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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PERM1_chr1_970198_987093 | 977065 | C | CCAACCCC others(650): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 408 | 0.0025 | 657 | c.215 others(674): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6561410 | C | CTCCTAGT others(650): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 218 | 0.0046 | 657 | c.-50 others(668): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4856 | chr17 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(650): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0018 | a0018c0027 | a0018c0027t0001 | a0018c0027t0001g0014 | 1 | 322 | 0.0031 | 657 | c.*48 others(668): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977065 | C | CCAACCCC others(650): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0054 | 2 | 422 | 0.0047 | 657 | c.*24 others(668): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1201 | chr1 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(650): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 252 | 0.0040 | 657 | c.139 others(676): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79495580 | T | TGGGAAGG others(650): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 154 | 0.0065 | 657 | c.-31 others(678): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693462 | T | TTCACCAC others(650): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0003 | 1 | 60 | 0.0167 | 657 | c.299 others(674): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(650): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0047 | 1 | 150 | 0.0067 | 657 | c.77- others(674): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(650): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0041 | 1 | 158 | 0.0063 | 657 | c.22+ others(674): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432021 | C | CAGGGTGG others(650): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0123 | 1 | 376 | 0.0027 | 657 | c.101 others(674): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(650): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0009 | a0009c0019 | a0009c0019t0002 | a0009c0019t0002g0079 | 1 | 376 | 0.0027 | 657 | c.101 others(674): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC16A3_chr17_82224042_82245086 | 82227685 | C | CACCACCC others(650): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0283a0001c0001t0001g0284 | 3 | 410 | 0.0073 | 657 | c.-14 others(668): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 1356 | chr17 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(650): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0038 | a0001c0038t0011 | a0001c0038t0011g0066 | 1 | 132 | 0.0076 | 657 | c.227 others(676): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(650): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 657 | c.*12 others(668): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGAAGGG others(650): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 352 | 0.0028 | 657 | c.*12 others(668): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(650): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 657 | c.*12 others(668): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(650): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 657 | c.*12 others(668): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(650): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 657 | c.*12 others(668): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377105 | C | CTCTGTGC others(650): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0003 | a0003c0004 | a0003c0004t0024 | a0003c0004t0024g0251 | 1 | 370 | 0.0027 | 657 | c.-11 others(668): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1080 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377283 | C | CCCCTCTG others(650): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 370 | 0.0027 | 657 | c.-13 others(668): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1258 | chr19 | TogoVar | ||||||
TMEM178B_chr7_141069064_141485380 | 141337156 | C | CACCACCA others(650): Show |
intron_variant | MODIFIER | HG03516.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0008 | a0001c0001t0015g0028a0001c0002t0008g0003 | 2 | 80 | 0.0250 | 657 | c.497 others(678): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TMPRSS9_chr19_2355265_2431261 | 2377592 | C | CCCTCCCC others(650): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 114 | 0.0088 | 657 | c.-25 others(676): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(650): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0154 | 1 | 174 | 0.0058 | 657 | c.41- others(674): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870633 | C | CCACACAC others(650): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 338 | 0.0030 | 657 | c.*35 others(676): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917305 | G | GTTCGGCT others(650): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 344 | 0.0029 | 657 | c.218 others(674): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35248360 | A | AAATATAT others(650): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0005 | a0002c0005t0017 | a0002c0005t0017g0030 | 1 | 64 | 0.0156 | 657 | c.103 others(676): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | chr8 | TogoVar | ||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(650): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 218 | 0.0046 | 657 | c.55+ others(672): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(650): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 246 | 0.0041 | 657 | c.-10 others(674): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88501132 | G | GGGCCCTC others(650): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0027 | a0002c0027t0001 | a0002c0027t0001g0076 | 1 | 318 | 0.0031 | 657 | c.268 others(676): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(650): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 383 | 0.0026 | 657 | c.-42 others(668): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975506 | G | GATAAATA others(651): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0005 | a0005c0021 | a0005c0021t0001 | a0005c0021t0001g0147 | 1 | 306 | 0.0033 | 658 | c.130 others(677): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173303 | T | TCCACCCC others(651): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0244 | 1 | 337 | 0.0030 | 658 | c.61+ others(673): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288549 | C | CCGTGTCT others(651): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 295 | 0.0034 | 658 | c.*50 others(669): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3841 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289972 | G | GTCTCTGC others(651): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0168 | 1 | 295 | 0.0034 | 658 | c.*35 others(669): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2418 | chr1 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(651): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01256.hp1 others(3): Show |
a0002a0007a0010 | a0002c0002a0007c0009a0010c0010 | a0002c0002t0002a0007c0009t0011a0010c0010t0010 | a0002c0002t0002g0198a0007c0009t0011g0116a0007c0009t0011g0173others(3): Show | 6 | 262 | 0.0229 | 658 | c.775 others(673): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581356 | A | ATATACAC others(651): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0126 | 1 | 169 | 0.0059 | 658 | c.48- others(675): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(651): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0320 | 1 | 462 | 0.0022 | 658 | c.564 others(673): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(651): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02004.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234a0001c0001t0003g0289a0001c0001t0003g0299 | 3 | 462 | 0.0065 | 658 | c.564 others(673): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(651): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00735.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0026others(2): Show | a0001c0001t0003g0023a0001c0001t0003g0030a0001c0001t0003g0031others(48): Show | 52 | 462 | 0.1126 | 658 | c.564 others(673): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(651): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0325 | 1 | 462 | 0.0022 | 658 | c.564 others(673): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975421 | T | TGTGTGAG others(651): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0002t0004a0001c0008t0004 | a0001c0002t0002g0226a0001c0002t0004g0228a0001c0002t0004g0230others(3): Show | 6 | 268 | 0.0224 | 658 | c.474 others(675): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(651): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 391 | 0.0026 | 658 | c.*36 others(669): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83022312 | G | GAGCTTAG others(651): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0150 | 1 | 266 | 0.0038 | 658 | c.298 others(675): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83022660 | G | GCCCACCT others(651): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0125 | 1 | 266 | 0.0038 | 658 | c.298 others(675): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83022782 | G | GAGCTTAG others(651): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0021 | a0003c0021t0035 | a0003c0021t0035g0187 | 1 | 266 | 0.0038 | 658 | c.298 others(675): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169484989 | T | TAAAAATC others(651): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0161 | 1 | 398 | 0.0025 | 658 | c.143 others(675): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C20orf96_chr20_265863_295750 | 279045 | C | CGGTGAGG others(651): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0107 | 1 | 410 | 0.0024 | 658 | c.465 others(673): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(651): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015a0001c0001t0002g0266 | 4 | 376 | 0.0106 | 658 | c.63+ others(671): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(651): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03579.hp1 |
a0004 | a0004c0004 | a0004c0004t0012a0004c0004t0026 | a0004c0004t0012g0144a0004c0004t0026g0267 | 2 | 324 | 0.0062 | 658 | c.110 others(675): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(651): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020 | a0001c0001t0006g0003a0001c0001t0020g0051 | 2 | 324 | 0.0062 | 658 | c.110 others(675): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |