view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELAVL3_chr19_11446326_11486046 | 11464736 | CCACACAC others(8): Show |
C | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0301 | 1 | 316 | 0.0032 | -15 | c.333 others(32): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ELAVL3_chr19_11446326_11486046 | 11465111 | TACACCAC others(8): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0029 | a0001c0001t0019g0064 a0001c0001t0019g0065 a0001c0001t0029g0281 others(1): Show |
4 | 316 | 0.0127 | -15 | c.333 others(32): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ELAVL3_chr19_11446326_11486046 | 11465265 | TACACCAC others(8): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(23): Show |
30 | 315 | 0.0952 | -15 | c.333 others(30): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ELAVL3_chr19_11446326_11486046 | 11465301 | CACACACC others(8): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 316 | 0.0032 | -15 | c.333 others(30): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ELAVL3_chr19_11446326_11486046 | 11484482 | ACCACAAC others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 314 | 0.0032 | -15 | c.-38 others(26): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3437 | chr19 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 41016914 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 265 | 0.0038 | -15 | c.-22 others(34): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 41016936 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0221 | 1 | 360 | 0.0028 | -15 | c.-22 others(34): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139081628 | GATAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 340 | 0.0029 | -15 | c.239 others(32): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139092409 | TAACATAC others(8): Show |
T | intron_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0115 | 1 | 340 | 0.0029 | -15 | c.239 others(34): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139134584 | ATTTATTT others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0113 | 1 | 133 | 0.0075 | -15 | c.72+ others(30): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139134613 | ATTTTATT others(8): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01358.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 others(1): Show |
4 | 316 | 0.0127 | -15 | c.72+ others(30): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139172882 | CGGGGGGG others(8): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 44 | 0.0227 | -15 | c.-25 others(34): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
ELFN1_chr7_1665277_1752946 | 1677686 | GCCGATGT others(8): Show |
G | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 300 | 0.0033 | -15 | c.-54 others(34): Show |
ELFN1 | ENSG00000225968.8 | transcript | ENST00000424383.5 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ELFN1_chr7_1665277_1752946 | 1706424 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0025 | a0001c0001t0003a0001c0025t0058 | a0001c0001t0003g0047 a0001c0025t0058g0046 |
2 | 182 | 0.0110 | -15 | c.-45 others(34): Show |
ELFN1 | ENSG00000225968.8 | transcript | ENST00000424383.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ELK3_chr12_96189375_96274824 | 96201413 | GAGTCTGA others(8): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0015 others(4): Show |
7 | 352 | 0.0199 | -15 | c.-3+ others(30): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ELK3_chr12_96189375_96274824 | 96211486 | TTTGTGTG others(8): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 137 | 0.0146 | -15 | c.-2- others(32): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ELL2_chr5_95880098_95966851 | 95954583 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02886.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 others(1): Show |
4 | 306 | 0.0131 | -15 | c.147 others(32): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
ELL3_chr15_43767620_43781966 | 43778581 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 54 | 0.1111 | -15 | c.-16 others(26): Show |
ELL3 | ENSG00000128886.12 | transcript | ENST00000319359.8 | protein_coding | 1616 | chr15 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18491249 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03540.hp2 NA20129.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 a0002c0002t0001g0134 a0002c0002t0001g0135 |
3 | 56 | 0.0536 | -15 | c.136 others(34): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 36885319 | AAACAACA others(8): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01358.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0081 a0001c0002t0004g0047 |
2 | 31 | 0.0645 | -15 | c.171 others(34): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 18/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 36988018 | AAAGTGCT others(8): Show |
A | intron_variant | MODIFIER | HG03130.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0005 a0001c0002t0005g0031 |
2 | 90 | 0.0222 | -15 | c.143 others(36): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37104010 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0002g0030 a0001c0001t0003g0016 a0001c0002t0001g0071 others(4): Show |
7 | 18 | 0.3889 | -15 | c.119 others(34): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 14/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37256724 | GGGGAAGG others(8): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01106.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0005 a0001c0001t0001g0068 a0001c0001t0001g0090 others(39): Show |
42 | 64 | 0.6563 | -15 | c.413 others(32): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 6/21 | chr7 | TogoVar | |||||||
ELMOD3_chr2_85349769_85396748 | 85359274 | GGTACTAT others(8): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01081.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0015 a0003c0003t0001g0082 a0003c0003t0001g0083 others(1): Show |
5 | 384 | 0.0130 | -15 | c.54+ others(30): Show |
ELMOD3 | ENSG00000115459.18 | transcript | ENST00000409013.8 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
ELN_chr7_74023173_74074907 | 74053290 | CCCAGGTG others(8): Show |
C | splice_donor_variant others(3): Show |
HIGH | NA19012.hp1 | a0016 | a0016c0014 | a0016c0014t0001 | a0016c0014t0001g0061 | 1 | 366 | 0.0027 | -15 | c.108 others(26): Show |
p.Ala others(13): Show |
ELN | ENSG00000049540.19 | transcript | ENST00000252034.12 | protein_coding | 18/33 | 1100/3397 | 1085/2175 | 362/724 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ELOA_chr1_23738471_23767059 | 23758247 | ATTTATTT others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0011 | a0003c0011t0010 | a0003c0011t0010g0043 | 1 | 381 | 0.0026 | -15 | c.225 others(34): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELOA_chr1_23738471_23767059 | 23758251 | ATTTATTT others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp2 NA18957.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0120 a0002c0003t0001g0003 |
2 | 306 | 0.0065 | -15 | c.225 others(34): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELOA_chr1_23738471_23767059 | 23765206 | ATTTTTTT others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18940.hp1 NA18940.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0130 a0001c0002t0001g0183 |
2 | 8 | 0.2500 | -15 | c.*56 others(26): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 3148 | chr1 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53304436 | CTTTTATT others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp2 HG02886.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0073 others(5): Show |
10 | 144 | 0.0694 | -15 | c.-8- others(30): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53319270 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03098.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0017 | a0001c0001t0001g0043 a0001c0001t0006g0305 a0001c0001t0017g0300 |
3 | 12 | 0.2500 | -15 | c.-8- others(32): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110044285 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0078 | a0001c0001t0054g0064 a0001c0001t0078g0068 |
2 | 336 | 0.0060 | -15 | c.*70 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1560 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084582 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02083.hp2 NA18945.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0041 | a0001c0001t0004g0201 a0001c0001t0004g0284 a0001c0001t0041g0119 |
3 | 318 | 0.0094 | -15 | c.221 others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110100136 | CTGGCCAT others(8): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0115 others(92): Show |
95 | 336 | 0.2827 | -15 | c.221 others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819020 | AGAGGGGA others(8): Show |
A | intron_variant | MODIFIER | HG03831.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 a0001c0001t0002g0214 |
2 | 229 | 0.0087 | -15 | c.-85 others(34): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELP1_chr9_108862517_108939124 | 108872803 | TGAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03225.hp2 |
a0005a0023 | a0005c0030a0023c0044 | a0005c0030t0001a0023c0044t0001 | a0005c0030t0001g0127 a0023c0044t0001g0126 |
2 | 269 | 0.0074 | -15 | c.393 others(34): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 36/36 | chr9 | TogoVar | |||||||
ELP1_chr9_108862517_108939124 | 108924745 | GCAATCAC others(8): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG02145.hp2 others(5): Show |
a0008 | a0008c0010 | a0008c0010t0009 | a0008c0010t0009g0343 a0008c0010t0009g0345 a0008c0010t0009g0349 others(5): Show |
8 | 414 | 0.0193 | -15 | c.466 others(32): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 5/36 | chr9 | TogoVar | |||||||
ELP3_chr8_28088139_28196153 | 28106539 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(281): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(242): Show |
284 | 334 | 0.8503 | -15 | c.259 others(30): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31593227 | CTGTTGTT others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(132): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0107 others(132): Show |
135 | 141 | 0.9574 | -15 | c.382 others(32): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELSPBP1_chr19_47989632_48030154 | 48003886 | CTTCTATT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(83): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 others(81): Show |
86 | 130 | 0.6615 | -15 | c.-17 others(32): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ELSPBP1_chr19_47989632_48030154 | 48016455 | CTTTTCTT others(8): Show |
C | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 385 | 0.0026 | -15 | c.355 others(30): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EMC3_chr3_9957682_9991841 | 9978145 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0047 | a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0262 others(3): Show |
8 | 16 | 0.5000 | -15 | c.156 others(30): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
EMID1_chr22_29200896_29264597 | 29238254 | AATTATTA others(8): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03195.hp2 |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0002 | a0002c0002t0001g0054 a0002c0008t0002g0049 |
2 | 184 | 0.0109 | -15 | c.107 others(34): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EMID1_chr22_29200896_29264597 | 29250733 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | NA18986.hp1 NA19063.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0132 a0002c0002t0001g0062 |
2 | 20 | 0.1000 | -15 | c.112 others(34): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EMILIN1_chr2_27073615_27091403 | 27086721 | CCGGGGCG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03540.hp2 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0018 | 2 | 291 | 0.0069 | -15 | c.*70 others(24): Show |
EMILIN1 | ENSG00000138080.14 | transcript | ENST00000380320.9 | protein_coding | 319 | chr2 | TogoVar | |||||||
EMILIN2_chr18_2842006_2921003 | 2913222 | CGCCCTCC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | NA19068.hp2 | a0022 | a0022c0034 | a0022c0034t0002 | a0022c0034t0002g0347 | 1 | 450 | 0.0022 | -15 | c.298 others(24): Show |
p.Arg others(13): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 8/8 | 3164/5944 | 2981/3162 | 994/1053 | chr18 | TogoVar | |||
EML1_chr14_99788413_99947060 | 99806316 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0261 | 1 | 115 | 0.0087 | -15 | c.67+ others(32): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928143 | GTGGTGGT others(8): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0234 | 1 | 246 | 0.0041 | -15 | c.190 others(34): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42289913 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 215 | 0.0047 | -15 | c.121 others(34): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88663452 | TATATAGT others(8): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01257.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0283 others(15): Show |
19 | 330 | 0.0576 | -15 | c.341 others(32): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 23/43 | chr14 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54774462 | CCAACAGC others(8): Show |
C | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 262 | 0.0038 | -15 | c.198 others(34): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |