view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADARB2_chr10_1172313_1742525 | 1337062 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0004 | 1 | 33 | 0.0303 | 12 | c.107 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1337082 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02083.hp1 HG02145.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(10): Show | a0001c0001t0001g0069 a0001c0001t0003g0094 a0001c0001t0019g0038 others(10): Show |
13 | 103 | 0.1262 | 12 | c.107 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1437255 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(96): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(66): Show | a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0069 others(96): Show |
99 | 104 | 0.9519 | 12 | c.101 others(31): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1444281 | A | ACATCCAT others(5): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0017a0001c0007t0066 | a0001c0001t0017g0030 a0001c0007t0066g0105 |
2 | 55 | 0.0364 | 12 | c.101 others(31): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1486210 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0050 | a0001c0001t0001g0078 a0001c0001t0050g0077 |
2 | 40 | 0.0500 | 12 | c.101 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1498375 | C | CAAATAAA others(5): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0033 | 1 | 37 | 0.0270 | 12 | c.101 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1510110 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02630.hp2 HG02683.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0009a0001c0003t0001a0001c0003t0060others(1): Show | a0001c0001t0009g0055 a0001c0003t0001g0070 a0001c0003t0060g0104 others(1): Show |
4 | 29 | 0.1379 | 12 | c.101 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1510110 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02055.hp2 HG02145.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0052a0001c0001t0057a0002c0002t0002others(3): Show | a0001c0001t0052g0062 a0001c0001t0057g0103 a0002c0002t0002g0050 others(3): Show |
6 | 31 | 0.1935 | 12 | c.101 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1514178 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02630.hp2 HG02717.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0012a0001c0001t0035a0001c0001t0056others(3): Show | a0001c0001t0012g0024 a0001c0001t0035g0079 a0001c0001t0056g0081 others(3): Show |
6 | 15 | 0.4000 | 12 | c.101 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1524059 | A | AAGATAGA others(5): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0038 | 1 | 63 | 0.0159 | 12 | c.101 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1544956 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0030 | 1 | 10 | 0.1000 | 12 | c.101 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1568800 | C | CTCTATCT others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01433.hp2 HG02027.hp2 others(5): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0008 | a0001c0001t0003a0001c0001t0015a0001c0001t0055others(5): Show | a0001c0001t0003g0097 a0001c0001t0015g0005 a0001c0001t0055g0089 others(5): Show |
8 | 33 | 0.2424 | 12 | c.100 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1633549 | C | CATCTATC others(5): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0064 | a0002c0002t0064g0100 | 1 | 37 | 0.0270 | 12 | c.100 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1673314 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG02027.hp1 others(5): Show |
a0001a0002a0011 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0054others(5): Show | a0001c0001t0001g0045 a0001c0001t0015g0005 a0001c0001t0054g0083 others(5): Show |
8 | 21 | 0.3810 | 12 | c.100 others(31): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADAR_chr1_154577057_154613186 | 154581771 | A | AAATCAAT others(5): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 NA18983.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0142 |
3 | 182 | 0.0165 | 12 | c.*30 others(23): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 285 | chr1 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75604456 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02055.hp1 |
a0005 | a0005c0006 | a0005c0006t0011 | a0005c0006t0011g0116 a0005c0006t0011g0122 |
2 | 275 | 0.0073 | 12 | c.129 others(31): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75604456 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0012a0005c0006t0043 | a0004c0005t0012g0111 a0005c0006t0043g0115 |
2 | 275 | 0.0073 | 12 | c.129 others(31): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75604474 | T | TATACACA others(5): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 a0001c0001t0002g0294 |
2 | 232 | 0.0086 | 12 | c.129 others(31): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75618098 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0005 | a0004c0005t0012 | a0004c0005t0012g0109 | 1 | 229 | 0.0044 | 12 | c.293 others(27): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 4/9 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624114 | C | CATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 NA18972.hp1 |
a0003a0007 | a0003c0004a0007c0007 | a0003c0004t0034a0007c0007t0004 | a0003c0004t0034g0038 a0007c0007t0004g0040 |
2 | 334 | 0.0060 | 12 | c.-17 others(23): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 834 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01884.hp1 HG02615.hp1 |
a0003a0005 | a0003c0004a0005c0006 | a0003c0004t0015a0005c0006t0011a0005c0006t0017 | a0003c0004t0015g0024 a0005c0006t0011g0116 a0005c0006t0017g0121 |
3 | 70 | 0.0429 | 12 | c.-17 others(23): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02615.hp2 |
a0005 | a0005c0006 | a0005c0006t0011a0005c0006t0043 | a0005c0006t0011g0120 a0005c0006t0011g0122 a0005c0006t0043g0115 |
3 | 70 | 0.0429 | 12 | c.-17 others(23): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 | 1 | 68 | 0.0147 | 12 | c.-17 others(23): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT2_chr6_143417832_143455695 | 143425727 | T | TTGTGTGT others(5): Show |
3_prime_UTR_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0150 | a0001c0001t0150g0187 | 1 | 320 | 0.0031 | 12 | c.*27 others(23): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 2735 | chr6 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143425733 | T | TTGTGTGT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG01928.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0024a0001c0001t0053a0001c0001t0071others(8): Show | a0001c0001t0024g0026 a0001c0001t0024g0180 a0001c0001t0053g0097 others(10): Show |
14 | 34 | 0.4118 | 12 | c.*27 others(23): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 2729 | chr6 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143427096 | A | AACACACA others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp1 HG03209.hp2 HG03704.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0098a0001c0001t0099a0001c0001t0172others(2): Show | a0001c0001t0098g0246 a0001c0001t0099g0038 a0001c0001t0172g0252 others(2): Show |
5 | 26 | 0.1923 | 12 | c.*13 others(23): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 1366 | chr6 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143442476 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01099.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(4): Show | a0001c0001t0002g0053 a0001c0001t0006g0051 a0001c0001t0012g0005 others(5): Show |
10 | 130 | 0.0769 | 12 | c.97- others(27): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
ADAT3_chr19_1900399_1918447 | 1906866 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03130.hp1 NA18522.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0041 a0001c0008t0001g0101 |
3 | 136 | 0.0221 | 12 | c.-15 others(31): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADA_chr20_44614522_44656699 | 44652734 | G | GTTTTTTA others(5): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 98 | 0.0102 | 12 | c.-11 others(23): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 1036 | chr20 | TogoVar | |||||||
ADCK1_chr14_77795109_77940014 | 77816881 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03710.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0002g0042 others(3): Show |
6 | 127 | 0.0472 | 12 | c.-11 others(29): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77842448 | T | TTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 199 | 0.0050 | 12 | c.220 others(31): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77842448 | T | TTTTTTTC others(5): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0002 | 1 | 199 | 0.0050 | 12 | c.220 others(31): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852660 | A | AATAAATA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0011 | a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0002t0001g0180 others(2): Show |
5 | 71 | 0.0704 | 12 | c.220 others(29): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852883 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01346.hp1 HG01433.hp2 others(11): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0135 a0001c0001t0001g0243 a0001c0001t0001g0258 others(11): Show |
14 | 129 | 0.1085 | 12 | c.220 others(29): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATTT others(5): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 | 1 | 163 | 0.0061 | 12 | c.220 others(29): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77893736 | C | CCTTCCTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(113): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0055 a0001c0001t0001g0088 a0001c0001t0001g0095 others(113): Show |
116 | 276 | 0.4203 | 12 | c.583 others(29): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77894736 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0142 | 1 | 64 | 0.0156 | 12 | c.583 others(29): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77905304 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0002a0001c0004t0002a0001c0005t0004 | a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0059 others(7): Show |
10 | 130 | 0.0769 | 12 | c.742 others(29): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77921326 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0103 a0001c0001t0002g0030 a0001c0001t0002g0046 others(18): Show |
21 | 83 | 0.2530 | 12 | c.859 others(29): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK2_chr7_140667945_140700110 | 140677021 | T | TCAAACAA others(5): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0141 | 1 | 174 | 0.0057 | 12 | c.108 others(31): Show |
ADCK2 | ENSG00000133597.11 | transcript | ENST00000072869.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144369453 | A | AAATAATA others(5): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00738.hp1 others(44): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0063 others(35): Show |
47 | 65 | 0.7231 | 12 | c.-46 others(23): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 4593 | chr8 | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144392414 | C | CCCCTCCC others(5): Show |
splice_region_variant others(1): Show |
LOW | HG02300.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070 a0001c0001t0002g0135 |
2 | 304 | 0.0066 | 12 | c.126 others(26): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCY10_chr1_167804386_167919134 | 167850697 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02486.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001a0002c0001t0003 | a0001c0002t0001g0205 a0001c0002t0001g0206 a0002c0001t0001g0027 others(2): Show |
5 | 88 | 0.0568 | 12 | c.230 others(31): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 18/32 | chr1 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167853830 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01256.hp1 HG02109.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0001c0014others(6): Show | a0001c0004t0003a0001c0005t0002a0001c0014t0001others(6): Show | a0001c0004t0003g0268 a0001c0004t0003g0286 a0001c0005t0002g0241 others(9): Show |
12 | 111 | 0.1081 | 12 | c.230 others(29): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 18/32 | chr1 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167897997 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03516.hp2 HG03540.hp2 |
a0001a0002a0015 | a0001c0004a0002c0007a0015c0030 | a0001c0004t0003a0002c0007t0002a0015c0030t0002 | a0001c0004t0003g0286 a0002c0007t0002g0283 a0015c0030t0002g0282 |
3 | 81 | 0.0370 | 12 | c.643 others(29): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 6/32 | chr1 | TogoVar | |||||||
ADCY1_chr7_45569368_45728116 | 45574559 | C | CGCGGCGG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG00673.hp1 HG02155.hp2 NA18960.hp2 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002a0003c0004t0034 | a0003c0004t0001g0224 a0003c0004t0002g0134 a0003c0004t0034g0056 |
3 | 276 | 0.0109 | 12 | c.32_ others(17): Show |
p.Gly others(11): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 1/20 | 220/12657 | 44/3360 | 15/1119 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ADCY1_chr7_45569368_45728116 | 45641932 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02056.hp1 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0042others(1): Show | a0001c0001t0001g0102 a0001c0001t0002g0147 a0001c0001t0042g0073 others(1): Show |
4 | 23 | 0.1739 | 12 | c.102 others(31): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADCY1_chr7_45569368_45728116 | 45711644 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0054 | 1 | 187 | 0.0053 | 12 | c.305 others(29): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADCY1_chr7_45569368_45728116 | 45711644 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01168.hp1 HG01496.hp1 others(5): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0004a0001c0001t0006a0001c0001t0021others(3): Show | a0001c0001t0004g0068 a0001c0001t0004g0094 a0001c0001t0006g0060 others(5): Show |
8 | 194 | 0.0412 | 12 | c.305 others(29): 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(5): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00673.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(6): Show | a0001c0001t0002g0023 a0001c0001t0002g0064 a0001c0001t0002g0077 others(19): Show |
22 | 149 | 0.1477 | 12 | c.*11 others(25): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 2276 | chr7 | TogoVar |