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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRGAP2B_chr1_144882288_145100328 | 145068893 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02015.hp1 HG03831.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0040 a0001c0001t0002g0002 a0001c0001t0003g0016 others(2): Show |
5 | 7 | 0.7143 | -8 | c.67+ others(25): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121223351 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0005a0008 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0106 a0001c0001t0001g0107 others(130): Show |
134 | 148 | 0.9054 | -8 | c.67+ others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121239178 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01516.hp1 HG01517.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0021 others(7): Show |
10 | 224 | 0.0446 | -8 | c.68- others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121261094 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0048a0001c0003t0050 | a0001c0003t0004g0252 a0001c0003t0004g0255 a0001c0003t0004g0256 others(10): Show |
13 | 56 | 0.2321 | -8 | c.68- others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121335340 | CAAAAAAT others(1): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02976.hp1 HG03195.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0107 a0001c0001t0001g0196 a0001c0001t0001g0206 others(5): Show |
8 | 264 | 0.0303 | -8 | c.423 others(27): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121354261 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02071.hp1 HG02451.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(1): Show | a0002c0002t0002g0016 a0002c0002t0002g0021 a0002c0002t0002g0062 others(8): Show |
11 | 196 | 0.0561 | -8 | c.424 others(27): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121372898 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02738.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0040a0001c0005t0049 | a0001c0001t0001g0186 a0001c0001t0001g0214 a0001c0001t0040g0215 others(1): Show |
4 | 272 | 0.0147 | -8 | c.487 others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206241911 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0014 | a0001c0001t0001g0002 a0001c0003t0014g0003 |
2 | 66 | 0.0303 | -8 | c.67+ others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206303869 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0005a0001c0003t0006a0001c0006t0009 | a0001c0003t0005g0161 a0001c0003t0006g0165 a0001c0006t0009g0001 others(3): Show |
6 | 173 | 0.0347 | -8 | c.260 others(23): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206303884 | TCTCTCAC others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01884.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0004others(3): Show | a0001c0001t0001g0099 a0001c0001t0001g0144 a0001c0001t0001g0167 others(14): Show |
17 | 171 | 0.0994 | -8 | c.260 others(23): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206370266 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG02145.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0006a0001c0005t0001 | a0001c0002t0006g0142 a0001c0005t0001g0006 a0001c0005t0001g0116 others(3): Show |
6 | 133 | 0.0451 | -8 | c.424 others(27): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206389165 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00738.hp2 others(36): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(7): Show | a0001c0002t0002g0025 a0001c0002t0002g0068 a0001c0002t0004g0070 others(36): Show |
39 | 95 | 0.4105 | -8 | c.487 others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206418888 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 HG02922.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0004others(1): Show | a0001c0001t0001g0054 a0001c0001t0001g0144 a0001c0001t0001g0167 others(7): Show |
10 | 85 | 0.1176 | -8 | c.144 others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP3_chr3_8975591_9254646 | 9030153 | AAATGAAT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0021 a0001c0001t0001g0058 a0001c0001t0001g0062 others(33): Show |
36 | 197 | 0.1827 | -8 | c.153 others(27): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 12/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9055885 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp2 HG03453.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0004a0001c0002t0007a0001c0009t0012 | a0001c0002t0004g0037 a0001c0002t0007g0075 a0001c0009t0012g0068 |
3 | 112 | 0.0268 | -8 | c.112 others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 8/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9064861 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01069.hp2 others(30): Show |
a0001a0007 | a0001c0001a0001c0006a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0049 others(30): Show |
33 | 121 | 0.2727 | -8 | c.487 others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 4/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9071640 | GTGGATGG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(35): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(35): Show |
38 | 124 | 0.3065 | -8 | c.487 others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 4/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9096937 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01109.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0062 others(13): Show |
16 | 82 | 0.1951 | -8 | c.423 others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 3/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9096974 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0090 a0001c0001t0002g0056 |
2 | 226 | 0.0088 | -8 | c.423 others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 3/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9126618 | AAACTAAC others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(59): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0025 others(59): Show |
62 | 193 | 0.3212 | -8 | c.68- others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9126641 | CTAACTAA others(1): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03453.hp1 NA18975.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0004a0001c0009t0012 | a0001c0001t0002g0109 a0001c0001t0004g0078 a0001c0009t0012g0068 |
3 | 226 | 0.0133 | -8 | c.68- others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9126645 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(13): Show |
a0001a0003a0004 | a0001c0001a0003c0008a0004c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 others(13): Show |
16 | 182 | 0.0879 | -8 | c.68- others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9141553 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02683.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007 | a0001c0001t0002g0026 a0001c0001t0002g0148 a0001c0001t0005g0076 others(1): Show |
4 | 62 | 0.0645 | -8 | c.68- others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9183767 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0023others(4): Show | a0001c0001t0002g0016 a0001c0001t0004g0078 a0001c0001t0004g0120 others(5): Show |
8 | 80 | 0.1000 | -8 | c.68- others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9197608 | GTGACAGA others(1): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG01433.hp1 HG01496.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0002g0046 a0001c0001t0002g0063 a0001c0001t0002g0224 others(7): Show |
10 | 226 | 0.0442 | -8 | c.67+ others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4199364 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(53): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0199 others(53): Show |
56 | 94 | 0.5957 | -8 | c.260 others(25): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 3/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4201637 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(208): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(206): Show |
211 | 303 | 0.6964 | -8 | c.259 others(25): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 3/5 | chr16 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 34981184 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01167.hp1 HG01169.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0051 others(7): Show |
10 | 19 | 0.5263 | -8 | c.-20 others(19): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1807 | chr14 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 34995134 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01361.hp2 HG01496.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0090 a0001c0001t0001g0095 others(9): Show |
12 | 156 | 0.0769 | -8 | c.-33 others(25): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP54_chr14_34977992_35034567 | 34999006 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0023 a0001c0001t0002g0267 a0001c0001t0002g0273 others(40): Show |
44 | 392 | 0.1122 | -8 | c.79- others(21): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 2/15 | chr14 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 35000562 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(91): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0006a0001c0002t0003others(1): Show | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(85): Show |
94 | 279 | 0.3369 | -8 | c.171 others(23): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76040037 | CTCACTCA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0146 a0001c0001t0002g0182 others(1): Show |
5 | 364 | 0.0137 | -8 | c.165 others(25): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 15/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062729 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03486.hp1 NA18945.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0004 | a0001c0001t0002g0146 a0001c0001t0002g0157 a0001c0002t0001g0016 others(3): Show |
7 | 72 | 0.0972 | -8 | c.562 others(25): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP72_chr4_56462617_56508681 | 56506527 | GCAGGCCC others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(61): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0006a0001c0001t0017a0001c0003t0002others(4): Show | a0001c0001t0006g0037 a0001c0001t0006g0151 a0001c0001t0006g0152 others(52): Show |
64 | 386 | 0.1658 | -8 | c.*46 others(19): Show |
SRP72 | ENSG00000174780.17 | transcript | ENST00000642900.1 | protein_coding | 2847 | chr4 | TogoVar | |||||||
SRP72_chr4_56462617_56508681 | 56506786 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02293.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0001t0020a0001c0004t0004 | a0001c0001t0012g0256 a0001c0001t0012g0257 a0001c0001t0012g0258 others(2): Show |
5 | 141 | 0.0355 | -8 | c.*49 others(19): Show |
SRP72 | ENSG00000174780.17 | transcript | ENST00000642900.1 | protein_coding | 3106 | chr4 | TogoVar | |||||||
SRP9_chr1_225772826_225795464 | 225784229 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0164 others(21): Show |
74 | 96 | 0.7708 | -8 | c.141 others(23): Show |
SRP9 | ENSG00000143742.14 | transcript | ENST00000304786.12 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRPK1_chr6_35827966_35926098 | 35832248 | ATATTTAT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02717.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 |
3 | 123 | 0.0244 | -8 | c.*30 others(19): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 717 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35885260 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG04199.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0074 a0001c0001t0001g0099 a0001c0001t0001g0180 others(1): Show |
4 | 192 | 0.0208 | -8 | c.478 others(25): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 6/15 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35885296 | CACAGAGA others(1): Show |
C | intron_variant | MODIFIER | NA18941.hp1 NA18970.hp2 NA18981.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0314 |
3 | 324 | 0.0093 | -8 | c.478 others(25): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 6/15 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35913969 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01516.hp2 HG01891.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0055 others(13): Show |
17 | 199 | 0.0854 | -8 | c.74+ others(23): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 2/15 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35915995 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG01515.hp1 NA18951.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0088 a0001c0001t0001g0164 a0001c0001t0012g0154 |
3 | 292 | 0.0103 | -8 | c.74+ others(23): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 2/15 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35915997 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01358.hp1 HG01516.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0059 others(17): Show |
24 | 184 | 0.1304 | -8 | c.74+ others(23): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 2/15 | chr6 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105170782 | CGGGAGGG others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02055.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 others(9): Show |
12 | 253 | 0.0474 | -8 | c.230 others(25): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105170836 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01256.hp2 HG02109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0080 a0001c0001t0001g0120 others(10): Show |
13 | 142 | 0.0915 | -8 | c.230 others(25): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105170916 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01952.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0084 |
3 | 265 | 0.0113 | -8 | c.230 others(25): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105205515 | TCTCACAC others(1): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0212 others(6): Show |
9 | 167 | 0.0539 | -8 | c.72- others(23): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105205517 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01071.hp1 HG01074.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 others(15): Show |
18 | 160 | 0.1125 | -8 | c.72- others(23): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105225179 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(86): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 others(86): Show |
89 | 273 | 0.3260 | -8 | c.72- others(25): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105233083 | GGAAGGAA others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02056.hp2 HG02572.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0241 a0001c0001t0001g0255 a0001c0001t0001g0263 others(3): Show |
6 | 280 | 0.0214 | -8 | c.72- others(25): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105233091 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01074.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0028 others(40): Show |
43 | 91 | 0.4725 | -8 | c.72- others(25): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar |