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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF4G3_chr1_20801479_21181897 | 21179929 | T | TATATTAC | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0024 | a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0007g0014 others(2): Show |
5 | 303 | 0.0165 | 7 | c.-36 others(18): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3033 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21180027 | A | ATATTACG | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01884.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 others(4): Show |
7 | 307 | 0.0228 | 7 | c.-37 others(18): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3131 | chr1 | TogoVar | |||||||
EIF5A2_chr3_170883418_170913637 | 170889048 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00733.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0034a0001c0001t0039others(2): Show | a0001c0001t0010g0006 a0001c0001t0010g0074 a0001c0001t0010g0087 others(5): Show |
13 | 16 | 0.8125 | 7 | c.*43 others(18): Show |
EIF5A2 | ENSG00000163577.8 | transcript | ENST00000295822.7 | protein_coding | 5/5 | 4311 | chr3 | TogoVar | ||||||
EIF5A_chr17_7302628_7317463 | 7312109 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00738.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020 | a0001c0001t0006g0001 a0001c0001t0006g0003 a0001c0001t0006g0007 others(4): Show |
41 | 180 | 0.2278 | 7 | c.*31 others(16): Show |
EIF5A | ENSG00000132507.18 | transcript | ENST00000336458.13 | protein_coding | 6/6 | 490 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EIF5A_chr17_7302628_7317463 | 7312129 | T | TTTTTTTA | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0004 a0001c0001t0005g0016 a0001c0001t0005g0031 others(4): Show |
56 | 407 | 0.1376 | 7 | c.*31 others(16): Show |
EIF5A | ENSG00000132507.18 | transcript | ENST00000336458.13 | protein_coding | 6/6 | 490 | chr17 | TogoVar | ||||||
EIF5B_chr2_99332389_99406326 | 99353005 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01175.hp1 others(21): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0005a0002c0001t0019 | a0002c0001t0002g0022 a0002c0001t0002g0197 a0002c0001t0002g0198 others(20): Show |
24 | 40 | 0.6000 | 7 | c.36- others(22): Show |
EIF5B | ENSG00000158417.12 | transcript | ENST00000289371.11 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EIF5_chr14_103329237_103350025 | 103331309 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(200): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0021 others(47): Show |
203 | 350 | 0.5800 | 7 | c.-33 others(18): Show |
EIF5 | ENSG00000100664.11 | transcript | ENST00000216554.8 | protein_coding | 2927 | chr14 | TogoVar | |||||||
EIF5_chr14_103329237_103350025 | 103332905 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0003g0003 a0001c0001t0005g0009 a0001c0001t0006g0005 others(4): Show |
18 | 296 | 0.0608 | 7 | c.-17 others(18): Show |
EIF5 | ENSG00000100664.11 | transcript | ENST00000216554.8 | protein_coding | 1331 | chr14 | TogoVar | |||||||
EIF5_chr14_103329237_103350025 | 103346498 | A | ATATTTTG | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(136): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(25): Show | a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0019 others(41): Show |
139 | 436 | 0.3188 | 7 | c.*54 others(18): Show |
EIF5 | ENSG00000100664.11 | transcript | ENST00000216554.8 | protein_coding | 1474 | chr14 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3199060 | G | GCCCCCCC | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01175.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0033 others(7): Show |
10 | 102 | 0.0980 | 7 | c.517 others(24): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 13009990 | C | CAAAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG01891.hp1 HG02055.hp1 others(8): Show |
a0002 | a0002c0002a0002c0019 | a0002c0002t0006a0002c0002t0027a0002c0019t0031 | a0002c0002t0006g0011 a0002c0002t0006g0020 a0002c0002t0006g0079 others(3): Show |
11 | 315 | 0.0349 | 7 | c.738 others(22): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 8/23 | chr17 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 13022664 | C | CTTTCTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp1 others(84): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0017 others(63): Show |
87 | 237 | 0.3671 | 7 | c.-47 others(18): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 4638 | chr17 | TogoVar | |||||||
ELAPOR1_chr1_109109115_109211781 | 109118900 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0023 others(72): Show |
76 | 182 | 0.4176 | 7 | c.153 others(24): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109138834 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0024a0001c0025others(10): Show | a0001c0001t0001a0001c0024t0001a0001c0025t0037others(12): Show | a0001c0001t0001g0006 a0001c0024t0001g0096 a0001c0025t0037g0102 others(19): Show |
22 | 73 | 0.3014 | 7 | c.154 others(26): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR2_chr7_86871906_87064654 | 86974620 | T | TGTGTGTG | intron_variant | MODIFIER | NA18747.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0019 |
2 | 194 | 0.0103 | 7 | c.190 others(24): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ELAPOR2_chr7_86871906_87064654 | 86993246 | A | AAAAAAAG | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01168.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(22): Show |
25 | 172 | 0.1453 | 7 | c.190 others(26): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23699812 | G | GTTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp2 others(8): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0004a0005c0007t0004 | a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0110 others(8): Show |
11 | 42 | 0.2619 | 7 | c.713 others(24): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23702951 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00735.hp2 others(44): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0073 others(44): Show |
47 | 74 | 0.6351 | 7 | c.488 others(24): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 4/6 | chr9 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23735105 | C | CAAAAAAA | intron_variant | MODIFIER | HG01515.hp2 HG02630.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019 | a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0223 others(4): Show |
7 | 45 | 0.1556 | 7 | c.230 others(24): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
ELAVL3_chr19_11446326_11486046 | 11464167 | A | ATATATAT | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02717.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0003g0055 others(5): Show |
11 | 240 | 0.0458 | 7 | c.333 others(24): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ELAVL3_chr19_11446326_11486046 | 11464168 | T | TATATATA | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0034 | a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0004g0028 others(2): Show |
6 | 287 | 0.0209 | 7 | c.333 others(24): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 40959752 | G | GTATAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(71): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0005c0007others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0003t0001others(4): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(70): Show |
74 | 360 | 0.2056 | 7 | c.73- others(20): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 2/8 | chr13 | TogoVar | |||||||
ELF4_chrX_130058955_130115497 | 130089509 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01070.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(12): Show |
15 | 31 | 0.4839 | 7 | c.-20 others(26): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | |||||||
ELFN2_chr22_37362960_37432479 | 37412277 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0005a0001c0001t0009a0001c0001t0050others(3): Show | a0001c0001t0005g0021 a0001c0001t0005g0155 a0001c0001t0009g0019 others(4): Show |
7 | 190 | 0.0368 | 7 | c.-46 others(26): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 2/2 | chr22 | TogoVar | |||||||
ELK4_chr1_205602943_205637011 | 205604005 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01891.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(2): Show | a0001c0001t0001g0004 a0001c0001t0008g0171 a0001c0001t0017g0107 others(3): Show |
6 | 35 | 0.1714 | 7 | c.*12 others(20): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 3937 | chr1 | TogoVar | |||||||
ELK4_chr1_205602943_205637011 | 205629170 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(71): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(14): Show | a0001c0001t0002g0259 a0001c0001t0007g0138 a0001c0001t0011g0132 others(33): Show |
74 | 143 | 0.5175 | 7 | c.-10 others(24): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95948429 | C | CAAAAAAA | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02723.hp1 others(4): Show |
a0001a0002a0006 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0004a0001c0003t0007a0001c0003t0008others(4): Show | a0001c0003t0004g0041 a0001c0003t0007g0017 a0001c0003t0008g0025 others(4): Show |
7 | 73 | 0.0959 | 7 | c.148 others(24): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442159 | A | ACACACAC | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01167.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0145 a0001c0001t0001g0177 others(18): Show |
21 | 241 | 0.0871 | 7 | c.*25 others(18): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 503 | chr19 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 36899684 | C | CTTTTTTT | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp2 HG03927.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0002g0067 others(1): Show |
4 | 11 | 0.3636 | 7 | c.143 others(26): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37025936 | T | TCTATCTA | intron_variant | MODIFIER | HG02615.hp1 HG03453.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0009 a0001c0001t0005g0011 a0001c0001t0008g0092 |
3 | 88 | 0.0341 | 7 | c.130 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37050660 | A | ACACACAC | intron_variant | MODIFIER | HG02895.hp1 NA19000.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0002 | a0001c0001t0003g0044 a0001c0004t0002g0086 |
2 | 89 | 0.0225 | 7 | c.130 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37124770 | A | AAAAAAGT | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(1): Show | a0001c0001t0001g0090 a0001c0001t0005g0006 a0001c0002t0003g0013 others(1): Show |
4 | 90 | 0.0444 | 7 | c.119 others(26): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 14/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37171481 | C | CTTTTTTT | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 NA18970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0002t0005 | a0001c0001t0001g0005 a0001c0001t0016g0060 a0001c0002t0005g0055 |
3 | 68 | 0.0441 | 7 | c.108 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37188498 | A | ATAATAAT | intron_variant | MODIFIER | NA19000.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0044 a0001c0001t0004g0043 |
2 | 64 | 0.0313 | 7 | c.108 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37188501 | A | AAAATAAT | intron_variant | MODIFIER | HG01192.hp2 HG01934.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0006t0004 | a0001c0001t0001g0009 a0001c0001t0001g0074 a0001c0001t0004g0057 others(1): Show |
4 | 26 | 0.1538 | 7 | c.108 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37188501 | A | ATAATAAT | intron_variant | MODIFIER | HG03098.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0065 a0001c0001t0005g0006 |
2 | 24 | 0.0833 | 7 | c.108 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37293741 | A | ATAATAAT | intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG01243.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0009a0001c0002t0001others(6): Show | a0001c0001t0003g0082 a0001c0001t0009g0056 a0001c0002t0001g0054 others(10): Show |
13 | 87 | 0.1494 | 7 | c.192 others(26): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 4/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37321716 | C | CAAAAAAA | intron_variant | MODIFIER | HG02486.hp2 HG03195.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0017a0001c0002t0003others(1): Show | a0001c0001t0004g0063 a0001c0001t0017g0012 a0001c0002t0003g0077 others(1): Show |
4 | 22 | 0.1818 | 7 | c.79- others(22): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37328383 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp1 HG01358.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0085 a0001c0001t0004g0043 a0001c0001t0004g0046 others(4): Show |
7 | 21 | 0.3333 | 7 | c.79- others(24): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37331333 | C | CTTTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp1 HG01256.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(21): Show |
24 | 30 | 0.8000 | 7 | c.78+ others(24): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37370336 | T | TGAAAAGG | intron_variant | MODIFIER | HG01261.hp1 HG01358.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0012a0001c0002t0001others(2): Show | a0001c0001t0002g0002 a0001c0001t0012g0066 a0001c0002t0001g0081 others(2): Show |
5 | 90 | 0.0556 | 7 | c.-73 others(26): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37449431 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01106.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0040 a0001c0001t0002g0002 a0001c0001t0003g0072 others(16): Show |
19 | 21 | 0.9048 | 7 | c.-83 others(16): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 568 | chr7 | TogoVar | |||||||
ELMOD1_chr11_107586147_107671779 | 107599740 | C | CAAAAAAA | intron_variant | MODIFIER | HG01255.hp2 HG02280.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0010others(1): Show | a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 others(7): Show |
10 | 174 | 0.0575 | 7 | c.-86 others(24): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD3_chr2_85349769_85396748 | 85364826 | T | TATATATA | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0065 |
3 | 325 | 0.0092 | 7 | c.199 others(24): Show |
ELMOD3 | ENSG00000115459.18 | transcript | ENST00000409013.8 | protein_coding | 6/13 | chr2 | TogoVar | |||||||
ELOB_chr16_2766414_2782280 | 2781516 | C | CTCTCTTT | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01884.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0003g0079 others(10): Show |
14 | 378 | 0.0370 | 7 | c.-42 others(18): Show |
ELOB | ENSG00000103363.16 | transcript | ENST00000409906.9 | protein_coding | 4237 | chr16 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73964093 | C | CAAAAAAA | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp1 HG01433.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0058 others(18): Show |
21 | 235 | 0.0894 | 7 | c.-50 others(24): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73975355 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0184 others(6): Show |
9 | 180 | 0.0500 | 7 | c.-33 others(18): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3165 | chr8 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10978306 | T | TATATATA | downstream_gene_variant | MODIFIER | HG03491.hp1 HG03491.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0080 |
3 | 225 | 0.0133 | 7 | c.*54 others(18): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2452 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10994483 | A | AAGAAAAG | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00642.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0260 others(80): Show |
92 | 191 | 0.4817 | 7 | c.505 others(22): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11047636 | T | TATTTATC | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(243): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(22): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0013 others(223): Show |
246 | 378 | 0.6508 | 7 | c.-34 others(18): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 3332 | chr6 | TogoVar |