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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATATTT others(6): Show |
3_prime_UTR_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0253 | a0001c0001t0253g0183 | 1 | 372 | 0.0027 | 13 | c.*48 others(24): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCIN_chr7_12565720_12665182 | 12657573 | T | TATATATA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG01517.hp1 NA18945.hp1 NA19010.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0125a0001c0001t0135a0001c0001t0138others(3): Show | a0001c0001t0125g0163 a0001c0001t0135g0031 a0001c0001t0138g0075 others(3): Show |
6 | 372 | 0.0161 | 13 | c.*48 others(24): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | chr7 | TogoVar | ||||||
SCLT1_chr4_128878993_129098539 | 128975040 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00738.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0001g0213 a0001c0002t0001g0034 a0001c0002t0001g0036 others(49): Show |
52 | 288 | 0.1806 | 13 | c.687 others(30): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 9/20 | chr4 | TogoVar | |||||||
SCLT1_chr4_128878993_129098539 | 129053557 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0279 | 1 | 288 | 0.0035 | 13 | c.103 others(30): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41058378 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01515.hp1 HG01517.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0235 a0001c0001t0004g0266 a0001c0001t0004g0281 others(5): Show |
8 | 304 | 0.0263 | 13 | c.110 others(32): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 10/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41089787 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01106.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(28): Show |
31 | 304 | 0.1020 | 13 | c.746 others(32): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41114587 | A | ATTTATCT others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG03098.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0013g0221 |
3 | 304 | 0.0099 | 13 | c.502 others(30): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 7/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41244447 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01109.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0006 | a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 others(9): Show |
12 | 304 | 0.0395 | 13 | c.-25 others(24): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 2142 | chr1 | TogoVar | |||||||
SCML1_chrX_17732493_17759985 | 17735304 | T | TTAAGCCG others(6): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 281 | 0.0036 | 13 | c.-24 others(24): Show |
SCML1 | ENSG00000047634.15 | transcript | ENST00000380041.8 | protein_coding | 2188 | chrX | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107751649 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0102 | 1 | 250 | 0.0040 | 13 | c.157 others(30): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778220 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0127 | 1 | 250 | 0.0040 | 13 | c.-59 others(30): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0130 | 1 | 250 | 0.0040 | 13 | c.-59 others(30): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0012 | a0001c0001t0006g0122 a0001c0003t0012g0132 |
2 | 250 | 0.0080 | 13 | c.-59 others(30): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03471.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0010a0001c0003t0012 | a0001c0002t0010g0148 a0001c0003t0012g0131 |
2 | 250 | 0.0080 | 13 | c.-59 others(30): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02818.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0109 a0001c0008t0001g0003 |
2 | 250 | 0.0080 | 13 | c.-59 others(30): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38736963 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01515.hp2 HG03471.hp1 others(2): Show |
a0001a0011 | a0001c0005a0001c0007a0011c0028 | a0001c0005t0002a0001c0007t0001a0011c0028t0001 | a0001c0005t0002g0161 a0001c0005t0002g0336 a0001c0007t0001g0037 others(2): Show |
5 | 372 | 0.0134 | 13 | c.228 others(32): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165303270 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 NA19011.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0331 |
3 | 358 | 0.0084 | 13 | c.387 others(30): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165350460 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 358 | 0.0028 | 13 | c.292 others(32): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165350464 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01358.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 a0001c0001t0002g0197 a0001c0001t0002g0266 others(6): Show |
9 | 358 | 0.0251 | 13 | c.292 others(32): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165392742 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01071.hp1 others(22): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0001t0002g0057 others(22): Show |
25 | 358 | 0.0698 | 13 | c.*29 others(24): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 439 | chr2 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555105 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 a0001c0002t0001g0300 |
2 | 340 | 0.0059 | 13 | c.454 others(30): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555105 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02895.hp1 HG02896.hp1 |
a0001a0006 | a0001c0001a0006c0024 | a0001c0001t0002a0006c0024t0001 | a0001c0001t0002g0033 a0006c0024t0001g0001 |
3 | 340 | 0.0088 | 13 | c.454 others(30): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555106 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 NA18982.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0289 a0001c0004t0001g0097 |
2 | 340 | 0.0059 | 13 | c.454 others(30): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51780565 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0137 | 1 | 202 | 0.0050 | 13 | c.382 others(28): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166199975 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02523.hp1 others(5): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0004a0004c0008others(2): Show | a0001c0001t0001a0001c0004t0001a0004c0008t0011others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0069 a0001c0004t0001g0136 others(4): Show |
8 | 296 | 0.0270 | 13 | c.477 others(30): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 26/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166242256 | T | TGATTATA others(6): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18959.hp2 NA18984.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0003t0001others(1): Show | a0001c0001t0001g0062 a0001c0001t0015g0149 a0001c0003t0001g0209 others(2): Show |
5 | 296 | 0.0169 | 13 | c.362 others(30): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 19/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166255108 | A | AAGAGAGA others(6): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0029 | a0002c0029t0004 | a0002c0029t0004g0046 | 1 | 296 | 0.0034 | 13 | c.335 others(32): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166297196 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0006others(4): Show | a0001c0002a0001c0004a0001c0005others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(16): Show | a0001c0002t0001g0123 a0001c0002t0001g0175 a0001c0002t0001g0195 others(33): Show |
36 | 296 | 0.1216 | 13 | c.902 others(30): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 7/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166311377 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0074 | a0002c0074t0004 | a0002c0074t0004g0294 | 1 | 296 | 0.0034 | 13 | c.258 others(28): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23346200 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01993.hp1 HG06807.hp1 NA18965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0145 others(2): Show |
5 | 306 | 0.0163 | 13 | c.-8- others(28): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23180597 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01516.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0004t0001 | a0001c0001t0001g0070 a0001c0001t0006g0121 a0001c0004t0001g0047 others(1): Show |
4 | 320 | 0.0125 | 13 | c.-22 others(24): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 2147 | chr16 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23193069 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0009 | a0001c0009t0017 | a0001c0009t0017g0223 | 1 | 320 | 0.0031 | 13 | c.809 others(28): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52987007 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18971.hp1 NA18973.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 a0001c0002t0002g0109 a0001c0002t0002g0260 |
3 | 280 | 0.0107 | 13 | c.974 others(30): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 10/15 | chr1 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52999815 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02083.hp1 HG04204.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0097 a0001c0002t0002g0102 a0001c0002t0002g0104 others(9): Show |
12 | 280 | 0.0429 | 13 | c.108 others(34): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 53037922 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0140 | 1 | 280 | 0.0036 | 13 | c.133 others(30): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCRG1_chr4_173379701_173404116 | 173399491 | T | TGTGTGTG others(6): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0032 | 1 | 380 | 0.0026 | 13 | c.-43 others(22): Show |
SCRG1 | ENSG00000164106.8 | transcript | ENST00000296506.8 | protein_coding | 376 | chr4 | TogoVar | |||||||
SCRIB_chr8_143785925_143820773 | 143789080 | A | AGGTGCTG others(6): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0187 | 1 | 387 | 0.0026 | 13 | c.*20 others(24): Show |
SCRIB | ENSG00000180900.20 | transcript | ENST00000356994.7 | protein_coding | 1844 | chr8 | TogoVar | |||||||
SCRN1_chr7_29915109_29994801 | 29932651 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03491.hp1 NA18522.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0006a0003c0003t0009 | a0002c0002t0006g0223 a0002c0002t0006g0224 a0003c0003t0009g0079 |
3 | 274 | 0.0110 | 13 | c.905 others(30): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
SCRN1_chr7_29915109_29994801 | 29994369 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00741.hp1 others(48): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0013others(9): Show | a0001c0001t0003g0003 a0001c0001t0003g0233 a0001c0001t0003g0239 others(46): Show |
51 | 274 | 0.1861 | 13 | c.-47 others(24): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 4569 | chr7 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119437470 | C | CATCAGAT others(6): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 290 | 0.0035 | 13 | c.*26 others(24): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 2372 | chr2 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43192633 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01346.hp2 |
a0001a0004 | a0001c0042a0004c0050 | a0001c0042t0071a0004c0050t0072 | a0001c0042t0071g0151 a0004c0050t0072g0247 |
2 | 280 | 0.0071 | 13 | c.*11 others(26): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4646 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43258026 | A | AGAAGCCT others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0204 | 1 | 280 | 0.0036 | 13 | c.727 others(28): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 6/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43273561 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01109.hp2 HG02257.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0018a0002c0002others(3): Show | a0001c0004t0016a0001c0004t0037a0001c0018t0008others(4): Show | a0001c0004t0016g0008 a0001c0004t0037g0249 a0001c0018t0008g0257 others(6): Show |
9 | 280 | 0.0321 | 13 | c.485 others(32): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43319558 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0009 | a0002c0009t0025 | a0002c0009t0025g0259 | 1 | 280 | 0.0036 | 13 | c.349 others(28): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 3/21 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18944.hp1 NA19078.hp2 |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0008 | a0001c0002t0010a0002c0001t0004a0003c0008t0011 | a0001c0002t0010g0068 a0002c0001t0004g0318 a0003c0008t0011g0194 |
3 | 358 | 0.0084 | 13 | c.120 others(30): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0250 | 1 | 358 | 0.0028 | 13 | c.120 others(30): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18612.hp2 NA19057.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0003 | a0001c0002t0001g0045 a0001c0002t0001g0067 a0002c0001t0003g0326 |
3 | 358 | 0.0084 | 13 | c.120 others(30): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9090492 | T | TATTTATT others(6): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02155.hp2 NA18960.hp2 |
a0002a0009 | a0002c0001a0009c0016 | a0002c0001t0004a0009c0016t0007 | a0002c0001t0004g0339 a0009c0016t0007g0216 a0009c0016t0007g0217 |
3 | 358 | 0.0084 | 13 | c.134 others(28): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 1/22 | chr11 | TogoVar | |||||||
SCX_chr8_144261453_144273481 | 144268758 | A | AACAACAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 440 | 0.0023 | 13 | c.*61 others(22): Show |
SCX | ENSG00000260428.3 | transcript | ENST00000567180.3 | protein_coding | 278 | chr8 | TogoVar | |||||||
SCYL1_chr11_65520083_65543704 | 65540740 | G | GGGGCCTA others(6): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 278 | 0.0036 | 13 | c.*21 others(24): Show |
SCYL1 | ENSG00000142186.18 | transcript | ENST00000270176.10 | protein_coding | 2037 | chr11 | TogoVar |