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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC2_chr6_480154_698139 | 602282 | CTGCGAAT others(73): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 272 | 0.0037 | -80 | c.743 others(97): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
EXOC3L4_chr14_103089725_103115559 | 103109609 | TCTCCCTC others(73): Show |
T | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0303 | 1 | 404 | 0.0025 | -80 | c.197 others(97): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72401502 | TATATATA others(73): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0076 | 1 | 104 | 0.0096 | -80 | c.198 others(101): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72401525 | ATATATAT others(73): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02109.hp2 HG02970.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0006a0001c0006t0010 | a0001c0005t0006g0078 a0001c0005t0006g0079 a0001c0006t0010g0008 |
3 | 104 | 0.0289 | -80 | c.198 others(101): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133502724 | TGCCCCAG others(73): Show |
T | intron_variant | MODIFIER | NA18982.hp1 NA18989.hp1 NA18994.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0098 a0001c0001t0002g0159 others(2): Show |
5 | 264 | 0.0189 | -80 | c.119 others(99): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158803574 | TATATATA others(73): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp1 HG01071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011 | a0001c0001t0002g0205 a0001c0001t0002g0217 a0001c0001t0002g0287 others(3): Show |
6 | 312 | 0.0192 | -80 | c.13- others(97): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
FAM167B_chr1_32242222_32253856 | 32244992 | CTGACCTC others(73): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001 | 1 | 378 | 0.0027 | -80 | c.-24 others(91): Show |
FAM167B | ENSG00000183615.6 | transcript | ENST00000373582.4 | protein_coding | 2229 | chr1 | TogoVar | |||||||
FAM89A_chr1_231013958_231045254 | 231039810 | CCGAAAGG others(73): Show |
C | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 450 | 0.0022 | -80 | c.291 others(94): Show |
FAM89A | ENSG00000182118.8 | transcript | ENST00000366654.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAN1_chr15_30898915_30948108 | 30929717 | TATATATA others(73): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(112): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(6): Show | a0001c0001t0001g0022 a0001c0001t0001g0117 a0001c0001t0001g0118 others(80): Show |
115 | 303 | 0.3795 | -80 | c.278 others(97): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FANCM_chr14_45130930_45205890 | 45177140 | TAGATTTA others(73): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG02257.hp2 others(3): Show |
a0002a0022a0024 | a0002c0003a0022c0030a0024c0024 | a0002c0003t0001a0022c0030t0001a0024c0024t0001 | a0002c0003t0001g0167 a0002c0003t0001g0169 a0002c0003t0001g0170 others(3): Show |
6 | 238 | 0.0252 | -80 | c.422 others(97): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132563750 | CCCCCTGC others(73): Show |
C | intron_variant | MODIFIER | NA19068.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0226 | 1 | 348 | 0.0029 | -80 | c.646 others(97): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBXO11_chr2_47801920_47911498 | 47900560 | ATATATAC others(73): Show |
A | intron_variant | MODIFIER | HG01074.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 a0001c0001t0002g0273 |
2 | 318 | 0.0063 | -80 | c.232 others(97): Show |
FBXO11 | ENSG00000138081.22 | transcript | ENST00000403359.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
FER1L5_chr2_96637764_96709883 | 96659350 | CTTCCTTC others(73): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0218 | 1 | 226 | 0.0044 | -80 | c.748 others(95): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FGF22_chr19_634879_649373 | 642360 | ATGGGGTG others(73): Show |
A | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 434 | 0.0023 | -80 | c.215 others(95): Show |
FGF22 | ENSG00000070388.12 | transcript | ENST00000215530.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FGF22_chr19_634879_649373 | 642524 | ATGGGGTG others(73): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0063 | 1 | 434 | 0.0023 | -80 | c.215 others(95): Show |
FGF22 | ENSG00000070388.12 | transcript | ENST00000215530.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180635310 | GTGGATGG others(73): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03471.hp2 |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0314 a0002c0003t0007g0315 |
2 | 388 | 0.0052 | -80 | c.59- others(95): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32949956 | TATATATA others(73): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp2 NA19043.hp2 |
a0001a0016 | a0001c0002a0001c0014a0016c0020 | a0001c0002t0013a0001c0014t0051a0016c0020t0003 | a0001c0002t0013g0112 a0001c0014t0051g0178 a0016c0020t0003g0118 |
3 | 196 | 0.0153 | -80 | c.313 others(101): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 9/20 | chr15 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240365148 | TATATACA others(73): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03453.hp1 HG03486.hp1 others(1): Show |
a0002a0005a0006others(1): Show | a0002c0009a0005c0033a0006c0103others(1): Show | a0002c0009t0001a0005c0033t0007a0006c0103t0001others(1): Show | a0002c0009t0001g0072 a0005c0033t0007g0024 a0006c0103t0001g0109 others(1): Show |
4 | 174 | 0.0230 | -80 | c.485 others(99): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FN3KRP_chr17_82711706_82733013 | 82716513 | ACCCAATC others(73): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(69): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0046 others(27): Show |
72 | 426 | 0.1690 | -80 | c.-24 others(89): Show |
FN3KRP | ENSG00000141560.15 | transcript | ENST00000269373.11 | protein_coding | 192 | chr17 | TogoVar | |||||||
FNDC11_chr20_63549159_63561695 | 63559646 | AGGGTCAG others(73): Show |
A | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 416 | 0.0024 | -80 | c.*30 others(91): Show |
FNDC11 | ENSG00000125531.7 | transcript | ENST00000370097.2 | protein_coding | 2952 | chr20 | TogoVar | |||||||
FRAS1_chr4_78052323_78549269 | 78547846 | AAAGTGAG others(73): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp1 HG03041.hp2 HG06807.hp2 |
a0058a0074a0089 | a0058c0117a0074c0059a0089c0101 | a0058c0117t0020a0074c0059t0041a0089c0101t0020 | a0058c0117t0020g0002 a0074c0059t0041g0046 a0089c0101t0020g0099 |
3 | 178 | 0.0169 | -80 | c.*67 others(91): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 3578 | chr4 | TogoVar | |||||||
FRK_chr6_115926149_116065891 | 115958634 | GGAAAGAA others(73): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(25): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0026others(8): Show | a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0147 others(25): Show |
28 | 274 | 0.1022 | -80 | c.800 others(97): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
FRMD1_chr6_168048095_168084212 | 168070195 | GGAAGGAA others(73): Show |
G | intron_variant | MODIFIER | HG02896.hp1 NA18906.hp2 NA19070.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0046a0001c0002t0002 | a0001c0001t0046g0139 a0001c0002t0002g0048 |
3 | 402 | 0.0075 | -80 | c.305 others(97): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49127815 | TTCTTCTT others(73): Show |
T | intron_variant | MODIFIER | HG00438.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 a0001c0001t0001g0318 |
2 | 350 | 0.0057 | -80 | c.152 others(99): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71701799 | GTGTGTAT others(73): Show |
G | intron_variant | MODIFIER | HG03490.hp1 HG03669.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0042 a0001c0001t0003g0003 a0001c0001t0005g0054 |
3 | 76 | 0.0395 | -80 | c.150 others(99): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132193014 | GCTCTGCG others(73): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0047 | 1 | 183 | 0.0055 | -80 | c.*40 others(91): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 3357 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132212158 | ACGACACG others(73): Show |
A | intron_variant | MODIFIER | NA18999.hp2 NA19070.hp1 |
a0001 | a0001c0011a0001c0013 | a0001c0011t0001a0001c0013t0004 | a0001c0011t0001g0116 a0001c0013t0004g0036 |
2 | 183 | 0.0109 | -80 | c.107 others(99): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132212720 | CGACACGG others(73): Show |
C | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 183 | 0.0055 | -80 | c.107 others(99): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132213033 | GAGACCTC others(73): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01978.hp1 HG02683.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0150 a0001c0005t0001g0008 a0001c0007t0001g0159 others(2): Show |
5 | 183 | 0.0273 | -80 | c.107 others(99): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132213141 | GTCTGCAG others(73): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(9): Show |
a0001a0005 | a0001c0007a0001c0011a0001c0013others(4): Show | a0001c0007t0001a0001c0011t0001a0001c0013t0004others(4): Show | a0001c0007t0001g0104 a0001c0011t0001g0057 a0001c0011t0001g0065 others(9): Show |
12 | 183 | 0.0656 | -80 | c.107 others(99): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132303385 | GCACAGCC others(73): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp1 HG01167.hp2 others(29): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0013others(9): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 others(29): Show |
32 | 183 | 0.1749 | -80 | c.239 others(99): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132303430 | CGGGCACA others(73): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 183 | 0.0055 | -80 | c.239 others(99): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132303833 | GCACACCC others(73): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01943.hp1 |
a0001a0002 | a0001c0031a0002c0032 | a0001c0031t0001a0002c0032t0002 | a0001c0031t0001g0038 a0002c0032t0002g0167 |
2 | 183 | 0.0109 | -80 | c.239 others(99): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132304553 | ACACACCC others(73): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG01106.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0150 others(26): Show |
29 | 183 | 0.1585 | -80 | c.239 others(99): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132304861 | AGAATCGC others(73): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 183 | 0.0055 | -80 | c.239 others(99): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132304877 | ACCCTCAC others(73): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0151 others(8): Show |
11 | 183 | 0.0601 | -80 | c.239 others(99): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 172177765 | ATATGTAC others(73): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 | 1 | 40 | 0.0250 | -80 | c.139 others(99): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10037423 | GTTTTAGG others(73): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02056.hp1 NA18951.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0002g0057 others(4): Show |
7 | 218 | 0.0321 | -80 | c.184 others(99): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477165 | TCTCGGAG others(73): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02886.hp2 HG02922.hp1 |
a0001a0004 | a0001c0003a0004c0010 | a0001c0003t0001a0004c0010t0001 | a0001c0003t0001g0188 a0004c0010t0001g0018 |
3 | 382 | 0.0079 | -80 | c.-13 others(91): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1171 | chr20 | TogoVar | |||||||
GCM1_chr6_53121961_53153841 | 53151642 | TCCCAAGC others(73): Show |
T | upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 412 | 0.0024 | -80 | c.-31 others(91): Show |
GCM1 | ENSG00000137270.11 | transcript | ENST00000259803.8 | protein_coding | 2802 | chr6 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180296875 | ACACACAA others(73): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01074.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0005others(5): Show | a0001c0001t0001g0191 a0001c0004t0001g0010 a0001c0004t0001g0179 others(9): Show |
13 | 412 | 0.0316 | -80 | c.*46 others(91): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3822 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180312124 | GGGGAGGC others(73): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG00673.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0054 others(44): Show |
49 | 412 | 0.1189 | -80 | c.154 others(97): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 15/18 | chr5 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53502247 | GGAAGAGA others(73): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp1 NA19043.hp2 |
a0006a0011 | a0006c0007a0011c0040 | a0006c0007t0006a0011c0040t0002 | a0006c0007t0006g0037 a0011c0040t0002g0078 |
2 | 236 | 0.0085 | -80 | c.*42 others(91): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 3991 | chr1 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53502312 | AGGAAGGA others(73): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(29): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0006others(13): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(18): Show | a0001c0001t0002g0104 a0001c0001t0002g0123 a0001c0001t0002g0129 others(29): Show |
32 | 236 | 0.1356 | -80 | c.*42 others(91): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 3926 | chr1 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53502316 | AGGAGAGG others(73): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01109.hp2 others(67): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0002c0002others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(38): Show | a0001c0001t0002g0113 a0001c0001t0002g0133 a0001c0001t0002g0144 others(67): Show |
70 | 236 | 0.2966 | -80 | c.*42 others(91): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 3922 | chr1 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2200823 | GATGTAAC others(73): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 166 | 0.0060 | -80 | c.102 others(99): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2202190 | TAACCATC others(73): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 166 | 0.0060 | -80 | c.102 others(99): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
GNAT3_chr7_80453635_80517064 | 80497595 | TATATACA others(73): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02559.hp1 others(13): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0002t0002a0005c0007t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(9): Show |
16 | 334 | 0.0479 | -80 | c.119 others(97): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
GNG12_chr1_67696475_67838467 | 67709912 | TTATATAT others(73): Show |
T | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 274 | 0.0037 | -80 | c.-26 others(97): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132793007 | GCACGGGA others(73): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG03209.hp2 |
a0005 | a0005c0006 | a0005c0006t0043a0005c0006t0044a0005c0006t0081 | a0005c0006t0043g0004 a0005c0006t0044g0005 a0005c0006t0081g0308 |
3 | 308 | 0.0097 | -80 | c.247 others(99): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 11/23 | chr12 | TogoVar |