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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS12_chr5_33518535_33896990 | 33584793 | TTAGTCTA others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0007 | a0004c0007t0014 | a0004c0007t0014g0113 | 1 | 222 | 0.0045 | -12 | c.286 others(31): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 18/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33627503 | GGTGGTGG others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0116 | 1 | 222 | 0.0045 | -12 | c.202 others(31): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 13/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33645144 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02896.hp2 HG02897.hp1 others(5): Show |
a0001a0007a0012others(1): Show | a0001c0001a0001c0018a0007c0010others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(4): Show | a0001c0001t0003g0198 a0001c0001t0004g0058 a0001c0001t0015g0045 others(5): Show |
8 | 31 | 0.2581 | -12 | c.148 others(31): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 9/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33672087 | ACACATCC others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0218 | 1 | 222 | 0.0045 | -12 | c.916 others(31): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 5/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33733998 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG01891.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0017others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0114 a0001c0001t0003g0108 a0001c0001t0004g0080 others(5): Show |
8 | 26 | 0.3077 | -12 | c.634 others(31): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33760879 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01361.hp2 HG01884.hp2 others(25): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0036others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0059 a0001c0001t0001g0060 others(25): Show |
28 | 56 | 0.5000 | -12 | c.490 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33770815 | CCTTCCTC others(5): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0026 | a0026c0054 | a0026c0054t0007 | a0026c0054t0007g0174 | 1 | 222 | 0.0045 | -12 | c.490 others(31): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827710 | AATAGATA others(5): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01261.hp2 others(12): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0003t0019others(9): Show | a0001c0001t0001g0210 a0001c0001t0009g0201 a0001c0003t0019g0111 others(12): Show |
15 | 61 | 0.2459 | -12 | c.489 others(31): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33835949 | CTCTCTGT others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0198 a0001c0001t0015g0045 a0001c0001t0015g0046 |
3 | 218 | 0.0138 | -12 | c.489 others(31): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33835953 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0031 | a0031c0060 | a0031c0060t0005 | a0031c0060t0005g0220 | 1 | 183 | 0.0055 | -12 | c.489 others(31): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70671100 | TCTCTCTC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01243.hp1 others(5): Show |
a0001a0003a0006others(1): Show | a0001c0021a0003c0016a0003c0028others(2): Show | a0001c0021t0016a0003c0016t0012a0003c0028t0007others(2): Show | a0001c0021t0016g0345 a0003c0016t0012g0050 a0003c0028t0007g0046 others(5): Show |
8 | 337 | 0.0237 | -12 | c.-17 others(23): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1405 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70671102 | TCTCTCTC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(17): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0005a0001c0007others(9): Show | a0001c0002t0007a0001c0005t0026a0001c0007t0037others(11): Show | a0001c0002t0007g0053 a0001c0002t0007g0054 a0001c0002t0007g0055 others(17): Show |
20 | 326 | 0.0613 | -12 | c.-17 others(23): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1403 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70684582 | CTGTAAAG others(5): Show |
C | intron_variant | MODIFIER | NA19056.hp2 | a0008 | a0008c0011 | a0008c0011t0005 | a0008c0011t0005g0081 | 1 | 352 | 0.0028 | -12 | c.522 others(29): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70688843 | CGGAGGGG others(5): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0037 | a0002c0037t0001 | a0002c0037t0001g0242 | 1 | 313 | 0.0032 | -12 | c.523 others(31): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70688892 | GGAGGGAG others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp2 others(46): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0005others(14): Show | a0001c0002t0002a0001c0004t0003a0001c0005t0010others(18): Show | a0001c0002t0002g0148 a0001c0002t0002g0221 a0001c0002t0002g0223 others(41): Show |
49 | 219 | 0.2237 | -12 | c.523 others(31): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70719367 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(21): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0007a0001c0018others(13): Show | a0001c0002t0013a0001c0002t0034a0001c0007t0037others(16): Show | a0001c0002t0013g0337 a0001c0002t0034g0218 a0001c0007t0037g0071 others(21): Show |
24 | 74 | 0.3243 | -12 | c.871 others(29): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70765724 | GGAAAGCA others(5): Show |
G | downstream_gene_variant | MODIFIER | NA18997.hp2 | a0007 | a0007c0059 | a0007c0059t0001 | a0007c0059t0001g0262 | 1 | 352 | 0.0028 | -12 | c.*48 others(23): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 3284 | chr10 | TogoVar | |||||||
ADAMTS15_chr11_130443645_130481645 | 130470174 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 390 | 0.0026 | -12 | c.172 others(29): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5151678 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00642.hp1 others(130): Show |
a0001a0002a0004others(17): Show | a0001c0001a0001c0010a0001c0022others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 others(129): Show |
133 | 136 | 0.9779 | -12 | c.501 others(29): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5208220 | GAGCCAGA others(5): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG03041.hp1 |
a0004 | a0004c0009a0004c0020 | a0004c0009t0015a0004c0020t0001 | a0004c0009t0015g0140 a0004c0020t0001g0102 |
2 | 330 | 0.0061 | -12 | c.145 others(29): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 9/22 | chr5 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5215870 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 NA19000.hp1 |
a0003a0006a0009 | a0003c0018a0006c0008a0009c0019 | a0003c0018t0018a0006c0008t0001a0009c0019t0001 | a0003c0018t0018g0239 a0006c0008t0001g0008 a0009c0019t0001g0268 |
3 | 84 | 0.0357 | -12 | c.160 others(31): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5224223 | TCTACTAG others(5): Show |
T | intron_variant | MODIFIER | NA18939.hp1 | a0003 | a0003c0016 | a0003c0016t0004 | a0003c0016t0004g0149 | 1 | 330 | 0.0030 | -12 | c.170 others(31): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5226977 | GGACCTCT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(93): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0010a0001c0023others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(62): Show | a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0048 others(93): Show |
96 | 330 | 0.2909 | -12 | c.170 others(31): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5227505 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp2 others(50): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0010a0001c0036others(21): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(43): Show | a0001c0001t0002g0010 a0001c0001t0002g0061 a0001c0001t0005g0086 others(50): Show |
53 | 63 | 0.8413 | -12 | c.170 others(31): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5237544 | TCTCCAAG others(5): Show |
T | intron_variant | MODIFIER | NA19083.hp1 | a0015 | a0015c0035 | a0015c0035t0003 | a0015c0035t0003g0259 | 1 | 330 | 0.0030 | -12 | c.215 others(29): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5265985 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp2 NA18982.hp1 NA18994.hp1 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0003a0002c0002t0028a0004c0004t0007others(1): Show | a0001c0001t0003g0093 a0002c0002t0028g0204 a0004c0004t0007g0136 others(1): Show |
4 | 30 | 0.1333 | -12 | c.278 others(31): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977389 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0071 | 1 | 221 | 0.0045 | -12 | c.295 others(31): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977390 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0159 | 1 | 219 | 0.0046 | -12 | c.295 others(31): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100037417 | TTTCTTCT others(5): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01167.hp2 HG01169.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0038a0002c0001others(10): Show | a0001c0005t0002a0001c0038t0008a0002c0001t0013others(12): Show | a0001c0005t0002g0139 a0001c0038t0008g0192 a0002c0001t0013g0019 others(13): Show |
16 | 223 | 0.0717 | -12 | c.259 others(33): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100169901 | TCCGGGGC others(5): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0007 | a0007c0023 | a0007c0023t0001 | a0007c0023t0001g0072 | 1 | 226 | 0.0044 | -12 | c.118 others(33): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100211099 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG02717.hp1 HG02896.hp2 others(4): Show |
a0001a0002a0003 | a0001c0005a0001c0018a0001c0045others(3): Show | a0001c0005t0005a0001c0018t0010a0001c0045t0008others(3): Show | a0001c0005t0005g0104 a0001c0018t0010g0006 a0001c0018t0010g0007 others(4): Show |
7 | 107 | 0.0654 | -12 | c.107 others(33): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100211526 | CAGAGGAA others(5): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0021 | a0001c0021t0016 | a0001c0021t0016g0113 | 1 | 226 | 0.0044 | -12 | c.107 others(33): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100289527 | CACATACA others(5): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03669.hp2 |
a0001a0005 | a0001c0021a0005c0020 | a0001c0021t0004a0005c0020t0004 | a0001c0021t0004g0219 a0005c0020t0004g0220 a0005c0020t0004g0221 |
3 | 226 | 0.0133 | -12 | c.617 others(29): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 3/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77285983 | CTTCTGCT others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 |
a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0005 a0002c0007t0005g0177 |
2 | 324 | 0.0062 | -12 | c.355 others(31): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 22/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01928.hp2 HG01975.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 a0001c0001t0002g0263 a0001c0001t0002g0265 |
3 | 58 | 0.0517 | -12 | c.253 others(31): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77364745 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0031 | a0031c0047 | a0031c0047t0005 | a0031c0047t0005g0162 | 1 | 324 | 0.0031 | -12 | c.779 others(27): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77371218 | TAAAAACA others(5): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02055.hp1 others(18): Show |
a0004a0012a0019others(3): Show | a0004c0003a0004c0033a0012c0012others(4): Show | a0004c0003t0005a0004c0003t0011a0004c0003t0033others(6): Show | a0004c0003t0005g0007 a0004c0003t0005g0008 a0004c0003t0005g0043 others(18): Show |
21 | 225 | 0.0933 | -12 | c.496 others(29): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77400444 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0003 | a0004c0003t0005 | a0004c0003t0005g0043 | 1 | 324 | 0.0031 | -12 | c.495 others(31): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77404019 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | NA18971.hp1 | a0010 | a0010c0013 | a0010c0013t0006 | a0010c0013t0006g0166 | 1 | 324 | 0.0031 | -12 | c.495 others(31): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77436037 | TGTGTGTG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01981.hp1 NA19030.hp2 |
a0002a0004 | a0002c0006a0004c0003 | a0002c0006t0003a0004c0003t0050 | a0002c0006t0003g0187 a0004c0003t0050g0321 |
2 | 324 | 0.0062 | -12 | c.-13 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 1004 | chr16 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129459190 | CGTGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02896.hp2 others(3): Show |
a0001a0004 | a0001c0007a0004c0008 | a0001c0007t0002a0001c0007t0004a0004c0008t0008others(1): Show | a0001c0007t0002g0013 a0001c0007t0004g0011 a0001c0007t0004g0012 others(3): Show |
6 | 61 | 0.0984 | -12 | c.-12 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 1107 | chr5 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129461451 | GCCGCCGC others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG02280.hp1 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0045 | 1 | 224 | 0.0045 | -12 | c.446 others(19): Show |
p.Pro others(13): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 540/5201 | 446/3642 | 149/1213 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
ADAMTS19_chr5_129455298_129743683 | 129504872 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 16 | 0.0625 | -12 | c.748 others(29): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129549910 | ATATGTAT others(5): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG03453.hp1 |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0011 a0001c0007t0004g0012 |
2 | 224 | 0.0089 | -12 | c.132 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129561819 | ACTATCTA others(5): Show |
A | intron_variant | MODIFIER | NA18955.hp1 NA18977.hp2 NA19063.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0006 a0002c0002t0002g0061 a0002c0002t0002g0085 others(1): Show |
4 | 94 | 0.0426 | -12 | c.137 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129578079 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 214 | 0.0047 | -12 | c.137 others(33): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129638559 | TCTCACAC others(5): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0095 | 1 | 224 | 0.0045 | -12 | c.177 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129638564 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00639.hp2 others(35): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 others(34): Show |
38 | 224 | 0.1696 | -12 | c.177 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129658309 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01123.hp1 HG01243.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0118 a0001c0001t0001g0141 others(11): Show |
14 | 96 | 0.1458 | -12 | c.230 others(29): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02922.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001 | a0001c0001t0009g0040 a0002c0002t0001g0110 |
2 | 143 | 0.0140 | -12 | c.316 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |