view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRE1_chr19_6882579_6945450 | 6904126 | C | T | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0022 others(163): Show |
169 | 336 | 0.5030 | 0 | c.893 others(3): Show |
p.Ala others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/21 | 923/3112 | 893/2661 | 298/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6908753 | C | T | missense_variant | MODERATE | NA19068.hp2 | a0064 | a0064c0049 | a0064c0049t0001 | a0064c0049t0001g0169 | 1 | 336 | 0.0030 | 0 | c.110 others(4): Show |
p.Thr others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 10/21 | 1133/3112 | 1103/2661 | 368/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6913696 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(43): Show |
a0004a0012a0014others(7): Show | a0004c0004a0012c0012a0014c0015others(7): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(13): Show | a0004c0004t0001g0003 a0004c0004t0001g0034 a0004c0004t0001g0050 others(41): Show |
46 | 336 | 0.1369 | 0 | c.116 others(4): Show |
p.Thr others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 11/21 | 1196/3112 | 1166/2661 | 389/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6913800 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(229): Show |
a0001a0002a0004others(33): Show | a0001c0001a0001c0027a0001c0042others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 others(226): Show |
232 | 336 | 0.6905 | 0 | c.127 others(4): Show |
p.Ile others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 11/21 | 1300/3112 | 1270/2661 | 424/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6916287 | G | A | missense_variant | MODERATE | HG03486.hp2 | a0056 | a0056c0051 | a0056c0051t0004 | a0056c0051t0004g0316 | 1 | 336 | 0.0030 | 0 | c.133 others(4): Show |
p.Glu others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 12/21 | 1369/3112 | 1339/2661 | 447/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6919613 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
a0001a0002a0004others(33): Show | a0001c0001a0001c0027a0001c0042others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 others(232): Show |
237 | 336 | 0.7054 | 0 | c.148 others(4): Show |
p.Lys others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/21 | 1516/3112 | 1486/2661 | 496/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6919742 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(235): Show |
a0001a0002a0004others(34): Show | a0001c0001a0001c0027a0001c0042others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 others(233): Show |
238 | 336 | 0.7083 | 0 | c.161 others(4): Show |
p.Ile others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/21 | 1645/3112 | 1615/2661 | 539/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6921857 | G | A | missense_variant | MODERATE | HG00408.hp1 HG00423.hp1 HG00733.hp2 others(73): Show |
a0003a0008a0009others(16): Show | a0003c0003a0008c0009a0009c0008others(16): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(25): Show | a0003c0003t0001g0004 a0003c0003t0001g0040 a0003c0003t0001g0045 others(72): Show |
76 | 336 | 0.2262 | 0 | c.176 others(4): Show |
p.Val others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 14/21 | 1795/3112 | 1765/2661 | 589/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6924747 | A | G | missense_variant | MODERATE | HG02559.hp2 | a0041 | a0041c0053 | a0041c0053t0007 | a0041c0053t0007g0095 | 1 | 336 | 0.0030 | 0 | c.186 others(4): Show |
p.Ile others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 15/21 | 1891/3112 | 1861/2661 | 621/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6924777 | C | G | missense_variant | MODERATE | NA19079.hp1 | a0065 | a0065c0048 | a0065c0048t0001 | a0065c0048t0001g0047 | 1 | 336 | 0.0030 | 0 | c.189 others(4): Show |
p.Arg others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 15/21 | 1921/3112 | 1891/2661 | 631/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6926367 | T | C | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(122): Show |
a0004a0006a0007others(30): Show | a0004c0004a0006c0006a0007c0007others(30): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(55): Show | a0004c0004t0001g0003 a0004c0004t0001g0034 a0004c0004t0001g0050 others(120): Show |
125 | 336 | 0.3720 | 0 | c.198 others(4): Show |
p.Met others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 16/21 | 2018/3112 | 1988/2661 | 663/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6926385 | C | T | missense_variant | MODERATE | HG01109.hp1 | a0030 | a0030c0055 | a0030c0055t0006 | a0030c0055t0006g0204 | 1 | 336 | 0.0030 | 0 | c.200 others(4): Show |
p.Ala others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 16/21 | 2036/3112 | 2006/2661 | 669/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6926549 | G | C | missense_variant | MODERATE | HG02055.hp1 HG02486.hp2 HG02622.hp2 others(5): Show |
a0015a0036a0054others(1): Show | a0015c0016a0036c0066a0054c0047others(1): Show | a0015c0016t0001a0015c0016t0006a0036c0066t0004others(2): Show | a0015c0016t0001g0126 a0015c0016t0006g0074 a0015c0016t0006g0075 others(5): Show |
8 | 336 | 0.0238 | 0 | c.217 others(4): Show |
p.Val others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 16/21 | 2200/3112 | 2170/2661 | 724/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6937548 | G | A | missense_variant | MODERATE | HG01255.hp2 | a0032 | a0032c0044 | a0032c0044t0002 | a0032c0044t0002g0232 | 1 | 336 | 0.0030 | 0 | c.255 others(4): Show |
p.Arg others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 20/21 | 2585/3112 | 2555/2661 | 852/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6937556 | T | A | missense_variant | MODERATE | HG01255.hp2 | a0032 | a0032c0044 | a0032c0044t0002 | a0032c0044t0002g0232 | 1 | 336 | 0.0030 | 0 | c.256 others(4): Show |
p.Tyr others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 20/21 | 2593/3112 | 2563/2661 | 855/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6937614 | T | C | missense_variant | MODERATE | HG01099.hp2 | a0029 | a0029c0038 | a0029c0038t0001 | a0029c0038t0001g0148 | 1 | 336 | 0.0030 | 0 | c.262 others(4): Show |
p.Ile others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 20/21 | 2651/3112 | 2621/2661 | 874/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6937631 | C | A | missense_variant | MODERATE | HG02559.hp2 HG03225.hp2 |
a0041a0053 | a0041c0053a0053c0045 | a0041c0053t0007a0053c0045t0007 | a0041c0053t0007g0095 a0053c0045t0007g0132 |
2 | 336 | 0.0060 | 0 | c.263 others(4): Show |
p.Pro others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 20/21 | 2668/3112 | 2638/2661 | 880/886 | chr19 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6937647 | C | T | missense_variant others(1): Show |
MODERATE | HG02055.hp1 HG02897.hp2 |
a0036a0047 | a0036c0066a0047c0057 | a0036c0066t0004a0047c0057t0004 | a0036c0066t0004g0081 a0047c0057t0004g0111 |
2 | 336 | 0.0060 | 0 | c.265 others(4): Show |
p.Thr others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 20/21 | 2684/3112 | 2654/2661 | 885/886 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14743526 | C | T | missense_variant | MODERATE | HG00639.hp2 HG01081.hp2 |
a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0151 a0008c0016t0001g0154 |
2 | 216 | 0.0093 | 0 | c.235 others(4): Show |
p.Arg others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 20/21 | 2832/6791 | 2357/2472 | 786/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14743767 | G | A | missense_variant | MODERATE | HG01978.hp2 | a0016 | a0016c0024 | a0016c0024t0052 | a0016c0024t0052g0187 | 1 | 216 | 0.0046 | 0 | c.220 others(4): Show |
p.Ala others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 19/21 | 2676/6791 | 2201/2472 | 734/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14743776 | G | A | missense_variant | MODERATE | HG02897.hp1 | a0020 | a0020c0044 | a0020c0044t0009 | a0020c0044t0009g0128 | 1 | 216 | 0.0046 | 0 | c.219 others(4): Show |
p.Ala others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 19/21 | 2667/6791 | 2192/2472 | 731/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14746255 | T | G | missense_variant | MODERATE | HG02109.hp2 HG02145.hp1 HG02145.hp2 others(16): Show |
a0004a0006a0010others(1): Show | a0004c0004a0006c0007a0006c0037others(3): Show | a0004c0004t0007a0004c0004t0016a0004c0004t0020others(9): Show | a0004c0004t0007g0006 a0004c0004t0007g0047 a0004c0004t0007g0054 others(16): Show |
19 | 216 | 0.0880 | 0 | c.216 others(4): Show |
p.Glu others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 18/21 | 2635/6791 | 2160/2472 | 720/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14751466 | G | A | missense_variant | MODERATE | HG02132.hp2 HG03654.hp2 HG03669.hp1 others(5): Show |
a0005a0026 | a0005c0006a0005c0020a0005c0041others(1): Show | a0005c0006t0015a0005c0006t0018a0005c0020t0018others(3): Show | a0005c0006t0015g0083 a0005c0006t0015g0084 a0005c0006t0015g0090 others(5): Show |
8 | 216 | 0.0370 | 0 | c.199 others(4): Show |
p.Ser others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 16/21 | 2469/6791 | 1994/2472 | 665/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14751574 | C | T | missense_variant | MODERATE | HG02723.hp1 HG02922.hp1 |
a0013 | a0013c0018 | a0013c0018t0001a0013c0018t0041 | a0013c0018t0001g0213 a0013c0018t0041g0102 |
2 | 216 | 0.0093 | 0 | c.188 others(4): Show |
p.Arg others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 16/21 | 2361/6791 | 1886/2472 | 629/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14751618 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show |
a0001a0002a0004others(21): Show | a0001c0001a0001c0009a0001c0010others(36): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(78): Show | a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 others(170): Show |
175 | 216 | 0.8102 | 0 | c.184 others(4): Show |
p.Leu others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 16/21 | 2317/6791 | 1842/2472 | 614/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14751646 | G | A | missense_variant | MODERATE | HG02145.hp1 HG02145.hp2 HG02451.hp2 others(6): Show |
a0006a0010a0012 | a0006c0007a0006c0037a0010c0015others(2): Show | a0006c0007t0007a0006c0037t0020a0010c0015t0043others(3): Show | a0006c0007t0007g0048 a0006c0007t0007g0049 a0006c0007t0007g0051 others(6): Show |
9 | 216 | 0.0417 | 0 | c.181 others(4): Show |
p.Thr others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 16/21 | 2289/6791 | 1814/2472 | 605/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14752493 | T | C | missense_variant | MODERATE | HG02055.hp2 HG02280.hp1 HG02615.hp1 others(3): Show |
a0007a0011 | a0007c0008a0007c0026a0011c0019 | a0007c0008t0024a0007c0008t0037a0007c0026t0050others(1): Show | a0007c0008t0024g0056 a0007c0008t0024g0059 a0007c0008t0037g0110 others(3): Show |
6 | 216 | 0.0278 | 0 | c.162 others(4): Show |
p.Met others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 15/21 | 2099/6791 | 1624/2472 | 542/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14754990 | G | C | missense_variant | MODERATE | HG02109.hp1 HG03540.hp2 |
a0018a0024 | a0018c0027a0024c0039 | a0018c0027t0033a0024c0039t0014 | a0018c0027t0033g0060 a0024c0039t0014g0061 |
2 | 216 | 0.0093 | 0 | c.155 others(4): Show |
p.Ser others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 14/21 | 2029/6791 | 1554/2472 | 518/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14764576 | G | A | missense_variant | MODERATE | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(39): Show |
a0003a0019a0022others(1): Show | a0003c0003a0003c0014a0019c0035others(2): Show | a0003c0003t0002a0003c0003t0005a0003c0003t0011others(6): Show | a0003c0003t0002g0003 a0003c0003t0002g0013 a0003c0003t0002g0014 others(39): Show |
42 | 215 | 0.1953 | 0 | c.941 others(3): Show |
p.Ala others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/21 | 1416/6791 | 941/2472 | 314/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14765383 | G | T | missense_variant | MODERATE | HG02145.hp2 HG02809.hp1 HG02976.hp1 others(2): Show |
a0006 | a0006c0007a0006c0037 | a0006c0007t0007a0006c0037t0020 | a0006c0007t0007g0048 a0006c0007t0007g0049 a0006c0007t0007g0051 others(2): Show |
5 | 216 | 0.0231 | 0 | c.843 others(3): Show |
p.Phe others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 10/21 | 1318/6791 | 843/2472 | 281/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14765568 | T | A | missense_variant others(1): Show |
MODERATE | HG00733.hp2 | a0015 | a0015c0028 | a0015c0028t0001 | a0015c0028t0001g0149 | 1 | 216 | 0.0046 | 0 | c.784 others(3): Show |
p.Met others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 9/21 | 1259/6791 | 784/2472 | 262/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14765717 | C | G | missense_variant | MODERATE | HG01243.hp2 | a0009 | a0009c0040 | a0009c0040t0010 | a0009c0040t0010g0085 | 1 | 213 | 0.0047 | 0 | c.722 others(3): Show |
p.Arg others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 8/21 | 1197/6791 | 722/2472 | 241/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14765717 | C | T | missense_variant | MODERATE | NA18906.hp2 | a0009 | a0009c0036 | a0009c0036t0038 | a0009c0036t0038g0092 | 1 | 213 | 0.0047 | 0 | c.722 others(3): Show |
p.Arg others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 8/21 | 1197/6791 | 722/2472 | 241/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14765718 | G | C | missense_variant | MODERATE | HG01243.hp2 | a0009 | a0009c0040 | a0009c0040t0010 | a0009c0040t0010g0085 | 1 | 216 | 0.0046 | 0 | c.721 others(3): Show |
p.Arg others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 8/21 | 1196/6791 | 721/2472 | 241/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14765733 | A | G | missense_variant | MODERATE | HG03831.hp2 | a0025 | a0025c0043 | a0025c0043t0028 | a0025c0043t0028g0125 | 1 | 216 | 0.0046 | 0 | c.706 others(3): Show |
p.Tyr others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 8/21 | 1181/6791 | 706/2472 | 236/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14765757 | C | T | missense_variant | MODERATE | HG03041.hp2 | a0022 | a0022c0033 | a0022c0033t0002 | a0022c0033t0002g0036 | 1 | 216 | 0.0046 | 0 | c.682 others(3): Show |
p.Val others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 8/21 | 1157/6791 | 682/2472 | 228/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14766306 | T | C | missense_variant | MODERATE | NA18984.hp1 | a0027 | a0027c0030 | a0027c0030t0004 | a0027c0030t0004g0210 | 1 | 216 | 0.0046 | 0 | c.563 others(3): Show |
p.Gln others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 7/21 | 1038/6791 | 563/2472 | 188/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14766336 | G | T | missense_variant | MODERATE | HG02257.hp1 HG02717.hp1 HG03041.hp2 others(1): Show |
a0012a0019a0022 | a0012c0034a0012c0042a0019c0035others(1): Show | a0012c0034t0035a0012c0042t0031a0019c0035t0002others(1): Show | a0012c0034t0035g0067 a0012c0042t0031g0039 a0019c0035t0002g0007 others(1): Show |
4 | 216 | 0.0185 | 0 | c.533 others(3): Show |
p.Thr others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 7/21 | 1008/6791 | 533/2472 | 178/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14766361 | C | T | missense_variant | MODERATE | HG03195.hp2 | a0023 | a0023c0022 | a0023c0022t0001 | a0023c0022t0001g0119 | 1 | 216 | 0.0046 | 0 | c.508 others(3): Show |
p.Gly others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 7/21 | 983/6791 | 508/2472 | 170/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14766987 | G | C | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(118): Show |
a0002a0003a0004others(10): Show | a0002c0002a0002c0005a0002c0013others(19): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0006others(50): Show | a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 others(117): Show |
121 | 216 | 0.5602 | 0 | c.478 others(3): Show |
p.Leu others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 6/21 | 953/6791 | 478/2472 | 160/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14767004 | T | A | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(118): Show |
a0002a0003a0004others(10): Show | a0002c0002a0002c0005a0002c0013others(19): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0006others(50): Show | a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 others(117): Show |
121 | 216 | 0.5602 | 0 | c.461 others(3): Show |
p.Lys others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 6/21 | 936/6791 | 461/2472 | 154/823 | chr19 | TogoVar | |||
ADGRE2_chr19_14727392_14783560 | 14767008 | G | A | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(118): Show |
a0002a0003a0004others(10): Show | a0002c0002a0002c0005a0002c0013others(19): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0006others(50): Show | a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 others(117): Show |
121 | 216 | 0.5602 | 0 | c.457 others(3): Show |
p.Leu others(6): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 6/21 | 932/6791 | 457/2472 | 153/823 | chr19 | TogoVar | |||
ADGRE3_chr19_14614117_14679844 | 14625514 | C | T | missense_variant | MODERATE | HG00280.hp2 HG01346.hp2 |
a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0277 a0009c0014t0002g0280 |
2 | 370 | 0.0054 | 0 | c.189 others(4): Show |
p.Gly others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 15/16 | 1972/2349 | 1898/1959 | 633/652 | chr19 | TogoVar | |||
ADGRE3_chr19_14614117_14679844 | 14630130 | G | A | missense_variant | MODERATE | HG02280.hp1 HG02559.hp1 HG02559.hp2 others(4): Show |
a0007a0015 | a0007c0010a0007c0012a0015c0024 | a0007c0010t0001a0007c0010t0002a0007c0012t0001others(1): Show | a0007c0010t0001g0225 a0007c0010t0001g0227 a0007c0010t0001g0228 others(4): Show |
7 | 370 | 0.0189 | 0 | c.172 others(4): Show |
p.Pro others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 14/16 | 1795/2349 | 1721/1959 | 574/652 | chr19 | TogoVar | |||
ADGRE3_chr19_14614117_14679844 | 14632996 | A | C | missense_variant | MODERATE | HG03486.hp1 | a0020 | a0020c0022 | a0020c0022t0001 | a0020c0022t0001g0341 | 1 | 370 | 0.0027 | 0 | c.156 others(4): Show |
p.Phe others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 13/16 | 1642/2349 | 1568/1959 | 523/652 | chr19 | TogoVar | |||
ADGRE3_chr19_14614117_14679844 | 14638124 | G | A | missense_variant | MODERATE | NA18957.hp2 | a0022 | a0022c0017 | a0022c0017t0001 | a0022c0017t0001g0193 | 1 | 370 | 0.0027 | 0 | c.146 others(4): Show |
p.Leu others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/16 | 1539/2349 | 1465/1959 | 489/652 | chr19 | TogoVar | |||
ADGRE3_chr19_14614117_14679844 | 14638163 | C | T | missense_variant | MODERATE | HG02895.hp1 HG02897.hp2 HG03540.hp2 |
a0012a0021 | a0012c0013a0021c0021 | a0012c0013t0001a0021c0021t0001 | a0012c0013t0001g0018 a0012c0013t0001g0019 a0021c0021t0001g0038 |
3 | 370 | 0.0081 | 0 | c.142 others(4): Show |
p.Ala others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/16 | 1500/2349 | 1426/1959 | 476/652 | chr19 | TogoVar | |||
ADGRE3_chr19_14614117_14679844 | 14638237 | A | G | missense_variant | MODERATE | HG02976.hp1 | a0016 | a0016c0028 | a0016c0028t0002 | a0016c0028t0002g0016 | 1 | 370 | 0.0027 | 0 | c.135 others(4): Show |
p.Leu others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/16 | 1426/2349 | 1352/1959 | 451/652 | chr19 | TogoVar | |||
ADGRE3_chr19_14614117_14679844 | 14638319 | C | T | missense_variant | MODERATE | HG00673.hp1 HG02015.hp2 HG02132.hp1 others(6): Show |
a0006a0011 | a0006c0008a0011c0011 | a0006c0008t0001a0011c0011t0001 | a0006c0008t0001g0042 a0006c0008t0001g0045 a0006c0008t0001g0047 others(6): Show |
9 | 370 | 0.0243 | 0 | c.127 others(4): Show |
p.Gly others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/16 | 1344/2349 | 1270/1959 | 424/652 | chr19 | TogoVar | |||
ADGRE3_chr19_14614117_14679844 | 14641432 | C | T | missense_variant | MODERATE | HG03471.hp1 | a0018 | a0018c0020 | a0018c0020t0002 | a0018c0020t0002g0286 | 1 | 370 | 0.0027 | 0 | c.123 others(4): Show |
p.Arg others(6): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 10/16 | 1309/2349 | 1235/1959 | 412/652 | chr19 | TogoVar |