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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S100Z_chr5_76845014_76926650 | 76906974 | GTGTATAT others(23): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01257.hp2 HG01258.hp1 others(15): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 a0002c0001t0001g0004 a0002c0001t0001g0005 others(12): Show |
18 | 222 | 0.0811 | -30 | c.*3- others(47): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
S100Z_chr5_76845014_76926650 | 76906976 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0178 | 1 | 256 | 0.0039 | -30 | c.*3- others(47): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SAMD15_chr14_77372379_77397163 | 77372932 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0138 | 1 | 297 | 0.0034 | -30 | c.-44 others(41): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4446 | chr14 | TogoVar | |||||||
SAMD15_chr14_77372379_77397163 | 77372934 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0140 | 1 | 300 | 0.0033 | -30 | c.-44 others(41): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4444 | chr14 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54568690 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00733.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0039 | a0001c0001t0022g0002 a0001c0001t0039g0003 |
2 | 11 | 0.1818 | -30 | c.196 others(45): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54626047 | TGTGTGTG others(23): Show |
T | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 260 | 0.0038 | -30 | c.196 others(49): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54678433 | TTGTGTGT others(23): Show |
T | intron_variant | MODIFIER | HG03540.hp2 NA18955.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008 | a0001c0001t0002g0252 a0001c0001t0007g0073 a0001c0001t0008g0007 |
3 | 40 | 0.0750 | -30 | c.197 others(49): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148486936 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0023 | a0001c0023t0007 | a0001c0023t0007g0274 | 1 | 22 | 0.0455 | -30 | c.628 others(45): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148537776 | CTGTGTGT others(23): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0008 | a0001c0001t0002g0086 a0002c0004t0008g0255 |
2 | 38 | 0.0526 | -30 | c.209 others(49): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199355215 | AGTGTGTA others(23): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 250 | 0.0040 | -30 | c.701 others(47): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 6/10 | chr2 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85156813 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01258.hp1 others(42): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0001a0003c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0061 others(40): Show |
45 | 54 | 0.8333 | -30 | c.-31 others(51): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10055524 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0012 | a0001c0012t0005 | a0001c0012t0005g0194 | 1 | 6 | 0.1667 | -30 | c.142 others(49): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBK1_chr16_28287525_28328849 | 28322917 | GCGCTCTC others(23): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 NA18971.hp2 NA19000.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0058 | a0001c0001t0016g0055 a0001c0001t0016g0085 a0001c0001t0016g0088 others(3): Show |
6 | 231 | 0.0260 | -30 | c.*19 others(41): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 1998 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBK2_chr19_55523611_55542133 | 55539944 | CACATGTG others(23): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0021 | a0001c0021t0008 | a0001c0021t0008g0176 | 1 | 428 | 0.0023 | -30 | c.-29 others(41): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 2812 | chr19 | TogoVar | |||||||
SBK3_chr19_55535656_55550543 | 55539944 | CACATGTG others(23): Show |
C | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 432 | 0.0023 | -30 | c.*87 others(39): Show |
SBK3 | ENSG00000231274.5 | transcript | ENST00000612221.1 | protein_coding | 711 | chr19 | TogoVar | |||||||
SBK3_chr19_55535656_55550543 | 55548934 | AAAATTAA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | -30 | c.-34 others(41): Show |
SBK3 | ENSG00000231274.5 | transcript | ENST00000612221.1 | protein_coding | 3392 | chr19 | TogoVar | |||||||
SCAF11_chr12_45914131_45995574 | 45972865 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00609.hp2 others(79): Show |
a0001a0005a0013others(1): Show | a0001c0001a0001c0006a0001c0023others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0019 others(74): Show |
82 | 305 | 0.2689 | -30 | c.-21 others(47): Show |
SCAF11 | ENSG00000139218.18 | transcript | ENST00000369367.8 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
SCAF1_chr19_49637209_49663642 | 49659984 | TACACACA others(23): Show |
T | downstream_gene_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 150 | 0.0067 | -30 | c.*15 others(41): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154784120 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0257 | 1 | 87 | 0.0115 | -30 | c.160 others(47): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 125004753 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0303 | 1 | 302 | 0.0033 | -30 | c.862 others(47): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125004755 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0286 | 1 | 292 | 0.0034 | -30 | c.862 others(47): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78460797 | CTTCCTTC others(23): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 others(15): Show |
18 | 329 | 0.0547 | -30 | c.852 others(47): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874649 | AAAAAAAA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0078 a0001c0001t0010g0079 |
2 | 378 | 0.0053 | -30 | c.-14 others(41): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1285 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874651 | AAAAAAAA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0028 | a0001c0001t0005g0156 a0001c0001t0010g0142 a0001c0001t0010g0143 others(4): Show |
7 | 374 | 0.0187 | -30 | c.-14 others(41): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1287 | chr15 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27865577 | TTATATAT others(23): Show |
T | downstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 10 | 0.1000 | -30 | c.*63 others(41): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4305 | chr8 | TogoVar | |||||||
SCCPDH_chr1_246719409_246773137 | 246722502 | AATATATA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0266 | 1 | 36 | 0.0278 | -30 | c.-19 others(41): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 1906 | chr1 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82670642 | CATATCAA others(23): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0202 | 1 | 133 | 0.0075 | -30 | c.569 others(49): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCEL_chr13_77530706_77650263 | 77646200 | GTGACAGA others(23): Show |
G | downstream_gene_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0115 | 1 | 354 | 0.0028 | -30 | c.*19 others(41): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 938 | chr13 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30703910 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0265 | 1 | 231 | 0.0043 | -30 | c.149 others(49): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30703934 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03669.hp1 NA19084.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0175 others(1): Show |
4 | 326 | 0.0123 | -30 | c.149 others(49): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCGB1C2_chr17_132569_144067 | 136386 | AACCCTAA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02895.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0018 |
4 | 402 | 0.0100 | -30 | c.-12 others(41): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1182 | chr17 | TogoVar | |||||||
SCGB3A1_chr5_180585105_180596499 | 180594837 | TGGGTGTG others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02723.hp2 HG03139.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0015 |
3 | 468 | 0.0064 | -30 | c.-34 others(41): Show |
SCGB3A1 | ENSG00000161055.4 | transcript | ENST00000292641.4 | protein_coding | 3339 | chr5 | TogoVar | |||||||
SCGN_chr6_25647215_25706783 | 25658002 | CCTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01109.hp2 others(15): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 others(14): Show |
18 | 259 | 0.0695 | -30 | c.154 others(47): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SCGN_chr6_25647215_25706783 | 25658003 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0170 a0001c0001t0003g0215 |
2 | 131 | 0.0153 | -30 | c.154 others(47): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159505125 | TGAGATGT others(23): Show |
T | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 100 | 0.0100 | -30 | c.63+ others(49): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159626210 | ATATCTAG others(23): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 others(2): Show |
5 | 97 | 0.0515 | -30 | c.64- others(49): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159680706 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016 a0001c0001t0001g0081 a0001c0002t0001g0033 others(2): Show |
5 | 20 | 0.2500 | -30 | c.64- others(47): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIMP_chr17_5203920_5239860 | 5227555 | AGTGACAC others(23): Show |
A | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0299 | 1 | 384 | 0.0026 | -30 | c.22- others(45): Show |
SCIMP | ENSG00000161929.15 | transcript | ENST00000574081.6 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778208 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG02056.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0169 a0001c0001t0006g0221 |
2 | 193 | 0.0104 | -30 | c.-59 others(47): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107813395 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | NA18951.hp1 NA18985.hp2 NA19056.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0016 | a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0003t0016g0008 others(1): Show |
4 | 241 | 0.0166 | -30 | c.-60 others(49): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38889802 | AAAAATAA others(23): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0195 | 1 | 62 | 0.0161 | -30 | c.283 others(49): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 19/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38938536 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0248 | 1 | 300 | 0.0033 | -30 | c.488 others(47): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 39049124 | AAAAGGAA others(23): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0309 | 1 | 312 | 0.0032 | -30 | c.-40 others(49): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123644790 | AGAGAGAG others(23): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0013 | a0001c0001t0010g0011 a0001c0001t0013g0188 |
5 | 448 | 0.0112 | -30 | c.219 others(45): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414267 | CACACATA others(23): Show |
C | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0113 | 1 | 309 | 0.0032 | -30 | c.341 others(49): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166191671 | ATATATAT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0004 | a0004c0038 | a0004c0038t0009 | a0004c0038t0009g0281 | 1 | 266 | 0.0038 | -30 | c.*69 others(41): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3513 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166311329 | CCTATATA others(23): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG03139.hp1 |
a0001a0002 | a0001c0007a0002c0009 | a0001c0007t0001a0001c0007t0024a0002c0009t0004 | a0001c0007t0001g0060 a0001c0007t0024g0051 a0002c0009t0004g0036 |
3 | 158 | 0.0190 | -30 | c.258 others(45): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
SCT_chr11_621309_632181 | 627743 | CCGTTCAC others(23): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(84): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0002g0013 others(2): Show |
87 | 406 | 0.2143 | -30 | c.-63 others(39): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 563 | chr11 | TogoVar | |||||||
SCT_chr11_621309_632181 | 628925 | CTTTCTTT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01081.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 19 | 410 | 0.0463 | -30 | c.-18 others(41): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1745 | chr11 | TogoVar | |||||||
SCT_chr11_621309_632181 | 628953 | CTTTTTCT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02129.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 405 | 0.0049 | -30 | c.-18 others(41): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1773 | chr11 | TogoVar |