regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STX1B_chr16_30984256_31015638 | 31013334 | CCTCTTCC others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0118a0001c0001t0007g0134 | 2 | 282 | 0.0071 | -19 | c.-29 others(30): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2697 | chr16 | TogoVar | ||||||
STX6_chr1_180967725_181027870 | 181018388 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02280.hp1 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029a0001c0002t0002g0030 | 2 | 350 | 0.0057 | -19 | c.35+ others(34): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
STX6_chr1_180967725_181027870 | 181023095 | CCTCTCTC others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG02965.hp2 HG04115.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0221a0001c0002t0002g0265a0001c0002t0006g0204others(1): Show | 4 | 350 | 0.0114 | -19 | c.-44 others(28): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 226 | chr1 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9309985 | ATAGTCAA others(12): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp1 HG01884.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0094a0001c0001t0001g0096a0001c0001t0001g0126others(41): Show | 44 | 188 | 0.2340 | -19 | c.644 others(38): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771565 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 334 | 0.0030 | -19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | chr1 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771681 | GATATCTA others(12): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 334 | 0.0030 | -19 | c.439 others(34): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STXBP3_chr1_108741674_108814523 | 108771717 | GATATCTA others(12): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG01167.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005a0001c0002t0001g0288a0001c0002t0001g0289 | 5 | 334 | 0.0150 | -19 | c.439 others(34): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STXBP5_chr6_147199417_147395473 | 147372406 | CCTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp2 NA18998.hp2 others(1): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0007a0002c0002t0002 | a0001c0004t0007g0013a0002c0002t0002g0111a0002c0002t0002g0126others(1): Show | 4 | 350 | 0.0114 | -19 | c.308 others(38): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | TogoVar | ||||||
STYK1_chr12_10613923_10679052 | 10663620 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0128 | 1 | 368 | 0.0027 | -19 | c.-19 others(40): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
STYXL1_chr7_75991342_76053000 | 76026191 | CCAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 |
a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0025a0004c0007t0004g0026 | 2 | 356 | 0.0056 | -19 | c.165 others(36): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 3/8 | chr7 | TogoVar | ||||||
SUCLG2_chr3_67369719_67659612 | 67409085 | AATGGGTT others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(61): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0016a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0022others(61): Show | 64 | 280 | 0.2286 | -19 | c.106 others(38): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | ||||||
SUCLG2_chr3_67369719_67659612 | 67578248 | CATATATA others(12): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01167.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0081a0001c0001t0001g0085a0001c0001t0001g0087others(13): Show | 16 | 280 | 0.0571 | -19 | c.226 others(38): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102568890 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02717.hp2 NA18944.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0142a0001c0001t0001g0146a0001c0001t0001g0170others(2): Show | 5 | 268 | 0.0187 | -19 | c.454 others(38): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SUFU_chr10_102498972_102638535 | 102568892 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp2 HG01943.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0115a0001c0001t0001g0133a0001c0001t0001g0140others(13): Show | 16 | 268 | 0.0597 | -19 | c.454 others(38): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SUFU_chr10_102498972_102638535 | 102568894 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01261.hp2 HG02273.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0004 | a0001c0001t0001g0132a0001c0001t0001g0138a0001c0001t0001g0150others(3): Show | 6 | 268 | 0.0224 | -19 | c.454 others(38): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SUFU_chr10_102498972_102638535 | 102593418 | GGTCAGGC others(12): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0263 | 1 | 268 | 0.0037 | -19 | c.598 others(34): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
SUGP1_chr19_19271033_19325509 | 19271742 | GCTGGTCT others(12): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG01099.hp2 others(23): Show |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0002a0004c0010t0002 | a0001c0002t0002g0004a0001c0002t0002g0018a0001c0002t0002g0035others(20): Show | 26 | 332 | 0.0783 | -19 | c.*48 others(30): Show |
SUGP1 | ENSG00000105705.16 | transcript | ENST00000247001.10 | protein_coding | 4290 | chr19 | TogoVar | ||||||
SUGP2_chr19_18985893_19038517 | 19005870 | CACACACA others(12): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG03130.hp2 |
a0001a0010 | a0001c0001a0010c0018 | a0001c0001t0001a0010c0018t0008 | a0001c0001t0001g0120a0010c0018t0008g0184 | 2 | 302 | 0.0066 | -19 | c.245 others(38): Show |
SUGP2 | ENSG00000064607.17 | transcript | ENST00000452918.7 | protein_coding | 6/10 | chr19 | TogoVar | ||||||
SUGT1_chr13_52647836_52705909 | 52659806 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0045a0001c0001t0046others(2): Show | a0001c0001t0015g0023a0001c0001t0015g0149a0001c0001t0045g0148others(3): Show | 6 | 310 | 0.0194 | -19 | c.328 others(34): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SULF2_chr20_47652406_47790481 | 47745393 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01496.hp2 NA18954.hp2 NA18979.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0001 | a0001c0001t0001g0125a0001c0001t0014g0110a0001c0002t0001g0039others(1): Show | 4 | 364 | 0.0110 | -19 | c.176 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47745395 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 364 | 0.0028 | -19 | c.176 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47745399 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 364 | 0.0028 | -19 | c.176 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47745401 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG04204.hp1 NA18994.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081a0001c0001t0001g0208a0001c0001t0002g0248others(1): Show | 4 | 364 | 0.0110 | -19 | c.176 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47745405 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0139 | 1 | 364 | 0.0028 | -19 | c.176 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
SULT1C3_chr2_108234968_108265886 | 108259017 | TCAGGTGA others(12): Show |
T | frameshift_variant | HIGH | NA19087.hp1 | a0019 | a0019c0027 | a0019c0027t0004 | a0019c0027t0004g0002 | 1 | 376 | 0.0027 | -19 | c.674 others(26): Show |
p.Ser others(5): Show |
SULT1C3 | ENSG00000196228.5 | transcript | ENST00000681802.2 | protein_coding | 7/8 | 797/1244 | 674/915 | 225/304 | chr2 | TogoVar | ||
SULT2B1_chr19_48547172_48604423 | 48587890 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0052 | 1 | 376 | 0.0027 | -19 | c.423 others(34): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SULT2B1_chr19_48547172_48604423 | 48596454 | GGCTGTGA others(12): Show |
G | intron_variant | MODIFIER | HG02071.hp2 HG02738.hp1 NA18945.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0144a0001c0001t0001g0210others(3): Show | 6 | 376 | 0.0160 | -19 | c.646 others(34): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SULT2B1_chr19_48547172_48604423 | 48602703 | AAATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0044 | 1 | 376 | 0.0027 | -19 | c.*32 others(30): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3281 | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48602705 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 376 | 0.0027 | -19 | c.*33 others(30): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3283 | chr19 | TogoVar | ||||||
SUN1_chr7_827476_879934 | 852644 | TCATCCCA others(12): Show |
T | frameshift_variant | HIGH | NA19055.hp2 | a0017 | a0017c0015 | a0017c0015t0008 | a0017c0015t0008g0259 | 1 | 418 | 0.0024 | -19 | c.889 others(26): Show |
p.Ile others(5): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 8/19 | 938/4010 | 889/2358 | 297/785 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
SUN2_chr22_38729734_38760998 | 38732041 | TCTCTAGC others(12): Show |
T | downstream_gene_variant | MODIFIER | NA19070.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0039 | 1 | 350 | 0.0029 | -19 | c.*42 others(30): Show |
SUN2 | ENSG00000100242.16 | transcript | ENST00000689035.1 | protein_coding | 2692 | chr22 | TogoVar | ||||||
SUN5_chr20_32978775_33009433 | 32980683 | GTGGGTGG others(12): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01346.hp2 HG01433.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0108a0001c0001t0001g0277a0002c0002t0001g0026others(4): Show | 8 | 382 | 0.0209 | -19 | c.*30 others(30): Show |
SUN5 | ENSG00000167098.12 | transcript | ENST00000356173.8 | protein_coding | 3091 | chr20 | TogoVar | ||||||
SUN5_chr20_32978775_33009433 | 33001507 | TTTTCTTT others(12): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02976.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0286a0003c0003t0001g0287 | 2 | 382 | 0.0052 | -19 | c.212 others(34): Show |
SUN5 | ENSG00000167098.12 | transcript | ENST00000356173.8 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 44956478 | AAAAAATA others(12): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01891.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0212a0001c0001t0001g0218a0001c0001t0005g0011others(13): Show | 16 | 262 | 0.0611 | -19 | c.581 others(36): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45018859 | CATAAAAT others(12): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 | 1 | 262 | 0.0038 | -19 | c.273 others(36): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 4/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45294733 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0054 | 1 | 262 | 0.0038 | -19 | c.101 others(38): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUSD1_chr9_112035783_112180297 | 112142961 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0064 | 1 | 338 | 0.0030 | -19 | c.527 others(34): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 4/16 | chr9 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91304613 | AAGGAGAG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG02040.hp2 others(7): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0003a0001c0001t0063a0001c0005t0007others(5): Show | a0001c0001t0003g0173a0001c0001t0063g0119a0001c0005t0007g0027others(7): Show | 10 | 214 | 0.0467 | -19 | c.*12 others(32): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 2049 | chr15 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110511488 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG03017.hp1 others(3): Show |
a0003a0007a0055others(2): Show | a0003c0143a0007c0035a0055c0144others(2): Show | a0003c0143t0001a0007c0035t0001a0055c0144t0001others(2): Show | a0003c0143t0001g0203a0007c0035t0001g0109a0007c0035t0001g0110others(3): Show | 6 | 362 | 0.0166 | -19 | c.130 others(38): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 5/47 | chr9 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138686609 | AGGCTGCA others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(137): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0040others(137): Show | 140 | 360 | 0.3889 | -19 | c.-34 others(36): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725555 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0047 | 1 | 294 | 0.0034 | -19 | c.642 others(34): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0023a0001c0001t0001g0025others(2): Show | 5 | 386 | 0.0130 | -19 | c.*32 others(30): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | ||||||
SYCP1_chr1_114849863_115000370 | 114993268 | ATTGAATT others(12): Show |
A | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 312 | 0.0032 | -19 | c.270 others(38): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01928.hp2 HG02015.hp1 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0034a0001c0001t0001g0138a0001c0001t0001g0235others(20): Show | 23 | 354 | 0.0650 | -19 | c.9+9 others(30): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYCP2_chr20_59858571_59938637 | 59876369 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01255.hp1 others(14): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(2): Show | a0001c0001t0001g0076a0001c0001t0001g0139a0001c0003t0001g0034others(14): Show | 17 | 276 | 0.0616 | -19 | c.315 others(36): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 33/44 | chr20 | TogoVar | ||||||
SYMPK_chr19_45810410_45868147 | 45853738 | TCTGGGCT others(12): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0169 | 1 | 392 | 0.0026 | -19 | c.171 others(34): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 3/26 | chr19 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 33008924 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0004 | a0001c0004t0056 | a0001c0004t0056g0021 | 1 | 184 | 0.0054 | -19 | c.-16 others(38): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | ||||||
SYNC_chr1_32674906_32707770 | 32678567 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02280.hp2 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0008 | a0004c0004t0008g0016a0004c0004t0008g0017 | 4 | 318 | 0.0126 | -19 | c.*32 others(30): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 1338 | chr1 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24469789 | AGGGGCCC others(12): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03540.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0268a0004c0005t0001g0269 | 2 | 270 | 0.0074 | -19 | c.-79 others(32): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SYNE1_chr6_152116687_152642362 | 152188977 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0086 | a0086c0165 | a0086c0165t0018 | a0086c0165t0018g0174 | 1 | 174 | 0.0058 | -19 | c.233 others(38): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar |