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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML6_chr2_54718662_54977025 | 54789513 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01071.hp2 others(29): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(13): Show | a0001c0001t0001g0063a0001c0001t0001g0076a0001c0001t0001g0147others(29): Show | 32 | 264 | 0.1212 | -9 | c.198 others(28): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54802618 | ATACTACT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01516.hp2 HG01517.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0001a0001c0002t0044a0001c0004t0040others(1): Show | a0001c0002t0001g0214a0001c0002t0044g0210a0001c0004t0040g0094others(2): Show | 5 | 264 | 0.0189 | -9 | c.198 others(28): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EN1_chr2_118837171_118852648 | 118842522 | AAATAATT others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18945.hp1 NA18951.hp1 NA18959.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011a0001c0001t0003g0046 | 7 | 442 | 0.0158 | -9 | c.*40 others(18): Show |
EN1 | ENSG00000163064.7 | transcript | ENST00000295206.7 | protein_coding | 2/2 | 407 | chr2 | TogoVar | |||||
EN2_chr7_155453129_155469831 | 155454909 | GCCCCGCA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0021a0001c0002t0040a0001c0003t0001others(14): Show | a0001c0002t0021g0019a0001c0002t0040g0039a0001c0003t0001g0001others(17): Show | 52 | 432 | 0.1204 | -9 | c.-34 others(20): Show |
EN2 | ENSG00000164778.4 | transcript | ENST00000297375.4 | protein_coding | 3219 | chr7 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225562571 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02886.hp1 HG03017.hp2 others(8): Show |
a0001a0002 | a0001c0003a0001c0008a0002c0002 | a0001c0003t0014a0001c0003t0029a0001c0003t0107others(4): Show | a0001c0003t0014g0022a0001c0003t0014g0049a0001c0003t0014g0050others(8): Show | 11 | 308 | 0.0357 | -9 | c.171 others(26): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
ENO2_chr12_6909580_6928697 | 6913551 | GTTTGTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01993.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0011a0001c0001t0004g0004a0001c0001t0004g0015 | 6 | 376 | 0.0160 | -9 | c.-11 others(20): Show |
ENO2 | ENSG00000111674.9 | transcript | ENST00000229277.6 | protein_coding | 1028 | chr12 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667363 | GAGATGGT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0001t0017a0001c0001t0019others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0017others(32): Show | 37 | 418 | 0.0885 | -9 | c.*69 others(20): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2954 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667447 | GTGATGGT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01256.hp1 HG02004.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0016a0001c0003t0001others(4): Show | a0001c0001t0001g0324a0001c0001t0001g0339a0001c0001t0016g0265others(17): Show | 20 | 418 | 0.0479 | -9 | c.*68 others(20): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2870 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667454 | TGATGATG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0053a0001c0001t0001g0108a0001c0001t0001g0194others(23): Show | 26 | 418 | 0.0622 | -9 | c.*68 others(20): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2863 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 669366 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp2 others(36): Show |
a0003a0007 | a0003c0004a0003c0007a0007c0019 | a0003c0004t0003a0003c0004t0004a0003c0004t0015others(3): Show | a0003c0004t0003g0012a0003c0004t0003g0013a0003c0004t0003g0347others(34): Show | 39 | 418 | 0.0933 | -9 | c.*49 others(20): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 951 | chr18 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43309025 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01258.hp2 HG01261.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0065a0001c0001t0003g0067a0001c0001t0004g0088others(8): Show | 11 | 188 | 0.0585 | -9 | c.126 others(30): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 11/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43348956 | CATAGTAT others(2): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03139.hp2 HG03471.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0003a0001c0001t0015a0001c0001t0032others(1): Show | a0001c0001t0003g0055a0001c0001t0015g0004a0001c0001t0032g0167others(1): Show | 4 | 188 | 0.0213 | -9 | c.824 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 8/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43718676 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp2 HG01516.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0002g0063a0001c0001t0005g0140a0001c0001t0005g0145others(24): Show | 27 | 188 | 0.1436 | -9 | c.-28 others(30): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43734199 | GGTTGTTG others(2): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0009a0001c0002t0016others(1): Show | a0001c0001t0005g0170a0001c0001t0005g0172a0001c0001t0005g0173others(3): Show | 6 | 188 | 0.0319 | -9 | c.-28 others(30): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43736489 | TCAAATTG others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02280.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0003g0021a0001c0001t0004g0044a0001c0001t0004g0045others(11): Show | 14 | 188 | 0.0745 | -9 | c.-28 others(30): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
ENOX2_chrX_130617325_130908209 | 130682583 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0007 | 1 | 154 | 0.0065 | -9 | c.254 others(26): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 5/14 | chrX | TogoVar | ||||||
ENPEP_chr4_110471155_110570285 | 110548139 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00741.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0208a0001c0001t0002g0140a0001c0001t0004g0121others(24): Show | 30 | 312 | 0.0962 | -9 | c.200 others(24): Show |
ENPEP | ENSG00000138792.10 | transcript | ENST00000265162.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ENPP1_chr6_131803020_131900155 | 131896426 | CGCAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01891.hp2 HG02486.hp1 others(18): Show |
a0001a0002a0012 | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0033a0001c0007t0042a0002c0002t0004others(10): Show | a0001c0001t0033g0016a0001c0007t0042g0150a0002c0002t0004g0009others(18): Show | 21 | 292 | 0.0719 | -9 | c.*59 others(20): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 1272 | chr6 | TogoVar | ||||||
ENPP2_chr8_119552086_119643839 | 119592825 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02809.hp1 others(11): Show |
a0001 | a0001c0002a0001c0004a0001c0015 | a0001c0002t0001a0001c0004t0003a0001c0015t0001 | a0001c0002t0001g0012a0001c0002t0001g0023a0001c0002t0001g0037others(11): Show | 14 | 340 | 0.0412 | -9 | c.108 others(26): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 12/24 | chr8 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131732710 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03579.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151a0001c0001t0002g0155a0001c0001t0002g0201 | 3 | 278 | 0.0108 | -9 | c.195 others(26): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP6_chr4_184083706_184222873 | 184093640 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG02258.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0002a0001c0002t0012a0001c0003t0003others(4): Show | a0001c0002t0002g0124a0001c0002t0012g0132a0001c0003t0003g0086others(8): Show | 11 | 320 | 0.0344 | -9 | c.111 others(28): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 7/7 | chr4 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184131192 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02895.hp1 HG02897.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0004a0002c0001t0001others(1): Show | a0001c0002t0001g0178a0001c0003t0004g0025a0001c0003t0004g0135others(5): Show | 8 | 320 | 0.0250 | -9 | c.422 others(26): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184131259 | TCTTCCTT others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02965.hp2 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0001a0002c0001t0020 | a0001c0003t0003g0127a0002c0001t0001g0068a0002c0001t0001g0069others(1): Show | 4 | 320 | 0.0125 | -9 | c.422 others(26): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
ENPP7_chr17_79725943_79747219 | 79728919 | GTCGACCC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00741.hp1 others(49): Show |
a0001a0006a0012 | a0001c0002a0001c0003a0006c0014others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0002a0001c0002t0001g0009a0001c0002t0001g0013others(21): Show | 52 | 430 | 0.1209 | -9 | c.-22 others(20): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 2023 | chr17 | TogoVar | ||||||
ENPP7_chr17_79725943_79747219 | 79746195 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01981.hp2 HG02109.hp2 HG02257.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0006others(2): Show | a0001c0002t0002a0001c0004t0002a0001c0006t0006others(3): Show | a0001c0002t0002g0009a0001c0002t0002g0091a0001c0004t0002g0063others(7): Show | 10 | 430 | 0.0233 | -9 | c.*44 others(20): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 3977 | chr17 | TogoVar | ||||||
ENTPD1_chr10_95751163_95882266 | 95760814 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01261.hp1 HG02055.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0021others(5): Show | a0001c0001t0002g0034a0001c0001t0002g0055a0001c0001t0002g0057others(11): Show | 14 | 340 | 0.0412 | -9 | c.16+ others(24): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ENTPD1_chr10_95751163_95882266 | 95788616 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02486.hp1 HG02559.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0038a0001c0001t0060 | a0001c0001t0007g0014a0001c0001t0007g0300a0001c0001t0007g0301others(7): Show | 11 | 340 | 0.0324 | -9 | c.16+ others(26): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ENTPD5_chr14_73958230_74024288 | 74001666 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01934.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0005a0002c0003t0009 | a0001c0002t0005g0003a0001c0002t0005g0022a0001c0002t0005g0023others(4): Show | 8 | 380 | 0.0211 | -9 | c.-71 others(26): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | ||||||
ENTREP1_chr9_69320215_69397456 | 69388873 | GTTCACAT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0216a0001c0001t0001g0217others(1): Show | 4 | 342 | 0.0117 | -9 | c.160 others(26): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 10/10 | chr9 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29174701 | ACAAAACA others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02886.hp1 others(1): Show |
a0002a0003 | a0002c0004a0002c0005a0003c0006others(1): Show | a0002c0004t0015a0002c0005t0003a0003c0006t0001others(1): Show | a0002c0004t0015g0007a0002c0005t0003g0076a0003c0006t0001g0108others(1): Show | 4 | 125 | 0.0320 | -9 | c.522 others(28): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 4/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29231881 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02886.hp1 HG03098.hp2 others(1): Show |
a0002a0003 | a0002c0005a0002c0009a0003c0006 | a0002c0005t0003a0002c0009t0003a0002c0009t0015others(1): Show | a0002c0005t0003g0076a0002c0009t0003g0044a0002c0009t0015g0029others(1): Show | 4 | 125 | 0.0320 | -9 | c.387 others(28): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29335723 | GACAGTCC others(2): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01169.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0008a0002c0003a0002c0005others(9): Show | a0001c0008t0007a0002c0003t0013a0002c0003t0032others(10): Show | a0001c0008t0007g0106a0002c0003t0013g0017a0002c0003t0013g0019others(14): Show | 17 | 125 | 0.1360 | -9 | c.276 others(28): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29444173 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp1 NA19240.hp1 |
a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0067a0003c0014t0002g0103 | 2 | 125 | 0.0160 | -9 | c.220 others(28): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29444467 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG02630.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0002c0004others(3): Show | a0001c0001t0002a0002c0003t0021a0002c0004t0003others(4): Show | a0001c0001t0002g0060a0002c0003t0021g0016a0002c0004t0003g0052others(6): Show | 9 | 125 | 0.0720 | -9 | c.220 others(28): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29479206 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02622.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0008a0001c0011others(7): Show | a0001c0002t0001a0001c0008t0007a0001c0011t0010others(8): Show | a0001c0002t0001g0082a0001c0008t0007g0039a0001c0008t0007g0115others(11): Show | 14 | 125 | 0.1120 | -9 | c.219 others(28): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29568710 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01167.hp1 HG01167.hp2 others(35): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(23): Show | a0001c0001t0001g0096a0001c0001t0001g0098a0001c0001t0001g0112others(35): Show | 38 | 125 | 0.3040 | -9 | c.219 others(26): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
EOLA1_chrX_149536012_149553331 | 149546154 | ATGGTGTT others(2): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0013 | a0002c0004t0013g0021 | 2 | 315 | 0.0064 | -9 | c.253 others(24): Show |
EOLA1 | ENSG00000197620.11 | transcript | ENST00000393985.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EOLA2_chrX_149927197_149943491 | 149931804 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | NA19090.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0060 | 1 | 331 | 0.0030 | -9 | c.*73 others(18): Show |
EOLA2 | ENSG00000197021.9 | transcript | ENST00000370406.8 | protein_coding | 392 | chrX | TogoVar | ||||||
EOMES_chr3_27710953_27727323 | 27722866 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01070.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(12): Show | 24 | 400 | 0.0600 | -9 | c.-58 others(18): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 544 | chr3 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41110282 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(45): Show |
a0001a0005a0006 | a0001c0002a0001c0016a0001c0018others(2): Show | a0001c0002t0004a0001c0002t0005a0001c0002t0006others(26): Show | a0001c0002t0004g0097a0001c0002t0005g0070a0001c0002t0006g0055others(45): Show | 48 | 300 | 0.1600 | -9 | c.95- others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41179877 | CACTCACA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01257.hp2 HG02083.hp1 HG03834.hp1 others(3): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0022a0001c0002t0056a0001c0002t0060others(1): Show | a0001c0002t0022g0069a0001c0002t0022g0086a0001c0002t0022g0098others(3): Show | 6 | 300 | 0.0200 | -9 | c.*92 others(18): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 922 | chr22 | TogoVar | |||||
EP400_chr12_131944942_132085460 | 131972674 | CCTGTTAG others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
a0001a0003a0006 | a0001c0021a0003c0013a0006c0064 | a0001c0021t0006a0003c0013t0006a0006c0064t0006 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(1): Show | 4 | 208 | 0.0192 | -9 | c.133 others(28): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | TogoVar | ||||||
EPAS1_chr2_46292407_46391697 | 46340304 | ACTGTCAG others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0017a0002c0002t0001others(3): Show | a0001c0001t0001g0293a0001c0001t0001g0294a0001c0001t0017g0302others(7): Show | 10 | 326 | 0.0307 | -9 | c.27- others(24): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPAS1_chr2_46292407_46391697 | 46362968 | GGTGGTGG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0083others(86): Show | 91 | 326 | 0.2791 | -9 | c.779 others(26): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPAS1_chr2_46292407_46391697 | 46362977 | AGTGGTGG others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0009a0001c0001t0001g0078a0001c0001t0001g0079others(53): Show | 56 | 326 | 0.1718 | -9 | c.779 others(26): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPB41L1_chr20_36149740_36237799 | 36237750 | GTATTATT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01070.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0020others(4): Show | a0001c0001t0002g0097a0001c0001t0002g0134a0001c0001t0004g0121others(7): Show | 10 | 236 | 0.0424 | -9 | c.*84 others(20): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 4952 | chr20 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130953984 | AAACTAAG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(319): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(319): Show | 322 | 356 | 0.9045 | -9 | c.705 others(26): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130954036 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0120a0001c0001t0002g0121a0001c0001t0002g0122others(7): Show | 10 | 356 | 0.0281 | -9 | c.705 others(26): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109226686 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01261.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0052a0001c0001t0001g0108a0001c0001t0001g0109others(31): Show | 34 | 318 | 0.1069 | -9 | c.141 others(28): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 15/25 | chr9 | TogoVar | ||||||
EPB41L5_chr2_120008077_120184119 | 120123646 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | 278 | 0.0324 | -9 | c.133 others(28): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |