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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FEM1B_chr15_68272745_68300862 | 68274646 | CCAGGTGG others(47): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 312 | 0.0032 | -54 | c.-37 others(65): Show |
FEM1B | ENSG00000169018.6 | transcript | ENST00000306917.5 | protein_coding | 3098 | chr15 | TogoVar | |||||||
FGF14_chr13_101705804_101921945 | 101850485 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01993.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0023others(6): Show | a0001c0001t0001g0016 a0001c0001t0019g0227 a0001c0001t0023g0157 others(8): Show |
11 | 266 | 0.0414 | -54 | c.408 others(73): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
FGFR4_chr5_177081915_177103144 | 177096928 | CCTCTTCC others(47): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02486.hp1 others(4): Show |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0008 a0004c0003t0001g0211 |
7 | 372 | 0.0188 | -54 | c.215 others(71): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36763365 | CAATATGC others(47): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0156 | 1 | 168 | 0.0060 | -54 | c.462 others(73): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36763478 | TTGTATTA others(47): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp1 HG02897.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0059 a0002c0002t0001g0135 a0003c0004t0001g0054 others(6): Show |
9 | 168 | 0.0536 | -54 | c.462 others(73): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FLNA_chrX_154343531_154379634 | 154377761 | GGAGGCTG others(47): Show |
G | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 279 | 0.0036 | -54 | c.-34 others(65): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 3128 | chrX | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32777483 | TATTTATA others(47): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0050 | a0050c0036 | a0050c0036t0047 | a0050c0036t0047g0079 | 1 | 196 | 0.0051 | -54 | c.413 others(71): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32778137 | GTATAATA others(47): Show |
G | intron_variant | MODIFIER | HG03688.hp2 homoSapiens_chm13v2.hp1 |
a0015a0017 | a0015c0025a0017c0094 | a0015c0025t0002a0017c0094t0002 | a0015c0025t0002g0093 a0017c0094t0002g0074 |
2 | 196 | 0.0102 | -54 | c.413 others(73): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
FNIP1_chr5_131636714_131802017 | 131785049 | CTATATAT others(47): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0313 | 1 | 328 | 0.0031 | -54 | c.92+ others(71): Show |
FNIP1 | ENSG00000217128.13 | transcript | ENST00000510461.6 | protein_coding | 1/17 | chr5 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89360732 | ACCTCCAG others(47): Show |
A | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0115 | 1 | 230 | 0.0044 | -54 | c.544 others(71): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89360937 | CCACCACC others(47): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 230 | 0.0044 | -54 | c.544 others(73): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361176 | ACCTCCAC others(47): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0091a0001c0001t0093 | a0001c0001t0091g0129 a0001c0001t0093g0115 |
2 | 230 | 0.0087 | -54 | c.544 others(73): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361195 | CCAGCACC others(47): Show |
C | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 230 | 0.0044 | -54 | c.544 others(73): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361203 | ACCACCAC others(47): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0037 | 1 | 230 | 0.0044 | -54 | c.544 others(73): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361329 | TCCACCAC others(47): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0222 | 1 | 230 | 0.0044 | -54 | c.544 others(73): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361552 | ACCTCCAC others(47): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0127 | 1 | 230 | 0.0044 | -54 | c.544 others(73): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89362314 | AGCACCAC others(47): Show |
A | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0151 | 1 | 230 | 0.0044 | -54 | c.544 others(73): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FRMD1_chr6_168048095_168084212 | 168078580 | CTGCTCAC others(47): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG01099.hp2 others(11): Show |
a0001a0002 | a0001c0007a0001c0010a0002c0003 | a0001c0007t0008a0001c0007t0025a0001c0007t0061others(3): Show | a0001c0007t0008g0015 a0001c0007t0008g0232 a0001c0007t0008g0233 others(8): Show |
14 | 402 | 0.0348 | -54 | c.213 others(69): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
FRMPD3_chrX_107444652_107610251 | 107601468 | CAGCCCCA others(47): Show |
C | disruptive_inframe_deletion | MODERATE | NA19043.hp1 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0014 | 1 | 183 | 0.0055 | -54 | c.344 others(63): Show |
p.Pro others(15): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 15/15 | 3805/7573 | 3444/5334 | 1148/1777 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
FSCN2_chr17_81523377_81542130 | 81530580 | GTCCTTCC others(47): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 432 | 0.0023 | -54 | c.826 others(71): Show |
FSCN2 | ENSG00000186765.12 | transcript | ENST00000417245.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FSTL5_chr4_161378897_162169000 | 161779759 | TTATATAT others(47): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0100 | 1 | 142 | 0.0070 | -54 | c.410 others(71): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FUNDC1_chrX_44518639_44547859 | 44531261 | CACACACA others(47): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG03491.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0215 a0001c0001t0001g0216 |
3 | 313 | 0.0096 | -54 | c.262 others(71): Show |
FUNDC1 | ENSG00000069509.6 | transcript | ENST00000378045.5 | protein_coding | 3/4 | chrX | TogoVar | |||||||
FUT10_chr8_33365824_33478146 | 33380163 | CTATATAT others(47): Show |
C | intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 268 | 0.0037 | -54 | c.121 others(73): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
FUT8_chr14_65407730_65749121 | 65611184 | TACACACA others(47): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG01167.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0024a0001c0002t0001 | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0030 others(7): Show |
10 | 374 | 0.0267 | -54 | c.204 others(71): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65611209 | GCGCGCGC others(47): Show |
G | intron_variant | MODIFIER | HG00673.hp2 NA19002.hp2 NA19082.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0101 a0001c0001t0001g0133 a0003c0005t0001g0168 |
3 | 374 | 0.0080 | -54 | c.204 others(71): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65611211 | GCGCGCGC others(47): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG02630.hp1 HG02723.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0010 | a0001c0001t0001a0002c0004t0001a0004c0010t0001 | a0001c0001t0001g0145 a0001c0001t0001g0368 a0001c0001t0001g0372 others(3): Show |
6 | 374 | 0.0160 | -54 | c.204 others(71): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FZD10_chr12_130157464_130170740 | 130157738 | TATATACA others(47): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02109.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 6 | 450 | 0.0133 | -54 | c.-52 others(65): Show |
FZD10 | ENSG00000111432.5 | transcript | ENST00000229030.5 | protein_coding | 4725 | chr12 | TogoVar | |||||||
FZD4_chr11_86940679_86960395 | 86957830 | ACAGGGCC others(47): Show |
A | upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 456 | 0.0022 | -54 | c.-27 others(65): Show |
FZD4 | ENSG00000174804.4 | transcript | ENST00000531380.2 | protein_coding | 2436 | chr11 | TogoVar | |||||||
GABRA5_chr15_26862062_26954208 | 26892397 | GGGCCCTA others(47): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG02027.hp1 NA18612.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0070 others(9): Show |
12 | 376 | 0.0319 | -54 | c.497 others(71): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRP_chr5_170778725_170819047 | 170799098 | AAGGACAT others(47): Show |
A | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 362 | 0.0028 | -54 | c.541 others(71): Show |
GABRP | ENSG00000094755.17 | transcript | ENST00000265294.9 | protein_coding | 6/9 | chr5 | TogoVar | |||||||
GABRP_chr5_170778725_170819047 | 170802672 | AATACCAT others(47): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0009 | a0001c0009t0011 | a0001c0009t0011g0054 | 1 | 362 | 0.0028 | -54 | c.542 others(71): Show |
GABRP | ENSG00000094755.17 | transcript | ENST00000265294.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRP_chr5_170778725_170819047 | 170802699 | TTTTCTCT others(47): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01243.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(14): Show | a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0006g0028 others(22): Show |
32 | 362 | 0.0884 | -54 | c.542 others(71): Show |
GABRP | ENSG00000094755.17 | transcript | ENST00000265294.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16206571 | GCTGAGGC others(47): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0233 a0001c0001t0012g0234 |
2 | 388 | 0.0052 | -54 | c.912 others(71): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
GALNT16_chr14_69255158_69359466 | 69353244 | TTCAACCT others(47): Show |
T | 3_prime_UTR_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0111 | 1 | 306 | 0.0033 | -54 | c.*11 others(65): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 15/15 | 1102 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71701789 | ATATGTGT others(47): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02040.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0016 | a0001c0001t0007g0062 a0001c0001t0011g0036 a0001c0001t0016g0043 |
3 | 76 | 0.0395 | -54 | c.150 others(73): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132203336 | TCACCCAC others(47): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0054 | 1 | 183 | 0.0055 | -54 | c.126 others(71): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 172255282 | TTTCATTG others(47): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02015.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0002g0025 others(5): Show |
8 | 40 | 0.2000 | -54 | c.247 others(73): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252881 | TCACCACC others(47): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02572.hp2 NA19088.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0001c0002t0140a0002c0003t0069 | a0001c0002t0004g0189 a0001c0002t0140g0125 a0002c0003t0069g0133 |
3 | 366 | 0.0082 | -54 | c.666 others(71): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10068255 | GTTTGATC others(47): Show |
G | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0200 | 1 | 218 | 0.0046 | -54 | c.184 others(73): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47328707 | TGTGATGT others(47): Show |
T | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01192.hp1 others(17): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0007a0007c0011t0007 | a0001c0001t0007g0003 a0007c0011t0007g0003 |
20 | 424 | 0.0472 | -54 | c.*29 others(65): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 1120 | chr10 | TogoVar | |||||||
GGT5_chr22_24214660_24250082 | 24238779 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0216 | 1 | 420 | 0.0024 | -54 | c.174 others(71): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | |||||||
GGT5_chr22_24214660_24250082 | 24238811 | TATTATAT others(47): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0010 | a0003c0010t0003 | a0003c0010t0003g0391 | 1 | 420 | 0.0024 | -54 | c.174 others(71): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53709349 | CATATATA others(47): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01106.hp2 others(17): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0004others(12): Show | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0219 others(17): Show |
20 | 236 | 0.0848 | -54 | c.259 others(73): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLOD4_chr17_754330_787280 | 768199 | AAGAAGAA others(47): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0297 a0001c0001t0001g0298 others(1): Show |
5 | 420 | 0.0119 | -54 | c.831 others(71): Show |
GLOD4 | ENSG00000167699.14 | transcript | ENST00000301329.11 | protein_coding | 8/8 | chr17 | TogoVar | |||||||
GLP2R_chr17_9820924_9897099 | 9879254 | TATAAAAT others(47): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02486.hp2 others(6): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0004c0014others(1): Show | a0001c0001t0001a0004c0005t0001a0004c0005t0005others(2): Show | a0001c0001t0001g0144 a0004c0005t0001g0362 a0004c0005t0005g0142 others(6): Show |
9 | 380 | 0.0237 | -54 | c.114 others(73): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128879372 | TTTTCTTT others(47): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG01934.hp2 HG01993.hp1 others(12): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0010 | a0001c0001t0008a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0008g0211 a0001c0002t0001g0051 a0001c0002t0001g0108 others(12): Show |
15 | 320 | 0.0469 | -54 | c.217 others(71): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021902 | AGAAGAAG others(47): Show |
A | intron_variant | MODIFIER | NA18994.hp1 NA18999.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0321 a0001c0003t0001g0333 |
2 | 416 | 0.0048 | -54 | c.-16 others(71): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104021911 | AGAAGAAG others(47): Show |
A | intron_variant | MODIFIER | NA18954.hp1 NA18967.hp2 NA18992.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0314 a0001c0003t0001g0318 a0001c0003t0001g0320 |
3 | 416 | 0.0072 | -54 | c.-16 others(71): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63617589 | CCCCGGCA others(47): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0091 | 1 | 330 | 0.0030 | -54 | c.131 others(71): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GNAT3_chr7_80453635_80517064 | 80493592 | ATCCTCCT others(47): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01099.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0001g0195 others(30): Show |
40 | 334 | 0.1198 | -54 | c.161 others(70): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 2/7 | chr7 | TogoVar |