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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRGAP1_chr12_63839700_64167217 | 64150934 | C | CAAAAAAA others(8): Show |
3_prime_UTR_variant | MODIFIER | NA18952.hp2 NA19079.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0114a0001c0001t0117a0001c0001t0121 | a0001c0001t0114g0142 a0001c0001t0117g0078 a0001c0001t0121g0069 |
3 | 67 | 0.0448 | 15 | c.*82 others(26): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 22/22 | 8289 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SRGAP2C_chr1_121179975_121397874 | 121235626 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02738.hp2 HG02970.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0045others(1): Show | a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0176 others(3): Show |
6 | 94 | 0.0638 | 15 | c.67+ others(32): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121239231 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0101 | 1 | 252 | 0.0040 | 15 | c.68- others(32): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121239233 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03516.hp2 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0097 a0002c0002t0002g0102 |
2 | 271 | 0.0074 | 15 | c.68- others(32): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121331144 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0145 a0001c0001t0006g0146 |
2 | 39 | 0.0513 | 15 | c.423 others(32): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206279581 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01123.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0019a0001c0002t0002others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0102 a0001c0001t0019g0157 others(26): Show |
29 | 79 | 0.3671 | 15 | c.68- others(32): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206359798 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03540.hp1 |
a0001 | a0001c0003 | a0001c0003t0010a0001c0003t0021 | a0001c0003t0010g0158 a0001c0003t0021g0129 |
2 | 37 | 0.0541 | 15 | c.423 others(34): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGN_chr10_69083103_69109805 | 69095911 | C | CAATAAAA others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02896.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0012 | a0001c0001t0001g0067 a0001c0006t0012g0097 |
2 | 178 | 0.0112 | 15 | c.80- others(30): Show |
SRGN | ENSG00000122862.5 | transcript | ENST00000242465.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SRGN_chr10_69083103_69109805 | 69096321 | A | ATTTGGCT others(8): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0158 | 1 | 408 | 0.0025 | 15 | c.80- others(28): Show |
SRGN | ENSG00000122862.5 | transcript | ENST00000242465.4 | protein_coding | 1/2 | chr10 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4213404 | C | CTTTTTCT others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01192.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0028 others(37): Show |
40 | 257 | 0.1556 | 15 | c.62- others(30): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRM_chr1_11049589_11065018 | 11056119 | C | CTGAACAG others(8): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 344 | 0.0029 | 15 | c.536 others(28): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
SRP14_chr15_40030690_40044181 | 40037279 | G | GGAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0003t0003g0063 |
4 | 72 | 0.0556 | 15 | c.211 others(30): Show |
SRP14 | ENSG00000140319.11 | transcript | ENST00000267884.11 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
SRP19_chr5_112856287_112874788 | 112874635 | C | CCCAACAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0013 | 1 | 406 | 0.0025 | 15 | c.*70 others(26): Show |
SRP19 | ENSG00000153037.15 | transcript | ENST00000505459.6 | protein_coding | 4848 | chr5 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76070880 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 358 | 0.0028 | 15 | c.185 others(30): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SRP72_chr4_56462617_56508681 | 56484026 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18967.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0193 a0001c0004t0004g0203 |
2 | 135 | 0.0148 | 15 | c.958 others(30): Show |
SRP72 | ENSG00000174780.17 | transcript | ENST00000642900.1 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRPK1_chr6_35827966_35926098 | 35830704 | G | GTGTGTGT others(8): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0238 | 1 | 136 | 0.0074 | 15 | c.*45 others(26): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 2261 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35880742 | A | AAAAAAAG others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01255.hp1 HG02080.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0200 others(6): Show |
9 | 96 | 0.0938 | 15 | c.478 others(32): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 6/15 | chr6 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105124640 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01928.hp2 HG02056.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045 a0001c0001t0001g0230 a0001c0001t0001g0232 others(10): Show |
13 | 86 | 0.1512 | 15 | c.191 others(34): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 15/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105159448 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01071.hp2 HG01109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0236 others(8): Show |
11 | 163 | 0.0675 | 15 | c.621 others(32): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 7/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105288622 | A | ATATATAA others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0227 | 1 | 280 | 0.0036 | 15 | c.72- others(32): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105331308 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0098 |
2 | 40 | 0.0500 | 15 | c.71+ others(32): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105364405 | G | GAGTTTTT others(8): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03491.hp2 NA18955.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 others(6): Show |
9 | 184 | 0.0489 | 15 | c.71+ others(32): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK3_chrX_153776041_153790730 | 153776675 | T | TGGGGCGG others(8): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG03453.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0002a0002c0005t0001 | a0001c0002t0002g0002 a0002c0005t0001g0007 |
8 | 305 | 0.0262 | 15 | c.-44 others(26): Show |
SRPK3 | ENSG00000184343.11 | transcript | ENST00000370101.8 | protein_coding | 4365 | chrX | TogoVar | |||||||
SRPRA_chr11_126257938_126273895 | 126259310 | A | ATTGTCTT others(8): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 394 | 0.0025 | 15 | c.*45 others(26): Show |
SRPRA | ENSG00000182934.12 | transcript | ENST00000332118.11 | protein_coding | 3627 | chr11 | TogoVar | |||||||
SRPX2_chrX_100639199_100680788 | 100657349 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18952.hp1 NA18964.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0005 a0001c0001t0001g0070 a0001c0001t0001g0076 others(2): Show |
7 | 21 | 0.3333 | 15 | c.164 others(32): Show |
SRPX2 | ENSG00000102359.9 | transcript | ENST00000373004.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SRRD_chr22_26478877_26499658 | 26490559 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00735.hp1 others(40): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0027others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0020 others(6): Show |
43 | 100 | 0.4300 | 15 | c.764 others(30): Show |
SRRD | ENSG00000100104.13 | transcript | ENST00000215917.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SRRM1_chr1_24638302_24678281 | 24640519 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 | 1 | 115 | 0.0087 | 15 | c.-28 others(26): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 2782 | chr1 | TogoVar | |||||||
SRRM1_chr1_24638302_24678281 | 24667965 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01884.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 a0001c0002t0001g0271 a0001c0002t0001g0272 others(1): Show |
5 | 146 | 0.0342 | 15 | c.173 others(34): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRRM1_chr1_24638302_24678281 | 24676051 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG02895.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0008 | a0001c0003t0003g0019 a0001c0003t0008g0209 |
2 | 128 | 0.0156 | 15 | c.*37 others(26): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 2771 | chr1 | TogoVar | |||||||
SRRM3_chr7_76196896_76292287 | 76198642 | T | TGAATATA others(8): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 322 | 0.0031 | 15 | c.-34 others(26): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 3253 | chr7 | TogoVar | |||||||
SRRM3_chr7_76196896_76292287 | 76221359 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0266 | 1 | 138 | 0.0072 | 15 | c.-39 others(34): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76236005 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG01243.hp1 others(5): Show |
a0001a0011 | a0001c0001a0001c0005a0011c0015 | a0001c0001t0001a0001c0001t0002a0001c0005t0005others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0071 a0001c0001t0001g0144 others(5): Show |
8 | 124 | 0.0645 | 15 | c.233 others(30): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76277746 | G | GAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02970.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0002c0016a0006c0012 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0084 a0001c0001t0001g0125 a0001c0001t0001g0139 others(7): Show |
10 | 120 | 0.0833 | 15 | c.100 others(34): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76283868 | T | TGGCTGGG others(8): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 322 | 0.0031 | 15 | c.173 others(32): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119126014 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG03688.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0069a0002c0002t0002others(1): Show | a0001c0001t0001g0246 a0001c0009t0069g0108 a0002c0002t0002g0270 others(1): Show |
4 | 80 | 0.0500 | 15 | c.614 others(30): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119136470 | G | GTTTGTTT others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03209.hp2 |
a0003 | a0003c0003 | a0003c0003t0007a0003c0003t0045 | a0003c0003t0007g0084 a0003c0003t0045g0053 |
2 | 314 | 0.0064 | 15 | c.771 others(32): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119165469 | A | AAGCAAAG others(8): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 326 | 0.0031 | 15 | c.*86 others(26): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 2419 | chr12 | TogoVar | |||||||
SRSF11_chr1_70216380_70258052 | 70242472 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02683.hp2 HG03927.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0003t0010 | a0001c0001t0004g0096 a0001c0001t0004g0098 a0001c0001t0005g0045 others(2): Show |
5 | 206 | 0.0243 | 15 | c.801 others(32): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRSF1_chr17_57995919_58012246 | 58011840 | C | CAGCTGAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 340 | 0.0029 | 15 | c.-47 others(26): Show |
SRSF1 | ENSG00000136450.13 | transcript | ENST00000258962.5 | protein_coding | 4595 | chr17 | TogoVar | |||||||
SRSF3_chr6_36589362_36610600 | 36592057 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 NA18942.hp1 NA18957.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020 | a0001c0001t0006g0038 a0001c0001t0006g0151 a0001c0001t0006g0152 others(1): Show |
4 | 134 | 0.0299 | 15 | c.-24 others(26): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 2304 | chr6 | TogoVar | |||||||
SRSF3_chr6_36589362_36610600 | 36596574 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02071.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0002g0037 a0001c0001t0002g0138 a0001c0001t0003g0156 others(2): Show |
6 | 72 | 0.0833 | 15 | c.-2- others(28): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF3_chr6_36589362_36610600 | 36596579 | G | GGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 379 | 0.0026 | 15 | c.-2- others(28): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF3_chr6_36589362_36610600 | 36596582 | G | GGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 380 | 0.0026 | 15 | c.-2- others(28): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF4_chr1_29142743_29186900 | 29159108 | A | ACAAACCA others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0320 | 1 | 152 | 0.0066 | 15 | c.363 others(30): Show |
SRSF4 | ENSG00000116350.18 | transcript | ENST00000373795.7 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
SRSF4_chr1_29142743_29186900 | 29170703 | A | AAGTCCAT others(8): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0190 | 1 | 366 | 0.0027 | 15 | c.108 others(34): Show |
SRSF4 | ENSG00000116350.18 | transcript | ENST00000373795.7 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
SRSF4_chr1_29142743_29186900 | 29178353 | C | CTTCTTTT others(8): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01934.hp2 HG03017.hp1 others(2): Show |
a0003a0004a0005 | a0003c0003a0004c0006a0005c0005 | a0003c0003t0001a0004c0006t0001a0005c0005t0001 | a0003c0003t0001g0310 a0003c0003t0001g0312 a0003c0003t0001g0313 others(2): Show |
5 | 130 | 0.0385 | 15 | c.107 others(32): Show |
SRSF4 | ENSG00000116350.18 | transcript | ENST00000373795.7 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
SRSF6_chr20_43452896_43469243 | 43461334 | G | GTTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015 | a0001c0001t0010g0001 a0001c0001t0015g0001 |
3 | 308 | 0.0097 | 15 | c.*27 others(24): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 6/6 | 274 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SRSF8_chr11_95061919_95076225 | 95070368 | C | CAAAAAAA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp2 HG02738.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0034a0001c0002t0013 | a0001c0001t0013g0000 a0001c0001t0034g0000 a0001c0002t0013g0000 |
9 | 12 | 0.7500 | 15 | c.*22 others(26): Show |
SRSF8 | ENSG00000263465.5 | transcript | ENST00000587424.3 | protein_coding | 1/1 | 2310 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SRXN1_chr20_641615_658200 | 646515 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 11 | 0.0909 | 15 | c.*21 others(26): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 99 | chr20 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62146605 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0260 | 1 | 46 | 0.0217 | 15 | c.69+ others(30): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |