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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTA1_chr1_229426245_229439094 | 229435460 | CCCTCTCT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 445 | 0.0022 | -17 | c.-14 others(28): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1367 | chr1 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88957142 | AAGCTACA others(10): Show |
A | upstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | -17 | c.-44 others(28): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 4370 | chr10 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673657 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(28): Show |
a0001 | a0001c0002a0001c0003a0001c0010others(4): Show | a0001c0002t0010a0001c0002t0027a0001c0002t0042others(8): Show | a0001c0002t0010g0005 a0001c0002t0010g0304 a0001c0002t0027g0303 others(27): Show |
31 | 312 | 0.0994 | -17 | c.162 others(36): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152778943 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00609.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0185 others(63): Show |
68 | 72 | 0.9444 | -17 | c.45- others(32): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152782118 | ATCGTAAA others(10): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 308 | 0.0032 | -17 | c.45- others(32): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169770639 | AATTTATA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 416 | 0.0024 | -17 | c.-11 others(28): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1079 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770666 | AATTTATA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 416 | 0.0024 | -17 | c.-11 others(28): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1106 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770693 | AATTTATA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 416 | 0.0024 | -17 | c.-11 others(28): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1133 | chr3 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG03098.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0036 a0001c0001t0004g0270 |
2 | 26 | 0.0769 | -17 | c.139 others(34): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157599314 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0207 others(32): Show |
35 | 73 | 0.4795 | -17 | c.74- others(34): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157851886 | CACACACA others(10): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03225.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0008others(1): Show | a0001c0001t0001g0082 a0001c0002t0001g0107 a0001c0004t0008g0110 others(2): Show |
5 | 172 | 0.0291 | -17 | c.-18 others(38): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863011 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01978.hp2 HG02698.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 |
3 | 10 | 0.3000 | -17 | c.-18 others(38): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51981894 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 44 | 0.0227 | -17 | c.-17 others(28): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1640 | chr3 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53967649 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 57 | 0.0175 | -17 | c.-37 others(28): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54197916 | TATTTTAT others(10): Show |
T | intron_variant | MODIFIER | HG03669.hp1 NA18961.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046 a0001c0002t0002g0062 |
2 | 220 | 0.0091 | -17 | c.404 others(36): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54202706 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0084 | 1 | 20 | 0.0500 | -17 | c.404 others(36): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02809.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0059a0001c0001t0076 | a0001c0001t0045g0088 a0001c0001t0045g0089 a0001c0001t0059g0290 others(1): Show |
4 | 8 | 0.5000 | -17 | c.*43 others(28): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4381 | chr15 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126067427 | GGCTGTGC others(10): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp1 |
a0002a0008 | a0002c0006a0008c0043 | a0002c0006t0007a0008c0043t0001 | a0002c0006t0007g0100 a0008c0043t0001g0251 |
2 | 250 | 0.0080 | -17 | c.132 others(34): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 12/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126113688 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02055.hp2 NA18747.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0002 | a0001c0002t0001g0144 a0001c0004t0002g0111 |
2 | 186 | 0.0108 | -17 | c.604 others(34): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ADAM19_chr5_157472304_157580775 | 157576239 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01928.hp2 HG01975.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0004 a0001c0001t0001g0166 a0002c0002t0002g0157 others(3): Show |
6 | 24 | 0.2500 | -17 | c.-56 others(26): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 465 | chr5 | TogoVar | |||||||
ADAM22_chr7_87929251_88207889 | 87944272 | GGCTGGTA others(10): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG02723.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0062 a0001c0001t0001g0079 a0003c0003t0001g0077 |
3 | 228 | 0.0132 | -17 | c.246 others(34): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206467060 | TCACCTCC others(10): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02896.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 |
3 | 356 | 0.0084 | -17 | c.433 others(36): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24336580 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02922.hp1 HG03195.hp1 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0006 a0005c0008t0002g0316 |
4 | 270 | 0.0148 | -17 | c.156 others(34): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 38996919 | CGCGCGCG others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01168.hp1 HG02109.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0062 a0001c0001t0001g0116 others(11): Show |
14 | 330 | 0.0424 | -17 | c.-14 others(26): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 53 | chr8 | TogoVar | |||||||
ADAM9_chr8_38991973_39110261 | 38996948 | CGTCGGGC others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 330 | 0.0030 | -17 | c.-11 others(25): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 24 | chr8 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70714946 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01081.hp1 others(13): Show |
a0001a0009a0012others(2): Show | a0001c0002a0001c0005a0001c0057others(8): Show | a0001c0002t0002a0001c0005t0010a0001c0057t0010others(8): Show | a0001c0002t0002g0251 a0001c0005t0010g0001 a0001c0005t0010g0108 others(12): Show |
16 | 180 | 0.0889 | -17 | c.870 others(34): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70764016 | CCTGTGAC others(10): Show |
C | downstream_gene_variant | MODIFIER | NA19087.hp1 | a0004 | a0004c0014 | a0004c0014t0004 | a0004c0014t0004g0203 | 1 | 352 | 0.0028 | -17 | c.*31 others(28): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1576 | chr10 | TogoVar | |||||||
ADAMTS15_chr11_130443645_130481645 | 130478741 | TAGAGGGA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02647.hp2 |
a0001 | a0001c0031a0001c0034 | a0001c0031t0016a0001c0034t0016 | a0001c0031t0016g0211 a0001c0034t0016g0227 |
2 | 396 | 0.0051 | -17 | c.*49 others(28): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 2097 | chr11 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977379 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0066 | 1 | 192 | 0.0052 | -17 | c.295 others(36): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977381 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02895.hp1 others(1): Show |
a0001a0002a0006 | a0001c0005a0002c0004a0002c0077others(1): Show | a0001c0005t0009a0002c0004t0017a0002c0077t0007others(1): Show | a0001c0005t0009g0030 a0002c0004t0017g0129 a0002c0077t0007g0184 others(1): Show |
4 | 204 | 0.0196 | -17 | c.295 others(36): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977383 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG02004.hp1 HG02293.hp2 others(4): Show |
a0001a0003a0005 | a0001c0005a0001c0007a0001c0010others(3): Show | a0001c0005t0011a0001c0007t0005a0001c0010t0007others(4): Show | a0001c0005t0011g0179 a0001c0007t0005g0137 a0001c0010t0007g0130 others(4): Show |
7 | 213 | 0.0329 | -17 | c.295 others(36): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100184262 | AAGACTGT others(10): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01071.hp1 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0007a0001c0010others(16): Show | a0001c0005t0002a0001c0007t0005a0001c0007t0023others(20): Show | a0001c0005t0002g0075 a0001c0007t0005g0137 a0001c0007t0023g0215 others(21): Show |
24 | 226 | 0.1062 | -17 | c.118 others(38): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00642.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0161 |
2 | 40 | 0.0500 | -17 | c.428 others(36): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179108219 | AGCTGGTC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp2 NA19011.hp2 |
a0005a0009 | a0005c0011a0009c0020 | a0005c0011t0003a0009c0020t0003 | a0005c0011t0003g0170 a0009c0020t0003g0124 |
2 | 274 | 0.0073 | -17 | c.*56 others(28): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2633 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179132590 | CCTGGCAC others(10): Show |
C | intron_variant | MODIFIER | NA18612.hp1 NA18945.hp2 |
a0002a0013 | a0002c0003a0013c0025 | a0002c0003t0001a0013c0025t0001 | a0002c0003t0001g0224 a0013c0025t0001g0097 |
2 | 274 | 0.0073 | -17 | c.220 others(34): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 14/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550044 | AGGAAGAG others(10): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0139 | 1 | 130 | 0.0077 | -17 | c.98- others(32): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS4_chr1_161179302_161204054 | 161183467 | ATTTTTTT others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18967.hp1 NA18971.hp1 NA18980.hp2 |
a0001 | a0001c0002 | a0001c0002t0052a0001c0002t0059a0001c0002t0178 | a0001c0002t0052g0038 a0001c0002t0059g0041 a0001c0002t0178g0180 |
3 | 89 | 0.0337 | -17 | c.*76 others(28): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 834 | chr1 | TogoVar | |||||||
ADAMTS5_chr21_26912922_26972088 | 26951679 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0103a0001c0005t0064 | a0001c0001t0103g0341 a0001c0005t0064g0081 |
2 | 86 | 0.0233 | -17 | c.123 others(36): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 2/7 | chr21 | TogoVar | |||||||
ADAMTS5_chr21_26912922_26972088 | 26963641 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01934.hp1 HG02109.hp1 others(6): Show |
a0001a0009a0010others(1): Show | a0001c0005a0009c0011a0010c0013others(1): Show | a0001c0005t0009a0009c0011t0010a0010c0013t0019others(2): Show | a0001c0005t0009g0051 a0009c0011t0010g0129 a0009c0011t0010g0130 others(6): Show |
9 | 18 | 0.5000 | -17 | c.110 others(36): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65275399 | GAAAGAAA others(10): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 202 | 0.0050 | -17 | c.151 others(36): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65332100 | ACTCAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0111 | 1 | 202 | 0.0050 | -17 | c.111 others(36): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 8/24 | chr5 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78806123 | CACACAAA others(10): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0224 | 1 | 356 | 0.0028 | -17 | c.100 others(34): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78806127 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18994.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0044 | 1 | 231 | 0.0043 | -17 | c.100 others(34): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130418332 | TATCCTAG others(10): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG02895.hp2 others(2): Show |
a0003a0010 | a0003c0002a0010c0020 | a0003c0002t0002a0003c0002t0007a0010c0020t0008 | a0003c0002t0002g0040 a0003c0002t0002g0247 a0003c0002t0007g0300 others(1): Show |
5 | 422 | 0.0118 | -17 | c.960 others(32): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18894001 | GAAGAAAT others(10): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0055 | a0001c0055t0002 | a0001c0055t0002g0209 | 1 | 216 | 0.0046 | -17 | c.485 others(36): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 26/28 | chr9 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83654968 | CGCCCGCG others(10): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0236 a0003c0003t0001g0237 |
2 | 272 | 0.0074 | -17 | c.-34 others(32): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83906615 | CCACACAC others(10): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02055.hp2 HG02257.hp1 others(11): Show |
a0002a0007a0013others(4): Show | a0002c0002a0007c0007a0013c0031others(4): Show | a0002c0002t0001a0007c0007t0001a0013c0031t0001others(4): Show | a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0054 others(11): Show |
14 | 88 | 0.1591 | -17 | c.170 others(36): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL4_chr1_150544408_150565933 | 150561418 | GGCGGGGC others(10): Show |
G | downstream_gene_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0059 | 1 | 438 | 0.0023 | -17 | c.*12 others(28): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 486 | chr1 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45124769 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | HG02970.hp1 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0037 a0001c0002t0008g0038 |
2 | 92 | 0.0217 | -17 | c.-21 others(36): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 1/10 | chr21 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45134235 | GGGTGTGT others(10): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0095 | a0001c0002t0008g0036 a0001c0003t0095g0039 |
2 | 67 | 0.0299 | -17 | c.-48 others(34): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |