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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERGEF_chr11_17783048_18018047 | 17998420 | AATACATA others(1): Show |
A | intron_variant | MODIFIER | HG03579.hp1 HG04228.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0002g0137 |
3 | 226 | 0.0133 | -8 | c.508 others(25): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 5/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17998436 | CATACATA others(1): Show |
C | intron_variant | MODIFIER | HG01517.hp1 HG02280.hp2 HG02647.hp1 others(15): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0007 | a0001c0001t0001a0002c0003t0001a0006c0007t0002 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 others(15): Show |
18 | 226 | 0.0797 | -8 | c.508 others(25): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 5/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17998440 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01361.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0002g0138 others(8): Show |
11 | 226 | 0.0487 | -8 | c.508 others(25): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 5/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 18015272 | TGTGAGAG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01496.hp1 HG01884.hp2 others(6): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0002others(2): Show | a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 others(6): Show |
9 | 226 | 0.0398 | -8 | c.-22 others(19): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 2226 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 18015274 | TGAGAGAG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00735.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(23): Show |
26 | 226 | 0.1150 | -8 | c.-22 others(19): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 2228 | chr11 | TogoVar | |||||||
SERHL2_chr22_42548956_42579382 | 42567340 | CTTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0080 |
3 | 432 | 0.0069 | -8 | c.648 others(25): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERHL2_chr22_42548956_42579382 | 42569839 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02145.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0014a0003c0020 | a0001c0001t0001a0002c0014t0001a0003c0020t0016 | a0001c0001t0001g0005 a0001c0001t0001g0075 a0001c0001t0001g0076 others(5): Show |
11 | 432 | 0.0255 | -8 | c.649 others(25): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERINC5_chr5_80133727_80261048 | 80173225 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(23): Show | a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0177 others(43): Show |
46 | 286 | 0.1608 | -8 | c.551 others(25): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 5/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80181416 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01261.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0003others(1): Show | a0001c0001t0001g0133 a0001c0001t0007g0249 a0001c0002t0003g0096 others(1): Show |
4 | 286 | 0.0140 | -8 | c.196 others(25): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80197308 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0026a0001c0002t0077others(2): Show | a0001c0001t0004g0021 a0001c0001t0026g0070 a0001c0001t0026g0244 others(3): Show |
6 | 286 | 0.0210 | -8 | c.195 others(25): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80222549 | GGTGAGTG others(1): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00741.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0114 a0001c0001t0006g0173 a0001c0001t0006g0174 others(5): Show |
8 | 286 | 0.0280 | -8 | c.28- others(25): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80241252 | CGAGGTCA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01168.hp1 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 others(63): Show |
66 | 286 | 0.2308 | -8 | c.27+ others(25): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80243743 | TTAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG01993.hp2 HG02004.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0011a0001c0002t0003others(1): Show | a0001c0001t0002g0025 a0001c0001t0002g0094 a0001c0001t0011g0123 others(2): Show |
5 | 286 | 0.0175 | -8 | c.27+ others(25): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80251282 | ACATACAT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00642.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0107 others(49): Show |
52 | 286 | 0.1818 | -8 | c.27+ others(23): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80251290 | GCATACAT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00733.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0039 others(44): Show |
47 | 286 | 0.1643 | -8 | c.27+ others(23): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERPINA11_chr14_94437464_94457800 | 94449405 | TATTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG01978.hp2 HG02109.hp2 others(17): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0051 others(7): Show |
20 | 452 | 0.0443 | -8 | c.-3- others(21): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SERPINA11_chr14_94437464_94457800 | 94449406 | ATTCTTTC others(1): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02155.hp1 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0170 a0001c0001t0001g0171 others(1): Show |
6 | 452 | 0.0133 | -8 | c.-3- others(21): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SERPINA11_chr14_94437464_94457800 | 94449479 | TTCTGTCT others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01346.hp1 HG01928.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0153 others(6): Show |
13 | 452 | 0.0288 | -8 | c.-3- others(21): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SERPINA11_chr14_94437464_94457800 | 94452598 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01109.hp2 HG02083.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0239 a0001c0001t0001g0240 others(7): Show |
11 | 452 | 0.0243 | -8 | c.-4+ others(21): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SERPINA3_chr14_94607391_94629053 | 94610350 | CTCTCTCT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02970.hp2 HG03579.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0022 others(3): Show |
9 | 476 | 0.0189 | -8 | c.-21 others(19): Show |
SERPINA3 | ENSG00000196136.18 | transcript | ENST00000393078.5 | protein_coding | 2040 | chr14 | TogoVar | |||||||
SERPINA3_chr14_94607391_94629053 | 94610352 | CTCTCTAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02080.hp1 HG02451.hp2 HG02895.hp2 others(7): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0020 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0002c0002t0001g0001 others(2): Show |
10 | 476 | 0.0210 | -8 | c.-21 others(19): Show |
SERPINA3 | ENSG00000196136.18 | transcript | ENST00000393078.5 | protein_coding | 2038 | chr14 | TogoVar | |||||||
SERPINA3_chr14_94607391_94629053 | 94610354 | CTCTATAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02056.hp1 HG02074.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0046 others(5): Show |
20 | 476 | 0.0420 | -8 | c.-21 others(19): Show |
SERPINA3 | ENSG00000196136.18 | transcript | ENST00000393078.5 | protein_coding | 2036 | chr14 | TogoVar | |||||||
SERPINA3_chr14_94607391_94629053 | 94610356 | CTATATAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02622.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0045 a0002c0002t0001g0001 a0002c0002t0001g0032 others(3): Show |
8 | 476 | 0.0168 | -8 | c.-20 others(19): Show |
SERPINA3 | ENSG00000196136.18 | transcript | ENST00000393078.5 | protein_coding | 2034 | chr14 | TogoVar | |||||||
SERPINA5_chr14_94576426_94598118 | 94577670 | GTGGATGG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00735.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0019a0002c0002others(4): Show | a0001c0001t0001a0001c0019t0007a0002c0002t0001others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0017 others(26): Show |
34 | 464 | 0.0733 | -8 | c.-39 others(19): Show |
SERPINA5 | ENSG00000188488.14 | transcript | ENST00000329597.12 | protein_coding | 3755 | chr14 | TogoVar | |||||||
SERPINA5_chr14_94576426_94598118 | 94577705 | GATGGATG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02109.hp2 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0004a0002c0002t0008others(1): Show | a0002c0002t0001g0126 a0002c0002t0004g0123 a0002c0002t0004g0124 others(5): Show |
8 | 464 | 0.0172 | -8 | c.-38 others(19): Show |
SERPINA5 | ENSG00000188488.14 | transcript | ENST00000329597.12 | protein_coding | 3720 | chr14 | TogoVar | |||||||
SERPINA5_chr14_94576426_94598118 | 94577717 | GATGAATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0027others(6): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 others(31): Show |
44 | 464 | 0.0948 | -8 | c.-38 others(19): Show |
SERPINA5 | ENSG00000188488.14 | transcript | ENST00000329597.12 | protein_coding | 3708 | chr14 | TogoVar | |||||||
SERPINA5_chr14_94576426_94598118 | 94577739 | TGGAAGGA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0002others(7): Show | a0001c0001t0001a0001c0012t0001a0002c0002t0001others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(77): Show |
117 | 464 | 0.2522 | -8 | c.-38 others(19): Show |
SERPINA5 | ENSG00000188488.14 | transcript | ENST00000329597.12 | protein_coding | 3686 | chr14 | TogoVar | |||||||
SERPINA5_chr14_94576426_94598118 | 94585764 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02258.hp1 HG02572.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0002c0002t0004others(3): Show | a0001c0001t0001g0050 a0001c0001t0001g0156 a0001c0001t0001g0164 others(9): Show |
13 | 464 | 0.0280 | -8 | c.-17 others(25): Show |
SERPINA5 | ENSG00000188488.14 | transcript | ENST00000329597.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SERPINA7_chrX_106027435_106043727 | 106030268 | GCTCTCTC others(1): Show |
G | downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 308 | 0.0033 | -8 | c.*32 others(19): Show |
SERPINA7 | ENSG00000123561.15 | transcript | ENST00000372563.2 | protein_coding | 2166 | chrX | TogoVar | |||||||
SERPINA9_chr14_94457721_94481197 | 94464270 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01175.hp1 others(21): Show |
a0001a0002a0004others(3): Show | a0001c0002a0002c0001a0004c0004others(3): Show | a0001c0002t0003a0002c0001t0001a0004c0004t0001others(3): Show | a0001c0002t0003g0028 a0001c0002t0003g0146 a0001c0002t0003g0175 others(17): Show |
24 | 466 | 0.0515 | -8 | c.105 others(25): Show |
SERPINA9 | ENSG00000170054.16 | transcript | ENST00000674397.2 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
SERPINA9_chr14_94457721_94481197 | 94477874 | CCACACAC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(94): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0005a0002c0001others(13): Show | a0001c0002t0001a0001c0002t0003a0001c0005t0001others(16): Show | a0001c0002t0001g0333 a0001c0002t0003g0001 a0001c0002t0003g0031 others(68): Show |
97 | 466 | 0.2082 | -8 | c.-17 others(19): Show |
SERPINA9 | ENSG00000170054.16 | transcript | ENST00000674397.2 | protein_coding | 1678 | chr14 | TogoVar | |||||||
SERPINB10_chr18_63902958_63941111 | 63929712 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02717.hp2 HG02723.hp2 others(6): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0003c0004others(1): Show | a0002c0002t0002a0003c0003t0004a0003c0004t0005others(1): Show | a0002c0002t0002g0071 a0003c0003t0004g0103 a0003c0004t0005g0085 others(3): Show |
9 | 388 | 0.0232 | -8 | c.491 others(23): Show |
SERPINB10 | ENSG00000242550.7 | transcript | ENST00000238508.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB11_chr18_63697960_63728893 | 63699517 | TAGAGAGA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(195): Show |
a0001a0002a0003others(8): Show | a0001c0002a0002c0001a0002c0008others(12): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0003others(15): Show | a0001c0002t0001g0088 a0002c0001t0001g0002 a0002c0001t0001g0008 others(75): Show |
198 | 422 | 0.4692 | -8 | c.-35 others(19): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 3442 | chr18 | TogoVar | |||||||
SERPINB11_chr18_63697960_63728893 | 63728786 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02074.hp1 HG02148.hp1 others(3): Show |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0001a0003c0003t0001 | a0002c0001t0001g0002 a0002c0001t0001g0024 a0002c0001t0001g0032 others(2): Show |
6 | 422 | 0.0142 | -8 | c.*53 others(19): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 4894 | chr18 | TogoVar | |||||||
SERPINB12_chr18_63537369_63574329 | 63559065 | TCTTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(168): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(99): Show |
171 | 402 | 0.4254 | -8 | c.304 others(23): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB12_chr18_63537369_63574329 | 63574065 | CAAAAACA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG02723.hp2 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0020 a0004c0005t0007g0100 a0004c0005t0007g0103 others(1): Show |
7 | 402 | 0.0174 | -8 | c.*70 others(19): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 4737 | chr18 | TogoVar | |||||||
SERPINB12_chr18_63537369_63574329 | 63574067 | AAAACAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01175.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0015others(1): Show | a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 others(9): Show |
13 | 402 | 0.0323 | -8 | c.*70 others(19): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 4739 | chr18 | TogoVar | |||||||
SERPINB13_chr18_63582343_63604192 | 63595902 | TTAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(201): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0015 others(78): Show |
204 | 440 | 0.4636 | -8 | c.771 others(23): Show |
SERPINB13 | ENSG00000197641.12 | transcript | ENST00000344731.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB1_chr6_2827332_2846863 | 2837050 | CAAGTCAG others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01167.hp1 HG01169.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020a0001c0001t0024 | a0001c0001t0003g0005 a0001c0001t0020g0043 a0001c0001t0024g0044 |
14 | 478 | 0.0293 | -8 | c.425 others(23): Show |
SERPINB1 | ENSG00000021355.13 | transcript | ENST00000380739.6 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
SERPINB7_chr18_63770418_63810370 | 63777879 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02015.hp2 HG02135.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0003g0206 |
3 | 432 | 0.0069 | -8 | c.-19 others(25): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB7_chr18_63770418_63810370 | 63783186 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01928.hp2 HG01943.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0323 a0001c0001t0002g0003 a0001c0001t0002g0134 others(18): Show |
23 | 432 | 0.0532 | -8 | c.168 others(23): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB7_chr18_63770418_63810370 | 63783232 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG02056.hp2 HG02896.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0006 | a0001c0001t0001g0023 a0001c0001t0001g0348 a0001c0001t0001g0349 others(3): Show |
7 | 432 | 0.0162 | -8 | c.168 others(23): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB8_chr18_63965081_63994374 | 63967130 | AGACTCTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(124): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0010others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(55): Show | a0001c0001t0001g0017 a0001c0001t0003g0007 a0001c0001t0003g0017 others(88): Show |
127 | 466 | 0.2725 | -8 | c.-30 others(19): Show |
SERPINB8 | ENSG00000166401.15 | transcript | ENST00000397985.7 | protein_coding | 2950 | chr18 | TogoVar | |||||||
SERPINB9_chr6_2882270_2908309 | 2907193 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | NA18982.hp2 NA19002.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0152 | a0001c0001t0005g0343 a0001c0001t0009g0040 a0001c0001t0152g0347 |
3 | 462 | 0.0065 | -8 | c.-40 others(19): Show |
SERPINB9 | ENSG00000170542.6 | transcript | ENST00000380698.5 | protein_coding | 3885 | chr6 | TogoVar | |||||||
SERPIND1_chr22_20769113_20792720 | 20770579 | GACACACA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01175.hp2 others(30): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(21): Show |
33 | 412 | 0.0801 | -8 | c.-35 others(19): Show |
SERPIND1 | ENSG00000099937.11 | transcript | ENST00000215727.10 | protein_coding | 3533 | chr22 | TogoVar | |||||||
SERPIND1_chr22_20769113_20792720 | 20771565 | CTTTATTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0096 others(6): Show |
22 | 412 | 0.0534 | -8 | c.-25 others(19): Show |
SERPIND1 | ENSG00000099937.11 | transcript | ENST00000215727.10 | protein_coding | 2547 | chr22 | TogoVar | |||||||
SERPIND1_chr22_20769113_20792720 | 20790699 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02258.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(4): Show |
13 | 412 | 0.0316 | -8 | c.*36 others(19): Show |
SERPIND1 | ENSG00000099937.11 | transcript | ENST00000215727.10 | protein_coding | 2980 | chr22 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101135257 | GAGAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(78): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0026 others(67): Show |
81 | 436 | 0.1858 | -8 | c.900 others(23): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101135261 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01517.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0033a0002c0003t0003others(1): Show | a0001c0001t0004g0018 a0001c0001t0033g0093 a0002c0003t0003g0348 others(3): Show |
8 | 436 | 0.0184 | -8 | c.900 others(23): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101136404 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01123.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0038 others(24): Show |
36 | 436 | 0.0826 | -8 | c.108 others(25): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |