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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3379): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0216 | 1 | 268 | 0.0037 | 3386 | c.139 others(3407): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3379): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0144a0001c0001t0014g0209 | 2 | 268 | 0.0075 | 3386 | c.139 others(3407): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3379): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0259 | 1 | 268 | 0.0037 | 3386 | c.139 others(3407): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3379): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0094 | 1 | 323 | 0.0031 | 3386 | c.-21 others(3397): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14708752 | T | TAAAAAAG others(3379): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 332 | 0.0030 | 3386 | c.979 others(3405): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3379): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0193 | 1 | 214 | 0.0047 | 3386 | c.206 others(3405): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3379): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 356 | 0.0028 | 3386 | c.114 others(3403): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3380): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0012 | 1 | 298 | 0.0034 | 3387 | c.126 others(3404): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 323694 | G | GTGTGTGT others(3380): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 | 1 | 155 | 0.0065 | 3387 | c.-49 others(3398): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4899 | chrX | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3380): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0069 | a0069c0078 | a0069c0078t0001 | a0069c0078t0001g0055 | 1 | 186 | 0.0054 | 3387 | c.723 others(3404): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150747 | C | CGCCGCCT others(3380): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 294 | 0.0034 | 3387 | c.902 others(3402): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PXDNL_chr8_51314577_51814445 | 51426017 | G | GTCAAAAT others(3380): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0046 | 1 | 122 | 0.0082 | 3387 | c.163 others(3404): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 13/22 | chr8 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3380): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG02698.hp2 others(17): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(1): Show | a0002c0002t0001g0192a0002c0002t0002g0036a0002c0002t0002g0143others(17): Show | 20 | 330 | 0.0606 | 3387 | c.227 others(3404): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DDX51_chr12_132131594_132149319 | 132149182 | C | CACCACAC others(3381): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | 3388 | c.-48 others(3399): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4864 | chr12 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(3381): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0022 | a0022c0063 | a0022c0063t0001 | a0022c0063t0001g0130 | 1 | 292 | 0.0034 | 3388 | c.228 others(3405): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3381): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0002a0008c0010t0002 | a0001c0001t0002g0075a0008c0010t0002g0131 | 2 | 268 | 0.0075 | 3388 | c.139 others(3409): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3381): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 268 | 0.0037 | 3388 | c.139 others(3409): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3381): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0000 | a0000c0068 | a0000c0068t0001 | a0000c0068t0001g0031 | 1 | 186 | 0.0054 | 3388 | c.723 others(3405): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14708752 | T | TAAAAAAG others(3381): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03704.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090a0001c0002t0001g0091 | 2 | 332 | 0.0060 | 3388 | c.979 others(3407): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PXDNL_chr8_51314577_51814445 | 51426017 | G | GTCAAAAT others(3381): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0045 | 1 | 122 | 0.0082 | 3388 | c.163 others(3405): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 13/22 | chr8 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954440 | A | GGGGAGGG others(3381): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0120 | 1 | 126 | 0.0079 | 3388 | c.-28 others(3407): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3381): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0038 | 1 | 330 | 0.0030 | 3388 | c.227 others(3405): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3382): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0038 | 1 | 186 | 0.0054 | 3389 | c.723 others(3406): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917328 | T | TGGGGGTC others(3382): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0046 | 1 | 344 | 0.0029 | 3389 | c.218 others(3404): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EBF4_chr20_2687780_2765108 | 2698614 | T | TAAGAAGA others(3383): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 388 | 0.0026 | 3390 | c.137 others(3407): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706345 | G | GATAGATA others(3383): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0121 | 1 | 292 | 0.0034 | 3390 | c.228 others(3407): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706345 | G | GATAGATA others(3383): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0122 | 1 | 292 | 0.0034 | 3390 | c.228 others(3407): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(3383): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0108 | 1 | 369 | 0.0027 | 3390 | c.-50 others(3401): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(3383): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0035 | a0035c0018 | a0035c0018t0071 | a0035c0018t0071g0005 | 1 | 116 | 0.0086 | 3390 | c.199 others(3409): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3383): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0178 | 1 | 330 | 0.0030 | 3390 | c.227 others(3407): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3383): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0170 | 1 | 330 | 0.0030 | 3390 | c.227 others(3407): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3384): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 158 | 0.0063 | 3391 | c.284 others(3410): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3385): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0003 | a0003c0002 | a0003c0002t0010 | a0003c0002t0010g0270 | 1 | 318 | 0.0031 | 3392 | c.813 others(3409): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46366255 | A | AGAAAGGT others(3385): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0028 | a0028c0049 | a0028c0049t0001 | a0028c0049t0001g0086 | 1 | 104 | 0.0096 | 3392 | c.830 others(3409): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3385): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0186 | 1 | 330 | 0.0030 | 3392 | c.227 others(3409): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3386): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0040 | 1 | 318 | 0.0031 | 3393 | c.813 others(3410): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(3386): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 323 | 0.0031 | 3393 | c.-21 others(3404): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(3386): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0004 | 1 | 323 | 0.0031 | 3393 | c.-21 others(3404): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(3386): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 295 | 0.0034 | 3393 | c.715 others(3410): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432111 | T | TAGGGTGG others(3386): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0084 | 1 | 376 | 0.0027 | 3393 | c.101 others(3410): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(3386): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0018 | 1 | 126 | 0.0079 | 3393 | c.-28 others(3412): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3386): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0181 | 1 | 330 | 0.0030 | 3393 | c.227 others(3410): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3386): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0037 | 1 | 330 | 0.0030 | 3393 | c.227 others(3410): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3386): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0006 | a0002c0002t0002g0028a0002c0002t0002g0180a0002c0002t0002g0182others(17): Show | 21 | 330 | 0.0636 | 3393 | c.227 others(3410): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3386): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0039 | 1 | 330 | 0.0030 | 3393 | c.227 others(3410): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3387): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0069 | 1 | 318 | 0.0031 | 3394 | c.813 others(3411): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3387): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0131 | 1 | 292 | 0.0034 | 3394 | c.228 others(3411): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706345 | G | GATAGATA others(3387): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0140 | 1 | 292 | 0.0034 | 3394 | c.228 others(3411): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706345 | G | GATAGATA others(3387): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01346.hp2 |
a0001a0004 | a0001c0003a0004c0005 | a0001c0003t0001a0004c0005t0001 | a0001c0003t0001g0119a0004c0005t0001g0120 | 2 | 292 | 0.0069 | 3394 | c.228 others(3411): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3387): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 | a0010 | a0010c0041 | a0010c0041t0002 | a0010c0041t0002g0251 | 1 | 369 | 0.0027 | 3394 | c.-50 others(3405): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar |