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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEL1L2_chr20_13844247_13995614 | 13951603 | A | AAAAAAAG others(5046): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 a0001c0003t0001g0287 |
3 | 189 | 0.0159 | 5053 | c.114 others(5070): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951603 | A | AAAAAAAG others(5046): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0189 | 1 | 187 | 0.0053 | 5053 | c.114 others(5070): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951603 | A | AAAAAAAG others(5046): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0213 | 1 | 187 | 0.0053 | 5053 | c.114 others(5070): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(5046): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0072 | 1 | 37 | 0.0270 | 5053 | c.327 others(5070): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(5046): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03209.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0070 a0001c0001t0007g0068 a0001c0001t0007g0071 |
3 | 39 | 0.0769 | 5053 | c.327 others(5070): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311001 | C | CATTATAG others(5046): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0007 | a0001c0001t0007g0067 a0001c0001t0007g0073 a0001c0005t0007g0005 |
4 | 40 | 0.1000 | 5053 | c.327 others(5070): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5047): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 247 | 0.0040 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5047): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 247 | 0.0040 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5047): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00609.hp1 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0002a0001c0013t0002a0002c0002t0004others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(50): Show |
53 | 299 | 0.1773 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5047): Show |
intron_variant | MODIFIER | NA18984.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0010 |
2 | 248 | 0.0081 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951602 | A | AAAAAAAA others(5047): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19079.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0173 a0004c0006t0001g0089 |
2 | 237 | 0.0084 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951602 | A | AAAAAAAA others(5047): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 236 | 0.0042 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951602 | A | AAAAAAAA others(5047): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0116 |
2 | 237 | 0.0084 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951602 | A | AAAAAAAA others(5047): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 a0001c0001t0001g0298 |
2 | 237 | 0.0084 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951602 | A | AAAAAAAA others(5047): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02886.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0005a0005c0007t0001 | a0001c0001t0001g0305 a0001c0001t0005g0304 a0005c0007t0001g0301 others(2): Show |
5 | 240 | 0.0208 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951602 | A | AAAAAAAA others(5047): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 236 | 0.0042 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951603 | A | AAAAAAAG others(5047): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 187 | 0.0053 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951603 | A | AAAAAAAG others(5047): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00738.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0153 a0001c0001t0001g0217 a0001c0001t0001g0237 others(4): Show |
7 | 193 | 0.0363 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951603 | A | AAAAAAAG others(5047): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03209.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 |
3 | 189 | 0.0159 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951603 | A | AAAAAAAG others(5047): Show |
intron_variant | MODIFIER | NA18949.hp2 NA19002.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0263 a0002c0002t0003g0291 |
2 | 188 | 0.0106 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951603 | A | AAAAAAAG others(5047): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0275 | 1 | 187 | 0.0053 | 5054 | c.114 others(5071): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5048): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 247 | 0.0040 | 5055 | c.114 others(5072): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5048): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(2): Show |
5 | 251 | 0.0199 | 5055 | c.114 others(5072): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5048): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0009 | a0009c0017 | a0009c0017t0002 | a0009c0017t0002g0040 | 1 | 247 | 0.0040 | 5055 | c.114 others(5072): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5048): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 247 | 0.0040 | 5055 | c.114 others(5072): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5048): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01109.hp1 HG02647.hp2 others(2): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0002a0007c0010t0002 | a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0048 others(2): Show |
5 | 251 | 0.0199 | 5055 | c.114 others(5072): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951602 | A | AAAAAAAA others(5048): Show |
intron_variant | MODIFIER | HG06807.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0290 |
2 | 237 | 0.0084 | 5055 | c.114 others(5072): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951602 | A | AAAAAAAA others(5048): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0151 | 1 | 236 | 0.0042 | 5055 | c.114 others(5072): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951602 | A | AAAAAAAA others(5048): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01361.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 others(1): Show |
4 | 239 | 0.0167 | 5055 | c.114 others(5072): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5049): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 247 | 0.0040 | 5056 | c.114 others(5073): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5049): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 247 | 0.0040 | 5056 | c.114 others(5073): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5049): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0215 | 1 | 247 | 0.0040 | 5056 | c.114 others(5073): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5049): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 247 | 0.0040 | 5056 | c.114 others(5073): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951601 | A | AAAAAAAA others(5050): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 247 | 0.0040 | 5057 | c.114 others(5074): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951602 | A | AAAAAAAA others(5050): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 236 | 0.0042 | 5057 | c.114 others(5074): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951558 | C | CACTGCAC others(5051): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 a0001c0001t0002g0047 |
2 | 312 | 0.0064 | 5058 | c.114 others(5075): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951558 | C | CACTGCAC others(5052): Show |
intron_variant | MODIFIER | HG02486.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0289 |
2 | 312 | 0.0064 | 5059 | c.114 others(5076): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951558 | C | CACTGCAC others(5052): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 311 | 0.0032 | 5059 | c.114 others(5076): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(5053): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 13 | 0.0769 | 5060 | c.215 others(5077): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13951558 | C | CACTGCAC others(5053): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01515.hp2 HG01517.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 others(3): Show |
6 | 316 | 0.0190 | 5060 | c.114 others(5077): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320497 | T | TGTTGGCC others(5054): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0048 | 1 | 48 | 0.0208 | 5061 | c.287 others(5080): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951558 | C | CACTGCAC others(5054): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 311 | 0.0032 | 5061 | c.114 others(5078): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(5055): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0010 | a0002c0010t0009 | a0002c0010t0009g0014 | 1 | 42 | 0.0238 | 5062 | c.179 others(5077): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5055): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0031 | 1 | 2 | 0.5000 | 5062 | c.287 others(5081): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586203 | A | AGGCGGAG others(5055): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0175 | 1 | 278 | 0.0036 | 5062 | c.157 others(5077): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377868 | C | CGGCTCAC others(5056): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0114 | 1 | 208 | 0.0048 | 5063 | c.228 others(5084): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146106662 | G | GGTTCTCC others(5057): Show |
intron_variant | MODIFIER | HG01517.hp2 HG01978.hp1 HG02004.hp1 |
a0013a0020a0050 | a0013c0024a0020c0022a0050c0073 | a0013c0024t0002a0020c0022t0002a0050c0073t0002 | a0013c0024t0002g0111 a0020c0022t0002g0087 a0050c0073t0002g0110 |
3 | 273 | 0.0110 | 5064 | c.495 others(5079): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 38/89 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5058): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 3 | 0.3333 | 5065 | c.-34 others(5080): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5059): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0150 | 1 | 8 | 0.1250 | 5066 | c.-45 others(5075): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146104643 | G | GAGAGAGA others(5059): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0020 | a0020c0022 | a0020c0022t0002 | a0020c0022t0002g0089 | 1 | 166 | 0.0060 | 5066 | c.523 others(5083): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 41/89 | chr1 | TogoVar |