regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASZ1_chr1_10631604_10801646 | 10740960 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0077a0001c0001t0001g0082a0001c0001t0001g0091others(76): Show | 79 | 236 | 0.3348 | 8 | c.-77 others(27): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10768205 | C | CGTTTGTT others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG06807.hp1 NA18522.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0031 | a0001c0002t0025a0001c0009t0002a0001c0009t0017others(1): Show | a0001c0002t0025g0141a0001c0009t0002g0049a0001c0009t0017g0142others(1): Show | 4 | 236 | 0.0170 | 8 | c.-23 others(27): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
CATIP_chr2_218351857_218373094 | 218357259 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02451.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0034a0001c0001t0001g0035others(12): Show | 20 | 366 | 0.0546 | 8 | c.118 others(22): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CATIP_chr2_218351857_218373094 | 218359341 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02055.hp1 HG02148.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0060a0001c0001t0001g0074others(3): Show | 7 | 366 | 0.0191 | 8 | c.376 others(25): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CATIP_chr2_218351857_218373094 | 218360139 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01099.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025a0001c0002t0001g0027a0001c0002t0001g0079others(4): Show | 9 | 366 | 0.0246 | 8 | c.376 others(23): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CATSPER1_chr11_66011752_66031479 | 66027488 | A | ATTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(209): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0024a0001c0028others(13): Show | a0001c0001t0001a0001c0024t0001a0001c0028t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(60): Show | 212 | 408 | 0.5196 | 8 | c.-11 others(19): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1010 | chr11 | TogoVar | ||||||
CATSPER2_chr15_43623503_43653844 | 43627676 | T | TTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02523.hp2 HG02572.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0001c0001t0017a0003c0003t0008 | a0001c0001t0006g0012a0001c0001t0017g0084a0003c0003t0008g0022 | 5 | 392 | 0.0128 | 8 | c.*30 others(19): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 826 | chr15 | TogoVar | ||||||
CATSPER2_chr15_43623503_43653844 | 43638286 | C | CTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(55): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012a0002c0002t0023 | a0002c0002t0002g0004a0002c0002t0002g0007a0002c0002t0002g0014others(29): Show | 58 | 392 | 0.1480 | 8 | c.842 others(23): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91586571 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03209.hp1 HG03516.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0065a0001c0001t0001g0074a0001c0001t0001g0087others(9): Show | 12 | 271 | 0.0443 | 8 | c.313 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91612012 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01074.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0030a0001c0001t0001g0051others(31): Show | 34 | 271 | 0.1255 | 8 | c.240 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91619861 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18939.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0109a0001c0002t0002g0258 | 2 | 271 | 0.0074 | 8 | c.226 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 19/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91640388 | T | TCCCCCCT others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02809.hp2 HG03688.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0086a0001c0001t0001g0191a0001c0001t0001g0264others(2): Show | 5 | 271 | 0.0185 | 8 | c.143 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91650689 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00735.hp1 others(189): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(189): Show | 192 | 271 | 0.7085 | 8 | c.143 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91661524 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01168.hp1 HG01169.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0018others(35): Show | 38 | 271 | 0.1402 | 8 | c.128 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 14/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91702675 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01074.hp1 others(25): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0068others(25): Show | 28 | 271 | 0.1033 | 8 | c.616 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 7/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91709524 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02135.hp2 HG02300.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0152a0001c0001t0004g0003others(7): Show | 10 | 271 | 0.0369 | 8 | c.371 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 5/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91736501 | A | AAAGGAAG others(1): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG03486.hp1 NA18522.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0002a0003c0004t0001 | a0001c0002t0001g0024a0001c0002t0002g0022a0003c0004t0001g0025 | 3 | 271 | 0.0111 | 8 | c.-45 others(19): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4416 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91736526 | A | AAGGAAGG others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01928.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0167a0001c0001t0001g0169a0001c0001t0001g0170others(18): Show | 21 | 271 | 0.0775 | 8 | c.-45 others(19): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4441 | chr14 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | C | CATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01169.hp2 HG02027.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0170a0001c0001t0001g0175a0002c0002t0001g0184others(7): Show | 10 | 336 | 0.0298 | 8 | c.-44 others(19): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5730561 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01346.hp1 HG01952.hp2 others(34): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0034a0001c0040others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0034t0001others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0021others(34): Show | 37 | 336 | 0.1101 | 8 | c.276 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5731560 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01071.hp1 HG01071.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0038a0001c0001t0001g0039others(28): Show | 31 | 336 | 0.0923 | 8 | c.276 others(25): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5733335 | C | CTTTCCTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG03486.hp2 |
a0001a0018a0027 | a0001c0045a0018c0020a0027c0036 | a0001c0045t0001a0018c0020t0001a0027c0036t0001 | a0001c0045t0001g0151a0018c0020t0001g0018a0027c0036t0001g0297 | 3 | 336 | 0.0089 | 8 | c.277 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5743606 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02257.hp1 HG02572.hp1 others(16): Show |
a0001a0004a0006others(9): Show | a0001c0001a0004c0003a0006c0007others(9): Show | a0001c0001t0001a0004c0003t0003a0006c0007t0001others(10): Show | a0001c0001t0001g0001a0004c0003t0003g0071a0006c0007t0001g0025others(16): Show | 19 | 336 | 0.0566 | 8 | c.574 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5763847 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01071.hp1 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0040a0002c0002others(6): Show | a0001c0001t0001a0001c0040t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0006a0001c0001t0001g0038a0001c0001t0001g0051others(24): Show | 27 | 336 | 0.0804 | 8 | c.150 others(25): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5768320 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02109.hp2 HG02145.hp2 others(20): Show |
a0001a0003a0005others(7): Show | a0001c0001a0003c0004a0005c0006others(7): Show | a0001c0001t0001a0003c0004t0001a0005c0006t0001others(7): Show | a0001c0001t0001g0020a0001c0001t0001g0055a0001c0001t0001g0060others(20): Show | 23 | 336 | 0.0685 | 8 | c.163 others(24): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244516335 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG02895.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0003a0001c0007t0001g0144a0001c0007t0001g0146 | 3 | 206 | 0.0146 | 8 | c.430 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244528785 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02055.hp1 HG03927.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0003a0005c0008t0003 | a0001c0001t0001g0053a0001c0001t0001g0086a0001c0001t0003g0156others(1): Show | 4 | 206 | 0.0194 | 8 | c.536 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244528787 | A | ACGCACGC others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0031a0001c0003t0001g0089 | 2 | 206 | 0.0097 | 8 | c.536 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244553602 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01109.hp1 HG01433.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0092a0001c0001t0001g0125a0001c0001t0001g0128others(13): Show | 16 | 206 | 0.0777 | 8 | c.102 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244557532 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01978.hp1 HG02148.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0090a0001c0001t0001g0119a0001c0001t0002g0002others(14): Show | 17 | 206 | 0.0825 | 8 | c.103 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244578823 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0020a0001c0001t0001g0021others(49): Show | 52 | 206 | 0.2524 | 8 | c.195 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244578843 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18945.hp2 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0053a0001c0001t0001g0063a0001c0001t0001g0064others(1): Show | 4 | 206 | 0.0194 | 8 | c.195 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244621041 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | NA19002.hp2 NA19030.hp2 NA19054.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0002 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0013t0002g0019 | 3 | 206 | 0.0146 | 8 | c.264 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244623058 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(94): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0020others(94): Show | 97 | 206 | 0.4709 | 8 | c.264 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244624128 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02922.hp2 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0094a0001c0001t0003g0182a0001c0003t0001g0044others(2): Show | 5 | 206 | 0.0243 | 8 | c.264 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERG_chr19_38330830_38375943 | 38342216 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01081.hp1 others(5): Show |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0001a0002c0003t0001 | a0001c0005t0001g0003a0001c0005t0001g0161a0001c0005t0001g0162others(4): Show | 8 | 376 | 0.0213 | 8 | c.325 others(25): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERG_chr19_38330830_38375943 | 38357515 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(123): Show |
a0001a0002a0006others(2): Show | a0001c0005a0001c0007a0001c0008others(9): Show | a0001c0005t0001a0001c0007t0001a0001c0008t0001others(9): Show | a0001c0005t0001g0003a0001c0005t0001g0004a0001c0005t0001g0005others(119): Show | 126 | 376 | 0.3351 | 8 | c.131 others(25): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAT_chr11_34433934_34477060 | 34466780 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01071.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009a0001c0002t0001g0175a0001c0002t0001g0176others(3): Show | 10 | 424 | 0.0236 | 8 | c.132 others(27): Show |
CAT | ENSG00000121691.7 | transcript | ENST00000241052.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555518 | A | AAGAAAGA others(1): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18522.hp2 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0059others(1): Show | 5 | 342 | 0.0146 | 8 | c.196 others(25): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555619 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02683.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0092a0001c0001t0005g0099a0001c0001t0005g0105others(1): Show | 4 | 342 | 0.0117 | 8 | c.196 others(25): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116561711 | T | TGATAGAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01069.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0116a0001c0001t0001g0142a0001c0001t0001g0157others(8): Show | 12 | 342 | 0.0351 | 8 | c.*24 others(19): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 533 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116562832 | A | AAAGAAAG others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0036a0001c0001t0006g0013a0001c0001t0006g0014others(3): Show | 6 | 342 | 0.0175 | 8 | c.*35 others(19): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1654 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116562940 | G | GAGGAAGG others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0020others(83): Show | 89 | 342 | 0.2602 | 8 | c.*36 others(19): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1762 | chr7 | TogoVar | ||||||
CAV2_chr7_116494738_116513541 | 116498910 | C | CCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02257.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0005g0018a0001c0001t0007g0006 | 4 | 374 | 0.0107 | 8 | c.-87 others(17): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 827 | chr7 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42401668 | G | GGAAAGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01433.hp2 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058a0001c0001t0003g0059a0001c0001t0003g0076 | 3 | 338 | 0.0089 | 8 | c.*30 others(19): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 780 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42419882 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02258.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0063a0001c0001t0003g0053a0001c0001t0003g0062others(2): Show | 5 | 338 | 0.0148 | 8 | c.471 others(25): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33529743 | T | TTTTATAT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02155.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0007a0001c0006t0007 | a0001c0001t0004g0038a0001c0001t0004g0058a0001c0001t0007g0010others(1): Show | 4 | 298 | 0.0134 | 8 | c.34+ others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33545439 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02015.hp2 HG02280.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0195a0001c0001t0001g0236a0001c0001t0001g0237others(7): Show | 10 | 298 | 0.0336 | 8 | c.34+ others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33547687 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03453.hp1 HG03831.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0045 | a0001c0001t0001g0241a0001c0001t0007g0010a0001c0002t0045g0216 | 3 | 298 | 0.0101 | 8 | c.34+ others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33550608 | G | GTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0003g0089a0001c0001t0003g0096a0001c0001t0003g0107others(28): Show | 31 | 298 | 0.1040 | 8 | c.35- others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |