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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRD2_chr9_124445451_124483580 | 124455123 | G | T | missense_variant | MODERATE | HG03017.hp2 NA20905.hp2 |
a0032a0063 | a0032c0059a0063c0041 | a0032c0059t0001a0063c0041t0001 | a0032c0059t0001g0148a0063c0041t0001g0163 | 2 | 404 | 0.0050 | 0 | c.142 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 9/25 | 1669/3515 | 1421/2949 | 474/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124456707 | G | A | missense_variant | MODERATE | HG01099.hp2 HG02257.hp1 HG02922.hp1 |
a0027a0034a0061 | a0027c0047a0034c0088a0061c0068 | a0027c0047t0002a0034c0088t0001a0061c0068t0002 | a0027c0047t0002g0160a0034c0088t0001g0219a0061c0068t0002g0161 | 3 | 404 | 0.0074 | 0 | c.151 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 10/25 | 1759/3515 | 1511/2949 | 504/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124456713 | G | A | missense_variant | MODERATE | HG02572.hp1 | a0045 | a0045c0079 | a0045c0079t0002 | a0045c0079t0002g0134 | 1 | 404 | 0.0025 | 0 | c.151 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 10/25 | 1765/3515 | 1517/2949 | 506/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124458113 | G | C | missense_variant others(1): Show |
MODERATE | HG00544.hp2 HG00609.hp1 HG00639.hp1 others(57): Show |
a0004a0008a0012others(14): Show | a0004c0004a0004c0037a0004c0103others(18): Show | a0004c0004t0001a0004c0004t0002a0004c0037t0001others(21): Show | a0004c0004t0001g0015a0004c0004t0001g0144a0004c0004t0001g0215others(44): Show | 60 | 404 | 0.1485 | 0 | c.167 others(4): Show |
p.Gly others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 12/25 | 1921/3515 | 1673/2949 | 558/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124458236 | G | A | missense_variant others(1): Show |
MODERATE | HG01099.hp2 HG02257.hp1 HG02922.hp1 |
a0027a0034a0061 | a0027c0047a0034c0088a0061c0068 | a0027c0047t0002a0034c0088t0001a0061c0068t0002 | a0027c0047t0002g0160a0034c0088t0001g0219a0061c0068t0002g0161 | 3 | 404 | 0.0074 | 0 | c.179 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 12/25 | 2044/3515 | 1796/2949 | 599/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124458627 | C | T | missense_variant | MODERATE | HG01256.hp2 HG01258.hp1 HG02004.hp2 |
a0017 | a0017c0025 | a0017c0025t0001 | a0017c0025t0001g0048a0017c0025t0001g0296 | 3 | 404 | 0.0074 | 0 | c.180 others(4): Show |
p.Thr others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 13/25 | 2056/3515 | 1808/2949 | 603/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124458659 | G | C | missense_variant | MODERATE | HG00609.hp1 HG01123.hp2 HG01255.hp1 others(47): Show |
a0004a0008a0024others(7): Show | a0004c0004a0004c0037a0004c0103others(9): Show | a0004c0004t0001a0004c0004t0002a0004c0037t0001others(11): Show | a0004c0004t0001g0015a0004c0004t0001g0144a0004c0004t0001g0215others(35): Show | 50 | 404 | 0.1238 | 0 | c.184 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 13/25 | 2088/3515 | 1840/2949 | 614/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124468105 | G | A | missense_variant | MODERATE | NA18522.hp2 | a0049 | a0049c0066 | a0049c0066t0002 | a0049c0066t0002g0085 | 1 | 404 | 0.0025 | 0 | c.218 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 16/25 | 2428/3515 | 2180/2949 | 727/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124468534 | G | A | missense_variant | MODERATE | HG00597.hp2 HG02015.hp1 HG02027.hp2 others(16): Show |
a0013a0015a0021others(8): Show | a0013c0022a0013c0035a0015c0019others(10): Show | a0013c0022t0001a0013c0022t0002a0013c0035t0001others(12): Show | a0013c0022t0001g0153a0013c0022t0001g0154a0013c0022t0002g0112others(15): Show | 19 | 404 | 0.0470 | 0 | c.228 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 17/25 | 2529/3515 | 2281/2949 | 761/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124468548 | G | A | missense_variant | MODERATE | HG01243.hp2 HG01891.hp1 HG02723.hp2 |
a0025a0029 | a0025c0095a0025c0097a0029c0060 | a0025c0095t0003a0025c0097t0001a0029c0060t0002 | a0025c0095t0003g0059a0025c0097t0001g0233a0029c0060t0002g0198 | 3 | 404 | 0.0074 | 0 | c.229 others(4): Show |
p.Met others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 17/25 | 2543/3515 | 2295/2949 | 765/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124468585 | G | A | missense_variant | MODERATE | HG02258.hp2 HG02630.hp1 HG02809.hp1 others(9): Show |
a0014a0030a0049others(5): Show | a0014c0020a0014c0033a0030c0049others(6): Show | a0014c0020t0002a0014c0020t0003a0014c0033t0002others(7): Show | a0014c0020t0002g0224a0014c0020t0003g0054a0014c0020t0003g0060others(9): Show | 12 | 404 | 0.0297 | 0 | c.233 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 17/25 | 2580/3515 | 2332/2949 | 778/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124468603 | T | C | missense_variant | MODERATE | HG02615.hp1 | a0039 | a0039c0101 | a0039c0101t0002 | a0039c0101t0002g0251 | 1 | 404 | 0.0025 | 0 | c.235 others(4): Show |
p.Trp others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 17/25 | 2598/3515 | 2350/2949 | 784/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124468612 | G | A | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(227): Show |
a0001a0004a0005others(18): Show | a0001c0001a0001c0005a0001c0014others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(190): Show | 230 | 404 | 0.5693 | 0 | c.235 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 17/25 | 2607/3515 | 2359/2949 | 787/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124469224 | G | A | missense_variant others(1): Show |
MODERATE | HG00597.hp2 HG02015.hp1 HG03669.hp1 others(13): Show |
a0013a0015a0021others(5): Show | a0013c0022a0013c0035a0015c0019others(7): Show | a0013c0022t0001a0013c0022t0002a0013c0035t0001others(9): Show | a0013c0022t0001g0153a0013c0022t0001g0154a0013c0022t0002g0112others(12): Show | 16 | 404 | 0.0396 | 0 | c.242 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 18/25 | 2670/3515 | 2422/2949 | 808/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124469275 | G | A | missense_variant | MODERATE | HG02258.hp2 HG02809.hp1 HG02886.hp1 others(9): Show |
a0014a0030a0049others(5): Show | a0014c0020a0014c0033a0030c0049others(6): Show | a0014c0020t0002a0014c0020t0003a0014c0033t0002others(7): Show | a0014c0020t0002g0224a0014c0020t0003g0054a0014c0020t0003g0060others(9): Show | 12 | 404 | 0.0297 | 0 | c.247 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 18/25 | 2721/3515 | 2473/2949 | 825/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124469300 | A | G | missense_variant | MODERATE | HG01099.hp2 HG02109.hp1 HG02257.hp1 others(5): Show |
a0011a0027a0043others(1): Show | a0011c0015a0027c0047a0043c0094others(1): Show | a0011c0015t0001a0011c0015t0002a0027c0047t0002others(2): Show | a0011c0015t0001g0001a0011c0015t0001g0266a0011c0015t0001g0289others(5): Show | 8 | 404 | 0.0198 | 0 | c.249 others(4): Show |
p.Asn others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 18/25 | 2746/3515 | 2498/2949 | 833/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124469332 | G | A | missense_variant | MODERATE | HG01243.hp2 HG01884.hp1 HG01891.hp1 others(14): Show |
a0014a0025a0029others(9): Show | a0014c0020a0014c0033a0025c0095others(11): Show | a0014c0020t0002a0014c0020t0003a0014c0033t0002others(12): Show | a0014c0020t0002g0224a0014c0020t0003g0054a0014c0020t0003g0060others(14): Show | 17 | 404 | 0.0421 | 0 | c.253 others(4): Show |
p.Gly others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 18/25 | 2778/3515 | 2530/2949 | 844/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124469335 | C | T | missense_variant | MODERATE | NA19082.hp1 | a0048 | a0048c0082 | a0048c0082t0002 | a0048c0082t0002g0024 | 1 | 404 | 0.0025 | 0 | c.253 others(4): Show |
p.Pro others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 18/25 | 2781/3515 | 2533/2949 | 845/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124469484 | G | A | missense_variant | MODERATE | HG01884.hp1 HG02258.hp2 HG02630.hp1 others(9): Show |
a0014a0030a0049others(5): Show | a0014c0020a0014c0033a0030c0049others(6): Show | a0014c0020t0002a0014c0020t0003a0014c0033t0002others(7): Show | a0014c0020t0002g0224a0014c0020t0003g0054a0014c0020t0003g0060others(9): Show | 12 | 404 | 0.0297 | 0 | c.260 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 19/25 | 2854/3515 | 2606/2949 | 869/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124469486 | C | T | missense_variant | MODERATE | HG02258.hp2 HG02630.hp1 HG02809.hp1 others(8): Show |
a0014a0030a0049others(4): Show | a0014c0020a0014c0033a0030c0049others(5): Show | a0014c0020t0002a0014c0020t0003a0014c0033t0002others(6): Show | a0014c0020t0002g0224a0014c0020t0003g0054a0014c0020t0003g0060others(8): Show | 11 | 404 | 0.0272 | 0 | c.260 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 19/25 | 2856/3515 | 2608/2949 | 870/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124469495 | C | G | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(261): Show |
a0001a0004a0005others(33): Show | a0001c0001a0001c0005a0001c0014others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(220): Show | 264 | 404 | 0.6535 | 0 | c.261 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 19/25 | 2865/3515 | 2617/2949 | 873/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124469516 | T | G | missense_variant | MODERATE | HG01255.hp2 | a0041 | a0041c0098 | a0041c0098t0001 | a0041c0098t0001g0001 | 1 | 404 | 0.0025 | 0 | c.263 others(4): Show |
p.Cys others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 19/25 | 2886/3515 | 2638/2949 | 880/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124470576 | G | A | missense_variant | MODERATE | NA19087.hp1 | a0040 | a0040c0099 | a0040c0099t0001 | a0040c0099t0001g0001 | 1 | 404 | 0.0025 | 0 | c.275 others(4): Show |
p.Ala others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 20/25 | 3000/3515 | 2752/2949 | 918/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124470594 | G | A | missense_variant | MODERATE | HG00639.hp1 HG01884.hp1 HG03225.hp1 |
a0037a0052a0056 | a0037c0046a0052c0069a0056c0044 | a0037c0046t0001a0052c0069t0002a0056c0044t0002 | a0037c0046t0001g0210a0052c0069t0002g0214a0056c0044t0002g0135 | 3 | 404 | 0.0074 | 0 | c.277 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 20/25 | 3018/3515 | 2770/2949 | 924/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124475450 | T | C | missense_variant | MODERATE | NA19030.hp2 | a0059 | a0059c0072 | a0059c0072t0002 | a0059c0072t0002g0211 | 1 | 404 | 0.0025 | 0 | c.279 others(4): Show |
p.Leu others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 21/25 | 3043/3515 | 2795/2949 | 932/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124476406 | G | A | missense_variant | MODERATE | HG01167.hp2 HG01169.hp2 |
a0023 | a0023c0029 | a0023c0029t0001 | a0023c0029t0001g0002 | 2 | 404 | 0.0050 | 0 | c.292 others(4): Show |
p.Arg others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 23/25 | 3175/3515 | 2927/2949 | 976/982 | chr9 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6887613 | G | T | missense_variant | MODERATE | HG02055.hp1 HG02809.hp1 HG02886.hp2 others(2): Show |
a0028a0029a0030others(2): Show | a0028c0066a0029c0067a0030c0068others(2): Show | a0028c0066t0004a0029c0067t0002a0030c0068t0001others(2): Show | a0028c0066t0004g0080a0029c0067t0002g0152a0030c0068t0001g0093others(2): Show | 5 | 338 | 0.0148 | 0 | c.5G> others(1): Show |
p.Arg others(4): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 1/21 | 35/3112 | 5/2661 | 2/886 | chr19 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6887623 | C | A | missense_variant | MODERATE | HG01516.hp1 | a0033 | a0033c0029 | a0033c0029t0002 | a0033c0029t0002g0231 | 1 | 338 | 0.0030 | 0 | c.15C others(2): Show |
p.Asn others(4): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 1/21 | 45/3112 | 15/2661 | 5/886 | chr19 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6896472 | G | A | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(106): Show |
a0002a0004a0006others(15): Show | a0002c0002a0004c0004a0006c0006others(15): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(31): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(106): Show | 109 | 338 | 0.3225 | 0 | c.169 others(3): Show |
p.Ala others(5): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 3/21 | 199/3112 | 169/2661 | 57/886 | chr19 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6897271 | G | A | missense_variant | MODERATE | HG02258.hp2 HG02280.hp2 HG02615.hp1 others(3): Show |
a0023a0034a0035others(2): Show | a0023c0026a0034c0039a0035c0040others(2): Show | a0023c0026t0001a0034c0039t0006a0035c0040t0004others(2): Show | a0023c0026t0001g0129a0023c0026t0001g0130a0034c0039t0006g0321others(3): Show | 6 | 338 | 0.0178 | 0 | c.361 others(3): Show |
p.Val others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 4/21 | 391/3112 | 361/2661 | 121/886 | chr19 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6897453 | C | G | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(188): Show |
a0002a0004a0005others(42): Show | a0002c0002a0004c0004a0005c0005others(42): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(71): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(186): Show | 191 | 338 | 0.5651 | 0 | c.420 others(3): Show |
p.Ser others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/21 | 450/3112 | 420/2661 | 140/886 | chr19 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6901880 | G | A | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | c.520 others(3): Show |
p.Asp others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/21 | 550/3112 | 520/2661 | 174/886 | chr19 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6901961 | C | T | missense_variant | MODERATE | HG02976.hp1 | a0049 | a0049c0059 | a0049c0059t0001 | a0049c0059t0001g0330 | 1 | 338 | 0.0030 | 0 | c.601 others(3): Show |
p.Pro others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/21 | 631/3112 | 601/2661 | 201/886 | chr19 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6903909 | A | G | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | c.761 others(3): Show |
p.Asn others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 7/21 | 791/3112 | 761/2661 | 254/886 | chr19 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6904119 | T | A | missense_variant | MODERATE | NA18987.hp1 | a0057 | a0057c0041 | a0057c0041t0002 | a0057c0041t0002g0230 | 1 | 338 | 0.0030 | 0 | c.886 others(3): Show |
p.Cys others(6): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/21 | 916/3112 | 886/2661 | 296/886 | chr19 | TogoVar | ||
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 | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 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 | a0050 | a0050c0049 | a0050c0049t0001 | a0050c0049t0001g0170 | 1 | 338 | 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 |
a0004a0010a0015others(7): Show | a0004c0004a0010c0012a0015c0015others(7): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(13): Show | a0004c0004t0001g0033a0004c0004t0001g0049a0004c0004t0001g0066others(42): Show | 46 | 338 | 0.1361 | 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(230): Show |
a0001a0002a0004others(33): Show | a0001c0001a0001c0027a0001c0042others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(228): Show | 233 | 338 | 0.6894 | 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 | a0048 | a0048c0051 | a0048c0051t0004 | a0048c0051t0004g0316 | 1 | 338 | 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(235): Show |
a0001a0002a0004others(33): Show | a0001c0001a0001c0027a0001c0042others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(234): Show | 238 | 338 | 0.7041 | 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(236): Show |
a0001a0002a0004others(34): Show | a0001c0001a0001c0027a0001c0042others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(235): Show | 239 | 338 | 0.7071 | 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 | a0003c0003t0001g0003a0003c0003t0001g0039a0003c0003t0001g0044others(72): Show | 76 | 338 | 0.2249 | 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 | a0045 | a0045c0053 | a0045c0053t0007 | a0045c0053t0007g0094 | 1 | 338 | 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 | a0056 | a0056c0048 | a0056c0048t0001 | a0056c0048t0001g0046 | 1 | 338 | 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 | a0004c0004t0001g0033a0004c0004t0001g0049a0004c0004t0001g0066others(121): Show | 125 | 338 | 0.3698 | 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 | a0047 | a0047c0055 | a0047c0055t0006 | a0047c0055t0006g0205 | 1 | 338 | 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 |
a0014a0028a0048others(1): Show | a0014c0016a0028c0066a0048c0051others(1): Show | a0014c0016t0001a0014c0016t0006a0028c0066t0004others(2): Show | a0014c0016t0001g0125a0014c0016t0006g0073a0014c0016t0006g0074others(5): Show | 8 | 338 | 0.0237 | 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 | a0051 | a0051c0044 | a0051c0044t0002 | a0051c0044t0002g0233 | 1 | 338 | 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 | a0051 | a0051c0044 | a0051c0044t0002 | a0051c0044t0002g0233 | 1 | 338 | 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 |