view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELK4_chr1_205602943_205637011 | 205604005 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00639.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(37): Show | 66 | 424 | 0.1557 | 8 | c.*12 others(21): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 3937 | chr1 | TogoVar | |||||||
ELK4_chr1_205602943_205637011 | 205617965 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02717.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0051 | a0001c0001t0007g0135a0001c0001t0007g0136a0001c0001t0007g0140others(1): Show | 4 | 424 | 0.0094 | 8 | c.119 others(25): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
ELK4_chr1_205602943_205637011 | 205629170 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01071.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0002a0001c0002t0014others(2): Show | a0001c0001t0013g0018a0001c0001t0013g0183a0001c0002t0002g0014others(7): Show | 15 | 424 | 0.0354 | 8 | c.-10 others(25): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95910947 | C | CAATTTGG others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01891.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006a0002c0002t0018 | a0002c0002t0001g0121a0002c0002t0001g0124a0002c0002t0001g0125others(7): Show | 10 | 314 | 0.0319 | 8 | c.481 others(25): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 4/11 | chr5 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95920277 | A | ATATTTAT others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG04204.hp1 HG04228.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0002a0001c0005t0010a0002c0002t0001 | a0001c0001t0002g0264a0001c0001t0002g0266a0001c0001t0002g0297others(2): Show | 5 | 314 | 0.0159 | 8 | c.196 others(23): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95948429 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01109.hp1 HG01168.hp1 others(16): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0002 | a0001c0003t0004a0001c0003t0005a0001c0003t0007others(4): Show | a0001c0003t0004g0003a0001c0003t0004g0004a0001c0003t0004g0029others(14): Show | 19 | 314 | 0.0605 | 8 | c.148 others(25): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18462335 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01123.hp1 others(13): Show |
a0001a0003a0006 | a0001c0001a0001c0007a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0007t0009others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010others(13): Show | 16 | 244 | 0.0656 | 8 | c.470 others(23): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 4/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18462366 | T | TGTGTGGG others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02055.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0191a0001c0001t0001g0206 | 3 | 244 | 0.0123 | 8 | c.470 others(23): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 4/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18482308 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02145.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0209a0001c0001t0002g0018a0001c0001t0002g0028others(5): Show | 8 | 244 | 0.0328 | 8 | c.136 others(25): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18496448 | T | TTCCTCTA others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03041.hp2 NA18906.hp2 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0156a0001c0004t0006g0157a0001c0004t0006g0158 | 3 | 244 | 0.0123 | 8 | c.136 others(27): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 36970180 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0030a0001c0001t0004g0063a0001c0001t0005g0073others(4): Show | 7 | 92 | 0.0761 | 8 | c.143 others(29): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37000938 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02109.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0085a0001c0001t0002g0030a0001c0001t0003g0072others(4): Show | 7 | 92 | 0.0761 | 8 | c.143 others(29): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37025895 | T | TTCTATCT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG01258.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0040a0001c0001t0002g0002a0001c0001t0002g0030others(23): Show | 26 | 92 | 0.2826 | 8 | c.130 others(29): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37050609 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02922.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0003a0001c0002t0007 | a0001c0001t0016g0060a0001c0002t0003g0037a0001c0002t0007g0064 | 3 | 92 | 0.0326 | 8 | c.130 others(29): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37053285 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03579.hp2 NA19090.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0002t0003a0001c0003t0002 | a0001c0001t0008g0059a0001c0002t0003g0051a0001c0003t0002g0089 | 3 | 92 | 0.0326 | 8 | c.130 others(29): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37086330 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02109.hp2 HG02818.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0090a0001c0001t0002g0002others(6): Show | 9 | 92 | 0.0978 | 8 | c.130 others(29): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37086765 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01361.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0003t0008a0001c0005t0007 | a0001c0002t0002g0048a0001c0003t0008g0045a0001c0003t0008g0079others(1): Show | 4 | 92 | 0.0435 | 8 | c.130 others(27): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37126300 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02559.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0007 | a0001c0001t0003g0026a0001c0002t0001g0010a0001c0002t0007g0064 | 3 | 92 | 0.0326 | 8 | c.119 others(27): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 14/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37161905 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02886.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0005a0001c0003t0002a0001c0006t0004others(1): Show | a0001c0001t0005g0006a0001c0003t0002g0091a0001c0006t0004g0058others(1): Show | 4 | 92 | 0.0435 | 8 | c.108 others(29): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37246773 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02818.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0068others(7): Show | 10 | 92 | 0.1087 | 8 | c.414 others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 6/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37246866 | C | CTCTATCT others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0015a0001c0002t0003a0001c0002t0005others(2): Show | a0001c0001t0015g0061a0001c0002t0003g0013a0001c0002t0005g0031others(2): Show | 5 | 92 | 0.0544 | 8 | c.414 others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 6/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37247895 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0002 | a0001c0001t0005g0006a0001c0004t0002g0086 | 2 | 92 | 0.0217 | 8 | c.414 others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 6/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37258461 | G | GAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0068a0001c0001t0002g0067 | 2 | 92 | 0.0217 | 8 | c.413 others(23): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 6/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37279204 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0007 | a0001c0001t0004g0036a0001c0002t0007g0001 | 2 | 92 | 0.0217 | 8 | c.193 others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 4/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37328383 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02630.hp1 HG04228.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0068a0001c0001t0004g0080a0001c0002t0002g0049others(2): Show | 5 | 92 | 0.0544 | 8 | c.79- others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37331333 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01243.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0022a0001c0001t0001g0029a0001c0001t0001g0068others(12): Show | 15 | 92 | 0.1630 | 8 | c.78+ others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37391006 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 NA19240.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0002t0007a0001c0003t0008others(1): Show | a0001c0002t0002g0048a0001c0002t0007g0001a0001c0003t0008g0079others(1): Show | 4 | 92 | 0.0435 | 8 | c.-73 others(27): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37428030 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02486.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(5): Show | a0001c0001t0002g0019a0001c0001t0002g0030a0001c0001t0004g0063others(6): Show | 9 | 92 | 0.0978 | 8 | c.-74 others(27): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37449431 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG01361.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0029a0001c0001t0001g0085a0001c0001t0004g0043others(11): Show | 14 | 92 | 0.1522 | 8 | c.-83 others(17): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 568 | chr7 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46369959 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 NA19057.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012a0001c0001t0005g0024 | 5 | 312 | 0.0160 | 8 | c.188 others(25): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 20/21 | chr20 | TogoVar | |||||||
ELMOD1_chr11_107586147_107671779 | 107590413 | T | TCCCTCCC others(1): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 HG02818.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0332a0001c0001t0002g0075a0001c0001t0003g0069others(3): Show | 6 | 342 | 0.0175 | 8 | c.-10 others(19): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 733 | chr11 | TogoVar | |||||||
ELMOD1_chr11_107586147_107671779 | 107599740 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(153): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0014others(151): Show | 156 | 342 | 0.4561 | 8 | c.-86 others(25): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107599748 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG02615.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0002others(3): Show | a0001c0001t0001g0319a0001c0001t0001g0320a0001c0001t0001g0322others(9): Show | 12 | 342 | 0.0351 | 8 | c.-86 others(25): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107646943 | A | AATCTATC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01168.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0005a0001c0001t0002g0097a0001c0001t0002g0193others(5): Show | 9 | 342 | 0.0263 | 8 | c.421 others(23): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107655573 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00735.hp1 others(53): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0126a0001c0001t0002g0005a0001c0001t0002g0022others(52): Show | 56 | 342 | 0.1637 | 8 | c.699 others(23): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD2_chr4_140519168_140558770 | 140535133 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18975.hp2 NA19056.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0095a0002c0002t0002g0026 | 3 | 370 | 0.0081 | 8 | c.172 others(23): Show |
ELMOD2 | ENSG00000179387.10 | transcript | ENST00000323570.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ELMOD3_chr2_85349769_85396748 | 85364804 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01074.hp2 HG03654.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0114a0001c0001t0001g0126a0001c0001t0001g0281others(2): Show | 5 | 386 | 0.0130 | 8 | c.199 others(25): Show |
ELMOD3 | ENSG00000115459.18 | transcript | ENST00000409013.8 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ELMOD3_chr2_85349769_85396748 | 85382521 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00735.hp2 others(14): Show |
a0004a0007 | a0004c0004a0007c0015 | a0004c0004t0003a0007c0015t0003 | a0004c0004t0003g0008a0004c0004t0003g0009a0004c0004t0003g0010others(8): Show | 17 | 386 | 0.0440 | 8 | c.738 others(25): Show |
ELMOD3 | ENSG00000115459.18 | transcript | ENST00000409013.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ELN_chr7_74023173_74074907 | 74031860 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(101): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0017a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0016others(100): Show | 104 | 366 | 0.2842 | 8 | c.83- others(23): Show |
ELN | ENSG00000049540.19 | transcript | ENST00000252034.12 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ELN_chr7_74023173_74074907 | 74049068 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG02896.hp2 others(7): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0021 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0156others(7): Show | 10 | 366 | 0.0273 | 8 | c.799 others(23): Show |
ELN | ENSG00000049540.19 | transcript | ENST00000252034.12 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ELN_chr7_74023173_74074907 | 74050605 | G | GCATTCAT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 NA18995.hp2 NA18999.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0199a0001c0001t0003g0200a0001c0001t0003g0214others(1): Show | 4 | 366 | 0.0109 | 8 | c.800 others(25): Show |
ELN | ENSG00000049540.19 | transcript | ENST00000252034.12 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ELOC_chr8_73940119_73977191 | 73948835 | A | ACAAGCAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02615.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0039a0001c0001t0001g0175a0001c0001t0001g0234others(7): Show | 11 | 404 | 0.0272 | 8 | c.149 others(25): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73975355 | G | GTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01169.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0044a0001c0001t0001g0252a0001c0001t0001g0253others(17): Show | 20 | 404 | 0.0495 | 8 | c.-33 others(19): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3165 | chr8 | TogoVar | |||||||
ELOF1_chr19_11548046_11564230 | 11550937 | G | GCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01123.hp2 HG01517.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0006g0004others(5): Show | 9 | 412 | 0.0218 | 8 | c.*28 others(19): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 2108 | chr19 | TogoVar | |||||||
ELOF1_chr19_11548046_11564230 | 11553582 | T | TACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG02273.hp1 NA18940.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0055a0001c0001t0056 | a0001c0001t0020g0016a0001c0001t0055g0079a0001c0001t0056g0104 | 7 | 412 | 0.0170 | 8 | c.*15 others(17): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 4/4 | 163 | chr19 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 10978306 | T | TATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0036others(23): Show | 26 | 380 | 0.0684 | 8 | c.*54 others(19): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2452 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11043404 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG01106.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(7): Show | a0001c0001t0001g0084a0001c0001t0001g0113a0001c0001t0001g0116others(40): Show | 46 | 380 | 0.1211 | 8 | c.3+8 others(19): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11043467 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02922.hp2 NA18967.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0027 | a0001c0001t0003g0311a0001c0001t0003g0312a0001c0001t0003g0313others(5): Show | 8 | 380 | 0.0211 | 8 | c.3+7 others(19): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL4_chr6_79909814_79952553 | 79939503 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01891.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0139a0001c0001t0004g0068a0001c0001t0005g0044others(13): Show | 24 | 354 | 0.0678 | 8 | c.100 others(25): Show |
ELOVL4 | ENSG00000118402.6 | transcript | ENST00000369816.5 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306312 | A | AGGGGAGA others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02135.hp1 HG02523.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0201a0001c0001t0001g0207others(5): Show | 10 | 320 | 0.0313 | 8 | c.-8- others(25): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar |