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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHA7_chr6_93235020_93424559 | 93369180 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG02683.hp1 NA18972.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0203a0001c0003t0001g0220 | 2 | 280 | 0.0071 | -10 | c.833 others(29): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93383263 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007 | a0001c0001t0002g0059a0001c0002t0007g0058 | 2 | 280 | 0.0071 | -10 | c.833 others(29): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93405783 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG03486.hp2 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0006 | a0001c0003t0001g0229a0001c0007t0006g0021 | 2 | 280 | 0.0071 | -10 | c.832 others(27): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93405805 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 280 | 0.0036 | -10 | c.832 others(27): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93405807 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG03471.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0010 | a0001c0001t0017g0256a0001c0003t0010g0272 | 2 | 280 | 0.0071 | -10 | c.832 others(27): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93405811 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG01496.hp2 NA19030.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0008t0006 | a0001c0002t0002g0267a0001c0008t0006g0269 | 2 | 280 | 0.0071 | -10 | c.832 others(27): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93405813 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | NA18977.hp2 NA18981.hp2 NA18982.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237a0001c0001t0001g0245a0001c0001t0001g0247others(1): Show | 4 | 280 | 0.0143 | -10 | c.832 others(27): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA8_chr1_22558489_22608595 | 22579059 | ATGTATGC others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0018 | a0018c0035 | a0018c0035t0008 | a0018c0035t0008g0155 | 1 | 342 | 0.0029 | -10 | c.823 others(27): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHA8_chr1_22558489_22608595 | 22579159 | ATGTATGC others(3): Show |
A | intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0077 | 1 | 342 | 0.0029 | -10 | c.823 others(27): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHA8_chr1_22558489_22608595 | 22580127 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02895.hp2 HG03579.hp1 |
a0001a0002 | a0001c0002a0002c0004a0002c0037 | a0001c0002t0002a0002c0004t0011a0002c0037t0002 | a0001c0002t0002g0152a0002c0004t0011g0061a0002c0037t0002g0078 | 3 | 342 | 0.0088 | -10 | c.823 others(27): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134807494 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0059 | 1 | 134 | 0.0075 | -10 | c.58+ others(27): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134866964 | TACATGGG others(3): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0063 | 1 | 134 | 0.0075 | -10 | c.59- others(27): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134899658 | GTTTGTTT others(3): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03041.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0016others(3): Show | a0001c0001t0001g0035a0001c0001t0002g0002a0001c0002t0016g0114others(3): Show | 6 | 134 | 0.0448 | -10 | c.59- others(27): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134941752 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG02258.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(14): Show | a0001c0001t0002g0091a0001c0001t0003g0053a0001c0001t0003g0083others(19): Show | 22 | 134 | 0.1642 | -10 | c.124 others(27): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135076234 | GATATATA others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00673.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0040a0001c0001t0001g0051a0001c0001t0002g0050others(29): Show | 32 | 134 | 0.2388 | -10 | c.806 others(29): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135079113 | GCAAAAAC others(3): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0008 | 1 | 134 | 0.0075 | -10 | c.806 others(29): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135182986 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 134 | 0.0075 | -10 | c.188 others(29): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135208290 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00673.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(20): Show | a0001c0001t0001g0035a0001c0001t0001g0126a0001c0001t0002g0005others(33): Show | 36 | 134 | 0.2687 | -10 | c.234 others(29): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135217424 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG04115.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0003t0005 | a0001c0001t0014g0029a0001c0003t0005g0099 | 2 | 134 | 0.0149 | -10 | c.234 others(31): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB2_chr1_22705839_22926500 | 22726408 | CTTTTTCT others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0163others(70): Show | 73 | 248 | 0.2944 | -10 | c.61+ others(27): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHB2_chr1_22705839_22926500 | 22795465 | CGTTTTGT others(3): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0037 | 1 | 248 | 0.0040 | -10 | c.811 others(29): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHB2_chr1_22705839_22926500 | 22819205 | GTCTCTCT others(3): Show |
G | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 248 | 0.0040 | -10 | c.811 others(29): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHB2_chr1_22705839_22926500 | 22925045 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01109.hp1 HG01123.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0017 | a0001c0001t0003a0001c0001t0006a0001c0001t0027others(6): Show | a0001c0001t0003g0005a0001c0001t0003g0075a0001c0001t0003g0081others(18): Show | 21 | 248 | 0.0847 | -10 | c.*11 others(23): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 3546 | chr1 | TogoVar | ||||||
EPHB3_chr3_184556785_184587408 | 184567480 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00621.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0003a0001c0004t0009a0001c0008t0001 | a0001c0001t0003g0191a0001c0004t0009g0162a0001c0004t0009g0163others(3): Show | 6 | 358 | 0.0168 | -10 | c.119 others(27): Show |
EPHB3 | ENSG00000182580.3 | transcript | ENST00000330394.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB3_chr3_184556785_184587408 | 184582246 | ATGTGTGA others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0001 | 1 | 358 | 0.0028 | -10 | c.*63 others(19): Show |
EPHB3 | ENSG00000182580.3 | transcript | ENST00000330394.3 | protein_coding | 16/16 | 631 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
EPHB3_chr3_184556785_184587408 | 184582271 | TGTGTGTG others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
a0001a0006 | a0001c0004a0001c0007a0006c0025 | a0001c0004t0014a0001c0004t0029a0001c0007t0010others(1): Show | a0001c0004t0014g0183a0001c0004t0029g0198a0001c0007t0010g0024others(6): Show | 10 | 358 | 0.0279 | -10 | c.*65 others(19): Show |
EPHB3 | ENSG00000182580.3 | transcript | ENST00000330394.3 | protein_coding | 16/16 | 651 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
EPHB4_chr7_100797565_100832523 | 100801772 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0006 | a0006c0022 | a0006c0022t0012 | a0006c0022t0012g0156 | 1 | 364 | 0.0028 | -10 | c.*16 others(21): Show |
EPHB4 | ENSG00000196411.10 | transcript | ENST00000358173.8 | protein_coding | 792 | chr7 | TogoVar | ||||||
EPHB4_chr7_100797565_100832523 | 100804308 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 364 | 0.0028 | -10 | c.283 others(27): Show |
EPHB4 | ENSG00000196411.10 | transcript | ENST00000358173.8 | protein_coding | 16/16 | chr7 | TogoVar | ||||||
EPHB4_chr7_100797565_100832523 | 100813306 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0164 | 1 | 364 | 0.0028 | -10 | c.175 others(26): Show |
EPHB4 | ENSG00000196411.10 | transcript | ENST00000358173.8 | protein_coding | 10/16 | chr7 | TogoVar | ||||||
EPHB6_chr7_142850076_142876093 | 142861342 | ATCCTATA others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG01261.hp1 others(41): Show |
a0001a0002a0004 | a0001c0008a0001c0018a0002c0002others(1): Show | a0001c0008t0006a0001c0018t0006a0002c0002t0001others(2): Show | a0001c0008t0006g0024a0001c0008t0006g0088a0001c0018t0006g0086others(26): Show | 44 | 311 | 0.1415 | -10 | c.-29 others(27): Show |
EPHB6 | ENSG00000106123.12 | transcript | ENST00000652003.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EPHX1_chr1_225805124_225850563 | 225815612 | ATTTTTAG others(3): Show |
A | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 422 | 0.0024 | -10 | c.-6+ others(25): Show |
EPHX1 | ENSG00000143819.13 | transcript | ENST00000272167.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHX1_chr1_225805124_225850563 | 225825866 | CACGCTCC others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289a0001c0001t0003g0290a0001c0001t0003g0291others(1): Show | 4 | 422 | 0.0095 | -10 | c.-5- others(25): Show |
EPHX1 | ENSG00000143819.13 | transcript | ENST00000272167.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27487357 | ACTCTTCT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG02015.hp2 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(9): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0111others(19): Show | 23 | 374 | 0.0615 | -10 | c.-38 others(21): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 3785 | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27490699 | GACACACA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp1 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(5): Show | a0001c0001t0001g0101a0001c0001t0001g0111a0001c0001t0001g0113others(17): Show | 20 | 374 | 0.0535 | -10 | c.-50 others(19): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 443 | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27490745 | CACACACA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02258.hp1 others(7): Show |
a0001 | a0001c0004a0001c0032 | a0001c0004t0003a0001c0004t0004a0001c0032t0003 | a0001c0004t0003g0323a0001c0004t0003g0324a0001c0004t0003g0325others(7): Show | 10 | 374 | 0.0267 | -10 | c.-46 others(19): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 397 | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27517282 | ACTACCCA others(3): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp2 |
a0003 | a0003c0007 | a0003c0007t0008 | a0003c0007t0008g0306a0003c0007t0008g0307 | 2 | 374 | 0.0054 | -10 | c.911 others(25): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 8/18 | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27525099 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG02165.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0266a0001c0002t0002g0275 | 2 | 374 | 0.0054 | -10 | c.105 others(27): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EPHX3_chr19_15221919_15237448 | 15228503 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 374 | 0.0027 | -10 | c.617 others(25): Show |
EPHX3 | ENSG00000105131.8 | transcript | ENST00000221730.8 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
EPHX3_chr19_15221919_15237448 | 15229885 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 2 | 374 | 0.0054 | -10 | c.616 others(27): Show |
EPHX3 | ENSG00000105131.8 | transcript | ENST00000221730.8 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
EPHX4_chr1_92024985_92068538 | 92027969 | TTTTTGTT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01069.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0127a0001c0001t0001g0171a0001c0001t0001g0192others(12): Show | 15 | 236 | 0.0636 | -10 | c.-21 others(21): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 2015 | chr1 | TogoVar | ||||||
EPM2AIP1_chr3_36980043_36998131 | 36983937 | CAACATGG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG03486.hp2 |
a0002 | a0002c0005 | a0002c0005t0070a0002c0005t0071a0002c0005t0072 | a0002c0005t0070g0000a0002c0005t0071g0000a0002c0005t0072g0000 | 3 | 406 | 0.0074 | -10 | c.*73 others(21): Show |
EPM2AIP1 | ENSG00000178567.8 | transcript | ENST00000322716.8 | protein_coding | 1105 | chr3 | TogoVar | ||||||
EPM2A_chr6_145620305_145740520 | 145631869 | TCTCACAC others(3): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 320 | 0.0031 | -10 | c.718 others(27): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
EPM2A_chr6_145620305_145740520 | 145683305 | GTGAGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0005a0002c0004t0011 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(3): Show | 6 | 320 | 0.0188 | -10 | c.476 others(27): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
EPM2A_chr6_145620305_145740520 | 145696772 | GGTATGTG others(3): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0162a0001c0002t0002g0148 | 2 | 320 | 0.0063 | -10 | c.302 others(29): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EPM2A_chr6_145620305_145740520 | 145696775 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG02486.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0003g0027a0001c0001t0004g0032a0001c0001t0004g0034others(8): Show | 11 | 320 | 0.0344 | -10 | c.302 others(29): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EPM2A_chr6_145620305_145740520 | 145736520 | CTGATACT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 320 | 0.0031 | -10 | c.-10 others(21): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1001 | chr6 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19242607 | TAGGCAGA others(3): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0094 | 2 | 282 | 0.0071 | -10 | c.-29 others(29): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19276360 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02922.hp1 NA18979.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0168a0001c0001t0001g0217others(2): Show | 5 | 282 | 0.0177 | -10 | c.-29 others(29): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EPN2_chr17_19232366_19341715 | 19295358 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02717.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0102a0001c0001t0004g0103a0001c0001t0004g0104others(7): Show | 10 | 282 | 0.0355 | -10 | c.766 others(27): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EPN2_chr17_19232366_19341715 | 19310571 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0250others(10): Show | 13 | 282 | 0.0461 | -10 | c.879 others(25): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |