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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLSTN2_chr3_139930185_140582397 | 140359993 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01081.hp1 others(23): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0056a0001c0001t0002g0033others(23): Show | 26 | 110 | 0.2364 | -8 | c.233 others(27): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140419613 | ACGTGTAC others(1): Show |
A | intron_variant | MODIFIER | HG03098.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0010 | a0001c0001t0001g0045a0001c0009t0010g0110 | 2 | 110 | 0.0182 | -8 | c.638 others(25): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140419849 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG03098.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0010 | a0001c0001t0001g0045a0001c0009t0010g0110 | 2 | 110 | 0.0182 | -8 | c.638 others(25): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140422189 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01081.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(21): Show | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0005g0026others(30): Show | 33 | 110 | 0.3000 | -8 | c.787 others(23): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140490117 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02135.hp2 HG02723.hp2 HG03688.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0042a0002c0002t0001a0002c0004t0017 | a0001c0001t0042g0011a0002c0002t0001g0022a0002c0004t0017g0061 | 3 | 110 | 0.0273 | -8 | c.134 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN3_chr12_7125371_7163945 | 7148156 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(79): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0003a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(68): Show | 82 | 394 | 0.2081 | -8 | c.184 others(25): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CLTC_chr17_59614895_59701956 | 59617114 | TTATATAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01256.hp1 HG01258.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0105a0001c0001t0002g0001a0001c0001t0003g0005others(14): Show | 18 | 260 | 0.0692 | -8 | c.-30 others(19): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 2780 | chr17 | TogoVar | ||||||
CLTRN_chrX_15622318_15669805 | 15630363 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0043others(17): Show | 21 | 295 | 0.0712 | -8 | c.513 others(25): Show |
CLTRN | ENSG00000147003.7 | transcript | ENST00000380342.4 | protein_coding | 5/5 | chrX | TogoVar | ||||||
CLTRN_chrX_15622318_15669805 | 15659513 | TTTAGTGT others(1): Show |
T | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 295 | 0.0034 | -8 | c.118 others(23): Show |
CLTRN | ENSG00000147003.7 | transcript | ENST00000380342.4 | protein_coding | 2/5 | chrX | TogoVar | ||||||
CLTRN_chrX_15622318_15669805 | 15667238 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(202): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(174): Show | 205 | 295 | 0.6949 | -8 | c.-24 others(19): Show |
CLTRN | ENSG00000147003.7 | transcript | ENST00000380342.4 | protein_coding | 2434 | chrX | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3507680 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02602.hp1 HG02622.hp1 others(10): Show |
a0001a0005a0006 | a0001c0004a0005c0006a0006c0007 | a0001c0004t0007a0005c0006t0007a0005c0006t0013others(1): Show | a0001c0004t0007g0007a0001c0004t0007g0011a0005c0006t0007g0051others(6): Show | 13 | 382 | 0.0340 | -8 | c.220 others(23): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLUH_chr17_2684387_2716764 | 2685622 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02155.hp1 HG03195.hp1 others(6): Show |
a0001a0011 | a0001c0001a0001c0010a0001c0029others(1): Show | a0001c0001t0001a0001c0010t0003a0001c0029t0011others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0170a0001c0001t0001g0171others(6): Show | 9 | 420 | 0.0214 | -8 | c.*49 others(19): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 3764 | chr17 | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2693397 | GAAACAAA others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp2 HG02040.hp1 others(6): Show |
a0001 | a0001c0004a0001c0014 | a0001c0004t0001a0001c0004t0004a0001c0014t0001 | a0001c0004t0001g0041a0001c0004t0001g0306a0001c0004t0001g0307others(5): Show | 9 | 420 | 0.0214 | -8 | c.323 others(25): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 19/25 | chr17 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 614317 | GGGAGGGA others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114a0001c0001t0003g0115a0001c0001t0003g0139 | 3 | 414 | 0.0073 | -8 | c.-13 others(25): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLUL1_chr18_591988_655182 | 627006 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0117a0001c0001t0004g0070a0001c0001t0004g0310 | 3 | 414 | 0.0073 | -8 | c.424 others(21): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLUL1_chr18_591988_655182 | 630672 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01070.hp1 others(56): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0047a0001c0001t0001g0072others(55): Show | 59 | 414 | 0.1425 | -8 | c.857 others(25): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLUL1_chr18_591988_655182 | 646493 | GATAGACA others(1): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0223a0001c0001t0001g0389a0001c0004t0001g0281 | 3 | 414 | 0.0073 | -8 | c.139 others(27): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLUL1_chr18_591988_655182 | 646497 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(129): Show |
a0001a0004a0005 | a0001c0001a0001c0008a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0016others(127): Show | 132 | 414 | 0.3188 | -8 | c.139 others(27): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLU_chr8_27591917_27619700 | 27596824 | CGGGGGGC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02040.hp1 HG02080.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0029a0001c0001t0003g0061others(6): Show | 21 | 458 | 0.0459 | -8 | c.*14 others(19): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 92 | chr8 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61345630 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0007a0001c0001t0004g0001a0001c0001t0006g0006others(2): Show | 5 | 184 | 0.0272 | -8 | c.456 others(27): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61347626 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG01433.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0092others(6): Show | 9 | 184 | 0.0489 | -8 | c.456 others(27): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61360440 | CCAATCAA others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01993.hp1 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0047a0001c0001t0001g0062a0001c0001t0001g0094others(4): Show | 7 | 184 | 0.0380 | -8 | c.456 others(27): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61365768 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0044a0001c0001t0001g0081others(5): Show | 8 | 184 | 0.0435 | -8 | c.456 others(27): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61416282 | ATAGCTAG others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01884.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0044a0001c0001t0001g0071a0001c0001t0001g0072others(19): Show | 22 | 184 | 0.1196 | -8 | c.631 others(27): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61416301 | GCTAGATA others(1): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG02027.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0002a0001c0001t0002g0131a0001c0001t0002g0172others(1): Show | 4 | 184 | 0.0217 | -8 | c.631 others(27): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61416305 | GATACATA others(1): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02451.hp2 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0087others(6): Show | 9 | 184 | 0.0489 | -8 | c.631 others(27): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61435543 | CATTTTAA others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp2 HG01192.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0015a0001c0001t0001g0086a0001c0001t0001g0096others(35): Show | 38 | 184 | 0.2065 | -8 | c.631 others(27): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61455178 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095a0001c0001t0002g0179 | 2 | 184 | 0.0109 | -8 | c.741 others(23): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS2_chr6_122991235_123077925 | 122998892 | TGTCAGTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00639.hp1 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0002g0253a0001c0001t0005g0003a0001c0001t0005g0004others(56): Show | 71 | 336 | 0.2113 | -8 | c.389 others(23): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CLVS2_chr6_122991235_123077925 | 123075281 | TTTTCTTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00733.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0085a0001c0001t0002g0024a0001c0001t0002g0026others(32): Show | 35 | 336 | 0.1042 | -8 | c.*11 others(21): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2357 | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123075401 | CCCTTCCT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG03098.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0038 | a0001c0001t0032g0277a0001c0001t0032g0283a0001c0001t0038g0094others(1): Show | 4 | 336 | 0.0119 | -8 | c.*11 others(21): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2477 | chr6 | TogoVar | ||||||
CLXN_chr8_48718391_48740268 | 48726112 | CTCCATCC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0017 | a0001c0001t0001g0043a0001c0001t0001g0075a0001c0001t0001g0081others(3): Show | 7 | 394 | 0.0178 | -8 | c.577 others(25): Show |
CLXN | ENSG00000034239.11 | transcript | ENST00000262103.8 | protein_coding | 5/5 | chr8 | TogoVar | ||||||
CLXN_chr8_48718391_48740268 | 48726870 | AATCTATC others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG01891.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0013others(17): Show | 46 | 394 | 0.1168 | -8 | c.577 others(25): Show |
CLXN | ENSG00000034239.11 | transcript | ENST00000262103.8 | protein_coding | 5/5 | chr8 | TogoVar | ||||||
CLXN_chr8_48718391_48740268 | 48727214 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01106.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0022a0001c0001t0001g0036others(16): Show | 33 | 394 | 0.0838 | -8 | c.576 others(25): Show |
CLXN | ENSG00000034239.11 | transcript | ENST00000262103.8 | protein_coding | 5/5 | chr8 | TogoVar | ||||||
CLXN_chr8_48718391_48740268 | 48737448 | AATCTATC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01975.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0014 | 3 | 394 | 0.0076 | -8 | c.-23 others(19): Show |
CLXN | ENSG00000034239.11 | transcript | ENST00000262103.8 | protein_coding | 2181 | chr8 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99620800 | GAGAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG02273.hp1 HG03490.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0138a0002c0002t0001g0152a0003c0003t0001g0149 | 3 | 218 | 0.0138 | -8 | c.62+ others(25): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99676186 | GTCCTTCC others(1): Show |
G | intron_variant | MODIFIER | HG03098.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0069 | 2 | 218 | 0.0092 | -8 | c.62+ others(25): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99701658 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01433.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0051a0001c0001t0001g0114a0001c0001t0001g0115others(2): Show | 5 | 218 | 0.0229 | -8 | c.63- others(25): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99716169 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01433.hp1 HG01891.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0051others(4): Show | 7 | 218 | 0.0321 | -8 | c.63- others(25): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99717436 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01981.hp2 HG02280.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0055a0001c0001t0001g0057a0001c0001t0001g0064others(4): Show | 7 | 218 | 0.0321 | -8 | c.63- others(25): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99728275 | CTTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0099a0001c0001t0001g0103a0001c0001t0001g0126others(31): Show | 34 | 218 | 0.1560 | -8 | c.63- others(25): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99771020 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0062a0001c0001t0001g0063others(6): Show | 9 | 218 | 0.0413 | -8 | c.63- others(23): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99784447 | CTCTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(54): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(54): Show | 57 | 218 | 0.2615 | -8 | c.249 others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99819416 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02056.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0059a0001c0001t0001g0060others(2): Show | 5 | 218 | 0.0229 | -8 | c.250 others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CMA1_chr14_24500353_24513265 | 24505245 | CACACACA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 10 | 432 | 0.0232 | -8 | c.*26 others(17): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 107 | chr14 | TogoVar | ||||||
CMAS_chr12_22041218_22070668 | 22042417 | TTTGCATT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(160): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0018others(92): Show | 163 | 450 | 0.3622 | -8 | c.-38 others(19): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 3800 | chr12 | TogoVar | ||||||
CMAS_chr12_22041218_22070668 | 22057232 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG01891.hp1 HG02015.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0196a0001c0002t0001g0159a0001c0002t0001g0234others(1): Show | 4 | 450 | 0.0089 | -8 | c.560 others(25): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CMAS_chr12_22041218_22070668 | 22060333 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02040.hp2 HG02056.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0020a0001c0001t0001g0021others(20): Show | 40 | 450 | 0.0889 | -8 | c.694 others(23): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CMC1_chr3_28236619_28330142 | 28258060 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0170a0001c0001t0001g0171others(82): Show | 86 | 338 | 0.2544 | -8 | c.20- others(23): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMC1_chr3_28236619_28330142 | 28300641 | CTCCCTCC others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0003g0025a0001c0001t0003g0027a0001c0001t0006g0090others(20): Show | 23 | 338 | 0.0681 | -8 | c.110 others(27): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |