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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3409): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG02451.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033a0001c0001t0002g0040a0001c0001t0002g0182 | 3 | 365 | 0.0082 | 3416 | c.-10 others(3427): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1740324 | A | AGCCGGAC others(3409): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002 | 1 | 431 | 0.0023 | 3416 | c.*26 others(3427): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1740 | chr17 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1740324 | A | AGCCGGAC others(3409): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002 | 1 | 431 | 0.0023 | 3416 | c.*26 others(3427): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1740 | chr17 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1740324 | A | AGCCGGAC others(3409): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0016 | 1 | 431 | 0.0023 | 3416 | c.*26 others(3427): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1740 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 405 | 0.0049 | 3417 | c.-13 others(3428): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3417 | c.-13 others(3428): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3417 | c.-13 others(3428): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 405 | 0.0049 | 3417 | c.-13 others(3428): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG01081.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0001 | 37 | 405 | 0.0914 | 3417 | c.-13 others(3428): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 405 | 0.0074 | 3417 | c.-13 others(3428): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3417 | c.-13 others(3428): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 405 | 0.0049 | 3417 | c.-13 others(3428): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053a0001c0001t0002g0083 | 2 | 365 | 0.0055 | 3417 | c.-10 others(3428): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG01358.hp2 HG02056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057a0001c0001t0002g0065a0001c0001t0002g0125others(1): Show | 4 | 365 | 0.0110 | 3417 | c.-10 others(3428): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01081.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0029others(28): Show | 33 | 365 | 0.0904 | 3417 | c.-10 others(3428): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036a0001c0001t0002g0037 | 2 | 365 | 0.0055 | 3417 | c.-10 others(3428): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 365 | 0.0027 | 3417 | c.-10 others(3428): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3410): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041a0001c0001t0002g0124 | 2 | 365 | 0.0055 | 3417 | c.-10 others(3428): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3411): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 424 | 0.0024 | 3418 | c.*49 others(3429): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3411): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0107 | 1 | 292 | 0.0034 | 3418 | c.228 others(3435): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3411): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0099 | 1 | 292 | 0.0034 | 3418 | c.228 others(3435): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3411): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0015 | a0003c0015t0005 | a0003c0015t0005g0002 | 1 | 369 | 0.0027 | 3418 | c.-50 others(3429): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3411): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0003 | a0003c0001 | a0003c0001t0003 | a0003c0001t0003g0330 | 1 | 369 | 0.0027 | 3418 | c.-50 others(3429): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3411): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0338 | 1 | 369 | 0.0027 | 3418 | c.-50 others(3429): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3411): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0003 | a0003c0015 | a0003c0015t0007 | a0003c0015t0007g0122 | 1 | 369 | 0.0027 | 3418 | c.-50 others(3429): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3418 | c.-13 others(3429): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 405 | 0.0025 | 3418 | c.-13 others(3429): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01099.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 19 | 405 | 0.0469 | 3418 | c.-13 others(3429): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG03098.hp1 NA18522.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 4 | 405 | 0.0099 | 3418 | c.-13 others(3429): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3418 | c.-13 others(3429): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3418 | c.-13 others(3429): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3418 | c.-13 others(3429): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3418 | c.-13 others(3429): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3418 | c.-13 others(3429): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 365 | 0.0027 | 3418 | c.-10 others(3429): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01071.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0005a0001c0001t0002g0043a0001c0001t0002g0049others(13): Show | 17 | 365 | 0.0466 | 3418 | c.-10 others(3429): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG03098.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0193others(1): Show | 4 | 365 | 0.0110 | 3418 | c.-10 others(3429): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 365 | 0.0027 | 3418 | c.-10 others(3429): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164 | 1 | 365 | 0.0027 | 3418 | c.-10 others(3429): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3411): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 365 | 0.0027 | 3418 | c.-10 others(3429): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
ZNF99_chr19_22747183_22789151 | 22771855 | T | TTACTACT others(3411): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0206 | 1 | 344 | 0.0029 | 3418 | c.4-2 others(3431): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ZNF99_chr19_22747183_22789151 | 22771855 | T | TTACTACT others(3411): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 344 | 0.0029 | 3418 | c.4-2 others(3431): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3412): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01167.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 19 | 405 | 0.0469 | 3419 | c.-13 others(3430): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3412): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3419 | c.-13 others(3430): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3412): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 365 | 0.0027 | 3419 | c.-10 others(3430): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3412): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG01167.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0002 | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0039others(17): Show | 20 | 365 | 0.0548 | 3419 | c.-10 others(3430): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3413): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 424 | 0.0024 | 3420 | c.*49 others(3431): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(3413): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0131 | 1 | 298 | 0.0034 | 3420 | c.955 others(3437): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 405 | 0.0025 | 3420 | c.-13 others(3431): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG02027.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 12 | 405 | 0.0296 | 3420 | c.-13 others(3431): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar |