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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT5_chr2_157252705_157323491 | 157262155 | ACATAACT others(2): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA18522.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0074a0001c0002t0066a0001c0002t0072 | a0001c0001t0074g0244 a0001c0002t0066g0245 a0001c0002t0072g0246 |
3 | 280 | 0.0107 | -9 | c.145 others(28): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT6_chr12_51346252_51396406 | 51371054 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01361.hp2 HG01928.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0012 | a0001c0001t0013a0001c0001t0017a0001c0003t0015others(2): Show | a0001c0001t0013g0050 a0001c0001t0017g0059 a0001c0003t0015g0288 others(2): Show |
5 | 40 | 0.1250 | -9 | c.665 others(26): Show |
GALNT6 | ENSG00000139629.16 | transcript | ENST00000356317.8 | protein_coding | 4/11 | chr12 | TogoVar | |||||||
GALNT7_chr4_173163811_173328967 | 173225018 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG02630.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0004t0001g0006 others(6): Show |
9 | 32 | 0.2813 | -9 | c.127 others(28): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132223001 | CCCCACAC others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02735.hp2 HG03017.hp1 others(3): Show |
a0001 | a0001c0002a0001c0006a0001c0018others(2): Show | a0001c0002t0001a0001c0006t0001a0001c0018t0001others(2): Show | a0001c0002t0001g0068 a0001c0006t0001g0097 a0001c0006t0001g0098 others(3): Show |
6 | 182 | 0.0330 | -9 | c.107 others(30): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132224607 | ACATACAC others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0014a0001c0019others(1): Show | a0001c0001t0001a0001c0014t0003a0001c0019t0003others(1): Show | a0001c0001t0001g0150 a0001c0014t0003g0074 a0001c0014t0003g0146 others(3): Show |
6 | 182 | 0.0330 | -9 | c.107 others(30): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNTL5_chr7_151951446_152024929 | 151980737 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01516.hp1 NA18942.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0285 others(3): Show |
6 | 18 | 0.3333 | -9 | c.369 others(26): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNTL5_chr7_151951446_152024929 | 151995348 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(27): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0104 a0001c0001t0001g0180 others(26): Show |
30 | 165 | 0.1818 | -9 | c.659 others(26): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172102580 | CCAGAGAT others(2): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02145.hp2 HG02258.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0036 others(14): Show |
17 | 40 | 0.4250 | -9 | c.139 others(30): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172748880 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02145.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0002g0003 others(4): Show |
7 | 23 | 0.3043 | -9 | c.554 others(28): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172802868 | GATTAAGT others(2): Show |
G | intron_variant | MODIFIER | HG02015.hp1 HG02647.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0029 others(4): Show |
7 | 40 | 0.1750 | -9 | c.554 others(26): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172934634 | AGCACACT others(2): Show |
A | intron_variant | MODIFIER | HG02735.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0029 a0001c0001t0012g0027 |
2 | 40 | 0.0500 | -9 | c.114 others(28): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77249082 | AACGCATC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG01255.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0031a0001c0002t0032a0001c0002t0054others(6): Show | a0001c0002t0031g0144 a0001c0002t0031g0205 a0001c0002t0031g0206 others(10): Show |
15 | 364 | 0.0412 | -9 | c.-14 others(20): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 765 | chr18 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77259056 | GATGGTGG others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01069.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0008a0001c0001t0009others(26): Show | a0001c0001t0005g0215 a0001c0001t0005g0251 a0001c0001t0005g0260 others(40): Show |
48 | 362 | 0.1326 | -9 | c.732 others(26): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259275 | GTGGTGGT others(2): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA18966.hp2 NA18991.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0143a0001c0002t0055 | a0001c0001t0019g0024 a0001c0001t0143g0237 a0001c0002t0055g0222 |
4 | 359 | 0.0111 | -9 | c.732 others(26): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77264133 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01361.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0097a0001c0002t0032a0001c0002t0055others(6): Show | a0001c0001t0097g0274 a0001c0002t0032g0006 a0001c0002t0055g0216 others(13): Show |
18 | 64 | 0.2813 | -9 | c.733 others(26): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77268542 | GCCTCCTC others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01167.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0111a0001c0001t0112a0001c0001t0113others(4): Show | a0001c0001t0111g0068 a0001c0001t0112g0079 a0001c0001t0113g0116 others(5): Show |
9 | 281 | 0.0320 | -9 | c.733 others(22): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77271979 | GACTGAGG others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01167.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0111a0001c0001t0112a0001c0001t0113others(4): Show | a0001c0001t0111g0068 a0001c0001t0112g0079 a0001c0001t0113g0116 others(5): Show |
9 | 364 | 0.0247 | -9 | c.*30 others(20): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3/3 | 3079 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALT_chr9_34641675_34656035 | 34644302 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01257.hp2 HG02970.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 |
5 | 181 | 0.0276 | -9 | c.-24 others(20): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2372 | chr9 | TogoVar | |||||||
GANC_chr15_42268201_42358666 | 42347183 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00735.hp2 others(26): Show |
a0003a0009a0013 | a0003c0003a0009c0009a0013c0016 | a0003c0003t0005a0003c0003t0012a0009c0009t0010others(1): Show | a0003c0003t0005g0009 a0003c0003t0005g0016 a0003c0003t0005g0110 others(25): Show |
29 | 260 | 0.1115 | -9 | c.230 others(26): Show |
GANC | ENSG00000214013.10 | transcript | ENST00000318010.13 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GANC_chr15_42268201_42358666 | 42350022 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02965.hp2 others(2): Show |
a0008 | a0008c0011a0008c0025 | a0008c0011t0009a0008c0025t0009 | a0008c0011t0009g0017 a0008c0011t0009g0018 a0008c0011t0009g0020 others(2): Show |
5 | 71 | 0.0704 | -9 | c.253 others(26): Show |
GANC | ENSG00000214013.10 | transcript | ENST00000318010.13 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115698140 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(155): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0032 others(155): Show |
158 | 293 | 0.5392 | -9 | c.628 others(28): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115698205 | TTATATAA others(2): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(5): Show |
8 | 325 | 0.0246 | -9 | c.628 others(28): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125286294 | GTTGTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 |
3 | 338 | 0.0089 | -9 | c.-14 others(28): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125300039 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0317 a0001c0001t0002g0025 a0001c0001t0002g0027 others(10): Show |
13 | 233 | 0.0558 | -9 | c.185 others(24): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | chr9 | TogoVar | |||||||
GAREM1_chr18_32258522_32475882 | 32291349 | AAGGAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01243.hp2 others(17): Show |
a0001a0002a0012 | a0001c0004a0002c0005a0002c0006others(2): Show | a0001c0004t0001a0002c0005t0004a0002c0005t0011others(7): Show | a0001c0004t0001g0135 a0002c0005t0004g0009 a0002c0005t0004g0038 others(17): Show |
20 | 190 | 0.1053 | -9 | c.394 others(26): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 3/5 | chr18 | TogoVar | |||||||
GARIN2_chr14_67184440_67228940 | 67204904 | ATCACAGA others(2): Show |
A | conservative_inframe_deletion | MODERATE | HG02809.hp2 HG02896.hp2 HG02897.hp2 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0032 a0004c0008t0001g0191 |
3 | 330 | 0.0091 | -9 | c.736 others(16): Show |
p.Val others(13): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 5/8 | 979/1620 | 736/1254 | 246/417 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
GARNL3_chr9_127259774_127398660 | 127299321 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(217): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(213): Show |
220 | 298 | 0.7383 | -9 | c.219 others(26): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARRE1_chr19_34249554_34360566 | 34257878 | CTTTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01074.hp1 others(35): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0021a0004c0010t0001 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(35): Show |
38 | 324 | 0.1173 | -9 | c.-79 others(28): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GARRE1_chr19_34249554_34360566 | 34301513 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01074.hp1 others(35): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0021a0004c0010t0001 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(35): Show |
38 | 126 | 0.3016 | -9 | c.495 others(24): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GAS2L3_chr12_100568684_100633288 | 100579685 | GCATGGCG others(2): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0026 | a0001c0001t0016g0178 a0001c0001t0016g0179 a0001c0001t0026g0165 |
3 | 400 | 0.0075 | -9 | c.-15 others(28): Show |
GAS2L3 | ENSG00000139354.11 | transcript | ENST00000547754.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GAS2_chr11_22661611_22818001 | 22732770 | TATCATCA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0082 others(41): Show |
44 | 138 | 0.3188 | -9 | c.410 others(26): Show |
GAS2 | ENSG00000148935.12 | transcript | ENST00000454584.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10006316 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01175.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0002g0113 others(4): Show |
7 | 75 | 0.0933 | -9 | c.304 others(28): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
GAS7_chr17_9905606_10203606 | 10016751 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0002g0057 others(1): Show |
4 | 40 | 0.1000 | -9 | c.304 others(26): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
GAS8_chr16_90017680_90049960 | 90028173 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG03688.hp1 HG03688.hp2 NA18946.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0002t0007a0001c0004t0001 | a0001c0001t0008g0023 a0001c0001t0008g0234 a0001c0001t0008g0290 others(3): Show |
7 | 135 | 0.0519 | -9 | c.90+ others(22): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90045282 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02965.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0017a0001c0002t0013a0001c0002t0017others(2): Show | a0001c0001t0017g0345 a0001c0002t0013g0338 a0001c0002t0013g0339 others(4): Show |
7 | 168 | 0.0417 | -9 | c.*19 others(20): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 323 | chr16 | TogoVar | |||||||
GATA6_chr18_22164589_22207528 | 22177944 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02257.hp1 NA18955.hp1 NA18986.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0049 others(4): Show |
8 | 242 | 0.0331 | -9 | c.130 others(26): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GATA6_chr18_22164589_22207528 | 22197794 | CTCCTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG01975.hp2 others(13): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0176 a0001c0001t0001g0179 others(13): Show |
16 | 284 | 0.0563 | -9 | c.162 others(28): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GATAD1_chr7_92442482_92465075 | 92457161 | GAAAAAAA others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG02895.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0008 | a0001c0001t0008g0011 a0002c0002t0008g0018 a0002c0002t0008g0060 others(1): Show |
7 | 300 | 0.0233 | -9 | c.*61 others(18): Show |
GATAD1 | ENSG00000157259.8 | transcript | ENST00000287957.5 | protein_coding | 5/5 | 611 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GATAD2A_chr19_19400675_19513932 | 19411668 | CCTCAGCT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00741.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0024others(2): Show | a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0127 others(20): Show |
23 | 296 | 0.0777 | -9 | c.-7+ others(24): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GATAD2A_chr19_19400675_19513932 | 19440925 | CCTTCCTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0033 | a0001c0001t0014g0081 a0001c0001t0014g0082 a0001c0001t0014g0083 others(2): Show |
5 | 296 | 0.0169 | -9 | c.-6- others(26): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GATAD2A_chr19_19400675_19513932 | 19440986 | TTTCCTTC others(2): Show |
T | intron_variant | MODIFIER | HG03017.hp2 HG03710.hp1 HG04204.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0012 | a0001c0002t0001g0261 a0001c0002t0012g0116 a0001c0002t0012g0117 others(1): Show |
4 | 251 | 0.0159 | -9 | c.-6- others(26): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81501686 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00597.hp1 others(24): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0013 | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(4): Show | a0001c0001t0002g0183 a0001c0001t0005g0280 a0001c0001t0005g0283 others(24): Show |
27 | 64 | 0.4219 | -9 | c.193 others(28): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 14/15 | chr3 | TogoVar | |||||||
GBGT1_chr9_133147948_133168914 | 133160281 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(34): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0001c0001t0001g0032 a0002c0002t0002g0021 a0002c0002t0002g0045 others(20): Show |
37 | 56 | 0.6607 | -9 | c.137 others(26): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
GBP4_chr1_89176144_89203942 | 89197463 | ATAAAATT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp2 HG02622.hp1 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0011a0003c0003t0018 | a0003c0003t0005g0011 a0003c0003t0005g0017 a0003c0003t0011g0014 others(1): Show |
14 | 400 | 0.0350 | -9 | c.41- others(22): Show |
GBP4 | ENSG00000162654.9 | transcript | ENST00000355754.7 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GCC2_chr2_108444206_108514415 | 108462542 | GTCACAAA others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp2 NA18950.hp1 NA18994.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0049 a0001c0002t0001g0067 a0001c0002t0008g0021 |
3 | 274 | 0.0109 | -9 | c.217 others(26): Show |
GCC2 | ENSG00000135968.22 | transcript | ENST00000309863.11 | protein_coding | 4/22 | chr2 | TogoVar | |||||||
GCFC2_chr2_75657705_75715915 | 75708501 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG03041.hp1 NA18947.hp1 NA18948.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0023 | a0002c0002t0003g0006 a0002c0002t0003g0031 a0002c0002t0023g0120 |
9 | 147 | 0.0612 | -9 | c.266 others(26): Show |
GCFC2 | ENSG00000005436.14 | transcript | ENST00000321027.8 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54838242 | AAAAAAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | 344 | 0.0174 | -9 | c.*57 others(20): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3774 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880630 | CCATATAT others(2): Show |
C | intron_variant | MODIFIER | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 |
3 | 344 | 0.0087 | -9 | c.344 others(28): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54883371 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00639.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0180 others(37): Show |
45 | 146 | 0.3082 | -9 | c.344 others(28): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCK_chr7_44139275_44194439 | 44174854 | CTCTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00621.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0268 a0001c0001t0001g0288 a0001c0001t0001g0303 others(20): Show |
23 | 183 | 0.1257 | -9 | c.45+ others(26): Show |
GCK | ENSG00000106633.18 | transcript | ENST00000403799.8 | protein_coding | 1/9 | chr7 | TogoVar |