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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCARF2_chr22_20419584_20442825 | 20429291 | AGCGCCCG others(11): Show |
A | conservative_inframe_deletion | MODERATE | NA18991.hp1 | a0012 | a0012c0019 | a0012c0019t0002 | a0012c0019t0002g0066 | 1 | 400 | 0.0025 | -18 | c.145 others(27): Show |
p.His others(13): Show |
SCARF2 | ENSG00000244486.9 | transcript | ENST00000622235.5 | protein_coding | 9/11 | 1544/3463 | 1456/2601 | 486/866 | chr22 | TogoVar | |||
SCART1_chr10_133448945_133474760 | 133464277 | GTGCAGTG others(11): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0141 | 1 | 431 | 0.0023 | -18 | c.197 others(35): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SCART1_chr10_133448945_133474760 | 133474605 | ATTCTCCA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03130.hp1 |
a0001a0027 | a0001c0001a0027c0033 | a0001c0001t0005a0027c0033t0004 | a0001c0001t0005g0061 a0027c0033t0004g0053 |
2 | 432 | 0.0046 | -18 | c.*66 others(29): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 4846 | chr10 | TogoVar | |||||||
SCCPDH_chr1_246719409_246773137 | 246722502 | AATATATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0101 | 1 | 36 | 0.0278 | -18 | c.-19 others(29): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 1906 | chr1 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82687184 | AAAAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG03688.hp1 HG03831.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0013a0001c0001t0020others(1): Show | a0001c0001t0001g0083 a0001c0001t0013g0017 a0001c0001t0013g0116 others(2): Show |
5 | 207 | 0.0242 | -18 | c.364 others(35): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82712243 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG03209.hp1 NA19066.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0002t0016 | a0001c0001t0002g0039 a0001c0001t0015g0200 a0001c0002t0016g0209 |
3 | 90 | 0.0333 | -18 | c.233 others(35): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30703946 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02027.hp1 HG02132.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(2): Show |
5 | 325 | 0.0154 | -18 | c.149 others(37): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 52875802 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0010g0061 |
3 | 22 | 0.1364 | -18 | c.196 others(37): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 52952242 | GCCCCATC others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01515.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0004 | a0001c0001t0001g0085 a0001c0001t0004g0089 a0001c0005t0004g0030 others(1): Show |
4 | 159 | 0.0252 | -18 | c.156 others(39): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53188418 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0101 |
2 | 40 | 0.0500 | -18 | c.131 others(39): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51704240 | CATACATA others(11): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01891.hp1 HG02074.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0009 | a0001c0002t0001g0047 a0001c0002t0001g0299 a0001c0002t0001g0304 others(5): Show |
8 | 324 | 0.0247 | -18 | c.120 others(37): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709695 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 355 | 0.0028 | -18 | c.120 others(37): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG5_chr15_32636710_32702092 | 32663032 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 others(60): Show |
65 | 179 | 0.3631 | -18 | c.227 others(37): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCGB2A1_chr11_62203673_62218943 | 62209635 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 34 | 0.0294 | -18 | c.56- others(31): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCGB2B2_chr19_34585644_34682159 | 34594652 | CGTGTGTG others(11): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0047a0001c0001t0051others(2): Show | a0001c0001t0040g0213 a0001c0001t0040g0214 a0001c0001t0047g0319 others(4): Show |
7 | 49 | 0.1429 | -18 | c.-10 others(26): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 2/4 | 90 | chr19 | TogoVar | ||||||
SCGB2B2_chr19_34585644_34682159 | 34645525 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG02056.hp1 HG02717.hp1 HG03669.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0020others(2): Show | a0001c0001t0008g0138 a0001c0001t0009g0132 a0001c0001t0020g0151 others(2): Show |
5 | 250 | 0.0200 | -18 | c.-20 others(41): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159297126 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0005g0080 others(1): Show |
4 | 8 | 0.5000 | -18 | c.63+ others(35): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159432286 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 42 | 0.0238 | -18 | c.63+ others(37): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159553967 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 26 | 0.0385 | -18 | c.64- others(37): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159713224 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 100 | 0.0100 | -18 | c.64- others(35): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159750257 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01978.hp1 HG02145.hp2 NA19007.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0002t0001g0048 |
3 | 49 | 0.0612 | -18 | c.64- others(35): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159828370 | TATATACA others(11): Show |
T | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 97 | 0.0103 | -18 | c.760 others(37): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12566079 | ATGTTTAG others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0227 a0001c0001t0043g0228 |
2 | 370 | 0.0054 | -18 | c.-47 others(29): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 4640 | chr7 | TogoVar | |||||||
SCIN_chr7_12565720_12665182 | 12569183 | GACACACA others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01975.hp1 |
a0002a0011 | a0002c0003a0011c0013 | a0002c0003t0013a0011c0013t0009 | a0002c0003t0013g0256 a0011c0013t0009g0257 |
2 | 78 | 0.0256 | -18 | c.-16 others(29): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 1536 | chr7 | TogoVar | |||||||
SCIN_chr7_12565720_12665182 | 12657556 | ATATATAT others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0145 | a0001c0001t0145g0041 | 1 | 366 | 0.0027 | -18 | c.*48 others(29): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4843 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCIN_chr7_12565720_12665182 | 12657562 | ATATATAT others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG03139.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0121a0002c0002t0010a0002c0003t0017 | a0001c0001t0121g0201 a0002c0002t0010g0317 a0002c0003t0017g0066 others(2): Show |
5 | 350 | 0.0143 | -18 | c.*48 others(29): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4849 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCIN_chr7_12565720_12665182 | 12657564 | ATATATAT others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0167 | 1 | 335 | 0.0030 | -18 | c.*48 others(29): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4851 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCLT1_chr4_128878993_129098539 | 128894363 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(74): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show |
77 | 84 | 0.9167 | -18 | c.183 others(37): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 18/20 | chr4 | TogoVar | |||||||
SCLT1_chr4_128878993_129098539 | 129067138 | ATAAGATA others(11): Show |
A | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 286 | 0.0035 | -18 | c.102 others(37): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
SCML2_chrX_18234313_18359688 | 18257924 | GGGGGAAG others(11): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0242 | 1 | 245 | 0.0041 | -18 | c.127 others(35): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 10/14 | chrX | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778212 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0007 | a0002c0007t0007 | a0002c0007t0007g0031 | 1 | 246 | 0.0041 | -18 | c.-59 others(35): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0135 | 1 | 174 | 0.0057 | -18 | c.-59 others(35): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107813407 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00621.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0002g0174 a0001c0001t0002g0195 a0001c0001t0002g0220 others(22): Show |
25 | 224 | 0.1116 | -18 | c.-60 others(37): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107824462 | CTGTGTGT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0077 a0001c0001t0003g0013 a0001c0001t0004g0045 others(4): Show |
7 | 9 | 0.7778 | -18 | c.-41 others(27): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 150 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38722424 | GGTGACTG others(11): Show |
G | intron_variant | MODIFIER | NA19078.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0269 | 1 | 370 | 0.0027 | -18 | c.335 others(33): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 19/27 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38907349 | TCTATATA others(11): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG03130.hp1 |
a0001 | a0001c0012a0001c0016 | a0001c0012t0001a0001c0016t0001 | a0001c0012t0001g0258 a0001c0012t0001g0259 a0001c0016t0001g0261 |
3 | 312 | 0.0096 | -18 | c.147 others(35): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 14/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38938538 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0059 | 1 | 303 | 0.0033 | -18 | c.488 others(35): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 165989051 | TGTGTGTG others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03098.hp2 HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0051 | a0001c0001t0021g0345 a0001c0001t0021g0346 a0001c0001t0051g0230 |
3 | 354 | 0.0085 | -18 | c.*21 others(29): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 29/29 | 2176 | chr2 | TogoVar | ||||||
SCN1A_chr2_165980813_166133020 | 165990732 | CCCCAGGT others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0107 | 1 | 354 | 0.0028 | -18 | c.*49 others(27): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 29/29 | 495 | chr2 | TogoVar | ||||||
SCN1B_chr19_35025470_35045449 | 35029752 | CGGGGCAG others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 NA18522.hp1 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0040 a0001c0003t0010g0042 |
2 | 401 | 0.0050 | -18 | c.-10 others(29): Show |
SCN1B | ENSG00000105711.14 | transcript | ENST00000262631.11 | protein_coding | 717 | chr19 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165265471 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG02056.hp1 HG02074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0166 a0001c0001t0002g0156 a0001c0001t0002g0157 others(8): Show |
11 | 77 | 0.1429 | -18 | 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 | 165272764 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00735.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(47): Show |
50 | 67 | 0.7463 | -18 | 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 | 165306504 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01123.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0208 others(51): Show |
54 | 66 | 0.8182 | -18 | c.387 others(35): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2B_chr11_118157806_118181639 | 118178887 | ATTATTAT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0169 a0001c0001t0005g0011 a0001c0001t0005g0026 others(4): Show |
9 | 429 | 0.0210 | -18 | c.-24 others(29): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2249 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118178890 | ATTATTAT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG02622.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0128 a0001c0001t0001g0200 a0001c0001t0003g0168 others(12): Show |
18 | 399 | 0.0451 | -18 | c.-24 others(29): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2252 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118178893 | ATTATTAT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0065 | a0001c0001t0027g0203 a0001c0001t0065g0208 |
2 | 364 | 0.0055 | -18 | c.-24 others(29): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2255 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118178896 | ATTATTTT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0167 | 1 | 282 | 0.0035 | -18 | c.-24 others(29): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2258 | chr11 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165111484 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp1 HG02055.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0068 a0001c0001t0001g0161 a0001c0001t0001g0169 others(9): Show |
12 | 22 | 0.5455 | -18 | c.384 others(37): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 21/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165146378 | ATATATGT others(11): Show |
A | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0250 | 1 | 244 | 0.0041 | -18 | c.167 others(35): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165156512 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236 | 1 | 26 | 0.0385 | -18 | c.103 others(35): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 9/27 | chr2 | TogoVar |