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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASS4_chr20_56407260_56465382 | 56413672 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0181 a0001c0002t0002g0180 |
2 | 376 | 0.0053 | -10 | c.36+ others(25): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CASS4_chr20_56407260_56465382 | 56436336 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0245 | 1 | 376 | 0.0027 | -10 | c.37- others(23): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960679 | AAAATATA others(3): Show |
A | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 228 | 0.0044 | -10 | c.-43 others(21): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4025 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74960681 | AATATATA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 228 | 0.0044 | -10 | c.-43 others(21): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4023 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74960706 | ATATATAT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0088 a0001c0001t0031g0087 |
2 | 228 | 0.0088 | -10 | c.-42 others(21): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 3998 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74999601 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG03490.hp2 HG03492.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0045 | a0001c0001t0001g0002 a0001c0001t0001g0098 a0001c0001t0001g0100 others(3): Show |
6 | 228 | 0.0263 | -10 | c.114 others(27): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96680373 | AAAAAAAG others(3): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0025 | 1 | 358 | 0.0028 | -10 | c.138 others(27): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96722934 | GTTGTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0326 | 1 | 358 | 0.0028 | -10 | c.270 others(25): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96752551 | TAACCTCA others(3): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03516.hp2 |
a0001a0003 | a0001c0010a0003c0006 | a0001c0010t0002a0003c0006t0002 | a0001c0010t0002g0104 a0003c0006t0002g0254 |
2 | 358 | 0.0056 | -10 | c.152 others(29): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10638111 | CTTCCTTT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 NA18950.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0057a0001c0003t0056 | a0001c0001t0057g0073 a0001c0003t0056g0123 |
2 | 236 | 0.0085 | -10 | c.*82 others(19): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 21/21 | 821 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10666092 | TTGTGCCA others(3): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 236 | 0.0042 | -10 | c.17- others(23): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 4/20 | chr1 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43627673 | ATTTTGTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 392 | 0.0026 | -10 | c.*30 others(21): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 829 | chr15 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43627676 | TTGTGTGT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0142 | 1 | 392 | 0.0026 | -10 | c.*30 others(21): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 826 | chr15 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91578236 | GCCCCCCC others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG00741.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0068 a0001c0001t0001g0102 a0001c0001t0001g0248 others(15): Show |
18 | 271 | 0.0664 | -10 | c.*26 others(21): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 2461 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91587477 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01168.hp1 others(17): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0005c0011 | a0001c0002t0002a0002c0003t0002a0005c0011t0002 | a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0053 others(17): Show |
20 | 271 | 0.0738 | -10 | c.305 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 25/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91619861 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01074.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0018 others(34): Show |
37 | 271 | 0.1365 | -10 | c.226 others(29): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 19/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91649331 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(131): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(131): Show |
134 | 271 | 0.4945 | -10 | c.143 others(31): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91652670 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01167.hp2 others(65): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0035 others(65): Show |
68 | 271 | 0.2509 | -10 | c.143 others(29): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5715643 | TAAAAAAA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0021 | a0021c0045 | a0021c0045t0002 | a0021c0045t0002g0317 | 1 | 336 | 0.0030 | -10 | c.-50 others(21): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4993 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | CATATATA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG01074.hp1 others(23): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0016a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0045 a0001c0001t0001g0124 a0001c0001t0002g0107 others(23): Show |
26 | 336 | 0.0774 | -10 | c.-44 others(21): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5737536 | AAGACTCT others(3): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0138 | 1 | 336 | 0.0030 | -10 | c.459 others(25): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5739918 | TTAGAGAC others(3): Show |
T | intron_variant | MODIFIER | NA19089.hp2 | a0042 | a0042c0052 | a0042c0052t0001 | a0042c0052t0001g0240 | 1 | 336 | 0.0030 | -10 | c.573 others(25): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5741789 | GGGGGGGG others(3): Show |
G | intron_variant | MODIFIER | HG04115.hp2 HG04204.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 a0002c0002t0001g0182 |
2 | 336 | 0.0060 | -10 | c.573 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5742127 | TGCGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 336 | 0.0030 | -10 | c.574 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5742208 | GCATGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00621.hp1 others(104): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0041a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0020 others(104): Show |
107 | 336 | 0.3185 | -10 | c.574 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5745621 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033 a0001c0001t0002g0024 |
2 | 336 | 0.0060 | -10 | c.658 others(25): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5757599 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA18967.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0029 | 1 | 336 | 0.0030 | -10 | c.127 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5772214 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG02004.hp2 HG03710.hp1 others(3): Show |
a0001a0038a0042 | a0001c0001a0038c0053a0042c0052 | a0001c0001t0001a0038c0053t0003a0042c0052t0001 | a0001c0001t0001g0041 a0001c0001t0001g0101 a0001c0001t0001g0112 others(3): Show |
6 | 336 | 0.0179 | -10 | c.176 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5779062 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0022 | a0022c0043 | a0022c0043t0001 | a0022c0043t0001g0297 | 1 | 336 | 0.0030 | -10 | c.*38 others(19): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 329 | chr19 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244489450 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG03195.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0061 a0001c0003t0001g0197 a0001c0003t0001g0199 others(1): Show |
4 | 206 | 0.0194 | -10 | c.327 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244508831 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 206 | 0.0049 | -10 | c.430 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244509803 | GGTAGATT others(3): Show |
G | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0142 | 1 | 206 | 0.0049 | -10 | c.430 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | chr1 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244531235 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01978.hp1 HG02055.hp2 others(3): Show |
a0001 | a0001c0006a0001c0007 | a0001c0006t0002a0001c0006t0003a0001c0007t0001 | a0001c0006t0002g0084 a0001c0006t0002g0085 a0001c0006t0003g0150 others(3): Show |
6 | 206 | 0.0291 | -10 | c.536 others(29): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244557532 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp2 HG02809.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0009 | a0001c0001t0001a0002c0004t0002a0002c0004t0004others(1): Show | a0001c0001t0001g0012 a0002c0004t0002g0009 a0002c0004t0002g0017 others(2): Show |
5 | 206 | 0.0243 | -10 | c.103 others(29): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244582910 | GATATATA others(3): Show |
G | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 206 | 0.0049 | -10 | c.201 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244621041 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01496.hp1 HG01884.hp2 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0001others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0002t0003g0143 others(12): Show |
15 | 206 | 0.0728 | -10 | c.264 others(29): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244621315 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01934.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0051 a0001c0002t0002g0004 |
2 | 206 | 0.0097 | -10 | c.264 others(29): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38344808 | AGTACATA others(3): Show |
A | intron_variant | MODIFIER | HG01928.hp1 | a0010 | a0010c0028 | a0010c0028t0001 | a0010c0028t0001g0264 | 1 | 376 | 0.0027 | -10 | c.669 others(25): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38344874 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02273.hp1 NA18612.hp1 others(4): Show |
a0001 | a0001c0005a0001c0008 | a0001c0005t0001a0001c0008t0001 | a0001c0005t0001g0154 a0001c0005t0001g0168 a0001c0005t0001g0169 others(4): Show |
7 | 376 | 0.0186 | -10 | c.669 others(25): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38353027 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG03654.hp2 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0006 a0001c0007t0001g0197 a0001c0007t0001g0198 |
4 | 376 | 0.0106 | -10 | c.997 others(25): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38353990 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0357 a0001c0001t0001g0358 |
2 | 376 | 0.0053 | -10 | c.998 others(25): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAT_chr11_34433934_34477060 | 34466780 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 a0001c0001t0002g0144 |
2 | 424 | 0.0047 | -10 | c.132 others(29): Show |
CAT | ENSG00000121691.7 | transcript | ENST00000241052.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAT_chr11_34433934_34477060 | 34475997 | GTTTTTTT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 424 | 0.0024 | -10 | c.*45 others(21): Show |
CAT | ENSG00000121691.7 | transcript | ENST00000241052.5 | protein_coding | 3938 | chr11 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116533347 | ATAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 a0001c0001t0002g0167 |
2 | 342 | 0.0059 | -10 | c.195 others(27): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116533348 | TAAATAAA others(3): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01074.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 others(10): Show |
14 | 342 | 0.0409 | -10 | c.195 others(27): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555594 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 342 | 0.0029 | -10 | c.196 others(27): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV3_chr3_8728802_8751758 | 8746797 | TCTCACAC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 476 | 0.0021 | -10 | c.*93 others(19): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 40 | chr3 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42401695 | AAGAAAGA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 338 | 0.0030 | -10 | c.*29 others(21): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 753 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42401697 | GAAAGAAA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01074.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0042 others(16): Show |
19 | 338 | 0.0562 | -10 | c.*29 others(21): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 751 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42413566 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0298 | 1 | 338 | 0.0030 | -10 | c.472 others(27): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar |