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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCHIP1_chr3_159268244_159902359 | 159842997 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02622.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0035 others(3): Show |
6 | 100 | 0.0600 | 11 | c.760 others(30): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159843001 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG01978.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0037 others(3): Show |
6 | 100 | 0.0600 | 11 | c.760 others(30): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12578909 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0131 | a0002c0002t0131g0278 | 1 | 372 | 0.0027 | 11 | c.354 others(26): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12635611 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG02080.hp2 others(11): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0008others(1): Show | a0001c0001t0005a0001c0001t0016a0001c0001t0019others(11): Show | a0001c0001t0005g0152 a0001c0001t0016g0160 a0001c0001t0019g0114 others(11): Show |
14 | 372 | 0.0376 | 11 | c.132 others(28): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATATAT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0242 | a0002c0002t0242g0248 | 1 | 372 | 0.0027 | 11 | c.*48 others(22): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATATAT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0103a0001c0001t0146 | a0001c0001t0103g0168 a0001c0001t0146g0144 |
2 | 372 | 0.0054 | 11 | c.*48 others(22): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATATTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0227 | a0001c0001t0227g0034 | 1 | 372 | 0.0027 | 11 | c.*48 others(22): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | NA18959.hp1 NA18991.hp2 |
a0002a0007 | a0002c0002a0007c0024 | a0002c0002t0166a0007c0024t0218 | a0002c0002t0166g0255 a0007c0024t0218g0099 |
2 | 372 | 0.0054 | 11 | c.*48 others(22): 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(4): Show |
3_prime_UTR_variant | MODIFIER | HG01515.hp1 HG01928.hp1 HG01928.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0016a0001c0001t0205a0002c0002t0016others(2): Show | a0001c0001t0016g0160 a0001c0001t0016g0213 a0001c0001t0205g0103 others(3): Show |
6 | 372 | 0.0161 | 11 | c.*48 others(22): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | chr7 | TogoVar | ||||||
SCLT1_chr4_128878993_129098539 | 128912574 | G | GGGATACA others(4): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0009a0001c0002t0007a0001c0010t0001others(1): Show | a0001c0001t0009g0280 a0001c0002t0007g0277 a0001c0010t0001g0061 others(1): Show |
4 | 288 | 0.0139 | 11 | c.183 others(32): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 18/20 | chr4 | TogoVar | |||||||
SCLT1_chr4_128878993_129098539 | 129065611 | C | CATTAGAT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(89): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0003others(2): Show | a0001c0001t0001a0001c0008t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(86): Show |
92 | 288 | 0.3194 | 11 | c.102 others(30): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41058378 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0010 | a0001c0001t0004g0246 a0001c0001t0004g0248 a0001c0001t0004g0249 others(26): Show |
29 | 304 | 0.0954 | 11 | c.110 others(30): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 10/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41089787 | C | CTCTTTTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(3): Show |
6 | 304 | 0.0197 | 11 | c.746 others(30): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41089787 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01168.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0147 a0001c0001t0001g0156 others(13): Show |
16 | 304 | 0.0526 | 11 | c.746 others(30): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41244447 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01975.hp1 HG02698.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0083 others(4): Show |
7 | 304 | 0.0230 | 11 | c.-25 others(22): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 2142 | chr1 | TogoVar | |||||||
SCML2_chrX_18234313_18359688 | 18354389 | A | AGGGGCGT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 247 | 0.0041 | 11 | c.-25 others(26): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107701607 | A | ACACACAC others(4): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 250 | 0.0040 | 11 | c.*35 others(22): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 546 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107726532 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 HG06807.hp2 |
a0001a0003 | a0001c0001a0003c0013 | a0001c0001t0001a0003c0013t0006 | a0001c0001t0001g0010 a0003c0013t0006g0037 |
2 | 250 | 0.0080 | 11 | c.683 others(28): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107743983 | T | TATTTCTC others(4): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18977.hp1 NA19077.hp1 others(3): Show |
a0001 | a0001c0009a0001c0010 | a0001c0009t0001a0001c0009t0006a0001c0010t0007 | a0001c0009t0001g0139 a0001c0009t0006g0063 a0001c0009t0006g0066 others(3): Show |
6 | 250 | 0.0240 | 11 | c.682 others(26): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107751647 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0067 | 1 | 250 | 0.0040 | 11 | c.157 others(28): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778214 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0049 | 1 | 250 | 0.0040 | 11 | c.-59 others(28): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 250 | 0.0040 | 11 | c.-59 others(28): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18957.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0005t0011 | a0001c0001t0006g0071 a0001c0005t0011g0098 |
2 | 250 | 0.0080 | 11 | c.-59 others(28): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107817620 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0135 | 1 | 250 | 0.0040 | 11 | c.-60 others(28): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107822508 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18957.hp2 NA18973.hp2 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0009a0001c0005t0030 | a0001c0001t0003g0080 a0001c0002t0009g0078 a0001c0005t0030g0079 |
3 | 250 | 0.0120 | 11 | c.-60 others(28): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38736963 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02922.hp2 others(2): Show |
a0001a0018 | a0001c0003a0001c0007a0018c0051 | a0001c0003t0002a0001c0007t0001a0018c0051t0001 | a0001c0003t0002g0080 a0001c0007t0001g0103 a0001c0007t0001g0364 others(2): Show |
5 | 372 | 0.0134 | 11 | c.228 others(30): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38737832 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0005 | a0005c0025 | a0005c0025t0001 | a0005c0025t0001g0305 | 1 | 372 | 0.0027 | 11 | c.228 others(30): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38798786 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0370 | 1 | 372 | 0.0027 | 11 | c.-32 others(28): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 1/27 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38877114 | C | CCATATAT others(4): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 | 1 | 314 | 0.0032 | 11 | c.339 others(30): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38877114 | C | CCATATAT others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0003a0001c0015t0003 | a0001c0001t0003g0312 a0001c0015t0003g0288 |
2 | 314 | 0.0064 | 11 | c.339 others(30): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38877114 | C | CTATATAT others(4): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02523.hp2 HG04204.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0004 a0001c0001t0002g0038 a0001c0001t0002g0070 others(4): Show |
7 | 314 | 0.0223 | 11 | c.339 others(30): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38877116 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03453.hp2 HG06807.hp1 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0308 a0001c0006t0003g0309 |
2 | 314 | 0.0064 | 11 | c.339 others(30): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38889802 | A | AAAAAATA others(4): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 314 | 0.0032 | 11 | c.283 others(30): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 19/29 | chr3 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166050650 | T | TGTATGTA others(4): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0010 | a0010c0026 | a0010c0026t0043 | a0010c0026t0043g0038 | 1 | 356 | 0.0028 | 11 | c.964 others(28): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 9/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166118298 | G | GCTTCTTT others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01496.hp2 HG01891.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0017a0001c0003t0034others(3): Show | a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 others(6): Show |
9 | 356 | 0.0253 | 11 | c.-14 others(30): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166123223 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02155.hp1 HG02723.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0001t0040a0001c0003t0020 | a0001c0001t0017g0322 a0001c0001t0040g0321 a0001c0003t0020g0345 |
3 | 356 | 0.0084 | 11 | c.-14 others(30): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN1B_chr19_35025470_35045449 | 35026284 | A | ACCACGGA others(4): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01169.hp1 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 |
6 | 404 | 0.0149 | 11 | c.-45 others(22): Show |
SCN1B | ENSG00000105711.14 | transcript | ENST00000262631.11 | protein_coding | 4185 | chr19 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165291491 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01515.hp1 HG02886.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0014t0002others(1): Show | a0001c0001t0001g0229 a0001c0001t0002g0200 a0001c0014t0002g0104 others(3): Show |
6 | 358 | 0.0168 | 11 | c.-51 others(28): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165291528 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00597.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0002 a0001c0001t0002g0122 a0001c0001t0002g0178 others(9): Show |
13 | 358 | 0.0363 | 11 | c.-51 others(28): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165303270 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0149 |
2 | 358 | 0.0056 | 11 | c.387 others(28): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165392742 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0262 a0001c0001t0002g0263 others(1): Show |
4 | 358 | 0.0112 | 11 | c.*29 others(22): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 439 | chr2 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118174091 | C | CTTTTGTT others(4): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0189 a0001c0001t0024g0233 |
2 | 450 | 0.0044 | 11 | c.70+ others(26): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118179408 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0218 | 1 | 450 | 0.0022 | 11 | c.-29 others(22): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2770 | chr11 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165086861 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0027 | a0001c0001t0002a0001c0027t0012 | a0001c0001t0002g0041 a0001c0027t0012g0022 |
2 | 314 | 0.0064 | 11 | c.*32 others(22): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 664 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165153987 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01891.hp1 others(11): Show |
a0001a0002a0009 | a0001c0001a0001c0008a0001c0026others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0068 a0001c0001t0001g0148 a0001c0001t0001g0149 others(10): Show |
14 | 314 | 0.0446 | 11 | c.138 others(28): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 11/27 | chr2 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123642197 | A | AGAGCTCA others(4): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0005 | a0002c0005t0039 | a0002c0005t0039g0075 | 1 | 450 | 0.0022 | 11 | c.445 others(26): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
SCN4B_chr11_118128377_118157823 | 118136092 | A | AGGGGGAG others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00733.hp1 others(91): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0011 | a0001c0001t0003a0001c0001t0005a0001c0001t0014others(4): Show | a0001c0001t0003g0003 a0001c0001t0003g0042 a0001c0001t0003g0046 others(44): Show |
94 | 446 | 0.2108 | 11 | c.*92 others(20): Show |
SCN4B | ENSG00000177098.9 | transcript | ENST00000324727.9 | protein_coding | 5/5 | 934 | chr11 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38555101 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0280 | 1 | 340 | 0.0029 | 11 | c.454 others(28): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555103 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0040 | 1 | 340 | 0.0029 | 11 | c.454 others(28): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555105 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0184 | 1 | 340 | 0.0029 | 11 | c.454 others(28): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar |