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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTG2_chr2_73888008_73924865 | 73904773 | GTGTGTAT others(9): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0373a0001c0001t0005g0381a0001c0001t0005g0382others(1): Show | 4 | 416 | 0.0096 | -16 | c.255 others(33): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904777 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 NA19091.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0057a0001c0002t0003g0102a0001c0002t0003g0176 | 3 | 416 | 0.0072 | -16 | c.255 others(33): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG01952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0098a0001c0001t0001g0101others(4): Show | 7 | 360 | 0.0194 | -16 | c.369 others(33): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | ||||||
ACTL7A_chr9_108857266_108868756 | 108858823 | GACACACA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(115): Show |
a0001a0004a0008 | a0001c0001a0001c0012a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0012t0001others(2): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0012t0001g0000others(2): Show | 118 | 482 | 0.2448 | -16 | c.-34 others(27): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3442 | chr9 | TogoVar | ||||||
ACTL7B_chr9_108849588_108860986 | 108858823 | GACACACA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000others(6): Show | 114 | 470 | 0.2426 | -16 | c.-29 others(27): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2838 | chr9 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68872229 | CTCAGGGA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 284 | 0.0035 | -16 | c.*26 others(27): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1898 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236689300 | GATATATA others(9): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 344 | 0.0029 | -16 | c.126 others(33): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236689324 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0338a0001c0001t0001g0341a0001c0001t0001g0342others(4): Show | 7 | 344 | 0.0204 | -16 | c.126 others(33): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236693177 | GCACACAC others(9): Show |
G | intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0019 | a0002c0019t0004 | a0002c0019t0004g0002 | 1 | 344 | 0.0029 | -16 | c.126 others(33): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN3_chr11_66541903_66568334 | 66567401 | TGGCTCCT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02074.hp2 HG02132.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0052others(4): Show | 9 | 400 | 0.0225 | -16 | c.*42 others(27): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 4068 | chr11 | TogoVar | ||||||
ACTR1B_chr2_97650939_97669044 | 97665723 | CTCTCTCT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 398 | 0.0025 | -16 | c.-18 others(27): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1680 | chr2 | TogoVar | ||||||
ACTR1B_chr2_97650939_97669044 | 97665727 | CTCTCTCT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0007 | 1 | 398 | 0.0025 | -16 | c.-18 others(27): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1684 | chr2 | TogoVar | ||||||
ACTR1B_chr2_97650939_97669044 | 97665731 | CTCTCTCT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG02145.hp2 HG03041.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0003 | a0001c0002t0003g0035a0002c0003t0003g0005a0002c0003t0003g0010 | 3 | 398 | 0.0075 | -16 | c.-18 others(27): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1688 | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65263805 | TGAGGCCG others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(126): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(103): Show | 129 | 326 | 0.3957 | -16 | c.882 others(33): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152778943 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00597.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0110a0001c0001t0001g0205a0001c0001t0001g0206others(19): Show | 22 | 310 | 0.0710 | -16 | c.45- others(31): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152812019 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01934.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019a0001c0001t0002g0020a0001c0001t0002g0177others(1): Show | 4 | 310 | 0.0129 | -16 | c.337 others(33): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3C_chr7_150242212_150328545 | 150289837 | AAAATGAT others(9): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(88): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0044a0002c0002t0001g0001a0002c0002t0001g0008others(84): Show | 91 | 294 | 0.3095 | -16 | c.154 others(31): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157554201 | GAGAAAGA others(9): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01169.hp2 others(4): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0006 | a0001c0002t0007a0002c0003t0009a0003c0006t0005 | a0001c0002t0007g0065a0001c0002t0007g0072a0001c0002t0007g0140others(4): Show | 7 | 216 | 0.0324 | -16 | c.544 others(33): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157588848 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 |
a0001 | a0001c0002 | a0001c0002t0014a0001c0002t0028 | a0001c0002t0014g0049a0001c0002t0028g0048 | 2 | 216 | 0.0093 | -16 | c.74- others(31): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157599314 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA18988.hp1 NA19002.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0208a0001c0002t0003g0133 | 2 | 216 | 0.0093 | -16 | c.74- others(33): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157855269 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0003 | a0001c0002t0001g0145a0001c0003t0003g0144 | 2 | 174 | 0.0115 | -16 | c.-18 others(37): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147908039 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG00408.hp1 NA18959.hp2 NA18974.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0008a0001c0008t0008 | a0001c0001t0008g0018a0001c0001t0008g0019a0001c0001t0008g0124others(2): Show | 5 | 338 | 0.0148 | -16 | c.529 others(33): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TACACACA others(9): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01515.hp2 HG03041.hp1 HG03710.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0074a0001c0001t0191others(1): Show | a0001c0001t0053g0027a0001c0001t0053g0046a0001c0001t0074g0061others(2): Show | 5 | 410 | 0.0122 | -16 | c.*94 others(27): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9457 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACVR2B_chr3_38448890_38498142 | 38492789 | CACACACA others(9): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG02647.hp2 HG03834.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0066a0001c0001t0114others(1): Show | a0001c0001t0008g0006a0001c0001t0008g0008a0001c0001t0008g0032others(4): Show | 8 | 410 | 0.0195 | -16 | c.*94 others(27): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9462 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACY1_chr3_51978535_51994197 | 51981817 | GGAGCTTG others(9): Show |
G | upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | -16 | c.-17 others(27): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1717 | chr3 | TogoVar | ||||||
ACY1_chr3_51978535_51994197 | 51981894 | CAAAAAAA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02809.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006 | 6 | 338 | 0.0178 | -16 | c.-17 others(27): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1640 | chr3 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67652205 | AAAATAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02622.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0015a0001c0001t0004g0017a0001c0001t0007g0048others(4): Show | 10 | 396 | 0.0253 | -16 | c.-17 others(27): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1476 | chr11 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54013255 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0122 | 1 | 272 | 0.0037 | -16 | c.63- others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54065083 | CTAAATAA others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(6): Show | a0001c0001t0001g0196a0001c0001t0001g0221a0001c0001t0004g0170others(66): Show | 69 | 272 | 0.2537 | -16 | c.277 others(33): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54093942 | AAAACAAA others(9): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02056.hp2 NA19087.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0011a0001c0002t0002g0050a0001c0002t0005g0035 | 3 | 272 | 0.0110 | -16 | c.277 others(35): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54165531 | TCTCTCAC others(9): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0070a0001c0002t0003g0073a0001c0002t0003g0074others(2): Show | 5 | 272 | 0.0184 | -16 | c.404 others(35): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54165533 | TCTCACAC others(9): Show |
T | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 272 | 0.0037 | -16 | c.404 others(35): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54276619 | TCACACAC others(9): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0174a0001c0001t0001g0192a0001c0001t0001g0194others(1): Show | 4 | 272 | 0.0147 | -16 | c.405 others(35): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54292669 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp1 HG01346.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0105a0001c0001t0001g0169a0001c0001t0001g0174others(18): Show | 21 | 272 | 0.0772 | -16 | c.405 others(35): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54307828 | CTTTTTTT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0233a0001c0001t0001g0263a0001c0002t0001g0100others(5): Show | 8 | 272 | 0.0294 | -16 | c.*30 others(27): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2529 | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17193358 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0001g0164a0001c0001t0001g0285a0001c0001t0004g0378others(42): Show | 45 | 408 | 0.1103 | -16 | c.754 others(33): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17219660 | GGTTTGTT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp1 HG03486.hp1 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0002a0002c0002t0001a0002c0002t0010others(1): Show | a0001c0005t0002g0033a0002c0002t0001g0031a0002c0002t0010g0032others(1): Show | 4 | 408 | 0.0098 | -16 | c.-36 others(25): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 226 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17222472 | GTGTGTAT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02965.hp2 HG03130.hp1 |
a0001 | a0001c0004a0001c0005a0001c0013 | a0001c0004t0015a0001c0005t0027a0001c0013t0001 | a0001c0004t0015g0058a0001c0005t0027g0017a0001c0013t0001g0056 | 3 | 408 | 0.0074 | -16 | c.-31 others(27): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3038 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17222474 | GTGTATAT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0049 | 1 | 408 | 0.0025 | -16 | c.-31 others(27): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3040 | chr22 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT others(9): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0095a0001c0001t0115 | a0001c0001t0095g0041a0001c0001t0115g0330 | 2 | 342 | 0.0059 | -16 | c.*43 others(27): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4382 | chr15 | TogoVar | |||||
ADAM10_chr15_58583809_58754707 | 58685545 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(19): Show | a0001c0001t0001g0100a0001c0001t0001g0109a0001c0001t0001g0111others(65): Show | 68 | 342 | 0.1988 | -16 | c.207 others(33): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58720394 | ATTTTATT others(9): Show |
A | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 342 | 0.0029 | -16 | c.56- others(31): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086672 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0017 | 1 | 252 | 0.0040 | -16 | c.114 others(35): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113675 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0145 | 1 | 252 | 0.0040 | -16 | c.604 others(33): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113679 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0029 | 1 | 252 | 0.0040 | -16 | c.604 others(33): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113687 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0166 | 1 | 252 | 0.0040 | -16 | c.604 others(33): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126190989 | CCTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02080.hp1 HG02451.hp1 others(13): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0001c0019others(8): Show | a0001c0002t0002a0001c0002t0006a0001c0003t0012others(9): Show | a0001c0002t0002g0022a0001c0002t0006g0132a0001c0002t0006g0172others(13): Show | 16 | 252 | 0.0635 | -16 | c.261 others(35): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126311094 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0135 | 1 | 252 | 0.0040 | -16 | c.186 others(35): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 2/22 | chr10 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9487821 | TGTGTGTG others(9): Show |
T | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0047 | 1 | 234 | 0.0043 | -16 | c.*23 others(27): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 664 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9487823 | TGTGTGTG others(9): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02976.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0014a0001c0001t0012g0111a0001c0001t0012g0112 | 3 | 234 | 0.0128 | -16 | c.*23 others(27): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 662 | chr2 | TogoVar |