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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GCNT2_chr6_10516351_10634368 | 10563772 | AAAAAAAT others(4): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01123.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0050a0001c0001t0001g0053others(25): Show | 28 | 324 | 0.0864 | -11 | c.925 others(30): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10516351_10634368 | 10563774 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG01258.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0038others(15): Show | 18 | 324 | 0.0556 | -11 | c.925 others(30): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10516351_10634368 | 10565383 | AAGGGAAA others(4): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(92): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(92): Show | 95 | 324 | 0.2932 | -11 | c.925 others(30): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10516351_10634368 | 10588831 | ATGTGTGT others(4): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0023a0001c0001t0001g0226a0001c0001t0001g0320others(1): Show | 4 | 324 | 0.0124 | -11 | c.926 others(30): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10516351_10634368 | 10622742 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02257.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0299others(1): Show | 4 | 324 | 0.0124 | -11 | c.101 others(30): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10563768 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG02135.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0085others(2): Show | 5 | 344 | 0.0145 | -11 | c.919 others(28): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10563770 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02056.hp1 HG02071.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0038a0001c0001t0001g0039others(13): Show | 16 | 344 | 0.0465 | -11 | c.919 others(28): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10563772 | AAAAAAAT others(4): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01123.hp2 others(24): Show |
a0001a0003a0004 | a0001c0001a0003c0008a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013others(24): Show | 27 | 344 | 0.0785 | -11 | c.919 others(28): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10563774 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01099.hp1 HG01258.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0022a0001c0001t0001g0024others(15): Show | 18 | 344 | 0.0523 | -11 | c.919 others(28): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10565383 | AAGGGAAA others(4): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(98): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(98): Show | 101 | 344 | 0.2936 | -11 | c.919 others(28): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10588831 | ATGTGTGT others(4): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02630.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0011 | a0001c0001t0001g0090a0001c0001t0001g0292a0001c0002t0001g0283others(1): Show | 4 | 344 | 0.0116 | -11 | c.919 others(30): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10622742 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02257.hp2 HG02922.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0278a0001c0002t0001g0279a0001c0002t0001g0284 | 3 | 344 | 0.0087 | -11 | c.101 others(30): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT3_chr15_59606783_59627723 | 59610240 | TTCCTTCC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0004 | a0002c0004t0042 | a0002c0004t0042g0053 | 1 | 428 | 0.0023 | -11 | c.-19 others(22): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1542 | chr15 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59610393 | TCTCCCTC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02809.hp2 HG03209.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0047a0001c0002t0043others(2): Show | a0001c0001t0003g0005a0001c0001t0047g0033a0001c0002t0043g0108others(2): Show | 5 | 428 | 0.0117 | -11 | c.-18 others(22): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1389 | chr15 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59610960 | TCCCCTCC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0018 | 1 | 428 | 0.0023 | -11 | c.-12 others(22): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 822 | chr15 | TogoVar | ||||||
GCNT4_chr5_75020346_75057558 | 75055400 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0013a0003c0003t0012a0003c0003t0020others(2): Show | a0002c0002t0013g0296a0003c0003t0012g0049a0003c0003t0020g0052others(5): Show | 8 | 382 | 0.0209 | -11 | c.-31 others(22): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 2843 | chr5 | TogoVar | ||||||
GDE1_chr16_19496693_19527098 | 19502374 | CTTTTTTT others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02293.hp1 HG02922.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0070a0001c0001t0012g0084a0001c0001t0012g0088others(2): Show | 5 | 398 | 0.0126 | -11 | c.*10 others(22): Show |
GDE1 | ENSG00000006007.12 | transcript | ENST00000353258.8 | protein_coding | 6/6 | 1085 | chr16 | TogoVar | |||||
GDF3_chr12_7684784_7700775 | 7695266 | AGCCTAAT others(4): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0132 | 1 | 468 | 0.0021 | -11 | c.268 others(26): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GDF5_chr20_35428347_35443228 | 35435450 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006 | a0002c0002t0002g0005a0002c0002t0002g0053a0002c0002t0006g0033 | 16 | 360 | 0.0444 | -11 | c.632 others(26): Show |
GDF5 | ENSG00000125965.9 | transcript | ENST00000374369.8 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
GDF5_chr20_35428347_35443228 | 35442706 | GGCTAATT others(4): Show |
G | upstream_gene_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0019 | 1 | 360 | 0.0028 | -11 | c.-47 others(22): Show |
GDF5 | ENSG00000125965.9 | transcript | ENST00000374369.8 | protein_coding | 4479 | chr20 | TogoVar | ||||||
GDF9_chr5_132856185_132871469 | 132865498 | AGGCAAAG others(4): Show |
A | 5_prime_UTR_variant | MODIFIER | NA18976.hp2 | a0005 | a0005c0007 | a0005c0007t0020 | a0005c0007t0020g0039 | 1 | 464 | 0.0022 | -11 | c.-97 others(20): Show |
GDF9 | ENSG00000164404.9 | transcript | ENST00000687138.1 | protein_coding | 1/2 | 966 | chr5 | TogoVar | |||||
GDI2_chr10_5760223_5818434 | 5794185 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 398 | 0.0025 | -11 | c.388 others(26): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 4/10 | chr10 | TogoVar | ||||||
GDI2_chr10_5760223_5818434 | 5794187 | AAATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0188a0001c0001t0004g0158 | 2 | 398 | 0.0050 | -11 | c.388 others(26): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 4/10 | chr10 | TogoVar | ||||||
GDI2_chr10_5760223_5818434 | 5794189 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01109.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0001g0204a0001c0001t0009g0371a0001c0001t0009g0373others(19): Show | 25 | 398 | 0.0628 | -11 | c.388 others(26): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 4/10 | chr10 | TogoVar | ||||||
GDI2_chr10_5760223_5818434 | 5799268 | TCAAGGCT others(4): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02258.hp1 HG02486.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0093a0001c0001t0001g0204a0001c0001t0002g0090others(9): Show | 12 | 398 | 0.0302 | -11 | c.153 others(28): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59216858 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 312 | 0.0032 | -11 | c.-37 others(22): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 3652 | chr17 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59219059 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG03486.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0098a0001c0001t0001g0155a0001c0001t0013g0065 | 3 | 312 | 0.0096 | -11 | c.-15 others(22): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 1451 | chr17 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59254360 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 312 | 0.0032 | -11 | c.368 others(28): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD1_chr17_59215511_59280970 | 59260060 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0117a0001c0001t0004g0153 | 2 | 312 | 0.0064 | -11 | c.576 others(28): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD1_chr17_59215511_59280970 | 59261913 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 312 | 0.0032 | -11 | c.576 others(28): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD1_chr17_59215511_59280970 | 59268578 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0234a0001c0001t0007g0235a0001c0001t0007g0237others(9): Show | 12 | 312 | 0.0385 | -11 | c.710 others(28): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD4_chr11_77211558_77306686 | 77228206 | AGCCAGGC others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01255.hp2 others(2): Show |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0006a0006c0006t0006 | a0004c0004t0006g0204a0004c0004t0006g0205a0004c0004t0006g0208others(2): Show | 5 | 350 | 0.0143 | -11 | c.147 others(28): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 15/16 | chr11 | TogoVar | ||||||
GDPD4_chr11_77211558_77306686 | 77235959 | TAAAAACA others(4): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301a0001c0001t0001g0303 | 2 | 350 | 0.0057 | -11 | c.124 others(30): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/16 | chr11 | TogoVar | ||||||
GDPGP1_chr15_90229209_90250811 | 90246787 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02074.hp1 HG02080.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0006g0004a0001c0001t0020g0024a0001c0001t0021g0024others(1): Show | 5 | 438 | 0.0114 | -11 | c.*47 others(22): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 977 | chr15 | TogoVar | ||||||
GDPGP1_chr15_90229209_90250811 | 90248718 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0001 | 2 | 438 | 0.0046 | -11 | c.*66 others(22): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 2908 | chr15 | TogoVar | ||||||
GEMIN2_chr14_39109323_39141973 | 39133030 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | NA19011.hp2 | a0003 | a0003c0002 | a0003c0002t0005 | a0003c0002t0005g0171 | 1 | 424 | 0.0024 | -11 | c.712 others(26): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GEMIN4_chr17_739421_757264 | 744392 | AAACATTA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 4 | 434 | 0.0092 | -11 | c.*46 others(20): Show |
GEMIN4 | ENSG00000179409.11 | transcript | ENST00000319004.6 | protein_coding | 28 | chr17 | TogoVar | ||||||
GEMIN4_chr17_739421_757264 | 753667 | AATACACA others(4): Show |
A | upstream_gene_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0007 | 1 | 434 | 0.0023 | -11 | c.-15 others(22): Show |
GEMIN4 | ENSG00000179409.11 | transcript | ENST00000319004.6 | protein_coding | 1404 | chr17 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38773784 | TTTCTTTC others(4): Show |
T | upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0055 | 1 | 412 | 0.0024 | -11 | c.-45 others(22): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 4425 | chr2 | TogoVar | ||||||
GEMIN7_chr19_45074260_45096518 | 45080758 | GTTTTTTG others(4): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 420 | 0.0024 | -11 | c.-9+ others(24): Show |
GEMIN7 | ENSG00000142252.11 | transcript | ENST00000270257.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GEMIN8_chrX_14001726_14034892 | 14011516 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02897.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0061a0001c0001t0002g0008a0001c0001t0005g0027others(3): Show | 10 | 273 | 0.0366 | -11 | c.473 others(28): Show |
GEMIN8 | ENSG00000046647.14 | transcript | ENST00000680255.1 | protein_coding | 4/4 | chrX | TogoVar | ||||||
GET1_chr21_39375326_39402889 | 39378596 | TTTCTTTC others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | -11 | c.-17 others(22): Show |
GET1 | ENSG00000182093.16 | transcript | ENST00000649170.1 | protein_coding | 1729 | chr21 | TogoVar | ||||||
GFM1_chr3_158639527_158700581 | 158645635 | TGGAAGGC others(4): Show |
T | frameshift_variant | HIGH | HG02622.hp1 | a0005 | a0005c0006 | a0005c0006t0011 | a0005c0006t0011g0298 | 1 | 372 | 0.0027 | -11 | c.89_ others(16): Show |
p.Trp others(4): Show |
GFM1 | ENSG00000168827.15 | transcript | ENST00000486715.6 | protein_coding | 2/18 | 197/6478 | 89/2256 | 30/751 | chr3 | TogoVar | ||
GFM1_chr3_158639527_158700581 | 158647679 | CATTTTCT others(4): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0304 | 1 | 372 | 0.0027 | -11 | c.572 others(26): Show |
GFM1 | ENSG00000168827.15 | transcript | ENST00000486715.6 | protein_coding | 4/17 | chr3 | TogoVar | ||||||
GFM2_chr5_74716206_74772117 | 74744184 | CCATACAG others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(39): Show |
a0003a0005a0008others(1): Show | a0003c0003a0005c0007a0008c0013others(1): Show | a0003c0003t0001a0005c0007t0001a0008c0013t0001others(1): Show | a0003c0003t0001g0011a0003c0003t0001g0012a0003c0003t0001g0038others(32): Show | 42 | 372 | 0.1129 | -11 | c.849 others(28): Show |
GFM2 | ENSG00000164347.18 | transcript | ENST00000296805.8 | protein_coding | 10/20 | chr5 | TogoVar | ||||||
GFM2_chr5_74716206_74772117 | 74762810 | ATTAAGTG others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 372 | 0.0027 | -11 | c.63+ others(24): Show |
GFM2 | ENSG00000164347.18 | transcript | ENST00000296805.8 | protein_coding | 2/20 | chr5 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13363555 | CTTTTTTT others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0110 | 1 | 230 | 0.0044 | -11 | c.*11 others(22): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 2/2 | 1177 | chr6 | TogoVar | |||||
GFOD1_chr6_13352830_13492600 | 13392343 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0193 | 1 | 230 | 0.0044 | -11 | c.254 others(30): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13409930 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(85): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0059a0001c0001t0001g0061a0001c0001t0001g0062others(85): Show | 88 | 230 | 0.3826 | -11 | c.254 others(30): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13447740 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0110 | a0001c0001t0031g0001a0001c0001t0110g0178 | 2 | 230 | 0.0087 | -11 | c.253 others(30): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar |