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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM32_chr8_39102734_39289917 | 39206404 | GGGCCTGT others(11): Show |
G | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 255 | 0.0039 | -18 | c.105 others(37): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 11/24 | chr8 | TogoVar | |||||||
ADAM7_chr8_24436026_24514565 | 24447937 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01361.hp1 others(9): Show |
a0001a0016 | a0001c0001a0016c0021 | a0001c0001t0001a0001c0001t0002a0016c0021t0008 | a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0001g0052 others(8): Show |
12 | 74 | 0.1622 | -18 | c.233 others(33): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33521396 | AATATATA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00621.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0003t0004others(6): Show | a0001c0001t0003g0047 a0001c0001t0003g0136 a0001c0001t0005g0012 others(9): Show |
12 | 36 | 0.3333 | -18 | c.*57 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2138 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33580435 | TCCCATGA others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01081.hp2 others(30): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0003a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(24): Show | a0001c0001t0001g0021 a0001c0001t0001g0068 a0001c0001t0001g0070 others(30): Show |
33 | 222 | 0.1486 | -18 | c.286 others(37): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 18/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33713381 | GTTTTAAC others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(180): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0003a0001c0008others(54): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(81): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0025 others(180): Show |
183 | 222 | 0.8243 | -18 | c.635 others(37): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33835947 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02523.hp2 HG02683.hp1 others(13): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0027others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0027t0004others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(13): Show |
16 | 222 | 0.0721 | -18 | c.489 others(37): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70671100 | TCTCTCTC others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02559.hp2 others(4): Show |
a0001a0015 | a0001c0007a0001c0038a0001c0058others(4): Show | a0001c0007t0013a0001c0038t0043a0001c0058t0045others(4): Show | a0001c0007t0013g0343 a0001c0038t0043g0338 a0001c0058t0045g0341 others(4): Show |
7 | 336 | 0.0208 | -18 | c.-17 others(29): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1405 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70719367 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0189 | 1 | 51 | 0.0196 | -18 | c.871 others(35): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5212196 | TTTGTTTT others(11): Show |
T | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 328 | 0.0030 | -18 | c.160 others(37): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5305104 | TCCCACAC others(11): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01167.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0030a0001c0031others(4): Show | a0001c0001t0002a0001c0001t0014a0001c0030t0003others(9): Show | a0001c0001t0002g0010 a0001c0001t0014g0323 a0001c0030t0003g0064 others(11): Show |
14 | 330 | 0.0424 | -18 | c.318 others(37): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977383 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01106.hp2 others(9): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0005a0001c0007others(7): Show | a0001c0002t0004a0001c0002t0009a0001c0005t0012others(9): Show | a0001c0002t0004g0148 a0001c0002t0009g0028 a0001c0005t0012g0211 others(9): Show |
12 | 218 | 0.0550 | -18 | c.295 others(37): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977384 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03579.hp2 HG03688.hp1 |
a0002a0006 | a0002c0001a0002c0072a0006c0016 | a0002c0001t0012a0002c0072t0050a0006c0016t0012 | a0002c0001t0012g0079 a0002c0072t0050g0183 a0006c0016t0012g0201 |
3 | 221 | 0.0136 | -18 | c.295 others(37): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977392 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0025 | a0001c0025t0008 | a0001c0025t0008g0208 | 1 | 219 | 0.0046 | -18 | c.295 others(37): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100253352 | AGGGAGGG others(11): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG02071.hp2 HG03098.hp2 others(1): Show |
a0001a0005a0006 | a0001c0021a0005c0020a0005c0036others(1): Show | a0001c0021t0004a0005c0020t0004a0005c0036t0002others(1): Show | a0001c0021t0004g0219 a0005c0020t0004g0220 a0005c0036t0002g0140 others(1): Show |
4 | 182 | 0.0220 | -18 | c.107 others(35): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77314769 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01258.hp1 HG02698.hp2 others(2): Show |
a0005 | a0005c0004a0005c0052 | a0005c0004t0001a0005c0052t0041 | a0005c0004t0001g0156 a0005c0004t0001g0221 a0005c0004t0001g0224 others(2): Show |
5 | 324 | 0.0154 | -18 | c.253 others(37): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77436031 | TGTGTGTG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(29): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0025a0001c0035others(16): Show | a0001c0001t0002a0001c0025t0004a0001c0035t0020others(18): Show | a0001c0001t0002g0001 a0001c0001t0002g0263 a0001c0001t0002g0265 others(28): Show |
32 | 282 | 0.1135 | -18 | c.-13 others(29): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 998 | chr16 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129638561 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02896.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0007a0001c0007t0004 | a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0007g0030 others(1): Show |
4 | 220 | 0.0182 | -18 | c.177 others(37): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129658327 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | NA19000.hp2 NA19081.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0213 a0001c0003t0001g0214 |
2 | 167 | 0.0120 | -18 | c.230 others(35): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129675927 | CTGAGGCA others(11): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0054 | 1 | 224 | 0.0045 | -18 | c.250 others(37): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129733944 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02074.hp2 NA18972.hp1 NA19065.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 a0001c0001t0001g0183 a0001c0001t0001g0219 others(1): Show |
4 | 10 | 0.4000 | -18 | c.331 others(35): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43356339 | TCCATTAT others(11): Show |
T | intron_variant | MODIFIER | NA18968.hp1 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0007 | 1 | 304 | 0.0033 | -18 | c.564 others(35): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 38/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43405416 | TCTAATAA others(11): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 NA18940.hp2 others(16): Show |
a0001a0002 | a0001c0009a0002c0004a0002c0027 | a0001c0009t0001a0002c0004t0001a0002c0004t0002others(1): Show | a0001c0009t0001g0171 a0002c0004t0001g0015 a0002c0004t0001g0251 others(16): Show |
19 | 300 | 0.0633 | -18 | c.428 others(37): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179264933 | CGCGCTGA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(51): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0018others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0002others(30): Show | a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0001g0096 others(51): Show |
54 | 274 | 0.1971 | -18 | c.688 others(35): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277725 | CCGAGACC others(11): Show |
C | intron_variant | MODIFIER | NA18971.hp2 | a0006 | a0006c0088 | a0006c0088t0003 | a0006c0088t0003g0215 | 1 | 272 | 0.0037 | -18 | c.535 others(35): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277863 | CCCTGAGA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02148.hp1 |
a0001a0004 | a0001c0018a0004c0019 | a0001c0018t0002a0004c0019t0003 | a0001c0018t0002g0176 a0004c0019t0003g0159 |
2 | 271 | 0.0074 | -18 | c.535 others(35): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72373899 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01167.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0050 others(18): Show |
21 | 71 | 0.2958 | -18 | c.662 others(37): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72526733 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0008 | a0008c0014 | a0008c0014t0007 | a0008c0014t0007g0012 | 1 | 18 | 0.0556 | -18 | c.504 others(37): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550039 | AGAAGAGG others(11): Show |
A | intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 164 | 0.0061 | -18 | c.98- others(33): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS4_chr1_161179302_161204054 | 161183467 | ATTTTTTT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(97): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0009a0001c0001t0058a0001c0001t0152others(59): Show | a0001c0001t0009g0130 a0001c0001t0058g0129 a0001c0001t0152g0116 others(70): Show |
100 | 186 | 0.5376 | -18 | c.*76 others(29): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 834 | chr1 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65288308 | CTTTTCTT others(11): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 202 | 0.0050 | -18 | c.151 others(37): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78806113 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0010 | a0010c0113 | a0010c0113t0003 | a0010c0113t0003g0113 | 1 | 377 | 0.0027 | -18 | c.100 others(35): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78806121 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00621.hp2 NA18946.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0006 a0001c0006t0001g0033 a0001c0006t0001g0034 |
4 | 343 | 0.0117 | -18 | c.100 others(35): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78806123 | CACACAAA others(11): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp2 HG01258.hp1 others(1): Show |
a0001a0039 | a0001c0006a0039c0086 | a0001c0006t0001a0039c0086t0001 | a0001c0006t0001g0032 a0001c0006t0001g0037 a0001c0006t0001g0041 others(1): Show |
4 | 359 | 0.0111 | -18 | c.100 others(35): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78806125 | CACAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA18980.hp2 NA18992.hp1 NA18999.hp1 others(2): Show |
a0009a0018 | a0009c0009a0018c0042 | a0009c0009t0001a0018c0042t0001 | a0009c0009t0001g0035 a0009c0009t0001g0042 a0009c0009t0001g0043 others(2): Show |
5 | 327 | 0.0153 | -18 | c.100 others(35): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18621556 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(60): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0005others(32): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(50): Show | a0001c0002t0001g0052 a0001c0002t0002g0063 a0001c0002t0002g0066 others(60): Show |
63 | 112 | 0.5625 | -18 | c.475 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18756076 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG02109.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0003a0001c0003t0003a0001c0003t0013others(7): Show | a0001c0002t0003g0156 a0001c0003t0003g0164 a0001c0003t0013g0212 others(7): Show |
10 | 19 | 0.5263 | -18 | c.221 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18886164 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG01517.hp1 | a0006 | a0006c0073 | a0006c0073t0008 | a0006c0073t0008g0071 | 1 | 103 | 0.0097 | -18 | c.425 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18886195 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0060 | a0007c0060t0001 | a0007c0060t0001g0048 | 1 | 216 | 0.0046 | -18 | c.425 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133533163 | CTGTGTGT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0109 | 1 | 59 | 0.0169 | -18 | c.-19 others(29): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 1540 | chr9 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133563826 | AGAGAGAG others(11): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0090 | 1 | 150 | 0.0067 | -18 | c.174 others(37): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133563904 | GGAGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0054 | 1 | 125 | 0.0080 | -18 | c.174 others(37): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133563920 | AGAGAGAG others(11): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 146 | 0.0068 | -18 | c.174 others(37): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133564541 | GGAGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0151 a0002c0002t0003g0152 |
2 | 149 | 0.0134 | -18 | c.174 others(37): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83801678 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp2 others(38): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(12): Show | a0001c0001t0001a0001c0015t0001a0002c0002t0001others(12): Show | a0001c0001t0001g0264 a0001c0015t0001g0122 a0002c0002t0001g0255 others(38): Show |
41 | 272 | 0.1507 | -18 | c.318 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83823879 | CCTTCTTC others(11): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG03130.hp2 HG03492.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0137 a0002c0002t0001g0156 a0002c0002t0001g0255 others(1): Show |
4 | 236 | 0.0169 | -18 | c.600 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83823893 | CTCTTCTT others(11): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG01258.hp2 others(3): Show |
a0001a0007a0008others(2): Show | a0001c0001a0007c0007a0008c0011others(2): Show | a0001c0001t0001a0007c0007t0001a0008c0011t0001others(2): Show | a0001c0001t0001g0103 a0007c0007t0001g0001 a0008c0011t0001g0005 others(3): Show |
6 | 130 | 0.0462 | -18 | c.600 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83823957 | TCTTCTTC others(11): Show |
T | intron_variant | MODIFIER | HG00735.hp1 NA19057.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0268 a0004c0004t0001g0269 |
2 | 272 | 0.0074 | -18 | c.600 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83906622 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01433.hp2 HG02056.hp1 others(16): Show |
a0003a0009 | a0003c0003a0009c0009 | a0003c0003t0001a0009c0009t0009 | a0003c0003t0001g0025 a0003c0003t0001g0128 a0003c0003t0001g0143 others(16): Show |
19 | 227 | 0.0837 | -18 | c.170 others(37): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL5_chr19_1500022_1518019 | 1508151 | GGGGCAGG others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01884.hp2 others(10): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0118 a0001c0001t0002g0076 a0001c0001t0005g0028 others(8): Show |
13 | 350 | 0.0371 | -18 | c.490 others(31): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 6/11 | chr19 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1508159 | ACCTGGGG others(11): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02486.hp1 others(15): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0002g0034 others(15): Show |
18 | 348 | 0.0517 | -18 | c.490 others(31): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 6/11 | chr19 | TogoVar |