regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT2_chr1_230062238_230287122 | 230185281 | TGTGTGTG others(17): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01123.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0012others(12): Show | a0001c0001t0007g0069a0001c0001t0009g0177a0001c0001t0012g0208others(23): Show | 26 | 324 | 0.0803 | -24 | c.220 others(41): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALNT5_chr2_157252705_157323491 | 157256567 | AAAATATA others(17): Show |
A | upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 282 | 0.0036 | -24 | c.-15 others(35): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1137 | chr2 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132203733 | AAGCGGGC others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG02027.hp1 others(7): Show |
a0001 | a0001c0011a0001c0013a0001c0020others(2): Show | a0001c0011t0001a0001c0013t0004a0001c0020t0001others(2): Show | a0001c0011t0001g0057a0001c0011t0001g0065a0001c0011t0001g0116others(7): Show | 10 | 183 | 0.0546 | -24 | c.107 others(39): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNTL5_chr7_151951446_152024929 | 151981567 | TTCCTTCC others(17): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01169.hp2 HG01175.hp2 others(13): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0002a0007c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0193a0001c0001t0001g0303others(13): Show | 16 | 384 | 0.0417 | -24 | c.369 others(41): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNTL5_chr7_151951446_152024929 | 151981583 | TTCCTTCC others(17): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02717.hp1 others(1): Show |
a0001a0013 | a0001c0001a0013c0013 | a0001c0001t0001a0001c0001t0002a0013c0013t0001 | a0001c0001t0001g0014a0001c0001t0002g0329a0001c0001t0002g0368others(1): Show | 4 | 384 | 0.0104 | -24 | c.369 others(41): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNTL5_chr7_151951446_152024929 | 151995348 | ATTTTTTT others(17): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp1 HG02257.hp1 others(18): Show |
a0001a0005a0008others(1): Show | a0001c0001a0005c0005a0008c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(18): Show | 21 | 384 | 0.0547 | -24 | c.659 others(41): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172034395 | CGTGCGTG others(17): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 40 | 0.0250 | -24 | c.139 others(45): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172034399 | CGTGTGTG others(17): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 40 | 0.0250 | -24 | c.139 others(45): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172339257 | CCACACAC others(17): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 40 | 0.0250 | -24 | c.387 others(41): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172443121 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007 | a0001c0001t0002g0009a0001c0001t0006g0020a0001c0001t0007g0006 | 3 | 40 | 0.0750 | -24 | c.553 others(43): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172481496 | TATTTTAC others(17): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0025a0001c0001t0009g0024 | 2 | 40 | 0.0500 | -24 | c.553 others(45): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172579788 | AGGAAGGA others(17): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0009a0001c0001t0010g0021 | 2 | 40 | 0.0500 | -24 | c.554 others(45): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172606652 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0038 | 1 | 40 | 0.0250 | -24 | c.554 others(45): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172728486 | GTATATGT others(17): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0023a0001c0001t0006g0020 | 2 | 40 | 0.0500 | -24 | c.554 others(43): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172748880 | TTTGTTGT others(17): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 40 | 0.0250 | -24 | c.554 others(43): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172759799 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 40 | 0.0250 | -24 | c.554 others(43): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172825078 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0002g0003a0001c0001t0002g0026others(1): Show | 4 | 40 | 0.1000 | -24 | c.923 others(43): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77246345 | TTAAAAGA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0108 | 1 | 366 | 0.0027 | -24 | c.-42 others(35): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3502 | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252935 | CCACCACC others(17): Show |
C | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0306 | 1 | 366 | 0.0027 | -24 | c.666 others(41): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77258455 | ATGATGGT others(17): Show |
A | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 366 | 0.0027 | -24 | c.732 others(41): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77258851 | GTGATGGT others(17): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0007 | a0007c0011 | a0007c0011t0119 | a0007c0011t0119g0315 | 1 | 366 | 0.0027 | -24 | c.732 others(41): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77259150 | CATGGTGG others(17): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01167.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0032a0001c0001t0038others(5): Show | a0001c0001t0019g0229a0001c0001t0019g0232a0001c0001t0019g0236others(8): Show | 13 | 366 | 0.0355 | -24 | c.732 others(41): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77282782 | TGAAAGAA others(17): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(177): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0009others(68): Show | a0001c0001t0005g0223a0001c0001t0005g0276a0001c0001t0005g0287others(170): Show | 180 | 366 | 0.4918 | -24 | c.*13 others(37): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 4883 | chr18 | TogoVar | ||||||
GALT_chr9_34641675_34656035 | 34644300 | ATTATATA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0006 | 1 | 416 | 0.0024 | -24 | c.-24 others(35): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2374 | chr9 | TogoVar | ||||||
GANAB_chr11_62619829_62651613 | 62638580 | GAGGAAGG others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(80): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0013a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0014others(49): Show | 83 | 308 | 0.2695 | -24 | c.380 others(39): Show |
GANAB | ENSG00000089597.18 | transcript | ENST00000356638.8 | protein_coding | 4/23 | chr11 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115716711 | CAGACAAA others(17): Show |
C | intron_variant | MODIFIER | HG02976.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0350 | 2 | 352 | 0.0057 | -24 | c.629 others(41): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125300038 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0259 | 1 | 340 | 0.0029 | -24 | c.185 others(39): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GARIN2_chr14_67184440_67228940 | 67193541 | ATATATCT others(17): Show |
A | intron_variant | MODIFIER | NA18954.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0107 | 2 | 332 | 0.0060 | -24 | c.-11 others(43): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GARIN5A_chr19_50461788_50481848 | 50471642 | ATATACGC others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(66): Show | 160 | 414 | 0.3865 | -24 | c.539 others(41): Show |
GARIN5A | ENSG00000142530.11 | transcript | ENST00000600100.6 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
GARIN5B_chr19_55349908_55368260 | 55358511 | GGCTCCTT others(17): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(299): Show |
a0001a0003a0005others(27): Show | a0001c0001a0001c0014a0001c0028others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(113): Show | 302 | 356 | 0.8483 | -24 | c.233 others(33): Show |
p.Gln others(13): Show |
GARIN5B | ENSG00000180043.11 | transcript | ENST00000424985.3 | protein_coding | 9/11 | 2550/3191 | 2333/2769 | 778/922 | chr19 | TogoVar | ||
GARRE1_chr19_34249554_34360566 | 34290874 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01071.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0017a0001c0002t0002others(1): Show | a0001c0001t0001g0317a0001c0001t0017g0002a0001c0002t0002g0010others(20): Show | 23 | 326 | 0.0706 | -24 | c.-79 others(43): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GAS6_chr13_113815549_113869076 | 113851086 | GATGAGTG others(17): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 143 | 0.0070 | -24 | c.256 others(41): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 2/14 | chr13 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10005138 | CGCGCACG others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0049a0001c0001t0001g0077a0001c0001t0001g0080others(61): Show | 64 | 218 | 0.2936 | -24 | c.304 others(43): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10046785 | AAAGGAAG others(17): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0009 | 1 | 218 | 0.0046 | -24 | c.184 others(43): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90029174 | TTACGGGG others(17): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0338 | 1 | 390 | 0.0026 | -24 | c.90+ others(39): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GATAD2B_chr1_153799725_153927972 | 153922920 | AGCGGCGG others(17): Show |
A | 5_prime_UTR_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0349 | 1 | 349 | 0.0029 | -24 | c.-21 others(33): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/11 | 94574 | chr1 | TogoVar | |||||
GATB_chr4_151665504_151766007 | 151697953 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02922.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0266 | 3 | 320 | 0.0094 | -24 | c.119 others(43): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 9/12 | chr4 | TogoVar | ||||||
GATC_chr12_120441444_120468749 | 120447057 | TTTTTTTT others(17): Show |
T | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 408 | 0.0025 | -24 | c.254 others(39): Show |
GATC | ENSG00000257218.6 | transcript | ENST00000551765.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GATD3_chr21_44128683_44150711 | 44143935 | ACCAAGAA others(17): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG02148.hp1 HG02155.hp2 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(2): Show | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0027others(9): Show | 20 | 54 | 0.3704 | -24 | c.678 others(39): Show |
GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
GBE1_chr3_81484703_81766645 | 81702100 | AGAGTGTG others(17): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 304 | 0.0033 | -24 | c.313 others(41): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
GCC2_chr2_108444206_108514415 | 108448074 | ACACACGT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 | 1 | 276 | 0.0036 | -24 | c.-12 others(35): Show |
GCC2 | ENSG00000135968.22 | transcript | ENST00000309863.11 | protein_coding | 1131 | chr2 | TogoVar | ||||||
GCH1_chr14_54837017_54907826 | 54880839 | TATATACT others(17): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0329 | 1 | 346 | 0.0029 | -24 | c.344 others(43): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
GCM2_chr6_10868223_10887041 | 10871865 | GATATATA others(17): Show |
G | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 426 | 0.0024 | -24 | c.*21 others(35): Show |
GCM2 | ENSG00000124827.7 | transcript | ENST00000379491.5 | protein_coding | 1357 | chr6 | TogoVar | ||||||
GCM2_chr6_10868223_10887041 | 10880214 | GATTGCAC others(17): Show |
G | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 426 | 0.0024 | -24 | c.90+ others(39): Show |
GCM2 | ENSG00000124827.7 | transcript | ENST00000379491.5 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
GCM2_chr6_10868223_10887041 | 10881554 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0135 | 1 | 426 | 0.0024 | -24 | c.90+ others(37): Show |
GCM2 | ENSG00000124827.7 | transcript | ENST00000379491.5 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10607683 | CCTAACTT others(17): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG00741.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0092a0001c0001t0001g0094a0001c0001t0001g0116others(12): Show | 15 | 324 | 0.0463 | -24 | c.926 others(43): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10607683 | CCTAACTT others(17): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00738.hp1 others(13): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0035a0001c0001t0001g0049a0001c0001t0001g0069others(13): Show | 16 | 344 | 0.0465 | -24 | c.920 others(43): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT3_chr15_59606783_59627723 | 59610185 | GCCTGCCT others(17): Show |
G | upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 428 | 0.0023 | -24 | c.-20 others(35): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1597 | chr15 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59610197 | GCCTTCCT others(17): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01070.hp2 others(12): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0089a0001c0001t0002g0001others(11): Show | 15 | 428 | 0.0351 | -24 | c.-20 others(35): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1585 | chr15 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59610651 | CTCCTTCC others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG03942.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0109a0001c0002t0092 | a0001c0001t0005g0002a0001c0001t0109g0116a0001c0002t0092g0115 | 3 | 428 | 0.0070 | -24 | c.-15 others(35): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1131 | chr15 | TogoVar |