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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELOVL4_chr6_79909814_79952553 | 79919110 | A | ACATAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(293): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(187): Show |
296 | 352 | 0.8409 | 7 | c.669 others(22): Show |
ELOVL4 | ENSG00000118402.6 | transcript | ENST00000369816.5 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53324672 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01168.hp1 HG01175.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 others(23): Show |
27 | 187 | 0.1444 | 7 | c.-9+ others(24): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110042850 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02258.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0015others(10): Show | a0001c0001t0006g0013 a0001c0001t0006g0053 a0001c0001t0006g0078 others(23): Show |
26 | 34 | 0.7647 | 7 | c.*84 others(18): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2995 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110061549 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01515.hp1 HG01934.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015 | a0001c0001t0007g0009 a0001c0001t0007g0029 a0001c0001t0007g0082 others(4): Show |
7 | 105 | 0.0667 | 7 | c.222 others(24): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084129 | G | GATATATA | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0030 | a0001c0001t0001g0077 a0001c0001t0001g0217 a0001c0001t0001g0331 others(1): Show |
4 | 225 | 0.0178 | 7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084409 | A | ACATATAT | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01070.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0121 others(17): Show |
20 | 330 | 0.0606 | 7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084426 | C | CATATATG | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0032 | a0001c0001t0017g0153 a0001c0001t0032g0060 a0001c0001t0032g0180 |
3 | 223 | 0.0135 | 7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110090600 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01361.hp2 HG02004.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 others(46): Show |
49 | 211 | 0.2322 | 7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110094443 | A | ATATATAT | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0036 a0001c0001t0001g0096 a0001c0001t0001g0127 others(23): Show |
26 | 209 | 0.1244 | 7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110127406 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0044 others(77): Show |
80 | 133 | 0.6015 | 7 | c.90- others(24): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60845468 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02818.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 others(6): Show |
9 | 60 | 0.1500 | 7 | c.-13 others(18): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1200 | chr5 | TogoVar | |||||||
ELP2_chr18_36124899_36185557 | 36179307 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00621.hp1 others(88): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0003a0002c0002t0003a0002c0002t0007others(21): Show | a0001c0001t0003g0243 a0002c0002t0003g0001 a0002c0002t0003g0004 others(85): Show |
91 | 343 | 0.2653 | 7 | c.*46 others(18): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 22/22 | 4683 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ELSPBP1_chr19_47989632_48030154 | 48006648 | G | GAAAAGAA | intron_variant | MODIFIER | NA18988.hp2 NA18993.hp2 NA19010.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0041 a0001c0001t0001g0357 a0001c0001t0002g0134 others(2): Show |
5 | 310 | 0.0161 | 7 | c.-17 others(24): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EMC3_chr3_9957682_9991841 | 9963477 | A | ATATATTT | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01168.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0046 | a0001c0001t0001g0113 a0001c0001t0003g0016 a0001c0001t0003g0017 others(8): Show |
12 | 189 | 0.0635 | 7 | c.*59 others(16): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 8/8 | 591 | chr3 | TogoVar | ||||||
EMC3_chr3_9957682_9991841 | 9990325 | C | CTCTTTTT | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02818.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0027 a0001c0001t0004g0275 a0001c0001t0004g0276 others(2): Show |
6 | 139 | 0.0432 | 7 | c.-36 others(18): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 3485 | chr3 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34093823 | A | ATTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 HG03139.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0046 a0001c0001t0001g0264 a0001c0001t0001g0295 others(4): Show |
8 | 254 | 0.0315 | 7 | c.356 others(24): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMCN_chr4_100390341_100523022 | 100473365 | G | GTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01123.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0185 others(9): Show |
12 | 169 | 0.0710 | 7 | c.259 others(24): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
EMID1_chr22_29200896_29264597 | 29250733 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0001g0080 others(14): Show |
18 | 36 | 0.5000 | 7 | c.112 others(26): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EMILIN1_chr2_27073615_27091403 | 27087603 | A | ATCAGGTG | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01106.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0045 others(4): Show |
22 | 314 | 0.0701 | 7 | c.*15 others(18): Show |
EMILIN1 | ENSG00000138080.14 | transcript | ENST00000380320.9 | protein_coding | 1201 | chr2 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99847072 | A | AAAATTTT | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00639.hp2 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0005others(22): Show | a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 others(68): Show |
71 | 286 | 0.2483 | 7 | c.68- others(22): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
EML4_chr2_42164353_42337548 | 42221403 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01981.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(1): Show | a0001c0001t0001g0058 a0002c0002t0001g0005 a0002c0002t0001g0006 others(13): Show |
16 | 116 | 0.1379 | 7 | c.26- others(24): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01952.hp2 HG02083.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0001a0003c0003t0002 | a0001c0001t0002g0279 a0002c0002t0001g0046 a0002c0002t0001g0087 others(4): Show |
7 | 53 | 0.1321 | 7 | c.26- others(20): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42265675 | A | AAGCCATT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(195): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(25): Show | a0001c0001t0002g0121 a0001c0001t0002g0186 a0001c0001t0003g0118 others(192): Show |
198 | 354 | 0.5593 | 7 | c.667 others(22): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 6/22 | chr2 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88660748 | A | AAAAAAAG | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(170): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0283 others(167): Show |
173 | 327 | 0.5291 | 7 | c.367 others(24): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 25/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88759685 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00609.hp1 others(59): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0086 others(57): Show |
62 | 151 | 0.4106 | 7 | c.198 others(24): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 1/43 | chr14 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54789532 | A | AAAAAAAG | intron_variant | MODIFIER | HG01167.hp1 HG01433.hp2 HG01943.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0019a0001c0002t0020a0001c0003t0002others(1): Show | a0001c0001t0019g0167 a0001c0001t0019g0168 a0001c0001t0019g0169 others(5): Show |
8 | 261 | 0.0307 | 7 | c.198 others(26): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54797164 | C | CAAAAAAA | intron_variant | MODIFIER | HG01361.hp2 HG03209.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0015a0001c0004t0016a0001c0005t0017others(2): Show | a0001c0003t0015g0109 a0001c0004t0016g0085 a0001c0005t0017g0084 others(2): Show |
5 | 122 | 0.0410 | 7 | c.198 others(26): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54882873 | A | AAAAAAAG | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG02615.hp1 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0016others(5): Show | a0001c0001t0008g0123 a0001c0001t0014g0008 a0001c0001t0014g0009 others(8): Show |
11 | 232 | 0.0474 | 7 | c.243 others(26): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10575237 | C | CTTTTTTT | intron_variant | MODIFIER | HG01071.hp2 HG01257.hp1 HG01993.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(7): Show | a0001c0001t0004g0352 a0001c0001t0006g0144 a0001c0001t0009g0341 others(8): Show |
11 | 13 | 0.8462 | 7 | c.-61 others(24): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
EMSY_chr11_76440018_76558031 | 76523704 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0300 a0001c0002t0001g0052 a0001c0002t0001g0053 others(3): Show |
6 | 186 | 0.0323 | 7 | c.186 others(24): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EMSY_chr11_76440018_76558031 | 76542745 | C | CGTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(113): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0290 a0001c0001t0001g0291 others(112): Show |
116 | 358 | 0.3240 | 7 | c.275 others(24): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EMSY_chr11_76440018_76558031 | 76542758 | T | TTGTTTTG | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0342 a0001c0001t0006g0009 a0001c0001t0006g0010 others(3): Show |
6 | 358 | 0.0168 | 7 | c.275 others(24): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EN1_chr2_118837171_118852648 | 118847726 | G | GGTTTTTT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01168.hp1 HG01169.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0001g0003 a0001c0001t0004g0016 a0001c0001t0011g0043 others(2): Show |
13 | 309 | 0.0421 | 7 | c.-56 others(16): Show |
EN1 | ENSG00000163064.7 | transcript | ENST00000295206.7 | protein_coding | 79 | chr2 | TogoVar | |||||||
ENAH_chr1_225481829_225658123 | 225574900 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG01106.hp2 HG02027.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0018a0001c0001t0019a0001c0001t0026others(12): Show | a0001c0001t0018g0169 a0001c0001t0018g0189 a0001c0001t0019g0063 others(17): Show |
20 | 301 | 0.0664 | 7 | c.6-7 others(20): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENAH_chr1_225481829_225658123 | 225586241 | C | CAAAAAAA | intron_variant | MODIFIER | HG03017.hp2 HG03927.hp2 HG04115.hp2 others(7): Show |
a0001a0002 | a0001c0003a0001c0008a0002c0006 | a0001c0003t0014a0001c0003t0029a0001c0003t0110others(4): Show | a0001c0003t0014g0022 a0001c0003t0014g0025 a0001c0003t0014g0050 others(7): Show |
10 | 118 | 0.0847 | 7 | c.6-1 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENAH_chr1_225481829_225658123 | 225621296 | C | CTTTTTTT | intron_variant | MODIFIER | HG01361.hp1 HG03017.hp2 HG03834.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0014a0001c0003t0029a0001c0003t0107others(1): Show | a0001c0003t0014g0022 a0001c0003t0014g0025 a0001c0003t0014g0049 others(5): Show |
8 | 296 | 0.0270 | 7 | c.5+3 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENDOD1_chr11_95084846_95137645 | 95123588 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02572.hp1 others(8): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0097 others(8): Show |
11 | 75 | 0.1467 | 7 | c.301 others(24): Show |
ENDOD1 | ENSG00000149218.5 | transcript | ENST00000278505.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ENDOG_chr9_128813500_128827676 | 128818108 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01106.hp1 others(17): Show |
a0002a0005 | a0002c0002a0002c0007a0005c0010 | a0002c0002t0001a0002c0007t0001a0005c0010t0001 | a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0028 others(4): Show |
20 | 239 | 0.0837 | 7 | c.-57 others(16): Show |
ENDOG | ENSG00000167136.7 | transcript | ENST00000372642.5 | protein_coding | 391 | chr9 | TogoVar | |||||||
ENG_chr9_127810016_127859658 | 127828019 | C | CAAAAAAA | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0141 a0001c0001t0001g0256 others(8): Show |
12 | 259 | 0.0463 | 7 | c.361 others(24): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
ENG_chr9_127810016_127859658 | 127843756 | T | TATATATA | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01109.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0253 others(6): Show |
9 | 301 | 0.0299 | 7 | c.68- others(20): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
ENO2_chr12_6909580_6928697 | 6924739 | T | TTCTCCTG | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01891.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0009 a0001c0001t0003g0024 a0001c0001t0003g0069 others(7): Show |
30 | 374 | 0.0802 | 7 | c.*19 others(18): Show |
ENO2 | ENSG00000111674.9 | transcript | ENST00000229277.6 | protein_coding | 1043 | chr12 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666891 | A | AGATGAGT | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG02615.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0005a0001c0001t0006a0002c0002t0005others(3): Show | a0001c0001t0005g0288 a0001c0001t0006g0320 a0002c0002t0005g0175 others(4): Show |
7 | 376 | 0.0186 | 7 | c.*74 others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3426 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667280 | G | GTGATGGT | downstream_gene_variant | MODIFIER | HG01168.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0015a0008c0014 | a0001c0001t0001a0001c0001t0002a0002c0015t0002others(1): Show | a0001c0001t0001g0219 a0001c0001t0002g0006 a0001c0001t0002g0117 others(2): Show |
5 | 267 | 0.0187 | 7 | c.*70 others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3037 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 704440 | G | GAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0154 a0001c0001t0002g0087 a0001c0001t0006g0226 others(11): Show |
14 | 140 | 0.1000 | 7 | c.193 others(24): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2/15 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 706815 | A | ATATATAT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00609.hp1 others(81): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0180 a0001c0001t0002g0002 a0001c0001t0002g0006 others(75): Show |
84 | 292 | 0.2877 | 7 | c.85- others(20): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 706815 | A | ATATATTT | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG01516.hp1 others(8): Show |
a0001a0003a0004 | a0001c0001a0001c0013a0003c0004others(2): Show | a0001c0001t0002a0001c0013t0002a0003c0004t0003others(3): Show | a0001c0001t0002g0170 a0001c0001t0002g0199 a0001c0013t0002g0148 others(7): Show |
11 | 219 | 0.0502 | 7 | c.85- others(20): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 706816 | T | TATATATA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(67): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(12): Show | a0001c0001t0001g0059 a0001c0001t0002g0043 a0001c0001t0002g0128 others(65): Show |
70 | 387 | 0.1809 | 7 | c.85- others(20): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 713470 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01884.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(7): Show | a0001c0001t0001g0252 a0001c0001t0006g0226 a0001c0001t0011g0064 others(10): Show |
13 | 119 | 0.1092 | 7 | c.-88 others(16): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 841 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43374230 | T | TTCTTTTA | intron_variant | MODIFIER | HG00738.hp2 HG02080.hp2 HG02602.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0074 others(6): Show |
9 | 186 | 0.0484 | 7 | c.209 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 5/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43417193 | A | AGGGAGAC | intron_variant | MODIFIER | HG01361.hp1 HG02145.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0025others(1): Show | a0001c0001t0003g0021 a0001c0001t0003g0123 a0001c0001t0004g0114 others(4): Show |
7 | 172 | 0.0407 | 7 | c.-74 others(24): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar |