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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SQSTM1_chr5_179815905_179843078 | 179843059 | A | AAGGAAGG others(13): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152 | 1 | 462 | 0.0022 | 20 | c.*64 others(31): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 4982 | chr5 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415677 | G | GGGACGGG others(13): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0066 | 1 | 358 | 0.0028 | 20 | c.233 others(39): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415687 | G | GGGAGAGG others(13): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 358 | 0.0028 | 20 | c.233 others(39): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415748 | C | CGAGAGGA others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 358 | 0.0028 | 20 | c.233 others(39): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45509598 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 358 | 0.0028 | 20 | c.187 others(41): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45571516 | C | CCAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 358 | 0.0028 | 20 | c.130 others(39): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45571517 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01978.hp1 NA18940.hp1 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 others(7): Show |
10 | 358 | 0.0279 | 20 | c.130 others(39): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45571518 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01243.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0002g0129 others(7): Show |
10 | 358 | 0.0279 | 20 | c.130 others(39): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45571519 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 358 | 0.0028 | 20 | c.130 others(39): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38541241 | A | AAAAATAA others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02896.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0011a0001c0006t0034 | a0001c0006t0011g0083 a0001c0006t0011g0110 a0001c0006t0011g0123 others(2): Show |
5 | 261 | 0.0192 | 20 | c.341 others(39): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 18/18 | chr17 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38566866 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02132.hp1 HG02257.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0017others(4): Show | a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0194 others(9): Show |
13 | 261 | 0.0498 | 20 | c.345 others(37): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 3/18 | chr17 | TogoVar | |||||||
SRC_chr20_37341140_37411050 | 37361834 | T | TGCCGGGG others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0190 a0001c0001t0013g0051 |
2 | 282 | 0.0071 | 20 | c.-24 others(39): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRC_chr20_37341140_37411050 | 37361870 | T | TGCCGGGG others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0099 a0001c0001t0013g0051 |
2 | 282 | 0.0071 | 20 | c.-24 others(39): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRD5A2_chr2_31517480_31585938 | 31526104 | C | CATATATA others(13): Show |
3_prime_UTR_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0333 | 1 | 386 | 0.0026 | 20 | c.*91 others(27): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 5/5 | 91 | chr2 | TogoVar | ||||||
SREBF1_chr17_17806334_17841986 | 17829205 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 352 | 0.0028 | 20 | c.91+ others(35): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17829205 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 352 | 0.0028 | 20 | c.91+ others(35): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17829205 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 352 | 0.0028 | 20 | c.91+ others(35): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17834025 | C | CAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0009g0127 others(3): Show |
6 | 352 | 0.0171 | 20 | c.91+ others(35): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41906182 | T | TCTGCGTT others(13): Show |
3_prime_UTR_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0179 | 1 | 336 | 0.0030 | 20 | c.*52 others(29): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 19/19 | 546 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SREK1IP1_chr5_64713148_64773691 | 64727553 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03139.hp1 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0068 a0001c0003t0008g0069 a0001c0003t0008g0071 |
3 | 342 | 0.0088 | 20 | c.278 others(35): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SRFBP1_chr5_121956975_122033633 | 121961746 | C | CACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 228 | 0.0044 | 20 | c.-28 others(29): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 228 | chr5 | TogoVar | |||||||
SRF_chr6_43166269_43186506 | 43177228 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0055 | 1 | 356 | 0.0028 | 20 | c.116 others(37): Show |
SRF | ENSG00000112658.8 | transcript | ENST00000265354.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63919499 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0045 | a0001c0001t0010g0157 a0001c0002t0045g0082 |
2 | 170 | 0.0118 | 20 | c.68- others(37): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63919527 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0006 | a0001c0006t0150 | a0001c0006t0150g0167 | 1 | 170 | 0.0059 | 20 | c.68- others(37): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64039628 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19084.hp1 |
a0001 | a0001c0002 | a0001c0002t0025a0001c0002t0032 | a0001c0002t0025g0146 a0001c0002t0032g0147 |
2 | 170 | 0.0118 | 20 | c.490 others(37): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64044674 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18984.hp2 |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0066 | a0001c0002t0018g0068 a0001c0002t0066g0104 |
2 | 170 | 0.0118 | 20 | c.801 others(37): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64072108 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0079 | 1 | 170 | 0.0059 | 20 | c.112 others(39): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121285404 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0009 | a0009c0008 | a0009c0008t0052 | a0009c0008t0052g0273 | 1 | 274 | 0.0037 | 20 | c.260 others(35): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121331144 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0226 | 1 | 274 | 0.0037 | 20 | c.423 others(37): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206353697 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG02055.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0005others(9): Show | a0001c0001t0001g0053 a0001c0001t0001g0133 a0001c0001t0001g0145 others(26): Show |
29 | 182 | 0.1593 | 20 | c.423 others(39): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP3_chr3_8975591_9254646 | 8988556 | A | AGTGCATT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0049 | a0001c0001t0002g0016 a0001c0001t0049g0084 |
2 | 228 | 0.0088 | 20 | c.288 others(39): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 21/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9123732 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01069.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0006t0002 | a0001c0001t0001g0028 a0001c0005t0001g0007 a0001c0006t0002g0029 |
3 | 228 | 0.0132 | 20 | c.260 others(35): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 2/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9141551 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0032 | 1 | 228 | 0.0044 | 20 | c.68- others(37): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9164276 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01069.hp2 others(22): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0059 others(22): Show |
25 | 228 | 0.1097 | 20 | c.68- others(37): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4204406 | T | TAGATACA others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0028a0001c0002t0005 | a0001c0001t0028g0183 a0001c0002t0005g0160 |
2 | 358 | 0.0056 | 20 | c.163 others(35): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 2/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4220278 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0279 |
2 | 358 | 0.0056 | 20 | c.62- others(37): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4222647 | C | CCCCAGGA others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01192.hp2 HG01361.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0062 others(40): Show |
43 | 358 | 0.1201 | 20 | c.62- others(37): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4227051 | A | AATGGATG others(13): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0043 | 1 | 358 | 0.0028 | 20 | c.61+ others(37): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRP14_chr15_40030690_40044181 | 40037279 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 426 | 0.0024 | 20 | c.211 others(35): Show |
SRP14 | ENSG00000140319.11 | transcript | ENST00000267884.11 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 35014290 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00621.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0284 others(24): Show |
29 | 396 | 0.0732 | 20 | c.886 others(35): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76070850 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 365 | 0.0027 | 20 | c.185 others(35): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SRP72_chr4_56462617_56508681 | 56484026 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0189 | 1 | 388 | 0.0026 | 20 | c.958 others(35): Show |
SRP72 | ENSG00000174780.17 | transcript | ENST00000642900.1 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRPK1_chr6_35827966_35926098 | 35832248 | A | ATATTTAT others(13): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02615.hp1 NA18973.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0247 a0001c0002t0002g0272 a0001c0002t0002g0313 others(1): Show |
4 | 342 | 0.0117 | 20 | c.*30 others(31): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 717 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35880742 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01081.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(14): Show |
17 | 342 | 0.0497 | 20 | c.478 others(37): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 6/15 | chr6 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105159448 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01952.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0229 a0001c0001t0002g0239 a0001c0001t0002g0262 |
3 | 282 | 0.0106 | 20 | c.621 others(37): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 7/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105168745 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01168.hp1 HG01243.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 others(12): Show |
15 | 282 | 0.0532 | 20 | c.338 others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 4/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105170745 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00639.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0131 others(23): Show |
26 | 282 | 0.0922 | 20 | c.230 others(37): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105170836 | G | GAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 282 | 0.0036 | 20 | c.230 others(37): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105233091 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 282 | 0.0036 | 20 | c.72- others(37): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPX2_chrX_100639199_100680788 | 100657349 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0136 | 1 | 318 | 0.0031 | 20 | c.164 others(37): Show |
SRPX2 | ENSG00000102359.9 | transcript | ENST00000373004.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar |