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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC4_chr7_133248078_134070761 | 133855120 | T | TATATAAA others(21): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0019a0001c0004t0004 | a0001c0001t0019g0085 a0001c0004t0004g0037 |
2 | 98 | 0.0204 | 28 | c.173 others(49): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133857148 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0024 | 1 | 41 | 0.0244 | 28 | c.173 others(49): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133941821 | T | TTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 48 | 0.0208 | 28 | c.220 others(47): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72767808 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0012 | 1 | 11 | 0.0909 | 28 | c.114 others(47): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02056.hp2 HG04228.hp1 others(4): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0077 others(4): Show |
7 | 147 | 0.0476 | 28 | c.248 others(45): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 141 | 0.0071 | 28 | c.248 others(45): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858840 | G | GGAAAGAA others(21): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 185 | 0.0054 | 28 | c.963 others(47): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117973930 | C | CAAGGAAG others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0085 | 1 | 54 | 0.0185 | 28 | c.962 others(49): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTCTCTCT others(21): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 40 | 0.0250 | 28 | c.-26 others(39): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | |||||||
EXT2_chr11_44090678_44256962 | 44119124 | T | TTTTATAT others(21): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18522.hp1 |
a0002 | a0002c0005 | a0002c0005t0019 | a0002c0005t0019g0236 a0002c0005t0019g0239 |
2 | 221 | 0.0090 | 28 | c.743 others(45): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119169 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18942.hp2 NA18987.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004a0001c0002t0017others(1): Show | a0001c0001t0005g0281 a0001c0002t0004g0039 a0001c0002t0017g0034 others(1): Show |
4 | 152 | 0.0263 | 28 | c.743 others(45): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXTL1_chr1_26016775_26041464 | 26027693 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03017.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0034 | 2 | 336 | 0.0060 | 28 | c.780 others(45): Show |
EXTL1 | ENSG00000158008.10 | transcript | ENST00000374280.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71207751 | G | GAAAACAC others(21): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0126 | 1 | 230 | 0.0043 | 28 | c.169 others(47): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 17/17 | chr8 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 46987916 | G | GACACTCT others(21): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0198 | 1 | 142 | 0.0070 | 28 | c.-10 others(45): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 46987916 | G | GACTCACT others(21): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 142 | 0.0070 | 28 | c.-10 others(45): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 46987916 | G | GACTCTCT others(21): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 142 | 0.0070 | 28 | c.-10 others(45): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0171 | 1 | 100 | 0.0100 | 28 | c.-10 others(45): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 100 | 0.0100 | 28 | c.-10 others(45): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0028 | 1 | 100 | 0.0100 | 28 | c.-10 others(45): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 | 1 | 100 | 0.0100 | 28 | c.-10 others(45): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 100 | 0.0100 | 28 | c.-10 others(45): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 100 | 0.0100 | 28 | c.-10 others(45): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47057139 | G | GAGGAAGG others(21): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 79 | 0.0127 | 28 | c.416 others(47): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47148058 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03041.hp2 |
a0004 | a0004c0008a0004c0011 | a0004c0008t0001a0004c0011t0001 | a0004c0008t0001g0147 a0004c0011t0001g0099 |
2 | 197 | 0.0102 | 28 | c.978 others(45): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47182628 | T | TCAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02615.hp2 |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0006c0010t0001 | a0001c0002t0001g0072 a0006c0010t0001g0168 |
2 | 69 | 0.0290 | 28 | c.143 others(45): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 14/15 | chr20 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073103 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0336 | 1 | 346 | 0.0029 | 28 | c.-68 others(47): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 98 | 0.0102 | 28 | c.-68 others(47): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG04204.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0257 a0001c0001t0003g0013 a0001c0001t0003g0014 others(2): Show |
5 | 102 | 0.0490 | 28 | c.-68 others(47): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0022 |
2 | 99 | 0.0202 | 28 | c.-68 others(47): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133273097 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0124 | 1 | 166 | 0.0060 | 28 | c.-65 others(45): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65271128 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0006 | 1 | 6 | 0.1667 | 28 | c.202 others(49): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65338287 | A | AAATTTTA others(21): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 |
a0003a0008 | a0003c0008a0008c0001 | a0003c0008t0002a0008c0001t0001 | a0003c0008t0002g0020 a0008c0001t0001g0013 |
2 | 24 | 0.0833 | 28 | c.160 others(47): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 10/42 | chr6 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148839053 | T | TAAGGAAG others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 30 | 0.0333 | 28 | c.247 others(45): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 3/19 | chr7 | TogoVar | |||||||
EZHIP_chrX_51401948_51413843 | 51409476 | G | GGGGTGTG others(21): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 NA18949.hp2 NA18961.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 7 | 231 | 0.0303 | 28 | c.*94 others(37): Show |
EZHIP | ENSG00000187690.4 | transcript | ENST00000342995.4 | protein_coding | 634 | chrX | TogoVar | |||||||
EZHIP_chrX_51401948_51413843 | 51409476 | G | GGTGTGTG others(21): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 |
7 | 231 | 0.0303 | 28 | c.*94 others(37): Show |
EZHIP | ENSG00000187690.4 | transcript | ENST00000342995.4 | protein_coding | 634 | chrX | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6210324 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG03139.hp2 others(8): Show |
a0001a0003a0014 | a0001c0001a0001c0006a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0002others(3): Show | a0001c0001t0001g0147 a0001c0001t0001g0180 a0001c0001t0001g0234 others(8): Show |
11 | 110 | 0.1000 | 28 | c.111 others(49): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 8/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6238715 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0277 | 1 | 154 | 0.0065 | 28 | c.798 others(45): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 6/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6321373 | C | CTCTTTCT others(21): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 118 | 0.0085 | 28 | c.-80 others(37): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 712 | chr6 | TogoVar | |||||||
F2_chr11_46714213_46744506 | 46721350 | G | GTGGACGA others(21): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0055 | 1 | 348 | 0.0029 | 28 | c.316 others(43): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113105038 | A | AATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0068 | 1 | 367 | 0.0027 | 28 | c.-80 others(37): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 752 | chr13 | TogoVar | |||||||
F8A2_chrX_155377095_155388801 | 155384120 | A | ATTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 22 | 0.0455 | 28 | c.*89 others(37): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 320 | chrX | TogoVar | |||||||
FA2H_chr16_74707969_74779820 | 74741808 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0192 | 1 | 204 | 0.0049 | 28 | c.271 others(45): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
FAAH2_chrX_57281706_57494193 | 57306990 | C | CAGATATA others(21): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0022 |
2 | 273 | 0.0073 | 28 | c.276 others(45): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57306994 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00733.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0002a0003c0005t0001 | a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0041 others(25): Show |
28 | 58 | 0.4828 | 28 | c.276 others(45): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57307016 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 280 | 0.0036 | 28 | c.276 others(45): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FABP7_chr6_122774716_122789074 | 122777845 | A | AAAATAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 NA18949.hp2 NA18957.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0025 others(1): Show |
6 | 103 | 0.0583 | 28 | c.-19 others(39): Show |
FABP7 | ENSG00000164434.12 | transcript | ENST00000368444.8 | protein_coding | 1870 | chr6 | TogoVar | |||||||
FADS2_chr11_61823300_61872354 | 61824433 | A | AGAGAGAG others(21): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 253 | 0.0040 | 28 | c.-39 others(39): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3866 | chr11 | TogoVar | |||||||
FADS2_chr11_61823300_61872354 | 61861353 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18953.hp1 NA19000.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0080 others(1): Show |
4 | 112 | 0.0357 | 28 | c.883 others(45): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50457724 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0006 | 1 | 51 | 0.0196 | 28 | c.187 others(49): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 18/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50554390 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 15 | 0.0667 | 28 | c.126 others(49): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 13/18 | chr1 | TogoVar |