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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS2_chr5_179105853_179350461 | 179150123 | C | CTCCTGT | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02145.hp1 others(14): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0052a0001c0074others(12): Show | a0001c0001t0013a0001c0052t0002a0001c0074t0004others(13): Show | a0001c0001t0013g0019 a0001c0052t0002g0148 a0001c0074t0004g0061 others(14): Show |
17 | 274 | 0.0620 | 6 | c.162 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179173212 | T | TTAATAA | intron_variant | MODIFIER | HG02486.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0104 | a0001c0001t0004a0002c0104t0027 | a0001c0001t0004g0066 a0002c0104t0027g0221 |
2 | 42 | 0.0476 | 6 | c.975 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 5/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179189510 | G | GCTTTTT | intron_variant | MODIFIER | HG03453.hp1 NA18906.hp2 NA19240.hp1 others(1): Show |
a0001a0002 | a0001c0065a0001c0068a0002c0039others(1): Show | a0001c0065t0002a0001c0068t0001a0002c0039t0002others(1): Show | a0001c0065t0002g0118 a0001c0068t0001g0021 a0002c0039t0002g0204 others(1): Show |
4 | 14 | 0.2857 | 6 | c.892 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179205757 | G | GTTATTA | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 HG01884.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0065others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(13): Show | a0001c0001t0001g0064 a0001c0001t0001g0115 a0001c0001t0004g0066 others(15): Show |
18 | 87 | 0.2069 | 6 | c.891 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179245765 | C | CAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG02486.hp2 HG02647.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0104a0002c0106others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0104t0027others(2): Show | a0001c0001t0001g0064 a0001c0001t0001g0115 a0001c0001t0004g0066 others(3): Show |
6 | 151 | 0.0397 | 6 | c.688 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179245787 | A | AAAAAAC | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG01934.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0014a0002c0003others(8): Show | a0001c0004t0004a0001c0014t0002a0002c0003t0001others(8): Show | a0001c0004t0004g0187 a0001c0014t0002g0131 a0002c0003t0001g0274 others(8): Show |
11 | 217 | 0.0507 | 6 | c.688 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179283942 | G | GATTATT | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG00735.hp1 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0014others(22): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(29): Show | a0001c0001t0001g0011 a0001c0001t0001g0068 a0001c0001t0004g0111 others(37): Show |
40 | 152 | 0.2632 | 6 | c.535 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179283945 | G | GATTATT | intron_variant | MODIFIER | HG03704.hp1 NA18986.hp2 NA19070.hp1 |
a0001a0003a0006 | a0001c0001a0003c0002a0006c0091 | a0001c0001t0004a0003c0002t0001a0006c0091t0002 | a0001c0001t0004g0027 a0003c0002t0001g0083 a0006c0091t0002g0219 |
3 | 94 | 0.0319 | 6 | c.535 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179326201 | C | CGTGTGT | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(57): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0022others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0011 a0001c0001t0001g0080 a0001c0001t0001g0096 others(57): Show |
60 | 163 | 0.3681 | 6 | c.534 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179326863 | A | AGGAGAG | intron_variant | MODIFIER | HG00408.hp1 HG02145.hp2 HG03669.hp1 others(5): Show |
a0001a0003a0006 | a0001c0046a0003c0043a0006c0038others(4): Show | a0001c0046t0002a0003c0043t0014a0006c0038t0002others(5): Show | a0001c0046t0002g0194 a0003c0043t0014g0193 a0006c0038t0002g0214 others(5): Show |
8 | 274 | 0.0292 | 6 | c.534 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72288923 | T | TACACAC | intron_variant | MODIFIER | HG00609.hp2 HG01106.hp2 HG01891.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0017a0002c0002t0001 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0055 others(14): Show |
17 | 53 | 0.3208 | 6 | c.293 others(21): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 20/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72299053 | C | CTGTGTG | intron_variant | MODIFIER | HG00639.hp1 HG02004.hp2 HG02622.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0001a0002c0002t0002 | a0001c0001t0002g0129 a0001c0003t0001g0123 a0002c0002t0002g0171 |
3 | 28 | 0.1071 | 6 | c.242 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 17/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72340316 | A | AGTGTGT | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp2 |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0022 a0002c0009t0001g0023 |
2 | 17 | 0.1176 | 6 | c.662 others(21): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72400186 | G | GTGTGTA | intron_variant | MODIFIER | HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0007 a0001c0004t0005g0008 |
2 | 179 | 0.0112 | 6 | c.661 others(25): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72470361 | T | TTATATA | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01071.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0029 others(31): Show |
34 | 91 | 0.3736 | 6 | c.505 others(25): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72526568 | T | TTGTGTG | intron_variant | MODIFIER | NA18962.hp2 NA18971.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 a0002c0002t0001g0068 |
2 | 177 | 0.0113 | 6 | c.504 others(25): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72526570 | A | ATGTGTG | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00639.hp1 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0021 others(43): Show |
46 | 56 | 0.8214 | 6 | c.504 others(25): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72530081 | T | TATTATA | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG02451.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0029 others(16): Show |
19 | 151 | 0.1258 | 6 | c.504 others(25): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATAT | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG01261.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0003a0003c0004others(3): Show | a0001c0002t0011a0001c0002t0187a0001c0002t0188others(13): Show | a0001c0002t0011g0007 a0001c0002t0187g0166 a0001c0002t0188g0174 others(13): Show |
23 | 85 | 0.2706 | 6 | c.*22 others(17): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26932706 | A | AAAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(85): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0032a0001c0034others(8): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(27): Show | a0001c0001t0003g0013 a0001c0001t0003g0031 a0001c0001t0003g0032 others(79): Show |
88 | 386 | 0.2280 | 6 | c.187 others(23): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 5/7 | chr21 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65162620 | T | TACACAC | intron_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG02451.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0118 a0001c0001t0001g0163 a0001c0001t0002g0009 others(16): Show |
19 | 47 | 0.4043 | 6 | c.324 others(25): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 24/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65216782 | T | TACACAC | intron_variant | MODIFIER | HG01175.hp2 HG01258.hp2 HG01261.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0178 others(9): Show |
12 | 62 | 0.1935 | 6 | c.227 others(25): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 18/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65309591 | T | TACACAC | intron_variant | MODIFIER | HG01243.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | 90 | 0.0222 | 6 | c.122 others(25): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65313128 | A | AACACAC | intron_variant | MODIFIER | HG02615.hp2 HG03195.hp2 HG03927.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0002others(1): Show | a0001c0001t0001g0176 a0001c0003t0001g0051 a0002c0004t0002g0159 others(1): Show |
4 | 57 | 0.0702 | 6 | c.122 others(27): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65332287 | G | GTATATA | intron_variant | MODIFIER | HG01071.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0112 a0001c0001t0010g0087 |
2 | 125 | 0.0160 | 6 | c.111 others(25): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 8/24 | chr5 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78758360 | G | GCTGGGC | downstream_gene_variant | MODIFIER | NA18940.hp2 NA18946.hp1 NA18953.hp1 others(6): Show |
a0011a0072 | a0011c0011a0072c0063 | a0011c0011t0001a0072c0063t0001 | a0011c0011t0001g0194 a0011c0011t0001g0203 a0011c0011t0001g0207 others(6): Show |
9 | 378 | 0.0238 | 6 | c.*10 others(17): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 845 | chr15 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130415603 | C | CTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00673.hp2 others(36): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0008a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0069 a0001c0001t0001g0095 others(24): Show |
39 | 155 | 0.2516 | 6 | c.126 others(23): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 4/8 | chr11 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00597.hp1 others(55): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(22): Show | a0001c0001t0001g0218 a0001c0001t0002g0065 a0001c0001t0002g0099 others(55): Show |
58 | 70 | 0.8286 | 6 | c.*6- others(19): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64542430 | C | CTTTCTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(109): Show |
a0001a0003a0007others(7): Show | a0001c0001a0001c0004a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(107): Show |
112 | 130 | 0.8615 | 6 | c.506 others(23): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 32/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64593961 | A | ATGTGTG | intron_variant | MODIFIER | HG00544.hp1 HG02523.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0001g0163 |
3 | 188 | 0.0160 | 6 | c.435 others(23): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64689107 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01261.hp2 others(18): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0067 a0001c0001t0002g0065 a0001c0004t0001g0276 others(18): Show |
21 | 68 | 0.3088 | 6 | c.-14 others(17): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 1108 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64692855 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00609.hp2 others(53): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0167 a0001c0001t0001g0181 a0001c0001t0001g0183 others(53): Show |
56 | 142 | 0.3944 | 6 | c.-51 others(17): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4856 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64692888 | A | ACACCCC | upstream_gene_variant | MODIFIER | HG02300.hp1 HG02523.hp1 HG02523.hp2 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0014t0001 | a0001c0001t0001g0105 a0001c0001t0002g0099 a0001c0001t0002g0187 others(1): Show |
4 | 217 | 0.0184 | 6 | c.-52 others(17): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4889 | chr3 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18503980 | A | ATGTGTG | intron_variant | MODIFIER | HG02717.hp2 HG03471.hp2 |
a0001a0002 | a0001c0057a0002c0079 | a0001c0057t0002a0002c0079t0003 | a0001c0057t0002g0001 a0002c0079t0003g0021 |
2 | 114 | 0.0175 | 6 | c.64- others(19): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18574595 | T | TTGTGTG | intron_variant | MODIFIER | HG01243.hp2 HG02976.hp1 HG03486.hp1 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0004a0001c0005t0014a0001c0007t0004 | a0001c0005t0004g0020 a0001c0005t0014g0018 a0001c0007t0004g0017 |
3 | 82 | 0.0366 | 6 | c.474 others(21): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18582863 | T | TAAAATA | intron_variant | MODIFIER | HG01074.hp1 HG03098.hp1 NA18522.hp1 others(2): Show |
a0001a0002a0003 | a0001c0005a0002c0004a0002c0018others(1): Show | a0001c0005t0002a0002c0004t0003a0002c0018t0003others(1): Show | a0001c0005t0002g0117 a0001c0005t0002g0149 a0002c0004t0003g0044 others(2): Show |
5 | 198 | 0.0253 | 6 | c.474 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18588884 | C | CATATAT | intron_variant | MODIFIER | HG01256.hp2 HG01358.hp2 HG02572.hp2 |
a0002a0006 | a0002c0001a0006c0014 | a0002c0001t0002a0006c0014t0003 | a0002c0001t0002g0203 a0006c0014t0003g0026 a0006c0014t0003g0027 |
3 | 192 | 0.0156 | 6 | c.474 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18588904 | C | CATATAT | intron_variant | MODIFIER | HG00733.hp1 HG02040.hp2 |
a0004a0014 | a0004c0015a0014c0046 | a0004c0015t0002a0014c0046t0002 | a0004c0015t0002g0201 a0014c0046t0002g0202 |
2 | 149 | 0.0134 | 6 | c.474 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18621556 | C | CCACACA | intron_variant | MODIFIER | HG01168.hp2 HG01175.hp2 HG01255.hp2 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0006others(9): Show | a0001c0002t0002a0001c0002t0003a0001c0003t0002others(11): Show | a0001c0002t0002g0131 a0001c0002t0003g0156 a0001c0003t0002g0184 others(11): Show |
14 | 63 | 0.2222 | 6 | c.475 others(21): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18626839 | T | TTCCTTC | intron_variant | MODIFIER | HG02723.hp2 HG03098.hp2 HG03486.hp2 |
a0001a0002a0020 | a0001c0005a0002c0034a0020c0081 | a0001c0005t0003a0002c0034t0003a0020c0081t0003 | a0001c0005t0003g0029 a0002c0034t0003g0122 a0020c0081t0003g0002 |
3 | 187 | 0.0160 | 6 | c.601 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18651910 | T | TTATATA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(20): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0006others(16): Show | a0001c0002t0002a0001c0003t0029a0001c0006t0001others(18): Show | a0001c0002t0002g0131 a0001c0003t0029g0025 a0001c0006t0001g0039 others(20): Show |
23 | 208 | 0.1106 | 6 | c.835 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18674198 | G | GCACACA | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0001others(1): Show | a0001c0003t0029a0001c0006t0005a0002c0001t0002others(2): Show | a0001c0003t0029g0025 a0001c0006t0005g0042 a0002c0001t0002g0190 others(2): Show |
5 | 155 | 0.0323 | 6 | c.108 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18674998 | G | GAGTAGT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp2 others(75): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0003a0001c0005others(41): Show | a0001c0002t0001a0001c0003t0015a0001c0005t0002others(59): Show | a0001c0002t0001g0125 a0001c0003t0015g0188 a0001c0005t0002g0117 others(75): Show |
78 | 216 | 0.3611 | 6 | c.108 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688118 | G | GTATATA | intron_variant | MODIFIER | HG03098.hp2 HG03130.hp1 HG03579.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0006a0002c0001a0005c0022others(1): Show | a0001c0006t0003a0001c0006t0005a0002c0001t0023others(2): Show | a0001c0006t0003g0129 a0001c0006t0005g0042 a0002c0001t0023g0016 others(2): Show |
5 | 95 | 0.0526 | 6 | c.157 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18696865 | A | ATATTAT | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01109.hp1 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0005others(8): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0002others(10): Show | a0001c0002t0001g0077 a0001c0002t0004g0091 a0001c0003t0002g0182 others(12): Show |
15 | 21 | 0.7143 | 6 | c.157 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18735743 | T | TTTTTTC | intron_variant | MODIFIER | HG01257.hp2 HG02897.hp2 HG02976.hp2 others(1): Show |
a0001a0002a0027 | a0001c0006a0001c0007a0002c0043others(1): Show | a0001c0006t0011a0001c0007t0031a0002c0043t0002others(1): Show | a0001c0006t0011g0047 a0001c0007t0031g0140 a0002c0043t0002g0159 others(1): Show |
4 | 162 | 0.0247 | 6 | c.200 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18737319 | C | CAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01109.hp1 others(17): Show |
a0001a0002a0006others(3): Show | a0001c0002a0001c0003a0001c0005others(12): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0003others(16): Show | a0001c0002t0001g0077 a0001c0002t0004g0080 a0001c0003t0003g0015 others(17): Show |
20 | 120 | 0.1667 | 6 | c.200 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18739899 | C | CTGTGTG | intron_variant | MODIFIER | HG01192.hp2 HG01433.hp1 HG02135.hp2 others(5): Show |
a0001a0002a0017others(1): Show | a0001c0002a0001c0003a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0003others(5): Show | a0001c0002t0001g0090 a0001c0002t0002g0128 a0001c0003t0003g0121 others(5): Show |
8 | 80 | 0.1000 | 6 | c.200 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18756076 | A | AATATAT | intron_variant | MODIFIER | HG02027.hp2 HG02129.hp1 NA18998.hp2 others(1): Show |
a0001a0002a0015 | a0001c0002a0001c0006a0002c0004others(1): Show | a0001c0002t0002a0001c0006t0002a0002c0004t0001others(1): Show | a0001c0002t0002g0063 a0001c0006t0002g0061 a0002c0004t0001g0059 others(1): Show |
4 | 13 | 0.3077 | 6 | c.221 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18800377 | C | CAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(19): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0003a0001c0005others(11): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0001others(17): Show | a0001c0002t0002g0108 a0001c0002t0004g0064 a0001c0003t0001g0146 others(19): Show |
22 | 101 | 0.2178 | 6 | c.380 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |