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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGIP1_chr1_66529153_66756139 | 66660015 | A | AAGGAAAG others(37): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0249 | 1 | 302 | 0.0033 | 44 | c.460 others(59): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | chr1 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134232413 | G | GAGAAAGA others(37): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 250 | 0.0040 | 44 | c.286 others(63): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66720781 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0012 | 1 | 142 | 0.0070 | 44 | c.-12 others(63): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGMS1_chr10_50300600_50628956 | 50574963 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG04115.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0003 | a0001c0001t0003g0066a0001c0001t0003g0226a0001c0001t0003g0240others(2): Show | 5 | 312 | 0.0160 | 44 | c.-58 others(65): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222435029 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 | 1 | 272 | 0.0037 | 44 | c.219 others(63): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SGSM1_chr22_24801211_24932578 | 24900385 | T | TTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02647.hp1 others(3): Show |
a0001a0003 | a0001c0007a0003c0003 | a0001c0007t0001a0001c0007t0015a0001c0007t0045others(1): Show | a0001c0007t0001g0323a0001c0007t0001g0324a0001c0007t0015g0074others(3): Show | 6 | 338 | 0.0178 | 44 | c.261 others(63): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SGSM2_chr17_2332501_2386054 | 2338774 | A | AATATATA others(37): Show |
intron_variant | MODIFIER | HG03927.hp1 HG04184.hp2 NA18952.hp2 others(6): Show |
a0001a0018a0019 | a0001c0001a0001c0003a0001c0037others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(3): Show | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0001t0001g0214others(6): Show | 9 | 422 | 0.0213 | 44 | c.57+ others(59): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SGSM2_chr17_2332501_2386054 | 2338788 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0394 | 1 | 422 | 0.0024 | 44 | c.57+ others(59): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SH2D1B_chr1_162390268_162417136 | 162416424 | A | AAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 424 | 0.0024 | 44 | c.-44 others(55): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 4289 | chr1 | TogoVar | ||||||
SH2D1B_chr1_162390268_162417136 | 162416424 | A | AAGAAAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01261.hp2 HG03834.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001a0001c0002t0002g0016 | 3 | 424 | 0.0071 | 44 | c.-44 others(55): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 4289 | chr1 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83460068 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228a0001c0001t0002g0271 | 2 | 324 | 0.0062 | 44 | c.45+ others(61): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SH3GL3_chr15_83442341_83623743 | 83460068 | C | CCCTTCCT others(37): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0177a0001c0001t0002g0179a0001c0001t0002g0191others(2): Show | 5 | 324 | 0.0154 | 44 | c.45+ others(61): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SH3GLB2_chr9_129002036_129033331 | 129025611 | G | GAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02630.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0002 | a0001c0001t0002g0109a0001c0001t0002g0110a0001c0001t0002g0111others(8): Show | 11 | 436 | 0.0252 | 44 | c.63+ others(59): Show |
SH3GLB2 | ENSG00000148341.18 | transcript | ENST00000372564.8 | protein_coding | 1/10 | chr9 | TogoVar | ||||||
SH3GLB2_chr9_129002036_129033331 | 129025623 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 436 | 0.0023 | 44 | c.63+ others(59): Show |
SH3GLB2 | ENSG00000148341.18 | transcript | ENST00000372564.8 | protein_coding | 1/10 | chr9 | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19874068 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0165a0005c0007t0001g0166 | 2 | 204 | 0.0098 | 44 | c.4+1 others(59): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109458572 | C | CAGAGAGA others(37): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0083 | 1 | 172 | 0.0058 | 44 | c.214 others(63): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SH3YL1_chr2_213144_269032 | 236070 | G | GGCAGCAG others(37): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(95): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(2): Show | a0001c0001t0002g0200a0001c0001t0002g0202a0001c0001t0002g0203others(65): Show | 98 | 360 | 0.2722 | 44 | c.292 others(61): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
SH3YL1_chr2_213144_269032 | 236070 | G | GGCAGCAG others(37): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0253 | 1 | 360 | 0.0028 | 44 | c.292 others(61): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50692456 | G | GATATATA others(37): Show |
intron_variant | MODIFIER | HG03516.hp2 NA19005.hp2 |
a0001a0009 | a0001c0002a0009c0025 | a0001c0002t0015a0009c0025t0004 | a0001c0002t0015g0114a0009c0025t0004g0282 | 2 | 316 | 0.0063 | 44 | c.196 others(63): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13071557 | T | TTTCCTTC others(37): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 1 | 214 | 0.0047 | 44 | c.692 others(65): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SHISAL1_chr22_44238665_44317951 | 44261077 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | NA19084.hp2 NA19091.hp1 |
a0001 | a0001c0058a0001c0220 | a0001c0058t0001a0001c0220t0001 | a0001c0058t0001g0116a0001c0220t0001g0309 | 2 | 380 | 0.0053 | 44 | c.600 others(63): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9823074 | C | CCCTTCTC others(37): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 256 | 0.0039 | 44 | c.165 others(63): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(37): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0186 | 1 | 218 | 0.0046 | 44 | c.324 others(63): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76689356 | G | GAGCGCCG others(37): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0015 | a0015c0031 | a0015c0031t0001 | a0015c0031t0001g0081 | 1 | 218 | 0.0046 | 44 | c.324 others(63): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SHROOM4_chrX_50581796_50819194 | 50618277 | C | CTCCTTCC others(37): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 175 | 0.0057 | 44 | c.295 others(63): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | ||||||
SIAH3_chr13_45772242_45856753 | 45826357 | A | ATGGATGG others(37): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0209 | 1 | 364 | 0.0028 | 44 | c.135 others(63): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
SIAH3_chr13_45772242_45856753 | 45826357 | A | ATGGATGG others(37): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0077others(81): Show | 85 | 364 | 0.2335 | 44 | c.135 others(63): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401666 | G | GCTCACAC others(37): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0100 | 1 | 242 | 0.0041 | 44 | c.*42 others(55): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4049 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 411270 | C | CGGGGGGG others(37): Show |
intron_variant | MODIFIER | HG03927.hp2 NA19065.hp1 |
a0005a0007 | a0005c0009a0007c0014 | a0005c0009t0001a0007c0014t0001 | a0005c0009t0001g0073a0007c0014t0001g0037 | 2 | 242 | 0.0083 | 44 | c.-15 others(63): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 411848 | G | GTGCTCAG others(37): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0190 | 1 | 242 | 0.0041 | 44 | c.-15 others(63): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111628416 | A | ATCTTTCT others(37): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0006a0001c0001t0012g0031 | 2 | 198 | 0.0101 | 44 | c.316 others(61): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SIK2_chr11_111597449_111735855 | 111642824 | G | GGGCTTGT others(37): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 HG03130.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0015a0001c0001t0018a0001c0001t0026others(5): Show | a0001c0001t0015g0099a0001c0001t0015g0100a0001c0001t0018g0140others(6): Show | 9 | 198 | 0.0455 | 44 | c.316 others(63): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SIK3_chr11_116838402_117103428 | 117013901 | G | GGTGTGTG others(37): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02080.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026 | a0001c0001t0004g0114a0001c0001t0004g0118a0001c0001t0026g0113 | 3 | 366 | 0.0082 | 44 | c.274 others(63): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02647.hp2 HG03225.hp2 |
a0002a0007 | a0002c0003a0007c0027 | a0002c0003t0007a0002c0003t0008a0007c0027t0008 | a0002c0003t0007g0343a0002c0003t0008g0353a0007c0027t0008g0340 | 3 | 366 | 0.0082 | 44 | c.274 others(63): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0022 | 1 | 366 | 0.0027 | 44 | c.274 others(63): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 117020246 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148 | 1 | 366 | 0.0027 | 44 | c.274 others(63): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37968063 | C | CTCTTTCT others(37): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02155.hp2 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0033others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0107a0001c0001t0002g0101a0001c0001t0004g0104others(9): Show | 12 | 164 | 0.0732 | 44 | c.-37 others(65): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SKAP1_chr17_48128442_48435214 | 48413523 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0245 | 1 | 292 | 0.0034 | 44 | c.46+ others(61): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
SKAP1_chr17_48128442_48435214 | 48413523 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0084 | 2 | 292 | 0.0069 | 44 | c.46+ others(61): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2280782 | C | CGCCCGAG others(37): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 330 | 0.0030 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2280825 | C | CGCCCGAG others(37): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 330 | 0.0030 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281083 | C | CGCCCGAG others(37): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0133 | 1 | 330 | 0.0030 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281426 | G | GGACGCCC others(37): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0253 | 1 | 330 | 0.0030 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281454 | A | AGATCTTC others(37): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 330 | 0.0030 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281472 | C | CGCCCGAG others(37): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0213 | 1 | 330 | 0.0030 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281558 | C | CGCCCGAG others(37): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0140 | 1 | 330 | 0.0030 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281574 | C | CGGTGGCG others(37): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0155 | 1 | 330 | 0.0030 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281641 | G | GGACGCCC others(37): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0261 | 1 | 330 | 0.0030 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281669 | A | AGATCTTC others(37): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0014 | 1 | 330 | 0.0030 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281687 | C | CGCCCGAG others(37): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0114 | 1 | 330 | 0.0030 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |