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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCMH1_chr1_41022202_41247306 | 41087937 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 others(32): Show |
35 | 304 | 0.1151 | 20 | c.746 others(39): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41089787 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02738.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 a0001c0001t0002g0076 |
2 | 304 | 0.0066 | 20 | c.746 others(39): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41244447 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01074.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0251 others(18): Show |
21 | 304 | 0.0691 | 20 | c.-25 others(31): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 2142 | chr1 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107751572 | A | ATCTTTCT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02132.hp2 NA18948.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0005 | a0001c0001t0002g0065 a0001c0001t0002g0185 a0001c0001t0002g0214 others(2): Show |
5 | 250 | 0.0200 | 20 | c.157 others(37): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107759332 | A | AATACATA others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0107 | 1 | 250 | 0.0040 | 20 | c.157 others(37): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAATA others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 250 | 0.0040 | 20 | c.-59 others(37): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107779180 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02155.hp1 HG03017.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0170 a0001c0001t0003g0006 a0001c0001t0003g0055 |
3 | 250 | 0.0120 | 20 | c.-59 others(37): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107802576 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 250 | 0.0040 | 20 | c.-60 others(39): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107802580 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0012a0001c0003t0015 | a0001c0002t0001g0164 a0001c0003t0012g0132 a0001c0003t0015g0160 others(2): Show |
5 | 250 | 0.0200 | 20 | c.-60 others(39): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107804248 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03130.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0027a0001c0003t0007 | a0001c0001t0027g0143 a0001c0003t0007g0142 |
2 | 250 | 0.0080 | 20 | c.-60 others(39): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38736963 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03491.hp1 |
a0001 | a0001c0006a0001c0008 | a0001c0006t0002a0001c0008t0001 | a0001c0006t0002g0018 a0001c0008t0001g0281 |
2 | 372 | 0.0054 | 20 | c.228 others(39): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38737798 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG01175.hp1 others(18): Show |
a0001a0002a0006others(1): Show | a0001c0003a0001c0006a0001c0007others(7): Show | a0001c0003t0001a0001c0003t0002a0001c0006t0002others(8): Show | a0001c0003t0001g0088 a0001c0003t0001g0122 a0001c0003t0001g0300 others(18): Show |
21 | 372 | 0.0565 | 20 | c.228 others(39): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38746059 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0056 | 1 | 372 | 0.0027 | 20 | c.186 others(39): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 13/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38746063 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0084 | 1 | 372 | 0.0027 | 20 | c.186 others(39): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 13/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38746100 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0091 | 1 | 372 | 0.0027 | 20 | c.186 others(39): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 13/27 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38877063 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02523.hp2 HG03209.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0024others(1): Show | a0001c0001t0002a0001c0002t0004a0001c0024t0001others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0070 a0001c0001t0002g0075 others(5): Show |
8 | 314 | 0.0255 | 20 | c.339 others(39): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38877670 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03453.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0003 | a0001c0001t0002g0130 a0001c0006t0003g0308 a0001c0006t0003g0309 |
3 | 314 | 0.0096 | 20 | c.339 others(39): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38907310 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01975.hp2 HG01981.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0001g0230 |
3 | 314 | 0.0096 | 20 | c.147 others(37): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 14/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38929131 | G | GCGCGCGC others(13): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0183 | 1 | 314 | 0.0032 | 20 | c.489 others(37): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38929131 | G | GCGCGCGC others(13): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18989.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0043 a0001c0002t0004g0046 |
2 | 314 | 0.0064 | 20 | c.489 others(37): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38929131 | G | GCGCGCGC others(13): Show |
intron_variant | MODIFIER | NA19063.hp1 NA19090.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0049 a0001c0002t0004g0051 |
2 | 314 | 0.0064 | 20 | c.489 others(37): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38995803 | A | ATCTATCT others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0245 | 1 | 314 | 0.0032 | 20 | c.-27 others(41): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38995819 | G | GTCTATCT others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00621.hp2 others(24): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0003 | a0001c0002t0001a0001c0002t0016a0001c0006t0003others(2): Show | a0001c0002t0001g0149 a0001c0002t0001g0153 a0001c0002t0001g0159 others(24): Show |
27 | 314 | 0.0860 | 20 | c.-27 others(41): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38995819 | G | GTCTGTCT others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0012t0001 | a0001c0001t0003g0272 a0001c0001t0003g0283 a0001c0012t0001g0260 others(1): Show |
4 | 314 | 0.0127 | 20 | c.-27 others(41): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 165993180 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02738.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0023 | a0001c0001t0001g0067 a0001c0001t0017g0322 a0001c0001t0023g0146 |
3 | 356 | 0.0084 | 20 | c.485 others(37): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 28/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166050613 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02004.hp2 HG02040.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0017others(8): Show | a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0046 others(12): Show |
15 | 356 | 0.0421 | 20 | c.964 others(37): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 9/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166050623 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0063 | a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0063g0051 |
3 | 356 | 0.0084 | 20 | c.964 others(37): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 9/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166072789 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0050 | a0001c0001t0006g0289 a0001c0001t0050g0249 |
2 | 356 | 0.0056 | 20 | c.264 others(35): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166088350 | T | TGGTGCCA others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG02976.hp2 others(10): Show |
a0002a0008 | a0002c0002a0008c0013 | a0002c0002t0009a0002c0002t0029a0002c0002t0030others(3): Show | a0002c0002t0009g0304 a0002c0002t0009g0308 a0002c0002t0009g0309 others(10): Show |
13 | 356 | 0.0365 | 20 | c.-14 others(41): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166118298 | G | GCTTCTTT others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0318 | 1 | 356 | 0.0028 | 20 | c.-14 others(39): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165240659 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG01496.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 others(2): Show |
5 | 358 | 0.0140 | 20 | c.-52 others(37): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165265469 | A | ATCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 358 | 0.0028 | 20 | c.-52 others(39): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165265471 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 358 | 0.0028 | 20 | c.-52 others(39): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165265471 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 358 | 0.0028 | 20 | c.-52 others(39): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165291575 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 a0001c0001t0001g0342 |
2 | 358 | 0.0056 | 20 | c.-51 others(37): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165303270 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 358 | 0.0028 | 20 | c.387 others(37): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165345848 | G | GGTTTTTC others(13): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0116 | 1 | 358 | 0.0028 | 20 | c.291 others(37): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN3B_chr11_123624188_123659624 | 123625973 | A | AGAGAGAG others(13): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 450 | 0.0022 | 20 | c.*78 others(31): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3214 | chr11 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123644800 | A | AGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0155 | 1 | 450 | 0.0022 | 20 | c.219 others(35): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123644800 | A | AGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0156 | 1 | 450 | 0.0022 | 20 | c.219 others(35): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555105 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0011 | 1 | 340 | 0.0029 | 20 | c.454 others(37): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555159 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG02647.hp2 others(5): Show |
a0001a0005a0014 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0004a0001c0003t0004a0001c0008t0007others(2): Show | a0001c0001t0004g0214 a0001c0001t0004g0301 a0001c0001t0004g0302 others(5): Show |
8 | 340 | 0.0235 | 20 | c.454 others(37): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38585662 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0121 | 1 | 340 | 0.0029 | 20 | c.278 others(35): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38607461 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0082 | 1 | 340 | 0.0029 | 20 | c.998 others(35): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38624208 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 340 | 0.0029 | 20 | c.393 others(37): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 3/27 | chr3 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166413981 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01255.hp1 HG01261.hp2 others(16): Show |
a0001a0003a0009others(2): Show | a0001c0001a0001c0010a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(8): Show | a0001c0001t0001g0015 a0001c0001t0001g0130 a0001c0001t0001g0299 others(15): Show |
19 | 394 | 0.0482 | 20 | c.341 others(37): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166413981 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18522.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0098 a0001c0001t0004g0053 a0001c0001t0004g0054 |
3 | 394 | 0.0076 | 20 | c.341 others(37): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414000 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 394 | 0.0025 | 20 | c.341 others(37): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414002 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02896.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0143 a0003c0003t0004g0140 a0003c0003t0004g0141 others(1): Show |
4 | 394 | 0.0102 | 20 | c.341 others(37): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166439055 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02572.hp1 HG04204.hp1 others(1): Show |
a0001a0007a0020 | a0001c0001a0001c0010a0007c0007others(1): Show | a0001c0001t0002a0001c0010t0009a0007c0007t0002others(1): Show | a0001c0001t0002g0269 a0001c0010t0009g0063 a0007c0007t0002g0244 others(1): Show |
4 | 394 | 0.0102 | 20 | c.215 others(39): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 15/25 | chr2 | TogoVar |