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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRLF2_chrX_1185490_1217649 | 1198339 | C | CGAAGGCA others(449): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 167 | 0.0060 | 456 | c.646 others(471): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1296260 | A | ACCCTACA others(449): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 159 | 0.0063 | 456 | c.810 others(471): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1296260 | A | ACCCTACA others(449): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0128 | 1 | 159 | 0.0063 | 456 | c.810 others(471): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1296325 | C | CTTTCCTA others(449): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 a0001c0001t0003g0148 |
2 | 159 | 0.0126 | 456 | c.810 others(471): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933771 | A | AGTGAGTG others(449): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0011 | a0011c0014 | a0011c0014t0007 | a0011c0014t0007g0070 | 1 | 386 | 0.0026 | 456 | c.198 others(471): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397709 | T | TGGGGGGG others(449): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 367 | 0.0027 | 456 | c.-42 others(467): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4175 | chr16 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233396898 | A | AAGAGGAC others(449): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0104 | 1 | 336 | 0.0030 | 456 | c.348 others(473): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233396898 | A | AAGAGGAC others(449): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0033a0001c0002t0003others(3): Show | a0001c0001t0001g0105 a0001c0001t0033g0095 a0001c0002t0003g0102 others(20): Show |
23 | 336 | 0.0685 | 456 | c.348 others(473): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233396898 | A | AAGAGGAC others(449): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0005 | a0005c0015 | a0005c0015t0004 | a0005c0015t0004g0118 | 1 | 336 | 0.0030 | 456 | c.348 others(473): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 418114 | G | GGAGCTCG others(449): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0037 | 1 | 88 | 0.0114 | 456 | c.739 others(471): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478383 | G | GGAGGGGA others(449): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 88 | 0.0114 | 456 | c.158 others(473): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89634802 | C | CCCTTCCT others(449): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0006 | 1 | 250 | 0.0040 | 456 | c.105 others(473): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915348 | G | GACACGCT others(449): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02015.hp2 |
a0001a0002 | a0001c0001a0002c0019 | a0001c0001t0005a0002c0019t0015 | a0001c0001t0005g0196 a0002c0019t0015g0043 |
2 | 274 | 0.0073 | 456 | c.179 others(475): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917065 | C | CATTTAGG others(449): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 274 | 0.0037 | 456 | c.179 others(475): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282553 | G | GGGAGGGG others(449): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 294 | 0.0034 | 456 | c.-36 others(467): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3319 | chr19 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137819425 | C | CTGAGGGG others(449): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp2 HG01258.hp1 |
a0001a0005 | a0001c0002a0005c0017 | a0001c0002t0001a0005c0017t0001 | a0001c0002t0001g0016 a0001c0002t0001g0017 a0005c0017t0001g0007 |
3 | 170 | 0.0177 | 456 | c.354 others(475): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927963 | G | GTGGTGGT others(449): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03654.hp2 HG04115.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0001a0001c0004t0003 | a0001c0003t0003g0184 a0001c0004t0001g0115 a0001c0004t0003g0131 |
3 | 288 | 0.0104 | 456 | c.190 others(475): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706405 | G | GATACATA others(449): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0088 | 1 | 292 | 0.0034 | 456 | c.228 others(473): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706405 | G | GATACATA others(449): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0303 | 1 | 369 | 0.0027 | 456 | c.-49 others(467): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4795 | chr4 | TogoVar | |||||||
FAM171A1_chr10_15206643_15376289 | 15229815 | A | ATCACCAT others(449): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0120 | 1 | 303 | 0.0033 | 456 | c.755 others(473): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
FAM83F_chr22_39989954_40048534 | 40007267 | C | CTCCTCCT others(449): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0193 | 1 | 234 | 0.0043 | 456 | c.489 others(475): Show |
FAM83F | ENSG00000133477.17 | transcript | ENST00000333407.11 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
FBXO34_chr14_55266421_55358611 | 55332013 | A | AATATATA others(449): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 334 | 0.0030 | 456 | c.-10 others(475): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113816055 | T | TATGGGGA others(449): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG03195.hp2 |
a0001a0003 | a0001c0004a0003c0009 | a0001c0004t0001a0003c0009t0001 | a0001c0004t0001g0125 a0003c0009t0001g0124 |
2 | 143 | 0.0140 | 456 | c.*48 others(467): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4493 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113816073 | C | CACTGGTC others(449): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0126 | 1 | 143 | 0.0070 | 456 | c.*47 others(467): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4475 | chr13 | TogoVar | |||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0038 | a0002c0002t0038g0051 | 1 | 248 | 0.0040 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 248 | 0.0040 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18950.hp2 NA18983.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0074a0001c0001t0097others(2): Show | a0001c0001t0002g0223 a0001c0001t0074g0151 a0001c0001t0097g0153 others(2): Show |
5 | 248 | 0.0202 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0154 | 1 | 248 | 0.0040 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02004.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0003a0001c0001t0031a0001c0001t0052others(10): Show | a0001c0001t0003g0069 a0001c0001t0031g0011 a0001c0001t0052g0246 others(10): Show |
13 | 248 | 0.0524 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02738.hp2 HG03654.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0076a0001c0001t0094others(2): Show | a0001c0001t0023g0203 a0001c0001t0076g0176 a0001c0001t0094g0111 others(2): Show |
5 | 248 | 0.0202 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0147 | 1 | 248 | 0.0040 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19240.hp2 |
a0003 | a0003c0004 | a0003c0004t0034a0003c0004t0035 | a0003c0004t0034g0003 a0003c0004t0035g0004 |
2 | 248 | 0.0081 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(146): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(112): Show | a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0161 others(146): Show |
149 | 248 | 0.6008 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01074.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(17): Show | a0001c0001t0004g0183 a0001c0001t0006g0239 a0001c0001t0007g0125 others(19): Show |
22 | 248 | 0.0887 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02965.hp2 HG03516.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0162a0001c0001t0176a0002c0003t0067 | a0001c0001t0162g0015 a0001c0001t0176g0016 a0002c0003t0067g0056 |
3 | 248 | 0.0121 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0129 | 1 | 248 | 0.0040 | 456 | c.116 others(475): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 1 | 284 | 0.0035 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 284 | 0.0035 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18612.hp2 NA18950.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0056a0001c0001t0079others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0112 a0001c0001t0056g0014 others(2): Show |
5 | 284 | 0.0176 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0284 | 1 | 284 | 0.0035 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02004.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(10): Show | a0001c0001t0001g0018 a0001c0001t0003g0072 a0001c0001t0012g0262 others(11): Show |
14 | 284 | 0.0493 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03831.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0073a0001c0001t0127others(2): Show | a0001c0001t0012g0198 a0001c0001t0073g0040 a0001c0001t0127g0035 others(2): Show |
5 | 284 | 0.0176 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0141 | a0001c0001t0015g0143 a0001c0001t0141g0174 |
2 | 284 | 0.0070 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG02145.hp1 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0169a0001c0003t0170 | a0001c0003t0169g0063 a0001c0003t0170g0064 |
2 | 284 | 0.0070 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(113): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0031 others(170): Show |
173 | 284 | 0.6092 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(26): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(20): Show | a0001c0001t0002g0203 a0001c0001t0004g0062 a0001c0001t0004g0132 others(26): Show |
29 | 284 | 0.1021 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02965.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0117a0001c0001t0152a0001c0001t0165 | a0001c0001t0117g0264 a0001c0001t0152g0258 a0001c0001t0165g0054 |
3 | 284 | 0.0106 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11874556 | C | CTGCACTC others(449): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0029 | 1 | 284 | 0.0035 | 456 | c.932 others(473): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GOLT1A_chr1_204193163_204218988 | 204195224 | T | TACACACA others(449): Show |
downstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 414 | 0.0024 | 456 | c.*32 others(467): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 2938 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204195224 | T | TACACACA others(449): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 414 | 0.0024 | 456 | c.*32 others(467): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 2938 | chr1 | TogoVar |