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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELL_chr19_18437663_18527070 | 18462204 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02717.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0016 | a0001c0001t0001a0009c0016t0001 | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(2): Show |
5 | 244 | 0.0205 | -18 | c.470 others(33): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 4/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18467631 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 244 | 0.0041 | -18 | c.184 others(35): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 2/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18491249 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(50): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0015a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(6): Show | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(50): Show |
53 | 244 | 0.2172 | -18 | c.136 others(37): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18509591 | GCGCACAT others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0215 a0001c0001t0001g0216 others(5): Show |
8 | 244 | 0.0328 | -18 | c.135 others(37): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18509593 | GCACATAC others(11): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01891.hp1 HG02630.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(9): Show |
12 | 244 | 0.0492 | -18 | c.135 others(37): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18509598 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 a0001c0001t0002g0093 |
2 | 244 | 0.0082 | -18 | c.135 others(37): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 36859113 | AAGAGAAA others(11): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0012 | 1 | 92 | 0.0109 | -18 | c.198 others(37): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 36953839 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02896.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0072 a0001c0002t0001g0054 |
2 | 92 | 0.0217 | -18 | c.143 others(39): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37188437 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0016 | a0001c0001t0001g0005 a0001c0001t0006g0004 a0001c0001t0016g0060 |
3 | 92 | 0.0326 | -18 | c.108 others(39): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37192968 | GAGATATA others(11): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG02717.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0002t0002g0087 a0001c0002t0003g0038 a0001c0002t0004g0047 others(1): Show |
4 | 92 | 0.0435 | -18 | c.108 others(39): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46369961 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 312 | 0.0032 | -18 | c.188 others(35): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 20/21 | chr20 | TogoVar | |||||||
ELMOD1_chr11_107586147_107671779 | 107590332 | TTCTCTCT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02300.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(2): Show | a0001c0001t0002g0103 a0001c0001t0005g0128 a0001c0001t0005g0135 others(3): Show |
6 | 342 | 0.0175 | -18 | c.-11 others(29): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 814 | chr11 | TogoVar | |||||||
ELMOD2_chr4_140519168_140558770 | 140535137 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(44): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(1): Show | a0001c0001t0002g0057 a0001c0001t0003g0002 a0001c0001t0003g0014 others(19): Show |
47 | 370 | 0.1270 | -18 | c.172 others(33): Show |
ELMOD2 | ENSG00000179387.10 | transcript | ENST00000323570.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ELOA_chr1_23738471_23767059 | 23758247 | ATTTATTT others(11): Show |
A | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 400 | 0.0025 | -18 | c.225 others(37): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELOA_chr1_23738471_23767059 | 23765206 | ATTTTTTT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG01943.hp1 HG02055.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0002t0001others(2): Show | a0001c0001t0002g0101 a0001c0001t0011g0108 a0001c0002t0001g0019 others(2): Show |
5 | 400 | 0.0125 | -18 | c.*56 others(29): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 3148 | chr1 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73973146 | TAGATAAC others(11): Show |
T | upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 404 | 0.0025 | -18 | c.-11 others(29): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 956 | chr8 | TogoVar | |||||||
ELOF1_chr19_11548046_11564230 | 11553582 | TACACACA others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01952.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0045others(1): Show | a0001c0001t0004g0005 a0001c0001t0004g0048 a0001c0001t0004g0112 others(11): Show |
33 | 412 | 0.0801 | -18 | c.*14 others(27): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 4/4 | 146 | chr19 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53319270 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(92): Show |
100 | 320 | 0.3125 | -18 | c.-8- others(35): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084551 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00609.hp2 NA18949.hp2 NA18974.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0031 | a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0013g0266 others(2): Show |
5 | 338 | 0.0148 | -18 | c.221 others(37): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60802061 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02135.hp1 NA18939.hp1 NA18951.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 others(3): Show |
6 | 258 | 0.0233 | -18 | c.-85 others(35): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60802101 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01496.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0014 a0001c0001t0007g0001 a0001c0001t0007g0031 others(2): Show |
6 | 258 | 0.0233 | -18 | c.-85 others(35): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELP1_chr9_108862517_108939124 | 108872804 | GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp2 others(72): Show |
a0001a0034 | a0001c0001a0001c0002a0001c0019others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(7): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0023 others(63): Show |
75 | 416 | 0.1803 | -18 | c.393 others(37): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 36/36 | chr9 | TogoVar | |||||||
ELP2_chr18_36124899_36185557 | 36126648 | GTGCTCTG others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0006 | a0006c0008 | a0006c0008t0015a0006c0008t0029 | a0006c0008t0015g0010 a0006c0008t0015g0048 a0006c0008t0015g0235 others(1): Show |
4 | 378 | 0.0106 | -18 | c.-32 others(29): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 3250 | chr18 | TogoVar | |||||||
ELP3_chr8_28088139_28196153 | 28119572 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0168 others(4): Show |
7 | 398 | 0.0176 | -18 | c.617 others(35): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31599512 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01071.hp1 others(80): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0019 others(80): Show |
83 | 270 | 0.3074 | -18 | c.514 others(35): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31668675 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0218 | 1 | 270 | 0.0037 | -18 | c.114 others(39): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31668704 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02132.hp2 HG02135.hp2 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0004 a0001c0001t0001g0068 a0001c0001t0001g0073 others(2): Show |
5 | 270 | 0.0185 | -18 | c.114 others(39): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | chr11 | TogoVar | |||||||
ELP4_chr11_31504767_31795324 | 31678525 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03540.hp1 NA18970.hp1 |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0055a0001c0002t0045a0005c0006t0032 | a0001c0001t0055g0083 a0001c0002t0045g0245 a0005c0006t0032g0253 |
3 | 270 | 0.0111 | -18 | c.114 others(39): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31706445 | ATATAGTG others(11): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02630.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0053a0001c0001t0063 | a0001c0001t0027g0048 a0001c0001t0027g0050 a0001c0001t0053g0049 others(1): Show |
4 | 270 | 0.0148 | -18 | c.114 others(39): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | chr11 | TogoVar | |||||||
ELP4_chr11_31504767_31795324 | 31794420 | CCACACAC others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02145.hp2 HG02698.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0192 a0001c0001t0004g0078 a0001c0001t0005g0264 others(9): Show |
12 | 270 | 0.0444 | -18 | c.*10 others(31): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 4097 | chr11 | TogoVar | |||||||
ELSPBP1_chr19_47989632_48030154 | 48023206 | AAGGAGGG others(11): Show |
A | intron_variant | MODIFIER | NA18954.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0032 | 1 | 388 | 0.0026 | -18 | c.*7+ others(31): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
EMB_chr5_50391192_50446288 | 50429968 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 346 | 0.0029 | -18 | c.113 others(35): Show |
EMB | ENSG00000170571.12 | transcript | ENST00000303221.10 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50471753 | CATGTGTA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0169 | a0001c0002t0169g0028 | 1 | 352 | 0.0028 | -18 | c.-47 others(29): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 4753 | chr19 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50492039 | GGAGAGAG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(137): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(69): Show | a0001c0001t0001g0064 a0001c0001t0006g0001 a0001c0001t0008g0001 others(85): Show |
140 | 352 | 0.3977 | -18 | c.*97 others(29): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 1169 | chr19 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50493982 | TAGGCAGG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0001 | 1 | 352 | 0.0028 | -18 | c.*11 others(31): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 3112 | chr19 | TogoVar | |||||||
EMCN_chr4_100390341_100523022 | 100431747 | CTGCTCTC others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(129): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0182 others(127): Show |
132 | 262 | 0.5038 | -18 | c.416 others(35): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
EMCN_chr4_100390341_100523022 | 100459168 | GCTCTCTC others(11): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG00738.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0002g0003 a0001c0001t0002g0127 a0001c0001t0002g0129 others(22): Show |
26 | 262 | 0.0992 | -18 | c.376 others(35): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
EMID1_chr22_29200896_29264597 | 29221066 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0162 a0001c0001t0001g0176 a0001c0001t0001g0262 others(31): Show |
35 | 348 | 0.1006 | -18 | c.320 others(35): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2858522 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp1 NA18945.hp2 |
a0002a0004 | a0002c0005a0004c0011 | a0002c0005t0032a0004c0011t0003 | a0002c0005t0032g0231 a0004c0011t0003g0148 |
2 | 452 | 0.0044 | -18 | c.257 others(37): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2858583 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01361.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0294 a0001c0001t0005g0413 |
2 | 452 | 0.0044 | -18 | c.257 others(37): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928197 | GTGGTGGT others(11): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0031 | 1 | 288 | 0.0035 | -18 | c.190 others(37): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42325596 | TTATATTT others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01192.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0181 others(1): Show |
4 | 358 | 0.0112 | -18 | c.224 others(33): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42325602 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(133): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0187 a0001c0001t0002g0216 a0001c0001t0002g0234 others(131): Show |
136 | 358 | 0.3799 | -18 | c.224 others(33): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42326528 | ATTAAATT others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0194 a0001c0001t0021g0336 |
2 | 358 | 0.0056 | -18 | c.234 others(35): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88662339 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0310 a0001c0003t0004g0311 a0001c0003t0004g0312 others(1): Show |
4 | 332 | 0.0121 | -18 | c.349 others(35): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 24/43 | chr14 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54744905 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0002a0001c0012a0001c0030 | a0001c0002t0004a0001c0002t0006a0001c0002t0010others(2): Show | a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0006g0055 others(4): Show |
7 | 264 | 0.0265 | -18 | c.197 others(37): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EMP1_chr12_13191726_13224941 | 13217028 | GAAAGGGG others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0170 | 1 | 444 | 0.0023 | -18 | c.*23 others(29): Show |
EMP1 | ENSG00000134531.10 | transcript | ENST00000256951.10 | protein_coding | 5/5 | 2340 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EMP2_chr16_10523422_10585598 | 10562336 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 402 | 0.0025 | -18 | c.-60 others(37): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
EMP2_chr16_10523422_10585598 | 10581967 | TTGTGTGT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0021 | a0001c0001t0007g0002 a0001c0002t0021g0371 |
2 | 402 | 0.0050 | -18 | c.-14 others(29): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1370 | chr16 | TogoVar | |||||||
EMP3_chr19_48320552_48335553 | 48334414 | CTCTCTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | -18 | c.*39 others(29): Show |
EMP3 | ENSG00000142227.11 | transcript | ENST00000270221.11 | protein_coding | 3862 | chr19 | TogoVar |