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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FRMD3_chr9_83239622_83543401 | 83479630 | A | AAGAAAGA others(87): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0027 | 1 | 242 | 0.0041 | 94 | c.147 others(113): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
FRMD5_chr15_43865764_44200271 | 43999917 | G | GTATGTGT others(87): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0086 | 1 | 146 | 0.0069 | 94 | c.103 others(113): Show |
FRMD5 | ENSG00000171877.21 | transcript | ENST00000417257.6 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
FRMD5_chr15_43865764_44200271 | 43999967 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049 | 1 | 146 | 0.0069 | 94 | c.103 others(113): Show |
FRMD5 | ENSG00000171877.21 | transcript | ENST00000417257.6 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161438125 | A | AAAAGAAG others(87): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0006g0141 others(3): Show |
6 | 142 | 0.0423 | 94 | c.184 others(115): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161783675 | T | TTCCCTTC others(87): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 142 | 0.0070 | 94 | c.410 others(111): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161783677 | C | CCCTTCCT others(87): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 142 | 0.0070 | 94 | c.410 others(111): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161783677 | C | CCCTTCCT others(87): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0053 | 1 | 142 | 0.0070 | 94 | c.410 others(111): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161783677 | C | CCCTTCCT others(87): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0003 | a0003c0005 | a0003c0005t0009 | a0003c0005t0009g0128 | 1 | 142 | 0.0070 | 94 | c.410 others(111): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161992878 | A | ATGTGTGT others(87): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02451.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0081 a0001c0002t0003g0113 |
2 | 142 | 0.0141 | 94 | c.160 others(113): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 3/15 | chr4 | TogoVar | |||||||
GABRR3_chr3_97980102_98040315 | 97981942 | C | CTACACTT others(87): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 382 | 0.0026 | 94 | c.*47 others(105): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 3159 | chr3 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806758 | A | ACCCTCCC others(87): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0112 | 1 | 314 | 0.0032 | 94 | c.*25 others(105): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2472 | chr2 | TogoVar | |||||||
GAL3ST4_chr7_100154244_100173617 | 100172689 | A | ATATATAT others(87): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 402 | 0.0025 | 94 | c.-43 others(105): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 4073 | chr7 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77259018 | T | TTGGTGGT others(87): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0090a0001c0001t0109 | a0001c0001t0090g0110 a0001c0001t0109g0070 |
2 | 366 | 0.0055 | 94 | c.732 others(111): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259174 | G | GATGGTGG others(87): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01255.hp2 HG01516.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0003g0139 a0001c0001t0005g0336 a0001c0001t0006g0010 others(9): Show |
13 | 366 | 0.0355 | 94 | c.732 others(111): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259174 | G | GATGGTGG others(87): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 366 | 0.0027 | 94 | c.732 others(111): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259174 | G | GATGGTGG others(87): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03688.hp1 HG04115.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0074 | a0001c0001t0003g0112 a0001c0001t0003g0254 a0001c0001t0010g0271 others(1): Show |
4 | 366 | 0.0109 | 94 | c.732 others(111): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259174 | G | GATGGTGG others(87): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0292 | 1 | 366 | 0.0027 | 94 | c.732 others(111): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62473716 | C | CTTAGATG others(87): Show |
intron_variant | MODIFIER | NA19059.hp1 | a0027 | a0027c0026 | a0027c0026t0004 | a0027c0026t0004g0050 | 1 | 382 | 0.0026 | 94 | c.524 others(109): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 763236 | C | CCCCGCCC others(87): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 430 | 0.0023 | 94 | c.*76 others(105): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 3985 | chr11 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81750659 | G | GTATATAT others(87): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0019 | 1 | 304 | 0.0033 | 94 | c.143 others(113): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42182662 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0011 | a0001c0011t0012 | a0001c0011t0012g0155 | 1 | 158 | 0.0063 | 94 | c.125 others(113): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42182683 | C | CATGTGTG others(87): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0040 | 1 | 158 | 0.0063 | 94 | c.125 others(113): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1999970 | T | TTATATAT others(87): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 166 | 0.0060 | 94 | c.346 others(113): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(87): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0079 | 1 | 366 | 0.0027 | 94 | c.*56 others(105): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GOLM2_chr15_44283719_44420758 | 44288418 | G | GAGAGAGA others(87): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0117 | 1 | 150 | 0.0067 | 94 | c.-61 others(103): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 300 | chr15 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55024309 | T | TGCACGCA others(87): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0355 | 1 | 441 | 0.0023 | 94 | c.664 others(109): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55024309 | T | TGCACGCA others(87): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0083 | 1 | 441 | 0.0023 | 94 | c.664 others(109): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
GPALPP1_chr13_44984538_45035305 | 45018970 | C | CATATAAA others(87): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 348 | 0.0029 | 94 | c.706 others(111): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPALPP1_chr13_44984538_45035305 | 45018970 | C | CATATAAA others(87): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0051 a0001c0001t0001g0086 a0001c0001t0001g0179 others(94): Show |
101 | 348 | 0.2902 | 94 | c.706 others(111): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC2_chr7_100164606_100182381 | 100172689 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 400 | 0.0025 | 94 | c.893 others(109): Show |
GPC2 | ENSG00000213420.8 | transcript | ENST00000292377.4 | protein_coding | 5/9 | chr7 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66683361 | T | TATATATG others(87): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 234 | 0.0043 | 94 | c.143 others(111): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPR139_chr16_20023239_20078890 | 20041250 | G | GGAGAGGA others(87): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01975.hp2 HG02145.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0018a0001c0001t0020others(6): Show | a0001c0001t0014g0112 a0001c0001t0018g0051 a0001c0001t0020g0254 others(11): Show |
14 | 364 | 0.0385 | 94 | c.128 others(111): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
GRHL1_chr2_9946693_10007277 | 9998483 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 418 | 0.0024 | 94 | c.167 others(111): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998514 | A | ATATATAC others(87): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0286 |
2 | 418 | 0.0048 | 94 | c.167 others(111): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998514 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 418 | 0.0024 | 94 | c.167 others(111): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998514 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 418 | 0.0024 | 94 | c.167 others(111): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998514 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01106.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0016 a0001c0001t0001g0150 a0001c0001t0001g0248 others(10): Show |
15 | 418 | 0.0359 | 94 | c.167 others(111): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRIA2_chr4_157215728_157371075 | 157248568 | T | TGTGTATA others(87): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 HG03041.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(5): Show |
8 | 216 | 0.0370 | 94 | c.229 others(113): Show |
GRIA2 | ENSG00000120251.22 | transcript | ENST00000264426.14 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRIA2_chr4_157215728_157371075 | 157248568 | T | TGTGTATA others(87): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 a0001c0002t0001g0041 |
2 | 216 | 0.0093 | 94 | c.229 others(113): Show |
GRIA2 | ENSG00000120251.22 | transcript | ENST00000264426.14 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRIA2_chr4_157215728_157371075 | 157248568 | T | TGTGTATA others(87): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp2 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(1): Show |
4 | 216 | 0.0185 | 94 | c.229 others(113): Show |
GRIA2 | ENSG00000120251.22 | transcript | ENST00000264426.14 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRIK4_chr11_120506748_120993906 | 120582072 | G | GCACACCA others(87): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0117 | 1 | 128 | 0.0078 | 94 | c.-15 others(115): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88687571 | A | ATTATATA others(87): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0064 | 1 | 184 | 0.0054 | 94 | c.912 others(113): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GSDMA_chr17_39958004_39982768 | 39965246 | A | AAGGGAGG others(87): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03579.hp2 |
a0003 | a0003c0007 | a0003c0007t0013 | a0003c0007t0013g0031 | 2 | 438 | 0.0046 | 94 | c.-5- others(107): Show |
GSDMA | ENSG00000167914.12 | transcript | ENST00000301659.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323563 | T | TGTGTGTA others(87): Show |
upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 155 | 0.0065 | 94 | c.-47 others(105): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4768 | chrX | TogoVar | |||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 428 | 0.0023 | 94 | c.771 others(111): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0200 | 1 | 428 | 0.0023 | 94 | c.771 others(111): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 | 1 | 428 | 0.0023 | 94 | c.771 others(111): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 428 | 0.0023 | 94 | c.771 others(111): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02970.hp2 HG03688.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 a0001c0002t0001g0151 a0001c0002t0001g0178 others(1): Show |
5 | 428 | 0.0117 | 94 | c.771 others(111): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | HG01993.hp2 HG04204.hp1 NA18956.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 a0001c0002t0001g0188 a0001c0002t0001g0220 |
4 | 428 | 0.0094 | 94 | c.771 others(111): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |