |
a0008a0022 | a0008c0013a0008c0017a0022c0023 | a0008c0013t0008a0008c0017t0008a0022c0023t0011 | a0008c0013t0008g0028a0008c0013t0008g0303a0008c0017t0008g0046others(2): Show | 6 | 350 | 0.0171 | 0 | c.139 others(4): Show |
p.Arg others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 11/15 | 1530/2967 | 1396/2028 | 466/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38643747 | A | T | missense_variant | MODERATE | HG01109.hp1 HG02257.hp1 HG02896.hp2 others(4): Show |
a0007a0011 | a0007c0010a0007c0040a0011c0016 | a0007c0010t0010a0007c0010t0012a0007c0040t0004others(1): Show | a0007c0010t0010g0224a0007c0010t0010g0307a0007c0010t0012g0129others(4): Show | 7 | 350 | 0.0200 | 0 | c.140 others(4): Show |
p.His others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 11/15 | 1540/2967 | 1406/2028 | 469/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38643813 | G | A | missense_variant | MODERATE | HG02145.hp1 | a0017 | a0017c0034 | a0017c0034t0007 | a0017c0034t0007g0100 | 1 | 350 | 0.0029 | 0 | c.147 others(4): Show |
p.Arg others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 11/15 | 1606/2967 | 1472/2028 | 491/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38643825 | T | C | missense_variant | MODERATE | HG01884.hp2 | a0015 | a0015c0025 | a0015c0025t0004 | a0015c0025t0004g0054 | 1 | 350 | 0.0029 | 0 | c.148 others(4): Show |
p.Leu others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 11/15 | 1618/2967 | 1484/2028 | 495/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38643887 | C | A | missense_variant | MODERATE | HG01109.hp1 HG02257.hp1 HG02896.hp2 others(4): Show |
a0007a0011 | a0007c0010a0007c0040a0011c0016 | a0007c0010t0010a0007c0010t0012a0007c0040t0004others(1): Show | a0007c0010t0010g0224a0007c0010t0010g0307a0007c0010t0012g0129others(4): Show | 7 | 350 | 0.0200 | 0 | c.154 others(4): Show |
p.His others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 11/15 | 1680/2967 | 1546/2028 | 516/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38646065 | G | T | missense_variant | MODERATE | HG03540.hp2 | a0019 | a0019c0039 | a0019c0039t0013 | a0019c0039t0013g0284 | 1 | 350 | 0.0029 | 0 | c.158 others(4): Show |
p.Ala others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 12/15 | 1722/2967 | 1588/2028 | 530/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38646101 | C | G | missense_variant | MODERATE | HG02109.hp2 HG02572.hp2 HG02809.hp1 others(4): Show |
a0003 | a0003c0005a0003c0036 | a0003c0005t0001a0003c0005t0002a0003c0036t0002 | a0003c0005t0001g0138a0003c0005t0001g0196a0003c0005t0002g0008others(3): Show | 7 | 350 | 0.0200 | 0 | c.162 others(4): Show |
p.Arg others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 12/15 | 1758/2967 | 1624/2028 | 542/675 | chr20 | TogoVar | ||
ARHGAP40_chr20_38596809_38655653 | 38646146 | A | C | missense_variant | MODERATE | NA18977.hp1 | a0018 | a0018c0031 | a0018c0031t0002 | a0018c0031t0002g0290 | 1 | 350 | 0.0029 | 0 | c.166 others(4): Show |
p.Met others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 12/15 | 1803/2967 | 1669/2028 | 557/675 | chr20 | TogoVar | ||
ARHGAP42_chr11_100682288_100998941 | 100687779 | A | G | missense_variant | MODERATE | NA19084.hp2 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0182 | 1 | 286 | 0.0035 | 0 | c.101 others(3): Show |
p.Lys others(5): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 1/24 | 492/8156 | 101/2625 | 34/874 | chr11 | TogoVar | ||
ARHGAP42_chr11_100682288_100998941 | 100921510 | A | T | missense_variant | MODERATE | HG03834.hp2 | a0005 | a0005c0016 | a0005c0016t0012 | a0005c0016t0012g0103 | 1 | 286 | 0.0035 | 0 | c.503 others(3): Show |
p.Asp others(6): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 6/24 | 894/8156 | 503/2625 | 168/874 | chr11 | TogoVar | ||
ARHGAP42_chr11_100682288_100998941 | 100949932 | G | A | missense_variant | MODERATE | HG01106.hp2 HG01261.hp2 HG02004.hp1 others(1): Show |
a0003 | a0003c0007 | a0003c0007t0005 | a0003c0007t0005g0058a0003c0007t0005g0059a0003c0007t0005g0061others(1): Show | 4 | 286 | 0.0140 | 0 | c.113 others(4): Show |
p.Ala others(6): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 12/24 | 1529/8156 | 1138/2625 | 380/874 | chr11 | TogoVar | ||
ARHGAP42_chr11_100682288_100998941 | 100973305 | G | A | missense_variant | MODERATE | HG01884.hp1 | a0004 | a0004c0013 | a0004c0013t0038 | a0004c0013t0038g0236 | 1 | 286 | 0.0035 | 0 | c.168 others(4): Show |
p.Val others(6): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 18/24 | 2072/8156 | 1681/2625 | 561/874 | chr11 | TogoVar | ||
ARHGAP42_chr11_100682288_100998941 | 100976338 | G | A | missense_variant | MODERATE | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(157): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0011others(157): Show | 160 | 286 | 0.5594 | 0 | c.213 others(4): Show |
p.Val others(6): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 20/24 | 2528/8156 | 2137/2625 | 713/874 | chr11 | TogoVar | ||
ARHGAP44_chr17_12784498_12996643 | 12941123 | C | T | missense_variant others(1): Show |
MODERATE | HG03942.hp2 | a0003 | a0003c0017 | a0003c0017t0003 | a0003c0017t0003g0068 | 1 | 230 | 0.0044 | 0 | c.650 others(3): Show |
p.Thr others(6): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 8/21 | 991/4270 | 650/2457 | 217/818 | chr17 | TogoVar | ||
ARHGAP44_chr17_12784498_12996643 | 12949171 | A | G | missense_variant | MODERATE | NA18982.hp1 | a0006 | a0006c0015 | a0006c0015t0004 | a0006c0015t0004g0197 | 1 | 230 | 0.0044 | 0 | c.893 others(3): Show |
p.Lys others(6): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 11/21 | 1234/4270 | 893/2457 | 298/818 | chr17 | TogoVar | ||
ARHGAP44_chr17_12784498_12996643 | 12958761 | G | A | missense_variant | MODERATE | HG02132.hp2 NA19084.hp1 |
a0002 | a0002c0007 | a0002c0007t0001a0002c0007t0003 | a0002c0007t0001g0011a0002c0007t0003g0052 | 2 | 230 | 0.0087 | 0 | c.138 others(4): Show |
p.Val others(6): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 16/21 | 1728/4270 | 1387/2457 | 463/818 | chr17 | TogoVar | ||
ARHGAP44_chr17_12784498_12996643 | 12980152 | G | A | missense_variant | MODERATE | HG03831.hp1 | a0005 | a0005c0013 | a0005c0013t0003 | a0005c0013t0003g0055 | 1 | 230 | 0.0044 | 0 | c.185 others(4): Show |
p.Ala others(6): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 19/21 | 2199/4270 | 1858/2457 | 620/818 | chr17 | TogoVar | ||
ARHGAP44_chr17_12784498_12996643 | 12984786 | C | T | missense_variant | MODERATE | NA19074.hp2 | a0004 | a0004c0016 | a0004c0016t0002 | a0004c0016t0002g0169 | 1 | 230 | 0.0044 | 0 | c.219 others(4): Show |
p.Pro others(6): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 20/21 | 2536/4270 | 2195/2457 | 732/818 | chr17 | TogoVar | ||
ARHGAP45_chr19_1062167_1091628 | 1068739 | G | A | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(160): Show |
a0001a0005a0008others(6): Show | a0001c0002a0001c0004a0001c0017others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0013others(29): Show | a0001c0002t0001g0002a0001c0002t0001g0007a0001c0002t0001g0018others(123): Show | 163 | 418 | 0.3900 | 0 | c.416 others(3): Show |
p.Arg others(6): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 2/23 | 655/4272 | 416/3411 | 139/1136 | chr19 | TogoVar | ||
ARHGAP45_chr19_1062167_1091628 | 1074001 | A | T | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(306): Show |
a0001a0002a0004others(16): Show | a0001c0002a0001c0004a0001c0017others(44): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0013others(71): Show | a0001c0002t0001g0002a0001c0002t0001g0007a0001c0002t0001g0018others(237): Show | 309 | 418 | 0.7392 | 0 | c.777 others(3): Show |
p.Glu others(6): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 6/23 | 1016/4272 | 777/3411 | 259/1136 | chr19 | TogoVar | ||
ARHGAP45_chr19_1062167_1091628 | 1077948 | C | T | missense_variant | MODERATE | HG02572.hp1 HG02895.hp1 HG02897.hp2 others(4): Show |
a0009a0015a0016 | a0009c0023a0009c0024a0009c0039others(2): Show | a0009c0023t0002a0009c0024t0002a0009c0039t0015others(2): Show | a0009c0023t0002g0239a0009c0023t0002g0240a0009c0024t0002g0171others(4): Show | 7 | 418 | 0.0168 | 0 | c.127 others(4): Show |
p.Ala others(6): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 11/23 | 1516/4272 | 1277/3411 | 426/1136 | chr19 | TogoVar | ||
ARHGAP45_chr19_1062167_1091628 | 1077971 | G | A | missense_variant | MODERATE | HG03139.hp1 | a0014 | a0014c0032 | a0014c0032t0001 | a0014c0032t0001g0234 | 1 | 418 | 0.0024 | 0 | c.130 others(4): Show |
p.Ala others(6): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 11/23 | 1539/4272 | 1300/3411 | 434/1136 | chr19 | TogoVar | ||
ARHGAP45_chr19_1062167_1091628 | 1077986 | A | G | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(174): Show |
a0001a0004a0007others(7): Show | a0001c0002a0001c0004a0001c0017others(23): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0013others(38): Show | a0001c0002t0001g0002a0001c0002t0001g0007a0001c0002t0001g0018others(138): Show | 177 | 418 | 0.4234 | 0 | c.131 others(4): Show |
p.Ser others(6): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 11/23 | 1554/4272 | 1315/3411 | 439/1136 | chr19 | TogoVar |