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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SENP3_chr17_7556919_7576969 | 7571894 | TATATATA others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 2 | 432 | 0.0046 | -18 | c.*41 others(27): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 419 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SENP6_chr6_75596880_75723281 | 75638580 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00609.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0020 | a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0206 others(17): Show |
20 | 284 | 0.0704 | -18 | c.459 others(35): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75638582 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02004.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0305 a0001c0001t0007g0327 |
2 | 337 | 0.0059 | -18 | c.459 others(35): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75638584 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | NA18966.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0313 a0001c0001t0004g0326 |
2 | 337 | 0.0059 | -18 | c.459 others(35): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75638586 | GTGTGTAT others(11): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 329 | 0.0030 | -18 | c.459 others(35): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75638610 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG03540.hp1 NA18980.hp1 NA19088.hp1 |
a0001a0004 | a0001c0005a0004c0006 | a0001c0005t0006a0004c0006t0005 | a0001c0005t0006g0296 a0004c0006t0005g0151 a0004c0006t0005g0161 |
3 | 348 | 0.0086 | -18 | c.459 others(35): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75638612 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02451.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0005a0001c0001t0012a0003c0007t0006 | a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0160 others(6): Show |
9 | 349 | 0.0258 | -18 | c.459 others(35): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75705924 | CCTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA18966.hp1 NA18991.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0021 | a0001c0002t0003g0345 a0001c0002t0021g0342 |
2 | 153 | 0.0131 | -18 | c.271 others(37): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 19/23 | chr6 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109614509 | GGGGCCCC others(11): Show |
G | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 402 | 0.0025 | -18 | c.-70 others(27): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 544 | chr2 | TogoVar | |||||||
SEPTIN11_chr4_76944752_77043615 | 77016599 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02015.hp2 HG03453.hp1 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015 | a0001c0001t0014g0100 a0001c0001t0015g0054 a0001c0001t0015g0055 |
3 | 368 | 0.0082 | -18 | c.687 others(35): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN1_chr16_30373135_30387561 | 30385176 | AAATAATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 NA18990.hp1 NA19005.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 |
5 | 32 | 0.1563 | -18 | c.-26 others(29): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 2616 | chr16 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19725474 | GCTGTGGA others(11): Show |
G | downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 382 | 0.0026 | -18 | c.*29 others(29): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 2156 | chr22 | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119617099 | CGTGTGTG others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01167.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0002t0006 | a0001c0001t0004g0021 a0001c0001t0004g0028 a0001c0001t0004g0210 others(10): Show |
13 | 45 | 0.2889 | -18 | c.*29 others(29): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 11/11 | 8259 | chrX | TogoVar | ||||||
SEPTIN6_chrX_119611945_119698168 | 119621446 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 52 | 0.0192 | -18 | c.*42 others(35): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 10/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119690338 | TACATACA others(11): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0204 | 1 | 192 | 0.0052 | -18 | c.30+ others(33): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 1/10 | chrX | TogoVar | |||||||
SEPTIN8_chr5_132745819_132782239 | 132770006 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03491.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0145 a0001c0002t0002g0216 |
2 | 232 | 0.0086 | -18 | c.31- others(33): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SEPTIN8_chr5_132745819_132782239 | 132770091 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 324 | 0.0031 | -18 | c.31- others(33): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77280937 | TGTGCCCG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG02257.hp1 HG02280.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0003a0001c0001t0009a0001c0001t0036others(2): Show | a0001c0001t0003g0052 a0001c0001t0003g0091 a0001c0001t0009g0143 others(3): Show |
6 | 148 | 0.0405 | -18 | c.-59 others(27): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 561 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77351228 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0009 | 1 | 20 | 0.0500 | -18 | c.76+ others(35): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77351228 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0153 | 1 | 27 | 0.0370 | -18 | c.22+ others(35): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158124772 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG02027.hp2 HG02074.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0012 a0001c0002t0003g0035 a0001c0002t0003g0260 others(12): Show |
16 | 364 | 0.0440 | -18 | c.101 others(37): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 10/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158143333 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0007 | a0007c0010 | a0007c0010t0006 | a0007c0010t0006g0187 | 1 | 330 | 0.0030 | -18 | c.610 others(33): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 7/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158143335 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0022 | a0001c0001t0012g0079 a0001c0001t0022g0313 |
2 | 328 | 0.0061 | -18 | c.610 others(33): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 7/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158143337 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02622.hp1 HG02895.hp1 others(4): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0005c0007 | a0001c0001t0001a0001c0001t0012a0001c0001t0020others(2): Show | a0001c0001t0001g0113 a0001c0001t0012g0078 a0001c0001t0020g0077 others(2): Show |
7 | 323 | 0.0217 | -18 | c.610 others(33): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 7/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158143339 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG03225.hp1 NA18522.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0002 | a0001c0001t0001g0248 a0001c0001t0001g0259 a0005c0007t0002g0240 |
3 | 347 | 0.0086 | -18 | c.610 others(33): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 7/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158143341 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | NA19065.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 339 | 0.0059 | -18 | c.610 others(33): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 7/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158143343 | CTCTCTAT others(11): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 333 | 0.0030 | -18 | c.610 others(33): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 7/16 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158169636 | TACATATA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0078 | 1 | 348 | 0.0029 | -18 | c.-15 others(29): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1375 | chr6 | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67409405 | ACACACAC others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0037 | 1 | 365 | 0.0027 | -18 | c.*37 others(29): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 8/8 | 3784 | chr1 | TogoVar | ||||||
SERF1B_chr5_70020251_70048113 | 70046392 | CCTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 17 | 0.0588 | -18 | c.*46 others(29): Show |
SERF1B | ENSG00000205572.11 | transcript | ENST00000380750.8 | protein_coding | 3280 | chr5 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17888628 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01192.hp2 HG01256.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0063 others(14): Show |
18 | 42 | 0.4286 | -18 | c.101 others(39): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17998428 | CATACATA others(11): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0002 | 1 | 222 | 0.0045 | -18 | c.508 others(35): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 5/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17998436 | CATACATA others(11): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02717.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001a0002c0003t0002 | a0001c0001t0001g0034 a0002c0003t0001g0075 a0002c0003t0002g0208 |
3 | 127 | 0.0236 | -18 | c.508 others(35): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 5/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17998440 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0138 | 1 | 153 | 0.0065 | -18 | c.508 others(35): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 5/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 18015270 | TGTGTGAG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 219 | 0.0046 | -18 | c.-22 others(29): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 2224 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 18015272 | TGTGAGAG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 198 | 0.0051 | -18 | c.-22 others(29): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 2226 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 18015274 | TGAGAGAG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(3): Show | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0002t0002g0001 others(46): Show |
50 | 94 | 0.5319 | -18 | c.-22 others(29): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 2228 | chr11 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31430212 | TGTAAAAC others(11): Show |
T | intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0339 | 1 | 374 | 0.0027 | -18 | c.101 others(35): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC5_chr5_80133727_80261048 | 80160932 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0013a0002c0003t0004a0002c0003t0011 | a0001c0001t0013g0067 a0002c0003t0004g0118 a0002c0003t0011g0119 |
3 | 284 | 0.0106 | -18 | c.860 others(35): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 7/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80197308 | TGAGAGAG others(11): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0009a0001c0001t0035a0001c0002t0023others(2): Show | a0001c0001t0009g0139 a0001c0001t0035g0060 a0001c0002t0023g0272 others(2): Show |
5 | 9 | 0.5556 | -18 | c.195 others(35): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
SERPINA11_chr14_94437464_94457800 | 94449395 | TCTTTCTT others(11): Show |
T | intron_variant | MODIFIER | HG01943.hp1 NA18943.hp1 NA18964.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0054 others(3): Show |
6 | 314 | 0.0191 | -18 | c.-3- others(31): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SERPINA11_chr14_94437464_94457800 | 94452598 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02280.hp1 HG02717.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0195 others(3): Show |
13 | 38 | 0.3421 | -18 | c.-4+ others(31): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SERPINA3_chr14_94607391_94629053 | 94613157 | CTCCCCTC others(11): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02723.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0038 a0001c0008t0001g0110 a0001c0008t0001g0111 |
4 | 470 | 0.0085 | -18 | c.-9+ others(31): Show |
SERPINA3 | ENSG00000196136.18 | transcript | ENST00000393078.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SERPINA9_chr14_94457721_94481197 | 94477874 | CCACACAC others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp1 NA21309.hp1 |
a0002a0009 | a0002c0001a0009c0012 | a0002c0001t0001a0009c0012t0002 | a0002c0001t0001g0207 a0009c0012t0002g0208 |
2 | 41 | 0.0488 | -18 | c.-17 others(29): Show |
SERPINA9 | ENSG00000170054.16 | transcript | ENST00000674397.2 | protein_coding | 1678 | chr14 | TogoVar | |||||||
SERPINB5_chr18_63471958_63510085 | 63473286 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | NA18957.hp1 NA20129.hp2 |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0004 | a0002c0004t0002g0016 a0002c0004t0004g0026 |
2 | 40 | 0.0500 | -18 | c.-37 others(29): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 3671 | chr18 | TogoVar | |||||||
SERPINB6_chr6_2943159_2976567 | 2944009 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0123 others(44): Show |
88 | 134 | 0.6567 | -18 | c.*42 others(29): Show |
SERPINB6 | ENSG00000124570.21 | transcript | ENST00000380539.7 | protein_coding | 4149 | chr6 | TogoVar | |||||||
SERPINB6_chr6_2943159_2976567 | 2944802 | TTAATTCC others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01192.hp2 HG02559.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0125 others(2): Show |
7 | 341 | 0.0205 | -18 | c.*34 others(29): Show |
SERPINB6 | ENSG00000124570.21 | transcript | ENST00000380539.7 | protein_coding | 3356 | chr6 | TogoVar | |||||||
SERPINB6_chr6_2943159_2976567 | 2972206 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(152): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0042 others(74): Show |
155 | 186 | 0.8333 | -18 | c.-70 others(27): Show |
SERPINB6 | ENSG00000124570.21 | transcript | ENST00000380539.7 | protein_coding | 640 | chr6 | TogoVar | |||||||
SERPINB7_chr18_63770418_63810370 | 63783186 | AAGAGAGA others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02698.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0004 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0136 others(2): Show |
5 | 251 | 0.0199 | -18 | c.168 others(33): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB7_chr18_63770418_63810370 | 63783226 | GAGAGAGA others(11): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0257 | 1 | 420 | 0.0024 | -18 | c.168 others(33): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |