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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCGB1A1_chr11_62414033_62428195 | 62415764 | G | GTTTATTT others(17): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01928.hp1 HG02129.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(2): Show |
16 | 448 | 0.0357 | 24 | c.-33 others(35): Show |
SCGB1A1 | ENSG00000149021.7 | transcript | ENST00000278282.3 | protein_coding | 3268 | chr11 | TogoVar | |||||||
SCGB1A1_chr11_62414033_62428195 | 62415764 | G | GTTTGTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 448 | 0.0022 | 24 | c.-33 others(35): Show |
SCGB1A1 | ENSG00000149021.7 | transcript | ENST00000278282.3 | protein_coding | 3268 | chr11 | TogoVar | |||||||
SCGB1C1_chr11_188078_199575 | 196571 | G | GGGGACAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02809.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 4 | 354 | 0.0113 | 24 | c.*21 others(35): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1997 | chr11 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 140734 | G | GGGGACAT others(17): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 402 | 0.0025 | 24 | c.*17 others(35): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1668 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 140989 | A | AGGGGACC others(17): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0007 | 1 | 402 | 0.0025 | 24 | c.*20 others(35): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1923 | chr17 | TogoVar | |||||||
SCGB1D1_chr11_62185216_62198539 | 62196439 | A | AATTATTA others(17): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 HG02273.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 |
4 | 424 | 0.0094 | 24 | c.*30 others(35): Show |
SCGB1D1 | ENSG00000168515.3 | transcript | ENST00000306238.3 | protein_coding | 2901 | chr11 | TogoVar | |||||||
SCGB2A2_chr11_62265158_62278160 | 62277883 | C | CCCCTCCC others(17): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 390 | 0.0051 | 24 | c.*48 others(35): Show |
SCGB2A2 | ENSG00000110484.7 | transcript | ENST00000227918.3 | protein_coding | 4724 | chr11 | TogoVar | |||||||
SCGB2A2_chr11_62265158_62278160 | 62277909 | C | CCTCTCGC others(17): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 390 | 0.0051 | 24 | c.*49 others(35): Show |
SCGB2A2 | ENSG00000110484.7 | transcript | ENST00000227918.3 | protein_coding | 4750 | chr11 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34608660 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01168.hp1 others(32): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(19): Show | a0001c0001t0002g0237 a0001c0001t0002g0254 a0001c0001t0002g0259 others(32): Show |
35 | 370 | 0.0946 | 24 | c.-20 others(47): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34608684 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02735.hp2 HG04184.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0085 | a0001c0001t0024g0344 a0001c0001t0024g0345 a0001c0001t0085g0176 |
3 | 370 | 0.0081 | 24 | c.-20 others(47): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34669714 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG01123.hp1 others(42): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(41): Show |
45 | 370 | 0.1216 | 24 | c.-20 others(45): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGN_chr6_25647215_25706783 | 25657657 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0335 | 1 | 368 | 0.0027 | 24 | c.154 others(41): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159668376 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0034 | 1 | 100 | 0.0100 | 24 | c.64- others(41): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159704417 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0049 |
2 | 100 | 0.0200 | 24 | c.64- others(41): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159815937 | C | CTATTTAT others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 100 | 0.0100 | 24 | c.760 others(43): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIMP_chr17_5203920_5239860 | 5227292 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0109 | 1 | 386 | 0.0026 | 24 | c.22- others(39): Show |
SCIMP | ENSG00000161929.15 | transcript | ENST00000574081.6 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SCIN_chr7_12565720_12665182 | 12578909 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0014 | a0002c0014t0273 | a0002c0014t0273g0058 | 1 | 372 | 0.0027 | 24 | c.354 others(39): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATATAT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0236 | a0001c0001t0236g0109 | 1 | 372 | 0.0027 | 24 | c.*48 others(35): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCLT1_chr4_128878993_129098539 | 128975040 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(25): Show |
a0001a0004a0007 | a0001c0001a0001c0008a0004c0013others(1): Show | a0001c0001t0001a0001c0008t0001a0004c0013t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0191 a0001c0001t0001g0194 others(24): Show |
28 | 288 | 0.0972 | 24 | c.687 others(41): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 9/20 | chr4 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41087937 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | NA18941.hp2 NA19063.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0012 a0001c0001t0001g0238 a0001c0001t0006g0168 |
3 | 304 | 0.0099 | 24 | c.746 others(43): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41244447 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0257 a0001c0001t0005g0269 |
2 | 304 | 0.0066 | 24 | c.-25 others(35): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 2142 | chr1 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107731309 | T | TAAACTGG others(17): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 250 | 0.0040 | 24 | c.683 others(43): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107751572 | A | ATCTTTCT others(17): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18994.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0006g0053 |
3 | 250 | 0.0120 | 24 | c.157 others(41): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107759332 | A | AATACATA others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0007 | a0002c0007t0007 | a0002c0007t0007g0040 | 1 | 250 | 0.0040 | 24 | c.157 others(41): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107802689 | C | CTCTCCCT others(17): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0075 | 1 | 250 | 0.0040 | 24 | c.-60 others(43): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38736963 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0344 | 1 | 372 | 0.0027 | 24 | c.228 others(43): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38737798 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01192.hp1 others(23): Show |
a0001a0002a0010others(1): Show | a0001c0003a0001c0005a0001c0007others(7): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(9): Show | a0001c0003t0001g0025 a0001c0003t0001g0077 a0001c0003t0001g0078 others(23): Show |
26 | 372 | 0.0699 | 24 | c.228 others(43): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38746100 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02897.hp1 NA18982.hp2 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0002a0001c0007t0001 | a0001c0003t0002g0102 a0001c0003t0002g0311 a0001c0007t0001g0012 |
3 | 372 | 0.0081 | 24 | c.186 others(43): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 13/27 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38929131 | G | GTGCGCGC others(17): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0309 | 1 | 314 | 0.0032 | 24 | c.489 others(41): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38945606 | C | CTGCAGGT others(17): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 314 | 0.0032 | 24 | c.387 others(38): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 6/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38950064 | C | CCCACCCC others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0293 | 1 | 314 | 0.0032 | 24 | c.267 others(37): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 5/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38950067 | C | CACCCCCC others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0298 | 1 | 314 | 0.0032 | 24 | c.267 others(37): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 5/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38995797 | T | TTGTCTAT others(17): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03195.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0242 a0001c0005t0001g0253 |
2 | 314 | 0.0064 | 24 | c.-27 others(45): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38995797 | T | TTGTCTAT others(17): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0247 | 1 | 314 | 0.0032 | 24 | c.-27 others(45): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38995799 | G | GTCTATCT others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0197 | 1 | 314 | 0.0032 | 24 | c.-27 others(45): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38995799 | G | GTCTATCT others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02257.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0204 a0001c0002t0002g0205 |
2 | 314 | 0.0064 | 24 | c.-27 others(45): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38995819 | G | GTCTATCT others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG02109.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0017a0002c0003 | a0001c0002t0001a0001c0002t0004a0001c0017t0001others(1): Show | a0001c0002t0001g0148 a0001c0002t0001g0154 a0001c0002t0001g0166 others(10): Show |
13 | 314 | 0.0414 | 24 | c.-27 others(45): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38995819 | G | GTCTGTCT others(17): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0312 | 1 | 314 | 0.0032 | 24 | c.-27 others(45): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166050613 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02486.hp2 HG02602.hp1 others(2): Show |
a0001a0005a0009 | a0001c0001a0001c0003a0005c0018others(1): Show | a0001c0001t0001a0001c0003t0020a0001c0003t0088others(2): Show | a0001c0001t0001g0195 a0001c0003t0020g0342 a0001c0003t0088g0312 others(2): Show |
5 | 356 | 0.0140 | 24 | c.964 others(41): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 9/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166072789 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02257.hp2 HG02559.hp2 others(8): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0006a0001c0001t0021a0001c0001t0049others(1): Show | a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0286 others(8): Show |
11 | 356 | 0.0309 | 24 | c.264 others(39): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166118298 | G | GCTTCTTT others(17): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0287 | 1 | 356 | 0.0028 | 24 | c.-14 others(43): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165291525 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 a0001c0001t0002g0102 |
2 | 358 | 0.0056 | 24 | c.-51 others(41): 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(17): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 358 | 0.0028 | 24 | c.-51 others(41): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2B_chr11_118157806_118181639 | 118162086 | C | CAGAGAGA others(17): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0034 | a0001c0001t0010g0030 a0001c0001t0034g0070 |
2 | 450 | 0.0044 | 24 | c.*48 others(35): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 719 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118178899 | A | ATTATTAT others(17): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0234 | 1 | 450 | 0.0022 | 24 | c.-24 others(35): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2261 | chr11 | TogoVar | |||||||
SCN4A_chr17_63933554_63977918 | 63939585 | T | TCTGGGCA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01109.hp1 others(64): Show |
a0001a0002a0003others(9): Show | a0001c0005a0001c0006a0001c0010others(30): Show | a0001c0005t0003a0001c0006t0003a0001c0006t0007others(35): Show | a0001c0005t0003g0010 a0001c0005t0003g0041 a0001c0005t0003g0118 others(54): Show |
67 | 356 | 0.1882 | 24 | c.*11 others(35): Show |
SCN4A | ENSG00000007314.12 | transcript | ENST00000435607.3 | protein_coding | 24/24 | 1185 | chr17 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38555159 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03041.hp2 HG03654.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0014 | a0001c0001t0004a0001c0004t0001a0001c0014t0004 | a0001c0001t0004g0144 a0001c0001t0004g0326 a0001c0004t0001g0082 others(1): Show |
4 | 340 | 0.0118 | 24 | c.454 others(41): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38585662 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00738.hp2 others(60): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0002g0004 a0001c0001t0002g0024 a0001c0001t0002g0106 others(59): Show |
63 | 340 | 0.1853 | 24 | c.278 others(39): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166413981 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01071.hp1 others(11): Show |
a0001a0003a0008others(1): Show | a0001c0001a0003c0003a0008c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0315 others(11): Show |
14 | 394 | 0.0355 | 24 | c.341 others(41): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166413981 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 394 | 0.0025 | 24 | c.341 others(41): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar |