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 | 7463931 | G | A | missense_variant | MODERATE | NA18973.hp2 NA19054.hp2 |
a0018a0028 | a0018c0053a0028c0032 | a0018c0053t0001a0028c0032t0001 | a0018c0053t0001g0236a0028c0032t0001g0235 | 2 | 298 | 0.0067 | 0 | c.274 others(4): Show |
p.Asp others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 22/29 | 3164/6681 | 2749/4086 | 917/1361 | 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 | 7464605 | G | A | missense_variant | MODERATE | HG02074.hp2 NA18946.hp2 NA19057.hp1 |
a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0095a0010c0017t0001g0139a0010c0017t0001g0147 | 3 | 298 | 0.0101 | 0 | c.281 others(4): Show |
p.Arg others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 23/29 | 3234/6681 | 2819/4086 | 940/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7467286 | C | G | missense_variant | MODERATE | NA19070.hp1 | a0019 | a0019c0045 | a0019c0045t0002 | a0019c0045t0002g0115 | 1 | 298 | 0.0034 | 0 | c.308 others(4): Show |
p.Arg others(7): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 26/29 | 3497/6681 | 3082/4086 | 1028/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7467287 | G | C | missense_variant | MODERATE | NA19070.hp1 | a0019 | a0019c0045 | a0019c0045t0002 | a0019c0045t0002g0115 | 1 | 298 | 0.0034 | 0 | c.308 others(4): Show |
p.Arg others(7): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 26/29 | 3498/6681 | 3083/4086 | 1028/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7467292 | C | G | missense_variant | MODERATE | NA19070.hp1 | a0019 | a0019c0045 | a0019c0045t0002 | a0019c0045t0002g0115 | 1 | 298 | 0.0034 | 0 | c.308 others(4): Show |
p.Gln others(7): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 26/29 | 3503/6681 | 3088/4086 | 1030/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7467322 | C | A | missense_variant | MODERATE | NA19043.hp1 | a0020 | a0020c0044 | a0020c0044t0001 | a0020c0044t0001g0279 | 1 | 298 | 0.0034 | 0 | c.311 others(4): Show |
p.Gln others(7): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 26/29 | 3533/6681 | 3118/4086 | 1040/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7467421 | G | A | missense_variant | MODERATE | HG01884.hp1 | a0016 | a0016c0026 | a0016c0026t0019 | a0016c0026t0019g0046 | 1 | 298 | 0.0034 | 0 | c.321 others(4): Show |
p.Glu others(7): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 26/29 | 3632/6681 | 3217/4086 | 1073/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7467442 | G | A | missense_variant | MODERATE | NA18964.hp2 | a0021 | a0021c0049 | a0021c0049t0003 | a0021c0049t0003g0027 | 1 | 298 | 0.0034 | 0 | c.323 others(4): Show |
p.Glu others(7): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 26/29 | 3653/6681 | 3238/4086 | 1080/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7468964 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(250): Show |
a0001a0002a0004others(24): Show | a0001c0001a0001c0002a0001c0013others(47): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(70): Show | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0001g0077others(250): Show | 253 | 298 | 0.8490 | 0 | c.362 others(4): Show |
p.Asn others(7): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 27/29 | 4035/6681 | 3620/4086 | 1207/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7469102 | G | C | missense_variant | MODERATE | NA19070.hp2 | a0031 | a0031c0034 | a0031c0034t0001 | a0031c0034t0001g0225 | 1 | 298 | 0.0034 | 0 | c.375 others(4): Show |
p.Ser others(7): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 27/29 | 4173/6681 | 3758/4086 | 1253/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7470140 | G | A | missense_variant | MODERATE | HG02055.hp1 HG02647.hp1 HG02723.hp2 others(1): Show |
a0009 | a0009c0012 | a0009c0012t0010 | a0009c0012t0010g0003a0009c0012t0010g0006a0009c0012t0010g0030others(1): Show | 4 | 298 | 0.0134 | 0 | c.392 others(4): Show |
p.Ala others(7): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 29/29 | 4343/6681 | 3928/4086 | 1310/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7470287 | A | G | missense_variant | MODERATE | HG03540.hp2 | a0030 | a0030c0037 | a0030c0037t0001 | a0030c0037t0001g0020 | 1 | 298 | 0.0034 | 0 | c.407 others(4): Show |
p.Ile others(7): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 29/29 | 4490/6681 | 4075/4086 | 1359/1361 | chr19 | TogoVar | ||
ARHGEF19_chr1_16192854_16217652 | 16199162 | A | G | missense_variant | MODERATE | HG00140.hp1 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0084 | 1 | 362 | 0.0028 | 0 | c.223 others(4): Show |
p.Trp others(6): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 15/16 | 2419/3322 | 2239/2409 | 747/802 | chr1 | TogoVar | ||
ARHGEF19_chr1_16192854_16217652 | 16201789 | C | A | missense_variant | MODERATE | HG02145.hp1 | a0011 | a0011c0012 | a0011c0012t0005 | a0011c0012t0005g0048 | 1 | 362 | 0.0028 | 0 | c.213 others(4): Show |
p.Glu others(6): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 14/16 | 2319/3322 | 2139/2409 | 713/802 | chr1 | TogoVar | ||
ARHGEF19_chr1_16192854_16217652 | 16202521 | C | T | missense_variant | MODERATE | NA18979.hp2 NA19068.hp1 NA19079.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0017 | 3 | 362 | 0.0083 | 0 | c.196 others(4): Show |
p.Arg others(6): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 13/16 | 2141/3322 | 1961/2409 | 654/802 | chr1 | TogoVar | ||
ARHGEF19_chr1_16192854_16217652 | 16204838 | G | A | missense_variant | MODERATE | HG02809.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0088 | 1 | 362 | 0.0028 | 0 | c.182 others(4): Show |
p.Pro others(6): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 12/16 | 2008/3322 | 1828/2409 | 610/802 | chr1 | TogoVar | ||
ARHGEF19_chr1_16192854_16217652 | 16205572 | A | G | missense_variant | MODERATE | NA19081.hp2 | a0013 | a0013c0014 | a0013c0014t0001 | a0013c0014t0001g0068 | 1 | 362 | 0.0028 | 0 | c.154 others(4): Show |
p.Phe others(6): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 9/16 | 1727/3322 | 1547/2409 | 516/802 | chr1 | TogoVar | ||
ARHGEF19_chr1_16192854_16217652 | 16206003 | G | A | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00642.hp1 others(6): Show |
a0003a0010 | a0003c0003a0010c0015 | a0003c0003t0001a0010c0015t0001 | a0003c0003t0001g0012a0003c0003t0001g0032a0003c0003t0001g0033others(1): Show | 9 | 362 | 0.0249 | 0 | c.137 others(4): Show |
p.Pro others(6): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 8/16 | 1559/3322 | 1379/2409 | 460/802 | chr1 | TogoVar | ||
ARHGEF19_chr1_16192854_16217652 | 16207552 | C | T | missense_variant | MODERATE | HG01243.hp1 HG02486.hp2 |
a0006 | a0006c0007 | a0006c0007t0001a0006c0007t0009 | a0006c0007t0001g0053a0006c0007t0009g0038 | 2 | 362 | 0.0055 | 0 | c.844 others(3): Show |
p.Glu others(6): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 5/16 | 1024/3322 | 844/2409 | 282/802 | chr1 | TogoVar | ||
ARHGEF19_chr1_16192854_16217652 | 16207760 | C | G | missense_variant | MODERATE | HG00544.hp2 HG00741.hp1 HG01069.hp1 others(83): Show |
a0002a0004 | a0002c0002a0002c0009a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0010others(3): Show | a0002c0002t0001g0010a0002c0002t0001g0076a0002c0002t0002g0002others(12): Show | 86 | 362 | 0.2376 | 0 | c.712 others(3): Show |
p.Glu others(6): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 4/16 | 892/3322 | 712/2409 | 238/802 | chr1 | TogoVar | ||
ARHGEF19_chr1_16192854_16217652 | 16208151 | C | G | missense_variant | MODERATE | HG00544.hp2 HG00741.hp1 HG01069.hp2 others(76): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0010others(1): Show | a0002c0002t0001g0010a0002c0002t0001g0076a0002c0002t0002g0002others(9): Show | 79 | 362 | 0.2182 | 0 | c.487 others(3): Show |
p.Gly others(6): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 3/16 | 667/3322 | 487/2409 | 163/802 | chr1 | TogoVar | ||
ARHGEF19_chr1_16192854_16217652 | 16208213 | C | T | missense_variant | MODERATE | NA18945.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0041 | 1 | 362 | 0.0028 | 0 | c.425 others(3): Show |
p.Arg others(6): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 3/16 | 605/3322 | 425/2409 | 142/802 | chr1 | TogoVar | ||
ARHGEF19_chr1_16192854_16217652 | 16208940 | C | A | missense_variant | MODERATE | HG02027.hp2 NA18992.hp1 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0027 | 2 | 362 | 0.0055 | 0 | c.115 others(3): Show |
p.Ala others(5): Show |
ARHGEF19 | ENSG00000142632.17 | transcript | ENST00000270747.8 | protein_coding | 2/16 | 295/3322 | 115/2409 | 39/802 | chr1 | TogoVar | ||
ARHGEF1_chr19_41878184_41912452 | 41892690 | G | T | missense_variant | MODERATE | HG00639.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0160 | 1 | 234 | 0.0043 | 0 | c.455 others(3): Show |
p.Arg others(6): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 7/29 | 580/3229 | 455/2739 | 152/912 | chr19 | TogoVar | ||
ARHGEF1_chr19_41878184_41912452 | 41894463 | C | T | missense_variant | MODERATE | HG03831.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0167 | 1 | 234 | 0.0043 | 0 | c.757 others(3): Show |
p.Arg others(6): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 10/29 | 882/3229 | 757/2739 | 253/912 | 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 | 41898460 | G | T | missense_variant | MODERATE | HG02109.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0020 | 1 | 234 | 0.0043 | 0 | c.114 others(4): Show |
p.Glu others(6): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 14/29 | 1265/3229 | 1140/2739 | 380/912 | chr19 | TogoVar | ||
ARHGEF1_chr19_41878184_41912452 | 41898477 | C | T | missense_variant | MODERATE | HG01361.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0004 | 1 | 234 | 0.0043 | 0 | c.115 others(4): Show |
p.Ser others(6): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 14/29 | 1282/3229 | 1157/2739 | 386/912 | chr19 | TogoVar | ||
ARHGEF1_chr19_41878184_41912452 | 41903767 | A | G | missense_variant | MODERATE | HG02004.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0006 | 1 | 234 | 0.0043 | 0 | c.190 others(4): Show |
p.Met others(6): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 20/29 | 2025/3229 | 1900/2739 | 634/912 | chr19 | TogoVar | ||
ARHGEF1_chr19_41878184_41912452 | 41905015 | A | C | missense_variant | MODERATE | HG00738.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0089 | 1 | 234 | 0.0043 | 0 | c.222 others(4): Show |
p.Gln others(6): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 23/29 | 2353/3229 | 2228/2739 | 743/912 | chr19 | TogoVar | ||
ARHGEF25_chr12_57606435_57622245 | 57611899 | G | A | missense_variant | MODERATE | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(84): Show |
a0003a0004 | a0003c0003a0003c0005a0003c0008others(3): Show | a0003c0003t0001a0003c0003t0002a0003c0005t0001others(7): Show | a0003c0003t0001g0002a0003c0003t0002g0003a0003c0003t0002g0021others(13): Show | 87 | 424 | 0.2052 | 0 | c.5G> others(1): Show |
p.Arg others(4): Show |
ARHGEF25 | ENSG00000240771.8 | transcript | ENST00000286494.9 | protein_coding | 1/15 | 465/2554 | 5/1743 | 2/580 | chr12 | TogoVar | ||
ARHGEF25_chr12_57606435_57622245 | 57612996 | C | G | missense_variant | MODERATE | HG02622.hp1 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0002 | 1 | 424 | 0.0024 | 0 | c.164 others(3): Show |
p.Pro others(5): Show |
ARHGEF25 | ENSG00000240771.8 | transcript | ENST00000286494.9 | protein_coding | 2/15 | 624/2554 | 164/1743 | 55/580 | chr12 | TogoVar | ||
ARHGEF25_chr12_57606435_57622245 | 57616349 | G | A | missense_variant | MODERATE | NA18953.hp2 NA18963.hp1 NA18985.hp2 others(2): Show |
a0005 | a0005c0007 | a0005c0007t0001a0005c0007t0010 | a0005c0007t0001g0001a0005c0007t0010g0001 | 5 | 424 | 0.0118 | 0 | c.148 others(4): Show |
p.Gly others(6): Show |
ARHGEF25 | ENSG00000240771.8 | transcript | ENST00000286494.9 | protein_coding | 14/15 | 1946/2554 | 1486/1743 | 496/580 | chr12 | TogoVar | ||
ARHGEF25_chr12_57606435_57622245 | 57616380 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(266): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(34): Show | 269 | 424 | 0.6344 | 0 | c.151 others(4): Show |
p.Gln others(6): Show |
ARHGEF25 | ENSG00000240771.8 | transcript | ENST00000286494.9 | protein_coding | 14/15 | 1977/2554 | 1517/1743 | 506/580 | chr12 | TogoVar | ||
ARHGEF26_chr3_154116390_154262825 | 154122017 | T | A | missense_variant | MODERATE | HG02602.hp2 | a0012 | a0012c0010 | a0012c0010t0002 | a0012c0010t0002g0241 | 1 | 283 | 0.0035 | 0 | c.25T others(2): Show |
p.Phe others(4): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 2/15 | 206/5149 | 25/2616 | 9/871 | chr3 | TogoVar | ||
ARHGEF26_chr3_154116390_154262825 | 154122077 | G | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0009a0001c0015others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(63): Show | a0001c0001t0001g0130a0001c0001t0001g0146a0001c0001t0001g0150others(265): Show | 272 | 283 | 0.9611 | 0 | c.85G others(2): Show |
p.Val others(5): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 2/15 | 266/5149 | 85/2616 | 29/871 | chr3 | TogoVar | ||
ARHGEF26_chr3_154116390_154262825 | 154122078 | T | G | missense_variant | MODERATE | HG01884.hp2 HG02818.hp1 |
a0007 | a0007c0006 | a0007c0006t0017 | a0007c0006t0017g0128a0007c0006t0017g0129 | 2 | 283 | 0.0071 | 0 | c.86T others(2): Show |
p.Val others(5): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 2/15 | 267/5149 | 86/2616 | 29/871 | chr3 | TogoVar | ||
ARHGEF26_chr3_154116390_154262825 | 154122158 | G | C | missense_variant | MODERATE | HG02257.hp2 | a0010 | a0010c0011 | a0010c0011t0005 | a0010c0011t0005g0017 | 1 | 283 | 0.0035 | 0 | c.166 others(3): Show |
p.Gly others(5): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 2/15 | 347/5149 | 166/2616 | 56/871 | chr3 | TogoVar | ||
ARHGEF26_chr3_154116390_154262825 | 154122170 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0004a0008others(2): Show | a0001c0001a0001c0009a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0130a0001c0001t0001g0146a0001c0001t0001g0150others(154): Show | 160 | 283 | 0.5654 | 0 | c.178 others(3): Show |
p.Leu others(5): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 2/15 | 359/5149 | 178/2616 | 60/871 | chr3 | TogoVar | ||
ARHGEF26_chr3_154116390_154262825 | 154122171 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0009a0001c0015others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(63): Show | a0001c0001t0001g0130a0001c0001t0001g0146a0001c0001t0001g0150others(265): Show | 272 | 283 | 0.9611 | 0 | c.179 others(3): Show |
p.Leu others(5): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 2/15 | 360/5149 | 179/2616 | 60/871 | chr3 | TogoVar | ||
ARHGEF26_chr3_154116390_154262825 | 154122306 | C | T | missense_variant | MODERATE | HG01516.hp1 | a0008 | a0008c0017 | a0008c0017t0002 | a0008c0017t0002g0170 | 1 | 283 | 0.0035 | 0 | c.314 others(3): Show |
p.Ser others(6): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 2/15 | 495/5149 | 314/2616 | 105/871 | chr3 | TogoVar | ||
ARHGEF26_chr3_154116390_154262825 | 154122539 | G | C | missense_variant | MODERATE | HG02055.hp1 HG02257.hp2 HG02922.hp2 |
a0006a0010 | a0006c0012a0006c0013a0010c0011 | a0006c0012t0008a0006c0013t0025a0010c0011t0005 | a0006c0012t0008g0018a0006c0013t0025g0019a0010c0011t0005g0017 | 3 | 283 | 0.0106 | 0 | c.547 others(3): Show |
p.Asp others(6): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 2/15 | 728/5149 | 547/2616 | 183/871 | chr3 | TogoVar | ||
ARHGEF26_chr3_154116390_154262825 | 154122600 | T | C | missense_variant | MODERATE | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(106): Show |
a0002a0006a0010others(1): Show | a0002c0002a0002c0003a0002c0007others(5): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0006others(29): Show | a0002c0002t0003g0022a0002c0002t0003g0023a0002c0002t0003g0024others(105): Show | 109 | 283 | 0.3852 | 0 | c.608 others(3): Show |
p.Phe others(6): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 2/15 | 789/5149 | 608/2616 | 203/871 | chr3 | TogoVar | ||
ARHGEF26_chr3_154116390_154262825 | 154191415 | G | A | missense_variant | MODERATE | HG01243.hp1 HG02630.hp1 NA20129.hp2 |
a0004 | a0004c0005 | a0004c0005t0013 | a0004c0005t0013g0136a0004c0005t0013g0158a0004c0005t0013g0159 | 3 | 283 | 0.0106 | 0 | c.176 others(4): Show |
p.Met others(6): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 8/15 | 1948/5149 | 1767/2616 | 589/871 | chr3 | TogoVar | ||
ARHGEF26_chr3_154116390_154262825 | 154254813 | G | A | missense_variant | MODERATE | HG00558.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0218 | 1 | 283 | 0.0035 | 0 | c.246 others(4): Show |
p.Arg others(6): Show |
ARHGEF26 | ENSG00000114790.13 | transcript | ENST00000465093.6 | protein_coding | 14/15 | 2643/5149 | 2462/2616 | 821/871 | chr3 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73753176 | C | G | missense_variant | MODERATE | NA19010.hp2 | a0020 | a0020c0078 | a0020c0078t0004 | a0020c0078t0004g0051 | 1 | 188 | 0.0053 | 0 | c.449 others(3): Show |
p.Thr others(6): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 4/36 | 587/6233 | 449/5118 | 150/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73776529 | T | C | missense_variant | MODERATE | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(75): Show |
a0002a0006a0007others(15): Show | a0002c0002a0002c0003a0002c0006others(28): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(47): Show | a0002c0002t0001g0003a0002c0002t0001g0096a0002c0002t0001g0130others(75): Show | 78 | 188 | 0.4149 | 0 | c.673 others(3): Show |
p.Trp others(6): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 6/36 | 811/6233 | 673/5118 | 225/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73780686 | C | A | missense_variant | MODERATE | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(121): Show |
a0002a0003a0004others(25): Show | a0002c0002a0002c0003a0002c0006others(48): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(79): Show | a0002c0002t0001g0003a0002c0002t0001g0096a0002c0002t0001g0130others(121): Show | 124 | 188 | 0.6596 | 0 | c.851 others(3): Show |
p.Pro others(6): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 7/36 | 989/6233 | 851/5118 | 284/1705 | 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 |