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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF18_chr19_7343937_7477478 | 7441769 | T | C | splice_region_variant others(1): Show |
LOW | NA20129.hp2 | a0001 | a0001c0042 | a0001c0042t0025 | a0001c0042t0025g0250 | 1 | 298 | 0.0034 | 0 | c.121 others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 12/28 | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7441914 | C | T | missense_variant others(1): Show |
MODERATE | HG02976.hp1 | a0033 | a0033c0030 | a0033c0030t0006 | a0033c0030t0006g0255 | 1 | 298 | 0.0034 | 0 | c.122 others(4): Show |
p.Pro others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 13/29 | 1637/6681 | 1222/4086 | 408/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7442050 | A | T | missense_variant others(1): Show |
MODERATE | HG02970.hp2 HG02976.hp1 HG03486.hp1 |
a0015a0017a0033 | a0015c0057a0017c0051a0033c0030 | a0015c0057t0001a0017c0051t0006a0033c0030t0006 | a0015c0057t0001g0269a0017c0051t0006g0256a0033c0030t0006g0255 | 3 | 298 | 0.0101 | 0 | c.135 others(4): Show |
p.Tyr others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 13/29 | 1773/6681 | 1358/4086 | 453/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7459997 | G | T | splice_region_variant others(1): Show |
LOW | NA18944.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0207 | 1 | 298 | 0.0034 | 0 | c.245 others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 20/28 | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7460001 | G | A | splice_region_variant others(1): Show |
LOW | NA18906.hp2 | a0001 | a0001c0016 | a0001c0016t0014 | a0001c0016t0014g0268 | 1 | 298 | 0.0034 | 0 | c.245 others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 20/28 | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7464560 | A | G | missense_variant others(1): Show |
MODERATE | NA18989.hp2 | a0022 | a0022c0050 | a0022c0050t0003 | a0022c0050t0003g0072 | 1 | 298 | 0.0034 | 0 | c.277 others(4): Show |
p.Asn others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 23/29 | 3189/6681 | 2774/4086 | 925/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7467125 | G | C | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00438.hp1 HG00621.hp2 others(15): Show |
a0001a0002a0010others(3): Show | a0001c0018a0002c0005a0010c0017others(3): Show | a0001c0018t0001a0002c0005t0001a0002c0005t0013others(4): Show | a0001c0018t0001g0101a0001c0018t0001g0118a0001c0018t0001g0136others(15): Show | 18 | 298 | 0.0604 | 0 | c.300 others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 25/28 | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7467689 | G | A | splice_region_variant others(1): Show |
LOW | HG03834.hp2 NA18945.hp2 NA18983.hp2 others(3): Show |
a0001a0019 | a0001c0001a0019c0045 | a0001c0001t0002a0001c0001t0011a0019c0045t0002 | a0001c0001t0002g0202a0001c0001t0011g0034a0001c0001t0011g0223others(3): Show | 6 | 298 | 0.0201 | 0 | c.348 others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 26/28 | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7467690 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(85): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0013a0001c0016others(22): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(28): Show | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0001g0077others(85): Show | 88 | 298 | 0.2953 | 0 | c.348 others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 26/28 | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7467691 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(85): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0013a0001c0016others(22): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(28): Show | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0001g0077others(85): Show | 88 | 298 | 0.2953 | 0 | c.348 others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 26/28 | chr19 | TogoVar | ||||||
ARHGEF19_chr1_16192854_16217652 | 16204752 | G | A | splice_region_variant others(1): Show |
LOW | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 362 | 0.0028 | 0 | c.190 others(6): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 12/15 | chr1 | TogoVar | ||||||
ARHGEF1_chr19_41878184_41912452 | 41888059 | T | C | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(82): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0124others(69): Show | 85 | 234 | 0.3633 | 0 | c.-19 others(5): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 1/28 | chr19 | TogoVar | ||||||
ARHGEF1_chr19_41878184_41912452 | 41888066 | C | T | splice_region_variant | LOW | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0001 | 1 | 234 | 0.0043 | 0 | c.-17 others(3): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 2/29 | chr19 | TogoVar | ||||||
ARHGEF1_chr19_41878184_41912452 | 41888748 | C | G | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG02109.hp2 HG02818.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0010 | a0001c0001t0001a0001c0003t0001a0004c0010t0001 | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0124others(8): Show | 11 | 234 | 0.0470 | 0 | c.112 others(5): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 3/28 | chr19 | TogoVar | ||||||
ARHGEF1_chr19_41878184_41912452 | 41894199 | C | T | splice_region_variant others(1): Show |
LOW | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 234 | 0.0043 | 0 | c.645 others(5): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 8/28 | chr19 | TogoVar | ||||||
ARHGEF1_chr19_41878184_41912452 | 41894619 | G | A | splice_region_variant others(1): Show |
LOW | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 234 | 0.0043 | 0 | c.842 others(5): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 10/28 | chr19 | TogoVar | ||||||
ARHGEF1_chr19_41878184_41912452 | 41898444 | C | T | missense_variant others(1): Show |
MODERATE | HG02040.hp1 NA18940.hp2 NA18998.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0001a0002c0004t0001g0047a0002c0004t0001g0048 | 4 | 234 | 0.0171 | 0 | c.112 others(4): Show |
p.Pro others(6): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 14/29 | 1249/3229 | 1124/2739 | 375/912 | chr19 | TogoVar | ||
ARHGEF1_chr19_41878184_41912452 | 41904212 | G | A | splice_region_variant others(1): Show |
LOW | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 234 | 0.0043 | 0 | c.199 others(6): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 21/28 | chr19 | TogoVar | ||||||
ARHGEF1_chr19_41878184_41912452 | 41905934 | T | C | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG02109.hp2 HG02922.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0010 | a0001c0001t0001a0001c0003t0001a0004c0010t0001 | a0001c0001t0001g0122a0001c0003t0001g0022a0001c0003t0001g0023others(5): Show | 8 | 234 | 0.0342 | 0 | c.240 others(6): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 25/28 | chr19 | TogoVar | ||||||
ARHGEF25_chr12_57606435_57622245 | 57612922 | C | G | splice_region_variant others(1): Show |
LOW | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 424 | 0.0024 | 0 | c.98- others(4): Show |
ARHGEF25 | ENSG00000240771.8 | transcript | ENST00000286494.9 | protein_coding | 1/14 | chr12 | TogoVar | ||||||
ARHGEF25_chr12_57606435_57622245 | 57613366 | G | C | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00544.hp2 HG02015.hp2 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0005a0002c0002t0003g0016a0002c0002t0003g0024 | 18 | 424 | 0.0425 | 0 | c.408 others(5): Show |
ARHGEF25 | ENSG00000240771.8 | transcript | ENST00000286494.9 | protein_coding | 3/14 | chr12 | TogoVar | ||||||
ARHGEF25_chr12_57606435_57622245 | 57613688 | T | A | splice_region_variant others(1): Show |
LOW | NA18941.hp1 NA18949.hp1 NA18964.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0031 | 8 | 424 | 0.0189 | 0 | c.486 others(5): Show |
ARHGEF25 | ENSG00000240771.8 | transcript | ENST00000286494.9 | protein_coding | 4/14 | chr12 | TogoVar | ||||||
ARHGEF25_chr12_57606435_57622245 | 57616016 | C | T | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG02559.hp1 HG02976.hp1 others(1): Show |
a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0001a0003c0008t0001g0020 | 4 | 424 | 0.0094 | 0 | c.141 others(4): Show |
p.Asn others(6): Show |
ARHGEF25 | ENSG00000240771.8 | transcript | ENST00000286494.9 | protein_coding | 13/15 | 1879/2554 | 1419/1743 | 473/580 | chr12 | TogoVar | ||
ARHGEF25_chr12_57606435_57622245 | 57617244 | C | A | splice_region_variant | LOW | NA18953.hp2 | a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0001 | 1 | 424 | 0.0024 | 0 | c.*35 others(4): Show |
ARHGEF25 | ENSG00000240771.8 | transcript | ENST00000286494.9 | protein_coding | 15/15 | chr12 | TogoVar | ||||||
ARHGEF25_chr12_57606435_57622245 | 57617245 | C | T | splice_region_variant | LOW | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 424 | 0.0024 | 0 | c.*35 others(4): Show |
ARHGEF25 | ENSG00000240771.8 | transcript | ENST00000286494.9 | protein_coding | 15/15 | chr12 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154152768 | C | T | splice_region_variant others(1): Show |
LOW | NA18986.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0032 | 1 | 283 | 0.0035 | 0 | c.132 others(6): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 5/14 | chr3 | TogoVar | ||||||
ARHGEF26_chr3_154116390_154262825 | 154254716 | T | G | splice_region_variant others(1): Show |
LOW | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 283 | 0.0035 | 0 | c.236 others(6): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73776509 | G | C | splice_region_variant others(1): Show |
LOW | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0133 | 1 | 188 | 0.0053 | 0 | c.660 others(5): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 5/35 | chr5 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73795324 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00408.hp2 HG00642.hp1 others(53): Show |
a0001a0002a0003others(14): Show | a0001c0021a0001c0028a0002c0002others(23): Show | a0001c0021t0008a0001c0028t0001a0002c0002t0001others(38): Show | a0001c0021t0008g0102a0001c0028t0001g0146a0001c0028t0001g0181others(53): Show | 56 | 188 | 0.2979 | 0 | c.964 others(5): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 8/35 | chr5 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73795331 | C | T | missense_variant others(1): Show |
MODERATE | HG02602.hp2 | a0021 | a0021c0045 | a0021c0045t0007 | a0021c0045t0007g0172 | 1 | 188 | 0.0053 | 0 | c.964 others(3): Show |
p.Arg others(6): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 9/36 | 1102/6233 | 964/5118 | 322/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73887599 | A | G | splice_region_variant others(1): Show |
LOW | HG02258.hp1 | a0004 | a0004c0060 | a0004c0060t0003 | a0004c0060t0003g0147 | 1 | 188 | 0.0053 | 0 | c.331 others(6): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 25/35 | chr5 | TogoVar | ||||||
ARHGEF2_chr1_155941854_155983547 | 155950489 | A | G | splice_region_variant others(1): Show |
LOW | HG01069.hp2 HG01071.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0124 | 3 | 284 | 0.0106 | 0 | c.270 others(6): Show |
ARHGEF2 | ENSG00000116584.22 | transcript | ENST00000361247.9 | protein_coding | 20/21 | chr1 | TogoVar | ||||||
ARHGEF33_chr2_38884875_38980454 | 38895754 | GT | G | splice_region_variant others(1): Show |
LOW | HG02572.hp2 HG02723.hp2 HG03225.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0202a0001c0001t0003g0209a0001c0001t0004g0266others(3): Show | 6 | 278 | 0.0216 | -1 | c.-15 others(7): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARHGEF37_chr5_149576498_149639968 | 149616569 | C | T | missense_variant others(1): Show |
MODERATE | HG00673.hp1 HG02129.hp2 |
a0014 | a0014c0022 | a0014c0022t0004 | a0014c0022t0004g0344a0014c0022t0004g0366 | 2 | 394 | 0.0051 | 0 | c.461 others(3): Show |
p.Pro others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 5/13 | 599/4943 | 461/2028 | 154/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149616765 | G | A | splice_region_variant others(1): Show |
LOW | HG00558.hp1 HG00597.hp1 HG00609.hp1 others(30): Show |
a0005a0007a0013 | a0005c0007a0005c0027a0005c0033others(2): Show | a0005c0007t0003a0005c0027t0003a0005c0033t0003others(3): Show | a0005c0007t0003g0144a0005c0007t0003g0145a0005c0007t0003g0147others(30): Show | 33 | 394 | 0.0838 | 0 | c.657 others(3): Show |
p.Val others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 5/13 | 795/4943 | 657/2028 | 219/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149627077 | C | T | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(127): Show |
a0001a0006a0009others(4): Show | a0001c0002a0001c0005a0001c0030others(7): Show | a0001c0002t0004a0001c0002t0005a0001c0002t0006others(23): Show | a0001c0002t0004g0352a0001c0002t0005g0367a0001c0002t0005g0368others(119): Show | 130 | 394 | 0.3300 | 0 | c.146 others(4): Show |
p.Pro others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 11/13 | 1604/4943 | 1466/2028 | 489/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149627274 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0003a0004others(12): Show | a0001c0002a0001c0005a0001c0030others(19): Show | a0001c0002t0004a0001c0002t0005a0001c0002t0006others(50): Show | a0001c0002t0004g0352a0001c0002t0005g0367a0001c0002t0005g0368others(240): Show | 257 | 394 | 0.6523 | 0 | c.166 others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 11/12 | chr5 | TogoVar | ||||||
ARHGEF37_chr5_149576498_149639968 | 149627275 | C | T | splice_region_variant others(1): Show |
LOW | HG03654.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0138 | 1 | 394 | 0.0025 | 0 | c.166 others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 11/12 | chr5 | TogoVar | ||||||
ARHGEF37_chr5_149576498_149639968 | 149627279 | A | G | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00438.hp1 HG00597.hp2 others(55): Show |
a0004a0018a0020 | a0004c0004a0004c0010a0004c0036others(2): Show | a0004c0004t0002a0004c0004t0004a0004c0004t0009others(10): Show | a0004c0004t0002g0228a0004c0004t0004g0006a0004c0004t0004g0013others(52): Show | 58 | 394 | 0.1472 | 0 | c.166 others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 11/12 | chr5 | TogoVar | ||||||
ARHGEF38_chr4_105547620_105685914 | 105656685 | ATTATAGG others(5274): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02004.hp1 | a0007 | a0007c0019 | a0007c0019t0005 | a0007c0019t0005g0005 | 1 | 186 | 0.0054 | -5281 | c.123 others(18): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGEF3_chr3_56722420_56806949 | 56745467 | G | A | splice_region_variant others(1): Show |
LOW | NA18977.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0279 | 1 | 358 | 0.0028 | 0 | c.613 others(5): Show |
ARHGEF3 | ENSG00000163947.12 | transcript | ENST00000296315.8 | protein_coding | 6/9 | chr3 | TogoVar | ||||||
ARHGEF40_chr14_21065304_21095248 | 21075498 | G | A | splice_region_variant others(1): Show |
LOW | HG03098.hp1 HG03139.hp1 |
a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0163a0009c0014t0001g0164 | 2 | 386 | 0.0052 | 0 | c.161 others(4): Show |
p.Thr others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 4/24 | 1710/5893 | 1617/4560 | 539/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21075771 | C | T | splice_region_variant others(1): Show |
LOW | HG04184.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0085 | 1 | 386 | 0.0026 | 0 | c.173 others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 5/23 | chr14 | TogoVar | ||||||
ARHGEF40_chr14_21065304_21095248 | 21076646 | T | C | splice_region_variant others(1): Show |
LOW | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0106 | 1 | 386 | 0.0026 | 0 | c.191 others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 7/23 | chr14 | TogoVar | ||||||
ARHGEF40_chr14_21065304_21095248 | 21078278 | A | G | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02258.hp2 HG02965.hp1 others(2): Show |
a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0016 | 5 | 386 | 0.0130 | 0 | c.213 others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 9/23 | chr14 | TogoVar | ||||||
ARHGEF40_chr14_21065304_21095248 | 21087322 | G | A | missense_variant others(1): Show |
MODERATE | HG00140.hp1 | a0019 | a0019c0031 | a0019c0031t0001 | a0019c0031t0001g0020 | 1 | 386 | 0.0026 | 0 | c.424 others(4): Show |
p.Ala others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 21/24 | 4339/5893 | 4246/4560 | 1416/1519 | chr14 | TogoVar | ||
ARHGEF4_chr2_130831914_131052253 | 131041952 | C | T | splice_region_variant others(1): Show |
LOW | HG01257.hp2 HG01258.hp1 HG02615.hp2 others(4): Show |
a0001a0003a0009 | a0001c0007a0003c0030a0009c0046 | a0001c0007t0004a0003c0030t0004a0009c0046t0009 | a0001c0007t0004g0089a0001c0007t0004g0090a0001c0007t0004g0091others(4): Show | 7 | 144 | 0.0486 | 0 | c.502 others(6): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 10/13 | chr2 | TogoVar | ||||||
ARHGEF5_chr7_144350402_144385632 | 144373291 | C | T | splice_region_variant others(1): Show |
LOW | HG04228.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0102 | 1 | 288 | 0.0035 | 0 | c.414 others(6): Show |
ARHGEF5 | ENSG00000050327.15 | transcript | ENST00000056217.10 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
ARHGEF6_chrX_136660550_136785932 | 136681971 | A | G | splice_region_variant others(1): Show |
LOW | HG02630.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0005 | 2 | 247 | 0.0081 | 0 | c.148 others(6): Show |
ARHGEF6 | ENSG00000129675.16 | transcript | ENST00000250617.7 | protein_coding | 13/21 | chrX | TogoVar | ||||||
ARHGEF7_chr13_111110310_111310732 | 111153898 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(101): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0092a0001c0001t0001g0097a0001c0001t0001g0129others(101): Show | 104 | 274 | 0.3796 | 0 | c.166 others(5): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 1/21 | chr13 | TogoVar |