regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXT1_chr8_117789490_118116826 | 117899974 | GCAAAATG others(2): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0001t0064a0001c0006t0004 | a0001c0001t0006g0126a0001c0001t0064g0177a0001c0006t0004g0020 | 3 | 190 | 0.0158 | -9 | c.963 others(28): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44097764 | ATAAATAA others(2): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG04204.hp2 NA18945.hp1 others(10): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0003g0301a0001c0001t0008g0002a0001c0001t0008g0243others(9): Show | 13 | 334 | 0.0389 | -9 | c.-31 others(26): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 1/13 | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44170848 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG02615.hp1 NA18972.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0012a0001c0002t0004 | a0001c0001t0008g0245a0001c0001t0012g0005a0001c0002t0004g0056 | 3 | 334 | 0.0090 | -9 | c.117 others(26): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EXT2_chr11_44090678_44256962 | 44215865 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp2 HG01109.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(9): Show | a0001c0001t0003g0192a0001c0001t0003g0207a0001c0001t0003g0227others(47): Show | 51 | 334 | 0.1527 | -9 | c.166 others(28): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EXTL3_chr8_28696501_28760599 | 28709497 | CCTCCTGT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0059 | a0001c0001t0020g0305a0001c0001t0020g0306a0001c0001t0020g0313others(1): Show | 4 | 380 | 0.0105 | -9 | c.-56 others(28): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 46908870 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02129.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0037a0001c0001t0002g0038a0001c0001t0002g0210others(6): Show | 9 | 238 | 0.0378 | -9 | c.-11 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47121075 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02451.hp1 HG02572.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0094a0001c0001t0001g0139others(11): Show | 14 | 238 | 0.0588 | -9 | c.889 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47186348 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01361.hp1 HG01884.hp2 others(23): Show |
a0001 | a0001c0002a0001c0004a0001c0009 | a0001c0002t0001a0001c0004t0001a0001c0009t0001 | a0001c0002t0001g0003a0001c0002t0001g0063a0001c0002t0001g0064others(23): Show | 26 | 238 | 0.1092 | -9 | c.153 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA3_chr1_27965344_28093610 | 28003270 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0229a0001c0001t0002g0275a0001c0001t0002g0276others(65): Show | 68 | 392 | 0.1735 | -9 | c.993 others(26): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 11/17 | chr1 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133332711 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00642.hp2 others(83): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0019a0001c0001t0001g0057a0001c0001t0001g0058others(83): Show | 86 | 264 | 0.3258 | -9 | c.34- others(26): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133483698 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02451.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0012a0001c0001t0013others(5): Show | a0001c0001t0004g0049a0001c0001t0004g0133a0001c0001t0004g0134others(11): Show | 14 | 264 | 0.0530 | -9 | c.119 others(26): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 63723788 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG02451.hp2 HG02630.hp2 others(4): Show |
a0002a0004a0005others(3): Show | a0002c0008a0002c0021a0004c0017others(4): Show | a0002c0008t0002a0002c0021t0001a0004c0017t0001others(4): Show | a0002c0008t0002g0020a0002c0021t0001g0008a0004c0017t0001g0002others(4): Show | 7 | 24 | 0.2917 | -9 | c.823 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 42/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 63859075 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG03209.hp1 |
a0005a0013a0018 | a0005c0010a0013c0020a0018c0016 | a0005c0010t0001a0013c0020t0002a0018c0016t0001 | a0005c0010t0001g0015a0013c0020t0002g0022a0018c0016t0001g0003 | 3 | 24 | 0.1250 | -9 | c.722 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 36/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 63902771 | ATATTGAC others(2): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG03195.hp2 |
a0001a0004a0019 | a0001c0009a0004c0017a0019c0023 | a0001c0009t0001a0004c0017t0001a0019c0023t0001 | a0001c0009t0001g0012a0004c0017t0001g0002a0019c0023t0001g0010 | 3 | 24 | 0.1250 | -9 | c.705 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 35/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64470565 | CACATAAA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02809.hp1 others(7): Show |
a0001a0002a0004others(6): Show | a0001c0009a0002c0008a0002c0021others(7): Show | a0001c0009t0001a0002c0008t0002a0002c0021t0001others(7): Show | a0001c0009t0001g0012a0002c0008t0002g0020a0002c0021t0001g0008others(7): Show | 10 | 24 | 0.4167 | -9 | c.564 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64670438 | TAAATAAA others(2): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02809.hp1 others(2): Show |
a0002a0003a0015others(1): Show | a0002c0008a0002c0021a0003c0002others(2): Show | a0002c0008t0002a0002c0021t0001a0003c0002t0002others(2): Show | a0002c0008t0002g0020a0002c0021t0001g0008a0003c0002t0002g0019others(2): Show | 5 | 24 | 0.2083 | -9 | c.344 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65369298 | TTATGTAT others(2): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02886.hp2 |
a0001a0020 | a0001c0009a0020c0015 | a0001c0009t0001a0020c0015t0002 | a0001c0009t0001g0012a0020c0015t0002g0023 | 2 | 24 | 0.0833 | -9 | c.129 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 8/42 | chr6 | TogoVar | ||||||
EZH1_chr17_42695275_42750040 | 42711890 | AGCAGCAG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(218): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(194): Show | 221 | 334 | 0.6617 | -9 | c.140 others(26): Show |
EZH1 | ENSG00000108799.13 | transcript | ENST00000428826.7 | protein_coding | 12/20 | chr17 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148859505 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG02056.hp1 NA18953.hp1 NA18954.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0198a0001c0001t0002g0206others(4): Show | 7 | 380 | 0.0184 | -9 | c.-7- others(26): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113140073 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0001 | a0001c0004t0001g0291a0001c0004t0001g0292a0001c0004t0001g0293others(4): Show | 7 | 412 | 0.0170 | -9 | c.370 others(24): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
F11R_chr1_160990211_161026152 | 161005167 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02145.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0031 | a0001c0001t0006g0029a0001c0001t0006g0248a0001c0001t0006g0249others(5): Show | 9 | 392 | 0.0230 | -9 | c.65- others(24): Show |
F11R | ENSG00000158769.19 | transcript | ENST00000368026.11 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
F11_chr4_186261189_186294681 | 186280856 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01515.hp1 HG01517.hp1 others(22): Show |
a0001a0002a0004 | a0001c0005a0002c0007a0004c0019 | a0001c0005t0002a0001c0005t0011a0001c0005t0015others(2): Show | a0001c0005t0002g0011a0001c0005t0002g0015a0001c0005t0002g0041others(13): Show | 25 | 456 | 0.0548 | -9 | c.113 others(26): Show |
F11 | ENSG00000088926.15 | transcript | ENST00000403665.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
F11_chr4_186261189_186294681 | 186292800 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp1 others(82): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0017a0001c0003t0004others(5): Show | a0001c0001t0003g0010a0001c0001t0003g0013a0001c0001t0003g0037others(46): Show | 85 | 456 | 0.1864 | -9 | c.*41 others(20): Show |
F11 | ENSG00000088926.15 | transcript | ENST00000403665.7 | protein_coding | 3120 | chr4 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6173404 | CTTTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(135): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0009others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0008a0001c0001t0001g0059a0001c0001t0001g0065others(135): Show | 138 | 292 | 0.4726 | -9 | c.174 others(28): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 12/14 | chr6 | TogoVar | ||||||
F8A1_chrX_154881355_154893061 | 154888399 | TTTTTTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02630.hp1 HG03654.hp1 NA18982.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000a0001c0002t0001g0000 | 3 | 325 | 0.0092 | -9 | c.*91 others(18): Show |
F8A1 | ENSG00000288722.1 | transcript | ENST00000610495.2 | protein_coding | 339 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154888399 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG03654.hp1 NA18982.hp1 |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0002a0003c0004t0002 | a0001c0003t0002g0131a0001c0003t0002g0141a0003c0004t0002g0225 | 3 | 233 | 0.0129 | -9 | c.642 others(28): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 22/25 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154919465 | AAGTAGCA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00733.hp1 others(39): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0003t0002a0001c0003t0006others(1): Show | a0001c0001t0002g0132a0001c0001t0002g0136a0001c0001t0002g0148others(39): Show | 42 | 233 | 0.1803 | -9 | c.521 others(28): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 14/25 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154972699 | CTGTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG02809.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0129a0002c0002t0002g0130a0002c0002t0004g0022others(2): Show | 5 | 233 | 0.0215 | -9 | c.788 others(26): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 6/25 | chrX | TogoVar | ||||||
FA2H_chr16_74707969_74779820 | 74740620 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0091a0001c0001t0001g0101a0001c0001t0001g0102others(88): Show | 94 | 388 | 0.2423 | -9 | c.271 others(24): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
FA2H_chr16_74707969_74779820 | 74741830 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00609.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0027a0001c0001t0001g0040others(26): Show | 30 | 388 | 0.0773 | -9 | c.271 others(26): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57288338 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | 282 | 0.0071 | -9 | c.192 others(26): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57301607 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(231): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(230): Show | 234 | 282 | 0.8298 | -9 | c.276 others(26): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57320353 | GTGAAGGA others(2): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0104 | 1 | 282 | 0.0036 | -9 | c.412 others(26): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57347604 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG01175.hp1 HG01346.hp1 others(19): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0004 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(19): Show | 22 | 282 | 0.0780 | -9 | c.742 others(26): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAP100_chr17_81534891_81557353 | 81542166 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 NA18747.hp2 NA18959.hp2 others(6): Show |
a0002a0016 | a0002c0002a0016c0025 | a0002c0002t0002a0016c0025t0002 | a0002c0002t0002g0014a0002c0002t0002g0023a0002c0002t0002g0081others(1): Show | 9 | 436 | 0.0206 | -9 | c.242 others(26): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
FADS1_chr11_61794627_61822003 | 61799115 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG01192.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0013others(4): Show | 16 | 272 | 0.0588 | -9 | c.*32 others(20): Show |
FADS1 | ENSG00000149485.19 | transcript | ENST00000350997.12 | protein_coding | 511 | chr11 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61824493 | AGAAAGAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01516.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0030a0001c0001t0001g0189others(2): Show | 6 | 280 | 0.0214 | -9 | c.-38 others(20): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3806 | chr11 | TogoVar | ||||||
FADS3_chr11_61868526_61896545 | 61875379 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp2 HG01256.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0021others(27): Show | 48 | 418 | 0.1148 | -9 | c.128 others(26): Show |
FADS3 | ENSG00000221968.9 | transcript | ENST00000278829.7 | protein_coding | 11/11 | chr11 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50497540 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0013a0001c0001t0031 | a0001c0001t0010g0179a0001c0001t0010g0182a0001c0001t0010g0183others(3): Show | 6 | 190 | 0.0316 | -9 | c.149 others(28): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 15/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50689681 | GAAGTAAC others(2): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01993.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0108a0001c0001t0014g0134a0001c0001t0014g0185 | 3 | 190 | 0.0158 | -9 | c.657 others(28): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 7/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50743501 | CATTTTTA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00673.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0016others(2): Show | a0001c0001t0003g0017a0001c0001t0003g0018a0001c0001t0003g0021others(24): Show | 27 | 190 | 0.1421 | -9 | c.459 others(26): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 5/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50939617 | TGGACCCA others(2): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01256.hp2 HG01258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(4): Show | a0001c0001t0001g0189a0001c0001t0009g0186a0001c0001t0009g0187others(10): Show | 13 | 190 | 0.0684 | -9 | c.45+ others(26): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
FAF2_chr5_176443385_176515074 | 176451892 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0001t0004g0277others(20): Show | 23 | 372 | 0.0618 | -9 | c.63+ others(24): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAF2_chr5_176443385_176515074 | 176454577 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01070.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0007a0001c0001t0004g0008a0001c0001t0004g0010others(6): Show | 10 | 372 | 0.0269 | -9 | c.63+ others(24): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAH_chr15_80147999_80191349 | 80148848 | TGTGTGTG others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03516.hp2 others(3): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0003a0001c0018t0003 | a0001c0001t0001g0047a0001c0001t0001g0196a0001c0001t0001g0197others(2): Show | 6 | 428 | 0.0140 | -9 | c.-42 others(20): Show |
FAH | ENSG00000103876.14 | transcript | ENST00000561421.6 | protein_coding | 4150 | chr15 | TogoVar | ||||||
FAIM2_chr12_49861896_49908900 | 49905235 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0015others(54): Show | 68 | 436 | 0.1560 | -9 | c.-14 others(20): Show |
FAIM2 | ENSG00000135472.9 | transcript | ENST00000320634.8 | protein_coding | 1336 | chr12 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14629371 | TTAATATA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(70): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0026a0001c0001t0001g0037a0001c0001t0001g0050others(70): Show | 73 | 272 | 0.2684 | -9 | c.469 others(28): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14699046 | AGGCAGAG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(46): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0001g0041others(46): Show | 49 | 272 | 0.1802 | -9 | c.412 others(28): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14718375 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0002g0004others(5): Show | 8 | 272 | 0.0294 | -9 | c.412 others(28): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14770975 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(21): Show | 24 | 272 | 0.0882 | -9 | c.411 others(26): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar |