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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADCK1_chr14_77795109_77940014 | 77816881 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01515.hp2 HG01516.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0095a0001c0001t0001g0097a0001c0001t0002g0255others(5): Show | 8 | 286 | 0.0280 | 24 | c.-11 others(41): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852669 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG00741.hp2 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0033a0001c0004t0002g0034a0001c0004t0002g0035others(7): Show | 10 | 286 | 0.0350 | 24 | c.220 others(41): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 286 | 0.0035 | 24 | c.220 others(41): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18995.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0025a0001c0002t0013g0018 | 2 | 286 | 0.0070 | 24 | c.220 others(41): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0159 | 1 | 286 | 0.0035 | 24 | c.220 others(41): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0034 | 1 | 286 | 0.0035 | 24 | c.220 others(41): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77938169 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0009 | a0001c0001t0006g0078a0001c0003t0009g0004 | 2 | 286 | 0.0070 | 24 | c.*47 others(35): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3156 | chr14 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144372905 | A | AGGGGCCA others(17): Show |
upstream_gene_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120 | 1 | 346 | 0.0029 | 24 | c.-11 others(35): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 1141 | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144374771 | T | TGCGTCGT others(17): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 346 | 0.0029 | 24 | c.12+ others(37): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADCY10_chr1_167804386_167919134 | 167836604 | T | TTAGGGAC others(17): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0016 | a0016c0035 | a0016c0035t0001 | a0016c0035t0001g0049 | 1 | 326 | 0.0031 | 24 | c.307 others(39): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 22/32 | chr1 | TogoVar | ||||||
ADCY10_chr1_167804386_167919134 | 167853830 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0082 | 1 | 326 | 0.0031 | 24 | c.230 others(41): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 18/32 | chr1 | TogoVar | ||||||
ADCY10_chr1_167804386_167919134 | 167897997 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0009 | 1 | 326 | 0.0031 | 24 | c.643 others(41): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 6/32 | chr1 | TogoVar | ||||||
ADCY1_chr7_45569368_45728116 | 45583937 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18960.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0015a0003c0004t0037 | a0001c0001t0015g0056a0003c0004t0037g0055 | 2 | 278 | 0.0072 | 24 | c.639 others(41): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45641932 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(21): Show |
a0001 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070others(21): Show | 24 | 278 | 0.0863 | 24 | c.102 others(43): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45711897 | T | TTATATTA others(17): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0094 | 1 | 278 | 0.0036 | 24 | c.305 others(43): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45725391 | G | GGGAAGGA others(17): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0019 | 1 | 278 | 0.0036 | 24 | c.*11 others(37): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 2276 | chr7 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7501646 | T | TCCCACCC others(17): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0075 | 1 | 140 | 0.0071 | 24 | c.409 others(43): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7557135 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0127 | 1 | 140 | 0.0071 | 24 | c.570 others(43): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7589458 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0014 | a0001c0014t0019 | a0001c0014t0019g0139 | 1 | 140 | 0.0071 | 24 | c.571 others(43): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7673269 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02970.hp2 HG06807.hp1 |
a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0013a0001c0009t0003g0019a0001c0009t0003g0043 | 3 | 140 | 0.0214 | 24 | c.721 others(43): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7673269 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 140 | 0.0071 | 24 | c.721 others(43): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7804040 | A | AAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01496.hp2 HG02027.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0002a0002c0003t0005others(1): Show | a0001c0001t0001g0004a0002c0002t0002g0130a0002c0003t0005g0097others(1): Show | 4 | 140 | 0.0286 | 24 | c.277 others(41): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY3_chr2_24814169_24925237 | 24817466 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0229 | 1 | 272 | 0.0037 | 24 | c.*24 others(35): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 1702 | chr2 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123310103 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18947.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0148a0002c0006t0001g0206 | 2 | 260 | 0.0077 | 24 | c.244 others(43): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 12/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACAGACA others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01074.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0111a0001c0001t0001g0118a0001c0001t0001g0204others(16): Show | 19 | 260 | 0.0731 | 24 | c.140 others(43): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACAGACA others(17): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02129.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0112a0001c0001t0001g0116a0001c0001t0001g0136others(6): Show | 9 | 260 | 0.0346 | 24 | c.140 others(43): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACAGACA others(17): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 260 | 0.0039 | 24 | c.140 others(43): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123346607 | T | TTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02027.hp1 |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0001a0009c0014t0002 | a0001c0001t0001g0121a0009c0014t0002g0001 | 2 | 260 | 0.0077 | 24 | c.140 others(43): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123348036 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02809.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0014a0001c0001t0035others(2): Show | a0001c0001t0001g0098a0001c0001t0001g0130a0001c0001t0001g0214others(4): Show | 7 | 260 | 0.0269 | 24 | c.128 others(41): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 2/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123358195 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 260 | 0.0039 | 24 | c.113 others(43): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123359331 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02145.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0189a0001c0001t0001g0244a0001c0001t0002g0006others(3): Show | 6 | 260 | 0.0231 | 24 | c.113 others(43): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123359354 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0011a0001c0001t0017g0005 | 2 | 260 | 0.0077 | 24 | c.113 others(43): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY7_chr16_50261551_50323135 | 50270176 | C | CAGATAGA others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0009 | 1 | 338 | 0.0030 | 24 | c.-26 others(43): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ADCY8_chr8_130775301_131045909 | 130822535 | A | AATCCATG others(17): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18951.hp2 NA19070.hp2 |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0005t0001a0001c0010t0002 | a0001c0001t0001g0146a0001c0005t0001g0130a0001c0010t0002g0208 | 3 | 246 | 0.0122 | 24 | c.267 others(43): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 12/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130926940 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0098 | 1 | 246 | 0.0041 | 24 | c.148 others(45): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3969569 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02559.hp2 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0021 | a0001c0003t0001g0265a0002c0004t0021g0240 | 2 | 320 | 0.0063 | 24 | c.287 others(43): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3969612 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0018 | a0002c0018t0120 | a0002c0018t0120g0192 | 1 | 320 | 0.0031 | 24 | c.287 others(43): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3988428 | A | AGTTCCCT others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG02109.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0059 | a0001c0001t0006a0001c0001t0011a0001c0001t0029others(5): Show | a0001c0001t0006g0284a0001c0001t0011g0174a0001c0001t0011g0220others(6): Show | 9 | 320 | 0.0281 | 24 | c.231 others(41): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 6/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4018951 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00673.hp2 others(41): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0010a0001c0001t0019a0001c0001t0056others(32): Show | a0001c0001t0010g0292a0001c0001t0010g0294a0001c0001t0019g0014others(41): Show | 44 | 320 | 0.1375 | 24 | c.169 others(45): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4097487 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0011 | a0002c0011t0017 | a0002c0011t0017g0198 | 1 | 320 | 0.0031 | 24 | c.169 others(45): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADD1_chr4_2838844_2935062 | 2852189 | T | TCCTTTCT others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0308 | 1 | 320 | 0.0031 | 24 | c.-21 others(41): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110003302 | G | GGGGTGTG others(17): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 NA18951.hp2 NA18995.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0040others(1): Show | 4 | 288 | 0.0139 | 24 | c.-50 others(35): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 4681 | chr10 | TogoVar | ||||||
ADD3_chr10_110002984_110140565 | 110065539 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01952.hp1 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0159a0001c0001t0002g0165a0001c0001t0002g0182others(5): Show | 8 | 288 | 0.0278 | 24 | c.-29 others(43): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110065548 | T | TTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 288 | 0.0035 | 24 | c.-29 others(43): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146614183 | C | CCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 NA18973.hp2 |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0002a0001c0002t0002a0001c0015t0002 | a0001c0001t0002g0119a0001c0002t0002g0120a0001c0015t0002g0167 | 3 | 276 | 0.0109 | 24 | c.74+ others(41): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146614223 | T | TCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0200 | 1 | 276 | 0.0036 | 24 | c.74+ others(41): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146691477 | A | AAAATATA others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0029 | a0029c0045 | a0029c0045t0002 | a0029c0045t0002g0023 | 1 | 276 | 0.0036 | 24 | c.148 others(41): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133092747 | G | GAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 368 | 0.0027 | 24 | c.3+3 others(37): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133092839 | G | GGGAGGGA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(41): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(21): Show | a0001c0001t0002g0128a0001c0001t0002g0165a0001c0001t0002g0199others(41): Show | 44 | 368 | 0.1196 | 24 | c.3+3 others(37): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA2_chr8_37791883_37849896 | 37804100 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19086.hp1 |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0001 | a0001c0002t0001g0043a0003c0006t0001g0029 | 2 | 370 | 0.0054 | 24 | c.266 others(41): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |