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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRA3_chr4_22382376_22521066 | 22515724 | G | C | missense_variant | MODERATE | NA18522.hp1 | a0019 | a0019c0039 | a0019c0039t0009 | a0019c0039t0009g0288 | 1 | 290 | 0.0035 | 0 | c.61C others(2): Show |
p.Leu others(5): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 1/19 | 343/4577 | 61/3966 | 21/1321 | chr4 | TogoVar | ||
ADGRA3_chr4_22382376_22521066 | 22515732 | G | C | missense_variant | MODERATE | HG00140.hp2 HG01109.hp2 HG03491.hp2 others(3): Show |
a0008a0010a0020 | a0008c0020a0008c0040a0010c0019others(1): Show | a0008c0020t0001a0008c0040t0001a0010c0019t0001others(1): Show | a0008c0020t0001g0280a0008c0020t0001g0283a0008c0040t0001g0278others(3): Show | 6 | 290 | 0.0207 | 0 | c.53C others(2): Show |
p.Pro others(5): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 1/19 | 335/4577 | 53/3966 | 18/1321 | chr4 | TogoVar | ||
ADGRB1_chr8_142444649_142550007 | 142464283 | C | T | missense_variant | MODERATE | HG04184.hp1 | a0013 | a0013c0040 | a0013c0040t0001 | a0013c0040t0001g0266 | 1 | 310 | 0.0032 | 0 | c.85C others(2): Show |
p.Arg others(5): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 2/31 | 760/6020 | 85/4755 | 29/1584 | chr8 | TogoVar | ||
ADGRB1_chr8_142444649_142550007 | 142464448 | A | G | missense_variant | MODERATE | HG03471.hp2 | a0012 | a0012c0039 | a0012c0039t0003 | a0012c0039t0003g0237 | 1 | 310 | 0.0032 | 0 | c.250 others(3): Show |
p.Met others(5): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 2/31 | 925/6020 | 250/4755 | 84/1584 | chr8 | TogoVar | ||
ADGRB1_chr8_142444649_142550007 | 142464556 | T | A | missense_variant | MODERATE | HG01169.hp2 | a0011 | a0011c0041 | a0011c0041t0002 | a0011c0041t0002g0090 | 1 | 310 | 0.0032 | 0 | c.358 others(3): Show |
p.Phe others(6): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 2/31 | 1033/6020 | 358/4755 | 120/1584 | chr8 | TogoVar | ||
ADGRB1_chr8_142444649_142550007 | 142464674 | G | C | missense_variant | MODERATE | HG00423.hp2 HG00673.hp1 HG02015.hp1 others(7): Show |
a0002 | a0002c0005a0002c0019a0002c0020 | a0002c0005t0001a0002c0005t0002a0002c0005t0005others(2): Show | a0002c0005t0001g0016a0002c0005t0001g0018a0002c0005t0001g0021others(7): Show | 10 | 310 | 0.0323 | 0 | c.476 others(3): Show |
p.Arg others(6): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 2/31 | 1151/6020 | 476/4755 | 159/1584 | chr8 | TogoVar | ||
ADGRB1_chr8_142444649_142550007 | 142464794 | G | A | missense_variant | MODERATE | HG02056.hp2 | a0005 | a0005c0021 | a0005c0021t0002 | a0005c0021t0002g0102 | 1 | 310 | 0.0032 | 0 | c.596 others(3): Show |
p.Gly others(6): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 2/31 | 1271/6020 | 596/4755 | 199/1584 | chr8 | TogoVar | ||
ADGRB1_chr8_142444649_142550007 | 142476597 | C | T | missense_variant | MODERATE | NA19002.hp2 | a0007 | a0007c0038 | a0007c0038t0002 | a0007c0038t0002g0056 | 1 | 310 | 0.0032 | 0 | c.959 others(3): Show |
p.Thr others(6): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 4/31 | 1634/6020 | 959/4755 | 320/1584 | chr8 | TogoVar | ||
ADGRB1_chr8_142444649_142550007 | 142476639 | G | A | missense_variant | MODERATE | HG00544.hp2 HG02015.hp2 |
a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0108a0004c0012t0001g0114 | 2 | 310 | 0.0065 | 0 | c.100 others(4): Show |
p.Arg others(6): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 4/31 | 1676/6020 | 1001/4755 | 334/1584 | chr8 | TogoVar | ||
ADGRB1_chr8_142444649_142550007 | 142477399 | G | A | missense_variant | MODERATE | HG00140.hp1 | a0010 | a0010c0023 | a0010c0023t0001 | a0010c0023t0001g0166 | 1 | 310 | 0.0032 | 0 | c.123 others(4): Show |
p.Asp others(6): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 6/31 | 1912/6020 | 1237/4755 | 413/1584 | chr8 | TogoVar | ||
ADGRB1_chr8_142444649_142550007 | 142477493 | A | G | missense_variant | MODERATE | NA19009.hp1 | a0009 | a0009c0037 | a0009c0037t0002 | a0009c0037t0002g0271 | 1 | 310 | 0.0032 | 0 | c.133 others(4): Show |
p.Asn others(6): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 6/31 | 2006/6020 | 1331/4755 | 444/1584 | chr8 | TogoVar | ||
ADGRB1_chr8_142444649_142550007 | 142524290 | G | T | missense_variant | MODERATE | HG03654.hp1 | a0008 | a0008c0031 | a0008c0031t0002 | a0008c0031t0002g0141 | 1 | 310 | 0.0032 | 0 | c.329 others(4): Show |
p.Ala others(7): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 23/31 | 3973/6020 | 3298/4755 | 1100/1584 | chr8 | TogoVar | ||
ADGRB1_chr8_142444649_142550007 | 142543671 | C | T | missense_variant | MODERATE | HG02145.hp1 HG02257.hp2 HG02559.hp2 others(3): Show |
a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0001a0003c0009t0002g0092a0003c0009t0002g0295others(1): Show | 6 | 310 | 0.0194 | 0 | c.452 others(4): Show |
p.Ala others(7): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 30/31 | 5195/6020 | 4520/4755 | 1507/1584 | chr8 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31727448 | G | A | missense_variant | MODERATE | HG01109.hp2 HG01168.hp2 HG01261.hp1 others(5): Show |
a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0010a0003c0007t0001g0081a0003c0007t0001g0102others(3): Show | 8 | 280 | 0.0286 | 0 | c.473 others(4): Show |
p.Pro others(7): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 33/33 | 5377/5708 | 4730/4758 | 1577/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31727478 | C | T | missense_variant | MODERATE | NA19011.hp2 | a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0182 | 1 | 280 | 0.0036 | 0 | c.470 others(4): Show |
p.Arg others(7): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 33/33 | 5347/5708 | 4700/4758 | 1567/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31728035 | C | G | missense_variant | MODERATE | HG00741.hp2 | a0011 | a0011c0021 | a0011c0021t0001 | a0011c0021t0001g0070 | 1 | 280 | 0.0036 | 0 | c.456 others(4): Show |
p.Ser others(7): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 32/33 | 5209/5708 | 4562/4758 | 1521/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31728042 | C | T | missense_variant | MODERATE | HG01255.hp2 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0103 | 1 | 280 | 0.0036 | 0 | c.455 others(4): Show |
p.Glu others(7): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 32/33 | 5202/5708 | 4555/4758 | 1519/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31728047 | G | A | missense_variant | MODERATE | HG02723.hp2 | a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0110 | 1 | 280 | 0.0036 | 0 | c.455 others(4): Show |
p.Ala others(7): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 32/33 | 5197/5708 | 4550/4758 | 1517/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31728189 | G | A | missense_variant | MODERATE | HG01884.hp2 HG02258.hp2 HG02809.hp2 |
a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0039a0005c0011t0001g0197 | 3 | 280 | 0.0107 | 0 | c.450 others(4): Show |
p.Thr others(7): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 31/33 | 5155/5708 | 4508/4758 | 1503/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31731067 | C | G | missense_variant | MODERATE | HG01243.hp1 HG01884.hp1 HG02886.hp2 others(6): Show |
a0002 | a0002c0006a0002c0030 | a0002c0006t0001a0002c0030t0001 | a0002c0006t0001g0020a0002c0006t0001g0021a0002c0006t0001g0068others(4): Show | 9 | 280 | 0.0321 | 0 | c.411 others(4): Show |
p.Glu others(7): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 29/33 | 4760/5708 | 4113/4758 | 1371/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31735838 | C | T | missense_variant | MODERATE | HG01255.hp2 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0103 | 1 | 280 | 0.0036 | 0 | c.325 others(4): Show |
p.Val others(7): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 23/33 | 3903/5708 | 3256/4758 | 1086/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31738875 | G | A | missense_variant | MODERATE | HG00544.hp2 HG00597.hp2 HG02083.hp1 others(4): Show |
a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0045a0004c0008t0003g0210a0004c0008t0003g0211others(3): Show | 7 | 280 | 0.0250 | 0 | c.255 others(4): Show |
p.Pro others(6): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 16/33 | 3205/5708 | 2558/4758 | 853/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31739501 | G | C | missense_variant | MODERATE | HG03486.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0079 | 1 | 280 | 0.0036 | 0 | c.230 others(4): Show |
p.Leu others(6): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 15/33 | 2949/5708 | 2302/4758 | 768/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31739579 | T | A | missense_variant | MODERATE | NA18993.hp2 | a0008 | a0008c0026 | a0008c0026t0001 | a0008c0026t0001g0174 | 1 | 280 | 0.0036 | 0 | c.222 others(4): Show |
p.Met others(6): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 15/33 | 2871/5708 | 2224/4758 | 742/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31740014 | G | C | missense_variant | MODERATE | HG02258.hp1 | a0014 | a0014c0029 | a0014c0029t0001 | a0014c0029t0001g0140 | 1 | 280 | 0.0036 | 0 | c.207 others(4): Show |
p.His others(6): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 14/33 | 2726/5708 | 2079/4758 | 693/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31756295 | C | T | missense_variant | MODERATE | HG01175.hp2 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0199 | 1 | 280 | 0.0036 | 0 | c.542 others(3): Show |
p.Arg others(6): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 4/33 | 1189/5708 | 542/4758 | 181/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31756566 | C | T | missense_variant | MODERATE | HG01361.hp1 | a0015 | a0015c0015 | a0015c0015t0001 | a0015c0015t0001g0088 | 1 | 280 | 0.0036 | 0 | c.271 others(3): Show |
p.Ala others(5): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 4/33 | 918/5708 | 271/4758 | 91/1585 | chr1 | TogoVar | ||
ADGRB2_chr1_31722117_31769340 | 31756746 | T | C | missense_variant | MODERATE | HG02922.hp2 HG03139.hp1 |
a0006 | a0006c0014 | a0006c0014t0005 | a0006c0014t0005g0044 | 2 | 280 | 0.0071 | 0 | c.91A others(2): Show |
p.Thr others(5): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 4/33 | 738/5708 | 91/4758 | 31/1585 | chr1 | TogoVar | ||
ADGRB3_chr6_68630282_69394506 | 68639181 | A | G | missense_variant | MODERATE | HG00639.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0111 | 1 | 120 | 0.0083 | 0 | c.506 others(3): Show |
p.His others(6): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/32 | 1412/6090 | 506/4569 | 169/1522 | chr6 | TogoVar | ||
ADGRB3_chr6_68630282_69394506 | 68956792 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(105): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(105): Show | 108 | 120 | 0.9000 | 0 | c.150 others(4): Show |
p.Asn others(6): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 8/32 | 2414/6090 | 1508/4569 | 503/1522 | chr6 | TogoVar | ||
ADGRB3_chr6_68630282_69394506 | 69235033 | T | C | missense_variant others(1): Show |
MODERATE | HG03225.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0092 | 1 | 120 | 0.0083 | 0 | c.260 others(4): Show |
p.Ile others(6): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 19/32 | 3515/6090 | 2609/4569 | 870/1522 | chr6 | TogoVar | ||
ADGRD1_chr12_130948907_131146469 | 130987154 | G | A | missense_variant | MODERATE | HG00280.hp1 HG01106.hp1 HG01981.hp2 |
a0005 | a0005c0011a0005c0021 | a0005c0011t0002a0005c0011t0008a0005c0021t0021 | a0005c0011t0002g0110a0005c0011t0008g0047a0005c0021t0021g0048 | 3 | 242 | 0.0124 | 0 | c.550 others(3): Show |
p.Val others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 6/25 | 1109/5390 | 550/2625 | 184/874 | chr12 | TogoVar | ||
ADGRD1_chr12_130948907_131146469 | 130991062 | C | A | missense_variant | MODERATE | homoSapiens_chm13v2.hp1 | a0012 | a0012c0024 | a0012c0024t0002 | a0012c0024t0002g0196 | 1 | 242 | 0.0041 | 0 | c.794 others(3): Show |
p.Ser others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 7/25 | 1353/5390 | 794/2625 | 265/874 | chr12 | TogoVar | ||
ADGRD1_chr12_130948907_131146469 | 131003249 | A | G | missense_variant | MODERATE | NA20805.hp2 | a0011 | a0011c0038 | a0011c0038t0002 | a0011c0038t0002g0162 | 1 | 242 | 0.0041 | 0 | c.109 others(4): Show |
p.Asn others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 10/25 | 1650/5390 | 1091/2625 | 364/874 | chr12 | TogoVar | ||
ADGRD1_chr12_130948907_131146469 | 131006044 | C | T | missense_variant | MODERATE | HG02486.hp1 | a0006 | a0006c0037 | a0006c0037t0042 | a0006c0037t0042g0046 | 1 | 242 | 0.0041 | 0 | c.132 others(4): Show |
p.Thr others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 12/25 | 1887/5390 | 1328/2625 | 443/874 | chr12 | TogoVar | ||
ADGRD1_chr12_130948907_131146469 | 131014239 | G | A | missense_variant | MODERATE | HG02723.hp2 | a0010 | a0010c0026 | a0010c0026t0013 | a0010c0026t0013g0238 | 1 | 242 | 0.0041 | 0 | c.137 others(4): Show |
p.Ala others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/25 | 1931/5390 | 1372/2625 | 458/874 | chr12 | TogoVar | ||
ADGRD1_chr12_130948907_131146469 | 131014257 | T | G | missense_variant | MODERATE | HG02257.hp2 HG02965.hp1 HG02965.hp2 others(4): Show |
a0002 | a0002c0018a0002c0027a0002c0028others(3): Show | a0002c0018t0020a0002c0027t0001a0002c0028t0001others(3): Show | a0002c0018t0020g0123a0002c0018t0020g0124a0002c0027t0001g0179others(4): Show | 7 | 242 | 0.0289 | 0 | c.139 others(4): Show |
p.Ser others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/25 | 1949/5390 | 1390/2625 | 464/874 | chr12 | TogoVar | ||
ADGRD1_chr12_130948907_131146469 | 131076849 | G | A | missense_variant | MODERATE | HG02109.hp2 HG02258.hp1 HG02486.hp1 others(6): Show |
a0003a0006a0007 | a0003c0012a0003c0031a0003c0032others(5): Show | a0003c0012t0017a0003c0031t0003a0003c0032t0038others(5): Show | a0003c0012t0017g0017a0003c0012t0017g0158a0003c0031t0003g0089others(6): Show | 9 | 242 | 0.0372 | 0 | c.152 others(4): Show |
p.Val others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 14/25 | 2081/5390 | 1522/2625 | 508/874 | chr12 | TogoVar | ||
ADGRD1_chr12_130948907_131146469 | 131084560 | C | T | missense_variant | MODERATE | HG00639.hp2 HG01074.hp2 HG01243.hp2 others(1): Show |
a0004 | a0004c0015a0004c0016 | a0004c0015t0003a0004c0015t0005a0004c0016t0002others(1): Show | a0004c0015t0003g0052a0004c0015t0005g0086a0004c0016t0002g0065others(1): Show | 4 | 242 | 0.0165 | 0 | c.156 others(4): Show |
p.Ser others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 15/25 | 2127/5390 | 1568/2625 | 523/874 | chr12 | TogoVar | ||
ADGRD1_chr12_130948907_131146469 | 131105848 | C | T | missense_variant | MODERATE | HG03486.hp2 | a0008 | a0008c0034 | a0008c0034t0026 | a0008c0034t0026g0043 | 1 | 242 | 0.0041 | 0 | c.187 others(4): Show |
p.Arg others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 17/25 | 2429/5390 | 1870/2625 | 624/874 | chr12 | TogoVar | ||
ADGRD1_chr12_130948907_131146469 | 131136098 | G | A | missense_variant | MODERATE | HG00738.hp2 | a0009 | a0009c0035 | a0009c0035t0047 | a0009c0035t0047g0219 | 1 | 242 | 0.0041 | 0 | c.232 others(4): Show |
p.Val others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 22/25 | 2888/5390 | 2329/2625 | 777/874 | chr12 | TogoVar | ||
ADGRD1_chr12_130948907_131146469 | 131139241 | G | A | missense_variant | MODERATE | HG03225.hp1 | a0007 | a0007c0039 | a0007c0039t0001 | a0007c0039t0001g0229 | 1 | 242 | 0.0041 | 0 | c.260 others(4): Show |
p.Arg others(6): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 25/25 | 3162/5390 | 2603/2625 | 868/874 | chr12 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124452624 | T | G | missense_variant | MODERATE | NA20905.hp2 | a0063 | a0063c0041 | a0063c0041t0001 | a0063c0041t0001g0163 | 1 | 404 | 0.0025 | 0 | c.215 others(3): Show |
p.Leu others(5): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 5/25 | 463/3515 | 215/2949 | 72/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124452630 | T | A | missense_variant | MODERATE | NA19068.hp1 | a0062 | a0062c0042 | a0062c0042t0002 | a0062c0042t0002g0073 | 1 | 404 | 0.0025 | 0 | c.221 others(3): Show |
p.Leu others(5): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 5/25 | 469/3515 | 221/2949 | 74/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124453065 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(316): Show |
a0001a0003a0004others(45): Show | a0001c0001a0001c0005a0001c0014others(73): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(268): Show | 319 | 404 | 0.7896 | 0 | c.344 others(3): Show |
p.Asp others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 6/25 | 592/3515 | 344/2949 | 115/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124453151 | G | C | missense_variant | MODERATE | HG01099.hp2 | a0061 | a0061c0068 | a0061c0068t0002 | a0061c0068t0002g0161 | 1 | 404 | 0.0025 | 0 | c.430 others(3): Show |
p.Asp others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 6/25 | 678/3515 | 430/2949 | 144/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124453392 | C | A | missense_variant | MODERATE | HG02165.hp2 | a0060 | a0060c0070 | a0060c0070t0002 | a0060c0070t0002g0096 | 1 | 404 | 0.0025 | 0 | c.671 others(3): Show |
p.Ala others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 6/25 | 919/3515 | 671/2949 | 224/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124453493 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(196): Show |
a0001a0003a0011others(19): Show | a0001c0001a0001c0005a0001c0014others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(168): Show | 199 | 404 | 0.4926 | 0 | c.772 others(3): Show |
p.His others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 6/25 | 1020/3515 | 772/2949 | 258/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124453499 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(321): Show |
a0001a0003a0004others(47): Show | a0001c0001a0001c0005a0001c0014others(77): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(272): Show | 324 | 404 | 0.8020 | 0 | c.778 others(3): Show |
p.Leu others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 6/25 | 1026/3515 | 778/2949 | 260/982 | chr9 | TogoVar | ||
ADGRD2_chr9_124445451_124483580 | 124454996 | G | A | missense_variant | MODERATE | HG01099.hp2 HG02257.hp1 HG02922.hp1 |
a0027a0034a0061 | a0027c0047a0034c0088a0061c0068 | a0027c0047t0002a0034c0088t0001a0061c0068t0002 | a0027c0047t0002g0160a0034c0088t0001g0219a0061c0068t0002g0161 | 3 | 404 | 0.0074 | 0 | c.129 others(4): Show |
p.Val others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 9/25 | 1542/3515 | 1294/2949 | 432/982 | chr9 | TogoVar |