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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLPSL2_chr6_35771598_35784552 | 35775043 | A | AAAAACAA others(7): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0030 |
3 | 460 | 0.0065 | 14 | c.-15 others(25): Show |
CLPSL2 | ENSG00000196748.10 | transcript | ENST00000403376.4 | protein_coding | 1554 | chr6 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1342039 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 a0001c0001t0001g0325 |
2 | 370 | 0.0054 | 14 | c.264 others(29): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1342039 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 370 | 0.0027 | 14 | c.264 others(29): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1342040 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03688.hp2 HG04204.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0251 a0002c0003t0004g0252 a0002c0003t0004g0253 |
3 | 370 | 0.0081 | 14 | c.264 others(29): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
CLPTM1_chr19_44950380_44998341 | 44973761 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0204 | 1 | 374 | 0.0027 | 14 | c.309 others(29): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLPX_chr15_65143219_65190342 | 65160623 | T | TCTCTCAC others(7): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0026 | a0001c0001t0025g0168 a0001c0001t0026g0167 |
2 | 190 | 0.0105 | 14 | c.716 others(31): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 6/13 | chr15 | TogoVar | |||||||
CLPX_chr15_65143219_65190342 | 65168383 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0168 | 1 | 190 | 0.0053 | 14 | c.359 others(31): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 3/13 | chr15 | TogoVar | |||||||
CLRN1_chr3_150921567_150977727 | 150955959 | A | ATTTCCTA others(7): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 408 | 0.0025 | 14 | c.254 others(33): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
CLRN1_chr3_150921567_150977727 | 150969292 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03130.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0381 a0001c0003t0001g0382 |
2 | 408 | 0.0049 | 14 | c.253 others(31): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
CLRN2_chr4_17510165_17532104 | 17524204 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01261.hp2 HG01346.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0001g0064 others(1): Show |
6 | 442 | 0.0136 | 14 | c.433 others(31): Show |
CLRN2 | ENSG00000249581.2 | transcript | ENST00000511148.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CLRN2_chr4_17510165_17532104 | 17524235 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02486.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0001g0086 a0001c0001t0002g0107 |
3 | 442 | 0.0068 | 14 | c.433 others(31): Show |
CLRN2 | ENSG00000249581.2 | transcript | ENST00000511148.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CLSPN_chr1_35727112_35774978 | 35770470 | C | CACACACA others(7): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0023 | a0002c0023t0007 | a0002c0023t0007g0179 | 1 | 296 | 0.0034 | 14 | c.-60 others(23): Show |
CLSPN | ENSG00000092853.14 | transcript | ENST00000318121.8 | protein_coding | 493 | chr1 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 139953917 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01496.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0028 | a0001c0001t0011g0031 a0002c0002t0028g0005 |
2 | 110 | 0.0182 | 14 | c.109 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 139953931 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG01081.hp2 others(29): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0076 a0001c0001t0002g0033 a0001c0001t0005g0035 others(29): Show |
32 | 110 | 0.2909 | 14 | c.109 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 139955112 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01081.hp2 HG01109.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(9): Show | a0001c0001t0001g0069 a0001c0001t0002g0033 a0001c0001t0011g0031 others(11): Show |
14 | 110 | 0.1273 | 14 | c.109 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 139998336 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0045 a0001c0001t0002g0033 a0001c0001t0006g0040 others(4): Show |
7 | 110 | 0.0636 | 14 | c.109 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140137355 | C | CCAGCTTT others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG00735.hp2 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(50): Show | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0048 others(82): Show |
85 | 110 | 0.7727 | 14 | c.110 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140163419 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0043a0002c0002t0002 | a0001c0001t0043g0064 a0002c0002t0002g0086 |
2 | 110 | 0.0182 | 14 | c.110 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140211398 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01496.hp1 |
a0002a0003 | a0002c0007a0003c0011 | a0002c0007t0003a0003c0011t0002 | a0002c0007t0003g0015 a0003c0011t0002g0101 |
2 | 110 | 0.0182 | 14 | c.232 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140240134 | T | TTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0008 | a0005c0013t0008g0106 | 1 | 110 | 0.0091 | 14 | c.232 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140240172 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 110 | 0.0091 | 14 | c.232 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140240174 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0039 | 1 | 110 | 0.0091 | 14 | c.232 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140240174 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG04199.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0035a0002c0002t0001 | a0001c0001t0001g0019 a0001c0001t0035g0082 a0002c0002t0001g0066 |
3 | 110 | 0.0273 | 14 | c.232 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140240174 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0040 | a0002c0002t0040g0078 | 1 | 110 | 0.0091 | 14 | c.232 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140377022 | C | CACACAGA others(7): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0009 | a0001c0009t0022 | a0001c0009t0022g0049 | 1 | 110 | 0.0091 | 14 | c.233 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140377022 | C | CACAGAGA others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02145.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0014others(3): Show | a0001c0001t0043a0001c0006t0004a0001c0014t0032others(3): Show | a0001c0001t0043g0064 a0001c0006t0004g0098 a0001c0014t0032g0028 others(4): Show |
7 | 110 | 0.0636 | 14 | c.233 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140427197 | A | ATATGTGT others(7): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025 | 1 | 110 | 0.0091 | 14 | c.787 others(31): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140528636 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0016 | a0002c0016t0015 | a0002c0016t0015g0088 | 1 | 110 | 0.0091 | 14 | c.134 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN3_chr12_7125371_7163945 | 7137756 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 394 | 0.0025 | 14 | c.121 others(31): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLSTN3_chr12_7125371_7163945 | 7137795 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18949.hp1 |
a0001a0009 | a0001c0001a0009c0026 | a0001c0001t0001a0009c0026t0004 | a0001c0001t0001g0040 a0009c0026t0004g0234 |
2 | 394 | 0.0051 | 14 | c.121 others(31): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLSTN3_chr12_7125371_7163945 | 7137795 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03017.hp2 NA18956.hp1 NA18959.hp2 others(3): Show |
a0001a0012 | a0001c0001a0001c0018a0012c0014 | a0001c0001t0001a0001c0018t0001a0012c0014t0001 | a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 others(3): Show |
6 | 394 | 0.0152 | 14 | c.121 others(31): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLSTN3_chr12_7125371_7163945 | 7137795 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02074.hp2 HG02293.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 others(3): Show |
6 | 394 | 0.0152 | 14 | c.121 others(31): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLSTN3_chr12_7125371_7163945 | 7137795 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0090 |
2 | 394 | 0.0051 | 14 | c.121 others(31): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLSTN3_chr12_7125371_7163945 | 7138273 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0273 | 1 | 394 | 0.0025 | 14 | c.132 others(31): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLTA_chr9_36185921_36217059 | 36216327 | A | ATGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG02258.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0002g0012 |
4 | 400 | 0.0100 | 14 | c.*45 others(25): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 4269 | chr9 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19190596 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18951.hp2 NA18955.hp1 others(2): Show |
a0004a0008 | a0004c0006a0008c0010 | a0004c0006t0005a0008c0010t0005 | a0004c0006t0005g0018 a0004c0006t0005g0026 a0008c0010t0005g0009 others(2): Show |
5 | 346 | 0.0145 | 14 | c.432 others(31): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 27/32 | chr22 | TogoVar | |||||||
CLTRN_chrX_15622318_15669805 | 15640077 | T | TCTCTGGA others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 others(4): Show |
7 | 295 | 0.0237 | 14 | c.318 others(29): Show |
CLTRN | ENSG00000147003.7 | transcript | ENST00000380342.4 | protein_coding | 4/5 | chrX | TogoVar | |||||||
CLUAP1_chr16_3496004_3544048 | 3529684 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0287 | 1 | 382 | 0.0026 | 14 | c.929 others(29): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2693141 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG06807.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0079 a0001c0003t0001g0264 |
2 | 420 | 0.0048 | 14 | c.323 others(31): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 19/25 | chr17 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 623894 | T | TTAATACT others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 414 | 0.0024 | 14 | c.256 others(29): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 627015 | G | GAGAGAAA others(7): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02132.hp2 HG03490.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026 a0001c0001t0001g0088 a0001c0001t0001g0187 others(5): Show |
8 | 414 | 0.0193 | 14 | c.424 others(27): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 645107 | G | GTGCCTGG others(7): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02895.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0048 a0003c0005t0001g0125 |
2 | 414 | 0.0048 | 14 | c.139 others(29): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 645792 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0342 | 1 | 414 | 0.0024 | 14 | c.139 others(31): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 645810 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 414 | 0.0024 | 14 | c.139 others(31): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61357494 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0031 |
2 | 184 | 0.0109 | 14 | c.456 others(33): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123075325 | C | CTTTCTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 NA19030.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0056a0001c0001t0072 | a0001c0001t0017g0170 a0001c0001t0056g0048 a0001c0001t0072g0245 |
3 | 336 | 0.0089 | 14 | c.*11 others(27): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2401 | chr6 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99601833 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 218 | 0.0046 | 14 | c.-48 others(25): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 4856 | chr13 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99637962 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0095 | 1 | 218 | 0.0046 | 14 | c.62+ others(31): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99716169 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 218 | 0.0046 | 14 | c.63- others(31): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99754416 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 | 1 | 218 | 0.0046 | 14 | c.63- others(31): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |