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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGSM2_chr17_2332501_2386054 | 2338774 | A | AATATATA others(37): Show |
intron_variant | MODIFIER | HG03927.hp1 HG04184.hp2 NA18952.hp2 others(6): Show |
a0001a0022a0026 | a0001c0001a0001c0003a0001c0037others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(3): Show | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 others(6): Show |
9 | 174 | 0.0517 | 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 | a0001c0001t0001g0391 | 1 | 420 | 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 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 95 | 0.0105 | 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 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0016 |
3 | 97 | 0.0309 | 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 | a0001c0001t0002g0228 a0001c0001t0002g0271 |
2 | 130 | 0.0154 | 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 | a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0191 others(2): Show |
5 | 133 | 0.0376 | 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 | a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 others(7): Show |
11 | 254 | 0.0433 | 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 | a0001c0002t0002g0062 | 1 | 413 | 0.0024 | 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 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0167 a0004c0007t0001g0166 |
2 | 84 | 0.0238 | 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 | 50 | 0.0200 | 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 | a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 others(69): Show |
98 | 355 | 0.2761 | 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 | a0001c0001t0008g0267 | 1 | 258 | 0.0039 | 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 |
a0001a0015 | a0001c0002a0015c0025 | a0001c0002t0015a0015c0025t0004 | a0001c0002t0015g0118 a0015c0025t0004g0282 |
2 | 268 | 0.0075 | 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 | 193 | 0.0052 | 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 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0307 a0001c0002t0001g0115 |
2 | 106 | 0.0189 | 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 | a0001c0001t0001g0128 | 1 | 245 | 0.0041 | 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 | 31 | 0.0323 | 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 | a0016 | a0016c0031 | a0016c0031t0001 | a0016c0031t0001g0081 | 1 | 110 | 0.0091 | 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 | 41 | 0.0244 | 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 | 278 | 0.0036 | 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(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0077 others(80): Show |
84 | 361 | 0.2327 | 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 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0088 | 1 | 239 | 0.0042 | 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 |
a0005a0008 | a0005c0009a0008c0013 | a0005c0009t0001a0008c0013t0001 | a0005c0009t0001g0071 a0008c0013t0001g0053 |
2 | 129 | 0.0155 | 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 | a0006c0011t0001g0144 | 1 | 6 | 0.1667 | 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 | a0001c0001t0002g0006 a0001c0001t0012g0031 |
2 | 24 | 0.0833 | 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 | a0001c0001t0015a0001c0001t0018a0001c0001t0025others(5): Show | a0001c0001t0015g0099 a0001c0001t0015g0100 a0001c0001t0018g0140 others(6): Show |
9 | 194 | 0.0464 | 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 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0137 a0001c0001t0003g0141 a0001c0001t0021g0136 |
3 | 322 | 0.0093 | 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 |
a0002a0014 | a0002c0003a0014c0027 | a0002c0003t0001a0002c0003t0006a0014c0027t0001 | a0002c0003t0001g0353 a0002c0003t0006g0343 a0014c0027t0001g0340 |
3 | 231 | 0.0130 | 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 | a0001c0002t0004 | a0001c0002t0004g0045 | 1 | 229 | 0.0044 | 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 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 229 | 0.0044 | 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 |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0033others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0107 a0001c0001t0002g0101 a0001c0001t0004g0104 others(9): Show |
12 | 88 | 0.1364 | 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 | a0002c0002t0001g0244 | 1 | 194 | 0.0052 | 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 | a0001c0001t0001g0062 a0001c0001t0001g0084 |
2 | 195 | 0.0103 | 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 | a0001c0001t0003g0238 | 1 | 305 | 0.0033 | 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 | a0001c0001t0001g0241 | 1 | 301 | 0.0033 | 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 | a0001c0001t0007g0132 | 1 | 270 | 0.0037 | 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 | a0001c0001t0005g0254 | 1 | 234 | 0.0043 | 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 | a0001c0001t0002g0323 | 1 | 290 | 0.0034 | 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 | a0001c0001t0003g0214 | 1 | 273 | 0.0037 | 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 | a0001c0001t0008g0139 | 1 | 276 | 0.0036 | 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 | a0001c0001t0012g0154 | 1 | 314 | 0.0032 | 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 | a0001c0001t0034 | a0001c0001t0034g0262 | 1 | 235 | 0.0043 | 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 | a0001c0003t0020g0013 | 1 | 279 | 0.0036 | 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 | a0001c0001t0004g0113 | 1 | 252 | 0.0040 | 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 | 2281730 | C | CGCCTGAG others(37): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 270 | 0.0037 | 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 | 2281747 | G | GGTGGCGG others(37): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0095 | 1 | 326 | 0.0031 | 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 | 2281770 | G | GGACGCCC others(37): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 282 | 0.0035 | 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 | 2281773 | C | CGCCCGAG others(37): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0027 | 1 | 263 | 0.0038 | 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 | 2281816 | C | CGCCCGAG others(37): Show |
intron_variant | MODIFIER | HG02273.hp1 HG02622.hp1 NA18959.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0004g0249 a0001c0001t0008g0197 a0001c0001t0012g0154 others(1): Show |
4 | 241 | 0.0166 | 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 | 2281841 | A | AGATCTTC others(37): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0327 | 1 | 291 | 0.0034 | 44 | c.970 others(63): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |