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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 |
a0001a0027 | a0001c0056a0027c0028 | a0001c0056t0003a0027c0028t0010 | a0001c0056t0003g0006a0027c0028t0010g0007 | 2 | 218 | 0.0092 | 28 | c.157 others(47): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0007 | a0007c0022 | a0007c0022t0001 | a0007c0022t0001g0169 | 1 | 218 | 0.0046 | 28 | c.157 others(47): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAATATA others(21): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0078 | 1 | 218 | 0.0046 | 28 | c.157 others(47): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0017 | 1 | 218 | 0.0046 | 28 | c.157 others(47): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18756118 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0008 | a0008c0017 | a0008c0017t0004 | a0008c0017t0004g0157 | 1 | 218 | 0.0046 | 28 | c.221 others(47): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18522.hp1 NA18906.hp1 others(2): Show |
a0001a0002a0010others(1): Show | a0001c0003a0001c0005a0002c0018others(2): Show | a0001c0003t0002a0001c0005t0002a0002c0018t0003others(2): Show | a0001c0003t0002g0184a0001c0005t0002g0118a0002c0018t0003g0086others(2): Show | 5 | 218 | 0.0229 | 28 | c.425 others(49): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133563818 | G | GGAGGGAG others(21): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0082 | 1 | 152 | 0.0066 | 28 | c.174 others(47): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83714761 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03579.hp2 HG03654.hp2 others(2): Show |
a0006a0012a0023 | a0006c0006a0012c0035a0023c0028 | a0006c0006t0001a0012c0035t0001a0023c0028t0001 | a0006c0006t0001g0101a0006c0006t0001g0108a0006c0006t0001g0109others(2): Show | 5 | 274 | 0.0183 | 28 | c.189 others(47): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83714785 | T | TTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG02004.hp2 others(3): Show |
a0003a0005a0040 | a0003c0003a0005c0005a0040c0052 | a0003c0003t0001a0005c0005t0002a0040c0052t0002 | a0003c0003t0001g0025a0005c0005t0002g0019a0005c0005t0002g0020others(3): Show | 6 | 274 | 0.0219 | 28 | c.189 others(47): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(21): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0065 | 1 | 274 | 0.0037 | 28 | c.318 others(45): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(21): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 274 | 0.0037 | 28 | c.318 others(45): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(21): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 274 | 0.0037 | 28 | c.318 others(45): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45113479 | A | ATGTGTGT others(21): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0048 | 1 | 350 | 0.0029 | 28 | c.-21 others(49): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB2_chr10_1172313_1742525 | 1214358 | C | CGCATGGG others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01433.hp2 HG01934.hp1 others(22): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(15): Show | a0001c0001t0003g0085a0001c0001t0003g0094a0001c0001t0003g0097others(22): Show | 25 | 106 | 0.2359 | 28 | c.168 others(47): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1214361 | A | ATGGGTTT others(21): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0011 | a0007c0011t0034 | a0007c0011t0034g0076 | 1 | 106 | 0.0094 | 28 | c.168 others(47): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1238371 | T | TCCCCCCC others(21): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0004 | 1 | 106 | 0.0094 | 28 | c.136 others(47): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1608774 | G | GAGAAAGA others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02083.hp1 HG02145.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0060a0002c0002t0008 | a0001c0003t0060g0104a0002c0002t0008g0042a0002c0002t0008g0058 | 3 | 106 | 0.0283 | 28 | c.100 others(49): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1625880 | T | TGCCCCAC others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(53): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(42): Show | a0001c0001t0001g0045a0001c0001t0003g0085a0001c0001t0003g0097others(53): Show | 56 | 106 | 0.5283 | 28 | c.100 others(49): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1625894 | C | CGCCTCTG others(21): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0032 | 1 | 106 | 0.0094 | 28 | c.100 others(49): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1672735 | G | GCTCCTGC others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01934.hp1 HG02027.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0055others(12): Show | a0001c0001t0003g0085a0001c0001t0003g0098a0001c0001t0009g0054others(17): Show | 20 | 106 | 0.1887 | 28 | c.100 others(47): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75624114 | C | CATATATA others(21): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0005 | a0004c0005t0025 | a0004c0005t0025g0097 | 1 | 348 | 0.0029 | 28 | c.-17 others(39): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 834 | chr16 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143427096 | A | AACACACA others(21): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0068a0001c0001t0069others(4): Show | a0001c0001t0028g0013a0001c0001t0068g0117a0001c0001t0069g0107others(4): Show | 8 | 322 | 0.0248 | 28 | c.*13 others(39): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 1366 | chr6 | TogoVar | |||||
ADAT3_chr19_1900399_1918447 | 1906866 | T | TTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 442 | 0.0023 | 28 | c.-15 others(47): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77816881 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01192.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0088a0001c0004t0002g0035a0001c0004t0002g0217others(2): Show | 5 | 286 | 0.0175 | 28 | c.-11 others(45): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02145.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0039a0001c0001t0002g0072 | 3 | 286 | 0.0105 | 28 | c.220 others(45): 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(21): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG02818.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0030a0001c0001t0002g0070a0001c0002t0003g0156 | 3 | 286 | 0.0105 | 28 | c.220 others(45): 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(21): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0084 | 1 | 286 | 0.0035 | 28 | c.220 others(45): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCK1_chr14_77795109_77940014 | 77905303 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0060 | 1 | 286 | 0.0035 | 28 | c.742 others(45): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 6/10 | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77921326 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 286 | 0.0035 | 28 | c.859 others(45): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45641932 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02027.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0057a0001c0001t0076 | a0001c0001t0057g0010a0001c0001t0076g0219 | 2 | 278 | 0.0072 | 28 | c.102 others(47): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45641946 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0064 | 1 | 278 | 0.0036 | 28 | c.102 others(47): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 4/19 | chr7 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7673269 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0113 | 1 | 140 | 0.0071 | 28 | c.721 others(47): 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(21): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0108 | 1 | 140 | 0.0071 | 28 | c.277 others(45): 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(21): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 HG03540.hp2 NA18954.hp1 |
a0001 | a0001c0008a0001c0010a0001c0012 | a0001c0008t0003a0001c0010t0003a0001c0012t0001 | a0001c0008t0003g0243a0001c0010t0003g0265a0001c0012t0001g0113 | 3 | 272 | 0.0110 | 28 | c.*24 others(39): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 1702 | chr2 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123310103 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02129.hp2 HG02523.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0025a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0025t0001others(1): Show | a0001c0001t0001g0224a0001c0001t0002g0065a0001c0001t0002g0081others(2): Show | 5 | 260 | 0.0192 | 28 | c.244 others(47): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 12/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123345765 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0172 | 1 | 260 | 0.0039 | 28 | c.140 others(47): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACAGACA others(21): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01978.hp1 HG01993.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0003 | a0001c0001t0001g0212a0001c0001t0003g0141a0001c0001t0003g0226others(4): Show | 7 | 260 | 0.0269 | 28 | c.140 others(47): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACAGACA others(21): Show |
intron_variant | MODIFIER | HG02080.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0109 | 2 | 260 | 0.0077 | 28 | c.140 others(47): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACAGACA others(21): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 260 | 0.0039 | 28 | c.140 others(47): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123348036 | A | AGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112a0001c0001t0001g0183 | 2 | 260 | 0.0077 | 28 | c.128 others(45): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 2/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123359331 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 260 | 0.0039 | 28 | c.113 others(47): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123396013 | A | AGAAAGAG others(21): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03453.hp1 |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0018 | a0001c0003t0007g0185a0001c0003t0018g0020 | 2 | 260 | 0.0077 | 28 | c.113 others(49): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130846894 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022 | 1 | 246 | 0.0041 | 28 | c.250 others(45): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 11/17 | chr8 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3999477 | A | AAGGAGGA others(21): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0009 | a0001c0009t0099 | a0001c0009t0099g0181 | 1 | 320 | 0.0031 | 28 | c.188 others(47): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4018951 | T | TTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03942.hp2 |
a0001a0002 | a0001c0006a0002c0004 | a0001c0006t0002a0002c0004t0001 | a0001c0006t0002g0088a0002c0004t0001g0286 | 2 | 320 | 0.0063 | 28 | c.169 others(49): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4097487 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0294 | 1 | 320 | 0.0031 | 28 | c.169 others(49): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4112569 | G | GTCTCTGA others(21): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0022 | a0001c0022t0059 | a0001c0022t0059g0051 | 1 | 320 | 0.0031 | 28 | c.169 others(47): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADD1_chr4_2838844_2935062 | 2852138 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 320 | 0.0031 | 28 | c.-21 others(45): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADD1_chr4_2838844_2935062 | 2852189 | T | TCTTTCCT others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02615.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0006 | a0003c0003t0001g0235a0003c0003t0001g0310a0003c0003t0001g0311others(1): Show | 4 | 320 | 0.0125 | 28 | c.-21 others(45): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADD1_chr4_2838844_2935062 | 2852193 | T | TCCTTTCT others(21): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 320 | 0.0031 | 28 | c.-21 others(45): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |