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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVR2A_chr2_147840029_147935822 | 147917349 | T | C | synonymous_variant | LOW | NA19003.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008 | 1 | 338 | 0.0030 | 0 | c.739 others(3): Show |
p.Leu others(6): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 6/11 | 863/5214 | 739/1542 | 247/513 | chr2 | TogoVar | ||
ACVR2A_chr2_147840029_147935822 | 147917393 | G | C | synonymous_variant | LOW | HG02615.hp2 NA20300.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0269a0001c0004t0005g0270 | 2 | 338 | 0.0059 | 0 | c.783 others(3): Show |
p.Val others(6): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 6/11 | 907/5214 | 783/1542 | 261/513 | chr2 | TogoVar | ||
ACVR2A_chr2_147840029_147935822 | 147926126 | A | C | synonymous_variant | LOW | NA21309.hp2 | a0001 | a0001c0008 | a0001c0008t0008 | a0001c0008t0008g0126 | 1 | 338 | 0.0030 | 0 | c.131 others(4): Show |
p.Arg others(6): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 10/11 | 1436/5214 | 1312/1542 | 438/513 | chr2 | TogoVar | ||
ACVR2A_chr2_147840029_147935822 | 147927253 | T | C | synonymous_variant | LOW | NA18974.hp2 | a0002 | a0002c0006 | a0002c0006t0011 | a0002c0006t0011g0086 | 1 | 338 | 0.0030 | 0 | c.152 others(4): Show |
p.Pro others(6): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 11/11 | 1645/5214 | 1521/1542 | 507/513 | chr2 | TogoVar | ||
ACVR2B_chr3_38448890_38498142 | 38477933 | A | G | synonymous_variant | LOW | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(178): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(64): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023others(110): Show | 181 | 410 | 0.4415 | 0 | c.333 others(3): Show |
p.Glu others(6): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 3/11 | 766/11782 | 333/1539 | 111/512 | chr3 | TogoVar | ||
ACVR2B_chr3_38448890_38498142 | 38481384 | C | T | synonymous_variant | LOW | HG02895.hp1 HG02897.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0063a0001c0004t0199a0001c0004t0200 | a0001c0004t0063g0025a0001c0004t0199g0064a0001c0004t0200g0060 | 4 | 410 | 0.0098 | 0 | c.993 others(3): Show |
p.Ser others(6): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 8/11 | 1426/11782 | 993/1539 | 331/512 | chr3 | TogoVar | ||
ACVR2B_chr3_38448890_38498142 | 38483251 | C | T | synonymous_variant | LOW | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(117): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(31): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023others(66): Show | 120 | 410 | 0.2927 | 0 | c.145 others(4): Show |
p.Asn others(6): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 1891/11782 | 1458/1539 | 486/512 | chr3 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51913244 | C | T | synonymous_variant | LOW | HG03834.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0135 | 1 | 438 | 0.0023 | 0 | c.207 others(3): Show |
p.Cys others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 3/10 | 404/4177 | 207/1512 | 69/503 | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51913575 | G | A | synonymous_variant | LOW | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(8): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0012a0001c0003t0001g0045a0001c0003t0001g0046others(4): Show | 11 | 438 | 0.0251 | 0 | c.330 others(3): Show |
p.Ser others(6): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 4/10 | 527/4177 | 330/1512 | 110/503 | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51913991 | C | T | synonymous_variant | LOW | HG02055.hp1 HG02280.hp1 HG02486.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0029 | 3 | 438 | 0.0069 | 0 | c.543 others(3): Show |
p.Asp others(6): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 5/10 | 740/4177 | 543/1512 | 181/503 | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51914494 | C | T | synonymous_variant | LOW | HG02451.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0076 | 1 | 438 | 0.0023 | 0 | c.681 others(3): Show |
p.Ala others(6): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 6/10 | 878/4177 | 681/1512 | 227/503 | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51914560 | G | A | synonymous_variant | LOW | HG00738.hp1 HG01256.hp2 HG01258.hp1 others(19): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0006a0001c0002t0009a0001c0002t0011others(5): Show | a0001c0002t0006g0018a0001c0002t0006g0052a0001c0002t0006g0061others(12): Show | 22 | 438 | 0.0502 | 0 | c.747 others(3): Show |
p.Val others(6): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 6/10 | 944/4177 | 747/1512 | 249/503 | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51916118 | A | G | synonymous_variant | LOW | HG02895.hp2 HG03195.hp1 HG03516.hp2 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0008a0001c0005t0022a0001c0006t0001 | a0001c0005t0008g0110a0001c0005t0022g0111a0001c0006t0001g0012 | 3 | 438 | 0.0069 | 0 | c.113 others(4): Show |
p.Ala others(6): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 8/10 | 1328/4177 | 1131/1512 | 377/503 | chr12 | TogoVar | ||
ACY1_chr3_51978535_51994197 | 51984133 | C | G | synonymous_variant | LOW | HG01106.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0002 | 1 | 338 | 0.0030 | 0 | c.69C others(2): Show |
p.Arg others(5): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 2/15 | 142/1422 | 69/1227 | 23/408 | chr3 | TogoVar | ||
ACY1_chr3_51978535_51994197 | 51984145 | C | G | synonymous_variant | LOW | HG01074.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0005 | 1 | 338 | 0.0030 | 0 | c.81C others(2): Show |
p.Pro others(5): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 2/15 | 154/1422 | 81/1227 | 27/408 | chr3 | TogoVar | ||
ACY3_chr11_67637555_67655730 | 67642757 | G | A | synonymous_variant | LOW | NA20905.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0092 | 1 | 396 | 0.0025 | 0 | c.927 others(3): Show |
p.Pro others(6): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 8/8 | 1169/1371 | 927/960 | 309/319 | chr11 | TogoVar | ||
ACY3_chr11_67637555_67655730 | 67645300 | G | C | synonymous_variant | LOW | HG00423.hp1 HG00438.hp2 HG00639.hp1 others(42): Show |
a0002a0003a0004 | a0002c0003a0003c0004a0004c0010 | a0002c0003t0002a0002c0003t0003a0003c0004t0005others(1): Show | a0002c0003t0002g0005a0002c0003t0002g0023a0002c0003t0002g0025others(17): Show | 45 | 396 | 0.1136 | 0 | c.513 others(3): Show |
p.Ala others(6): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 5/8 | 755/1371 | 513/960 | 171/319 | chr11 | TogoVar | ||
ACY3_chr11_67637555_67655730 | 67645755 | G | C | synonymous_variant | LOW | HG02738.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0073 | 1 | 396 | 0.0025 | 0 | c.369 others(3): Show |
p.Gly others(6): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 4/8 | 611/1371 | 369/960 | 123/319 | chr11 | TogoVar | ||
ACY3_chr11_67637555_67655730 | 67646909 | G | A | synonymous_variant | LOW | HG01516.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0076 | 1 | 396 | 0.0025 | 0 | c.135 others(3): Show |
p.Ser others(5): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 3/8 | 377/1371 | 135/960 | 45/319 | chr11 | TogoVar | ||
ACY3_chr11_67637555_67655730 | 67646966 | C | T | synonymous_variant | LOW | NA20300.hp2 | a0002 | a0002c0009 | a0002c0009t0004 | a0002c0009t0004g0049 | 1 | 396 | 0.0025 | 0 | c.78G others(2): Show |
p.Ser others(5): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 3/8 | 320/1371 | 78/960 | 26/319 | chr11 | TogoVar | ||
ACY3_chr11_67637555_67655730 | 67646984 | C | T | synonymous_variant | LOW | HG02615.hp2 HG02647.hp1 HG03130.hp1 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0002a0002c0005t0003 | a0002c0005t0002g0018a0002c0005t0002g0040a0002c0005t0003g0052 | 6 | 396 | 0.0152 | 0 | c.60G others(2): Show |
p.Thr others(5): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 3/8 | 302/1371 | 60/960 | 20/319 | chr11 | TogoVar | ||
ACYP2_chr2_53966113_54310300 | 53973793 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(109): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(109): Show | 112 | 272 | 0.4118 | 0 | c.45G others(2): Show |
p.Thr others(5): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/7 | 290/1262 | 45/519 | 15/172 | chr2 | TogoVar | ||
ADA2_chr22_17173790_17224435 | 17181903 | A | G | synonymous_variant | LOW | HG00140.hp1 HG00280.hp1 HG00642.hp2 others(69): Show |
a0001a0002 | a0001c0005a0001c0008a0001c0010others(4): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0004others(23): Show | a0001c0005t0001g0209a0001c0005t0002g0024a0001c0005t0002g0028others(69): Show | 72 | 408 | 0.1765 | 0 | c.135 others(4): Show |
p.Tyr others(6): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 9/10 | 1485/4355 | 1359/1536 | 453/511 | chr22 | TogoVar | ||
ADA2_chr22_17173790_17224435 | 17191781 | G | A | synonymous_variant | LOW | HG02559.hp1 HG06807.hp1 NA18522.hp2 |
a0002 | a0002c0012a0002c0017 | a0002c0012t0014a0002c0017t0014 | a0002c0012t0014g0015a0002c0012t0014g0047a0002c0017t0014g0086 | 3 | 408 | 0.0074 | 0 | c.783 others(3): Show |
p.Asp others(6): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 5/10 | 909/4355 | 783/1536 | 261/511 | chr22 | TogoVar | ||
ADA2_chr22_17173790_17224435 | 17203599 | G | A | synonymous_variant | LOW | HG03942.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0133 | 1 | 408 | 0.0025 | 0 | c.717 others(3): Show |
p.Asn others(6): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/10 | 843/4355 | 717/1536 | 239/511 | chr22 | TogoVar | ||
ADA2_chr22_17173790_17224435 | 17203656 | G | A | synonymous_variant | LOW | HG02145.hp2 HG02965.hp2 |
a0001 | a0001c0013 | a0001c0013t0001a0001c0013t0028 | a0001c0013t0001g0056a0001c0013t0028g0036 | 2 | 408 | 0.0049 | 0 | c.660 others(3): Show |
p.Tyr others(6): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/10 | 786/4355 | 660/1536 | 220/511 | chr22 | TogoVar | ||
ADA2_chr22_17173790_17224435 | 17209519 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(100): Show |
a0001a0002a0005 | a0001c0003a0001c0008a0001c0018others(4): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(35): Show | a0001c0003t0001g0095a0001c0003t0001g0109a0001c0003t0001g0134others(99): Show | 103 | 408 | 0.2525 | 0 | c.159 others(3): Show |
p.Asn others(5): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 285/4355 | 159/1536 | 53/511 | chr22 | TogoVar | ||
ADA2_chr22_17173790_17224435 | 17209540 | C | G | synonymous_variant | LOW | HG00544.hp1 HG00558.hp1 HG00621.hp1 others(76): Show |
a0001a0002a0004 | a0001c0004a0001c0010a0002c0007others(1): Show | a0001c0004t0001a0001c0004t0004a0001c0004t0005others(20): Show | a0001c0004t0001g0050a0001c0004t0001g0051a0001c0004t0001g0063others(76): Show | 79 | 408 | 0.1936 | 0 | c.138 others(3): Show |
p.Leu others(5): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 264/4355 | 138/1536 | 46/511 | chr22 | TogoVar | ||
ADAD1_chr4_122374011_122434784 | 122381089 | C | T | synonymous_variant | LOW | HG01109.hp2 HG01192.hp1 HG01884.hp2 others(30): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0006a0001c0002t0001g0017others(24): Show | 33 | 376 | 0.0878 | 0 | c.270 others(3): Show |
p.Tyr others(5): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 4/13 | 457/1963 | 270/1731 | 90/576 | chr4 | TogoVar | ||
ADAD1_chr4_122374011_122434784 | 122412667 | T | C | synonymous_variant | LOW | NA21309.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0315 | 1 | 376 | 0.0027 | 0 | c.110 others(4): Show |
p.Thr others(6): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 10/13 | 1294/1963 | 1107/1731 | 369/576 | chr4 | TogoVar | ||
ADAD1_chr4_122374011_122434784 | 122415416 | C | T | synonymous_variant | LOW | HG03139.hp1 NA19030.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0094a0001c0004t0001g0095 | 2 | 376 | 0.0053 | 0 | c.128 others(4): Show |
p.Ile others(6): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 11/13 | 1474/1963 | 1287/1731 | 429/576 | chr4 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84191578 | C | T | synonymous_variant | LOW | HG00408.hp2 HG02040.hp2 HG02129.hp2 others(15): Show |
a0001a0011 | a0001c0007a0001c0021a0001c0035others(1): Show | a0001c0007t0001a0001c0007t0004a0001c0021t0001others(2): Show | a0001c0007t0001g0007a0001c0007t0001g0019a0001c0007t0004g0031others(3): Show | 18 | 470 | 0.0383 | 0 | c.348 others(3): Show |
p.Ala others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 1/10 | 422/2018 | 348/1752 | 116/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84194461 | G | A | synonymous_variant | LOW | NA18964.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0001 | 1 | 470 | 0.0021 | 0 | c.438 others(3): Show |
p.Ser others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 2/10 | 512/2018 | 438/1752 | 146/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84195112 | C | T | synonymous_variant | LOW | HG01167.hp1 HG01169.hp2 |
a0002 | a0002c0022 | a0002c0022t0002 | a0002c0022t0002g0025 | 2 | 470 | 0.0043 | 0 | c.651 others(3): Show |
p.Ser others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 4/10 | 725/2018 | 651/1752 | 217/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84195136 | C | T | synonymous_variant | LOW | NA18984.hp1 | a0003 | a0003c0034 | a0003c0034t0001 | a0003c0034t0001g0003 | 1 | 470 | 0.0021 | 0 | c.675 others(3): Show |
p.Asp others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 4/10 | 749/2018 | 675/1752 | 225/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84195142 | C | T | synonymous_variant | LOW | NA19081.hp1 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0001 | 1 | 470 | 0.0021 | 0 | c.681 others(3): Show |
p.Arg others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 4/10 | 755/2018 | 681/1752 | 227/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84195145 | G | A | synonymous_variant | LOW | NA19240.hp2 | a0001 | a0001c0024 | a0001c0024t0004 | a0001c0024t0004g0012 | 1 | 470 | 0.0021 | 0 | c.684 others(3): Show |
p.Ser others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 4/10 | 758/2018 | 684/1752 | 228/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84195566 | G | A | synonymous_variant | LOW | HG02630.hp1 HG02717.hp2 |
a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0064a0001c0017t0001g0068 | 2 | 470 | 0.0043 | 0 | c.921 others(3): Show |
p.Gly others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 6/10 | 995/2018 | 921/1752 | 307/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84195680 | C | T | synonymous_variant | LOW | HG02559.hp1 NA20129.hp1 |
a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0007 | 2 | 470 | 0.0043 | 0 | c.103 others(4): Show |
p.Gly others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 6/10 | 1109/2018 | 1035/1752 | 345/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84195830 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(138): Show |
a0001a0002a0012others(3): Show | a0001c0002a0001c0006a0001c0011others(10): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0010others(12): Show | a0001c0002t0001g0001a0001c0002t0001g0008a0001c0002t0001g0034others(24): Show | 141 | 470 | 0.3000 | 0 | c.106 others(4): Show |
p.Ser others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 7/10 | 1142/2018 | 1068/1752 | 356/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84195953 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(360): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0004a0001c0007others(32): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0010others(42): Show | a0001c0002t0001g0001a0001c0002t0001g0008a0001c0002t0001g0034others(86): Show | 363 | 470 | 0.7723 | 0 | c.119 others(4): Show |
p.Ser others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 7/10 | 1265/2018 | 1191/1752 | 397/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84195974 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(134): Show |
a0001a0002a0012others(3): Show | a0001c0002a0001c0006a0001c0013others(8): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0010others(10): Show | a0001c0002t0001g0001a0001c0002t0001g0008a0001c0002t0001g0034others(23): Show | 137 | 470 | 0.2915 | 0 | c.121 others(4): Show |
p.Ala others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 7/10 | 1286/2018 | 1212/1752 | 404/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84196269 | C | T | synonymous_variant | LOW | HG01243.hp1 NA18906.hp2 |
a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0030 | 2 | 470 | 0.0043 | 0 | c.142 others(4): Show |
p.Ser others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 8/10 | 1499/2018 | 1425/1752 | 475/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84196359 | T | A | synonymous_variant | LOW | HG02615.hp1 HG03486.hp2 |
a0006 | a0006c0016 | a0006c0016t0007 | a0006c0016t0007g0063a0006c0016t0007g0065 | 2 | 470 | 0.0043 | 0 | c.151 others(4): Show |
p.Arg others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 8/10 | 1589/2018 | 1515/1752 | 505/583 | chr16 | TogoVar | ||
ADAD2_chr16_84186157_84202166 | 84196894 | A | C | synonymous_variant | LOW | HG00099.hp2 HG00280.hp2 HG00544.hp1 others(138): Show |
a0001a0002a0003others(6): Show | a0001c0035a0002c0008a0002c0022others(10): Show | a0001c0035t0001a0002c0008t0002a0002c0022t0002others(11): Show | a0001c0035t0001g0049a0002c0008t0002g0009a0002c0008t0002g0041others(31): Show | 141 | 470 | 0.3000 | 0 | c.167 others(4): Show |
p.Arg others(6): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 10/10 | 1746/2018 | 1672/1752 | 558/583 | chr16 | TogoVar | ||
ADAL_chr15_43325672_43359569 | 43340300 | C | T | synonymous_variant | LOW | HG02129.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0074 | 1 | 386 | 0.0026 | 0 | c.291 others(3): Show |
p.Asp others(5): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 7/13 | 867/4268 | 291/1068 | 97/355 | chr15 | TogoVar | ||
ADAL_chr15_43325672_43359569 | 43340333 | C | G | synonymous_variant | LOW | HG00544.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0043 | 1 | 386 | 0.0026 | 0 | c.324 others(3): Show |
p.Pro others(6): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 7/13 | 900/4268 | 324/1068 | 108/355 | chr15 | TogoVar | ||
ADAL_chr15_43325672_43359569 | 43340351 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(211): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0005others(121): Show | 214 | 386 | 0.5544 | 0 | c.342 others(3): Show |
p.Thr others(6): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 7/13 | 918/4268 | 342/1068 | 114/355 | chr15 | TogoVar | ||
ADAL_chr15_43325672_43359569 | 43343049 | A | G | synonymous_variant | LOW | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0003a0001c0003t0005g0162a0001c0003t0005g0163 | 8 | 386 | 0.0207 | 0 | c.399 others(3): Show |
p.Lys others(6): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 8/13 | 975/4268 | 399/1068 | 133/355 | chr15 | TogoVar | ||
ADAL_chr15_43325672_43359569 | 43348987 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00280.hp1 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0112a0001c0006t0004g0124 | 2 | 386 | 0.0052 | 0 | c.714 others(3): Show |
p.Ser others(6): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 11/13 | 1290/4268 | 714/1068 | 238/355 | chr15 | TogoVar |