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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DOC2B_chr17_137789_186650 | 171725 | GGCAGCAC others(57): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0101 | 1 | 339 | 0.0030 | -64 | c.453 others(79): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126938768 | GACAGGAG others(57): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00741.hp2 others(62): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(38): Show | a0001c0001t0002a0001c0001t0016a0001c0002t0001others(45): Show | a0001c0001t0002g0008a0001c0001t0002g0021a0001c0001t0002g0128others(62): Show | 65 | 136 | 0.4779 | -64 | c.47- others(81): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK2_chr5_169632275_170088382 | 169664968 | ATATCAGC others(57): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG03491.hp2 others(3): Show |
a0001a0002a0013others(1): Show | a0001c0004a0001c0010a0001c0076others(3): Show | a0001c0004t0001a0001c0010t0001a0001c0076t0003others(3): Show | a0001c0004t0001g0077a0001c0010t0001g0101a0001c0076t0003g0092others(3): Show | 6 | 184 | 0.0326 | -64 | c.128 others(81): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 2/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DOCK5_chr8_25179689_25420711 | 25216145 | TATACAAT others(57): Show |
T | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0140 | 1 | 210 | 0.0048 | -64 | c.44- others(81): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK5_chr8_25179689_25420711 | 25216512 | TATGTATA others(57): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0008others(4): Show | a0001c0001t0037a0001c0004t0018a0001c0004t0019others(6): Show | a0001c0001t0037g0136a0001c0004t0018g0074a0001c0004t0019g0139others(6): Show | 9 | 210 | 0.0429 | -64 | c.44- others(81): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK5_chr8_25179689_25420711 | 25216544 | TATGTATA others(57): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp1 HG03540.hp1 others(4): Show |
a0001a0002a0015 | a0001c0001a0001c0005a0001c0012others(3): Show | a0001c0001t0024a0001c0005t0001a0001c0005t0002others(4): Show | a0001c0001t0024g0036a0001c0005t0001g0119a0001c0005t0002g0100others(4): Show | 7 | 210 | 0.0333 | -64 | c.44- others(81): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK5_chr8_25179689_25420711 | 25216593 | CATACAAT others(57): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0108 | 1 | 210 | 0.0048 | -64 | c.44- others(81): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400457 | TCACCATC others(57): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0099 | a0002c0099t0004 | a0002c0099t0004g0031 | 1 | 256 | 0.0039 | -64 | c.323 others(83): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 403892 | CTATATAT others(57): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0155 | a0005c0155t0001 | a0005c0155t0001g0176 | 1 | 256 | 0.0039 | -64 | c.323 others(82): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 403914 | ATACATAT others(57): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp1 HG02976.hp1 others(1): Show |
a0004a0005a0014others(1): Show | a0004c0044a0005c0144a0014c0034others(1): Show | a0004c0044t0001a0005c0144t0004a0014c0034t0004others(1): Show | a0004c0044t0001g0072a0005c0144t0004g0028a0014c0034t0004g0128others(1): Show | 4 | 256 | 0.0156 | -64 | c.323 others(82): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DPH7_chr9_137549444_137583925 | 137566693 | CTCTGTCT others(57): Show |
C | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 340 | 0.0029 | -64 | c.641 others(81): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137566959 | CTCTGTCT others(57): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0197 | 2 | 340 | 0.0059 | -64 | c.641 others(81): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137568083 | CTCTGTCT others(57): Show |
C | intron_variant | MODIFIER | HG02738.hp2 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226a0001c0001t0001g0228 | 2 | 340 | 0.0059 | -64 | c.641 others(81): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
DPP9_chr19_4670227_4728842 | 4672405 | TTATATAT others(57): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0305 | 1 | 314 | 0.0032 | -64 | c.*40 others(75): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 2821 | chr19 | TogoVar | ||||||
DRC7_chr16_57689806_57736805 | 57693734 | CTTAGCAC others(57): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(210): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0023a0002c0002others(27): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(38): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0028others(182): Show | 213 | 388 | 0.5490 | -64 | c.-12 others(75): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 1071 | chr16 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158947796 | TGGGATGA others(57): Show |
T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0108 | 1 | 196 | 0.0051 | -64 | c.555 others(85): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26002884 | AGGCGGGC others(57): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0032a0001c0001t0002g0022a0001c0001t0002g0076others(23): Show | 26 | 220 | 0.1182 | -64 | c.551 others(83): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EDC3_chr15_74625558_74701024 | 74694276 | CCCACCAC others(57): Show |
C | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 | 1 | 286 | 0.0035 | -64 | c.-19 others(81): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
EDN3_chr20_59295611_59330992 | 59326390 | GGCACTGC others(57): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02976.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0015g0191 | 3 | 398 | 0.0075 | -64 | c.*19 others(75): Show |
EDN3 | ENSG00000124205.18 | transcript | ENST00000337938.7 | protein_coding | 399 | chr20 | TogoVar | ||||||
EGFL7_chr9_136657916_136677678 | 136669238 | GGGCTCCG others(57): Show |
G | intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 432 | 0.0023 | -64 | c.198 others(79): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 5/10 | chr9 | TogoVar | ||||||
EHD1_chr11_64846642_64883621 | 64855856 | TTCAACCC others(57): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02451.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0014a0001c0002t0017others(5): Show | a0001c0002t0004g0030a0001c0002t0004g0122a0001c0002t0004g0123others(14): Show | 20 | 354 | 0.0565 | -64 | c.916 others(79): Show |
EHD1 | ENSG00000110047.18 | transcript | ENST00000320631.8 | protein_coding | 3/4 | chr11 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377467 | TGGAGGAA others(57): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0010t0001a0002c0002t0001 | a0001c0001t0001g0042a0001c0001t0001g0045a0001c0001t0001g0162others(20): Show | 26 | 384 | 0.0677 | -64 | c.215 others(81): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2377531 | AGGAGGAA others(57): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0196a0001c0017t0001g0237 | 2 | 384 | 0.0052 | -64 | c.215 others(81): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2377618 | TCTCCTGG others(57): Show |
T | intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0248 | 1 | 384 | 0.0026 | -64 | c.215 others(81): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2377631 | CGTGTTCT others(57): Show |
C | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0208 | 1 | 384 | 0.0026 | -64 | c.215 others(81): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2377999 | TCTCCTGG others(57): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG04115.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0205a0001c0003t0001g0211 | 2 | 384 | 0.0052 | -64 | c.215 others(81): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2378063 | GCTCCTGG others(57): Show |
G | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0344 | 1 | 384 | 0.0026 | -64 | c.215 others(81): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2378369 | GGCGAGCG others(57): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01109.hp2 others(58): Show |
a0001a0002a0007 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0041a0001c0001t0001g0042others(51): Show | 61 | 384 | 0.1589 | -64 | c.215 others(81): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2378443 | CCTGGGAA others(57): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG03516.hp2 NA18994.hp2 others(2): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0012a0001c0001t0015others(1): Show | a0001c0001t0001g0120a0001c0001t0001g0136a0001c0001t0012g0102others(2): Show | 5 | 384 | 0.0130 | -64 | c.215 others(81): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2378495 | GGCGCGAG others(57): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 384 | 0.0026 | -64 | c.215 others(81): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF4G3_chr1_20801479_21181897 | 20981603 | GCACATAC others(57): Show |
G | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0035 | 1 | 312 | 0.0032 | -64 | c.199 others(79): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 8/36 | chr1 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139092366 | TCATAACG others(57): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 342 | 0.0029 | -64 | c.239 others(83): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796746 | TATTATAT others(57): Show |
T | upstream_gene_variant | MODIFIER | HG01928.hp2 HG02165.hp1 HG02559.hp2 others(19): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0023a0001c0001t0028others(5): Show | a0001c0001t0003g0039a0001c0001t0003g0040a0001c0001t0003g0041others(19): Show | 22 | 332 | 0.0663 | -64 | c.-43 others(75): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3794 | chr14 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43616118 | ATCTATAG others(57): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00639.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0002g0036a0001c0001t0002g0050a0001c0001t0002g0064others(20): Show | 23 | 188 | 0.1223 | -64 | c.-21 others(85): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131995717 | CTGAGTGT others(57): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01167.hp2 others(32): Show |
a0001a0003a0004others(9): Show | a0001c0006a0001c0046a0001c0056others(15): Show | a0001c0006t0001a0001c0006t0005a0001c0046t0001others(17): Show | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(32): Show | 35 | 208 | 0.1683 | -64 | c.282 others(81): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EP400_chr12_131944942_132085460 | 131995835 | GCCGTTCA others(57): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02896.hp1 |
a0002a0027 | a0002c0073a0027c0031 | a0002c0073t0010a0027c0031t0001 | a0002c0073t0010g0207a0027c0031t0001g0072 | 2 | 208 | 0.0096 | -64 | c.282 others(82): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97572223 | TCACTGCA others(57): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0082 | 1 | 82 | 0.0122 | -64 | c.238 others(85): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ERC2_chr3_55503311_56473467 | 55720171 | TCTTCTTC others(57): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 74 | 0.0135 | -64 | c.271 others(85): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 700152 | GACCCGCA others(57): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG02523.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0152a0001c0001t0001g0162others(7): Show | 10 | 378 | 0.0265 | -64 | c.170 others(81): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98073426 | CTCTCTCT others(57): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 442 | 0.0023 | -64 | c.58+ others(79): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98073430 | CTCTATAT others(57): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0064 | 3 | 442 | 0.0068 | -64 | c.58+ others(79): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98073452 | ATATATAT others(57): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG02486.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0055a0001c0001t0001g0066a0001c0001t0002g0067others(2): Show | 5 | 442 | 0.0113 | -64 | c.58+ others(79): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98073460 | GTATATAT others(57): Show |
G | intron_variant | MODIFIER | HG01516.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0072 | 1 | 442 | 0.0023 | -64 | c.58+ others(79): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERO1B_chr1_236210101_236286958 | 236239440 | TACCAACC others(57): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 396 | 0.0025 | -64 | c.506 others(81): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 6/15 | chr1 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729274 | AGCAGGTG others(57): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0192a0001c0001t0017g0193 | 2 | 370 | 0.0054 | -64 | c.*48 others(75): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1722 | chr7 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108747162 | TATTATAT others(57): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0317others(2): Show | 7 | 378 | 0.0185 | -64 | c.108 others(81): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108747164 | TTATATAT others(57): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 378 | 0.0027 | -64 | c.108 others(81): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | ||||||
ETS2_chr21_38800929_38829955 | 38815981 | AGGAAGGA others(57): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0293 | 1 | 426 | 0.0024 | -64 | c.505 others(80): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
EVI5L_chr19_7825218_7869976 | 7861115 | TCTCCCAC others(57): Show |
T | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0210 | 1 | 396 | 0.0025 | -64 | c.150 others(81): Show |
EVI5L | ENSG00000142459.9 | transcript | ENST00000538904.7 | protein_coding | 14/19 | chr19 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 541555 | TATCGCAG others(57): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01167.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0064a0001c0001t0002g0032a0001c0001t0003g0059others(9): Show | 12 | 272 | 0.0441 | -64 | c.223 others(83): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 22/27 | chr6 | TogoVar |