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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3403): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0101 | 1 | 292 | 0.0034 | 3410 | c.228 others(3427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3403): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0115 | 1 | 292 | 0.0034 | 3410 | c.228 others(3427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3403): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0113 | 1 | 292 | 0.0034 | 3410 | c.228 others(3427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3403): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0139 | 1 | 292 | 0.0034 | 3410 | c.228 others(3427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3403): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0112 | 1 | 292 | 0.0034 | 3410 | c.228 others(3427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3403): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03669.hp2 |
a0004 | a0004c0005a0004c0064 | a0004c0005t0001a0004c0064t0001 | a0004c0005t0001g0116a0004c0064t0001g0117 | 2 | 292 | 0.0069 | 3410 | c.228 others(3427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3403): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0109 | 1 | 292 | 0.0034 | 3410 | c.228 others(3427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3403): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01192.hp1 |
a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0080a0006c0004t0002g0081 | 2 | 292 | 0.0069 | 3410 | c.228 others(3427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3403): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0111 | 1 | 292 | 0.0034 | 3410 | c.228 others(3427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3403): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0102 | 1 | 292 | 0.0034 | 3410 | c.228 others(3427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0031 | a0031c0092 | a0031c0092t0003 | a0031c0092t0003g0129 | 1 | 369 | 0.0027 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0044 | a0001c0044t0001 | a0001c0044t0001g0110 | 1 | 369 | 0.0027 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 NA18969.hp1 NA18995.hp2 others(1): Show |
a0001a0002a0055 | a0001c0004a0002c0005a0055c0077 | a0001c0004t0001a0002c0005t0001a0055c0077t0002 | a0001c0004t0001g0112a0001c0004t0001g0145a0002c0005t0001g0109others(1): Show | 4 | 369 | 0.0108 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 | a0003 | a0003c0001 | a0003c0001t0003 | a0003c0001t0003g0131 | 1 | 369 | 0.0027 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0042 | a0042c0051 | a0042c0051t0002 | a0042c0051t0002g0135 | 1 | 369 | 0.0027 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0015 | a0015c0079 | a0015c0079t0003 | a0015c0079t0003g0279 | 1 | 369 | 0.0027 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0117 | 1 | 369 | 0.0027 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 369 | 0.0027 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG03669.hp1 |
a0001a0004 | a0001c0002a0004c0011 | a0001c0002t0002a0004c0011t0003 | a0001c0002t0002g0147a0004c0011t0003g0101 | 2 | 369 | 0.0054 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0140 | 1 | 369 | 0.0027 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0015 | a0015c0027 | a0015c0027t0007 | a0015c0027t0007g0143 | 1 | 369 | 0.0027 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3403): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01192.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0151a0002c0003t0001g0152 | 2 | 369 | 0.0054 | 3410 | c.-50 others(3421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3403): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 216 | 0.0046 | 3410 | c.-51 others(3429): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3403): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0177 | 1 | 216 | 0.0046 | 3410 | c.-51 others(3429): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3403): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 216 | 0.0046 | 3410 | c.-51 others(3429): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3403): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0002 | a0003c0002t0039 | a0003c0002t0039g0047 | 1 | 216 | 0.0046 | 3410 | c.-51 others(3429): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3403): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 216 | 0.0046 | 3410 | c.-51 others(3429): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3403): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0106 | 1 | 216 | 0.0046 | 3410 | c.-51 others(3429): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3403): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0065 | 1 | 216 | 0.0046 | 3410 | c.-51 others(3429): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3403): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0012 | a0012c0045 | a0012c0045t0001 | a0012c0045t0001g0043 | 1 | 216 | 0.0046 | 3410 | c.-51 others(3429): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3403): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 356 | 0.0028 | 3410 | c.114 others(3427): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ZNF99_chr19_22747183_22789151 | 22771879 | G | GGCTAATT others(3403): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0213 | 1 | 344 | 0.0029 | 3410 | c.4-2 others(3423): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ZNF99_chr19_22747183_22789151 | 22771879 | G | GGCTAATT others(3403): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0184 | 1 | 344 | 0.0029 | 3410 | c.4-2 others(3423): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ZNF99_chr19_22747183_22789151 | 22771879 | G | GGCTAATT others(3403): Show |
intron_variant | MODIFIER | HG00609.hp2 HG03130.hp1 NA18943.hp2 others(3): Show |
a0000a0003 | a0000c0005a0003c0003 | a0000c0005t0008a0003c0003t0004 | a0000c0005t0008g0070a0003c0003t0004g0027a0003c0003t0004g0031others(3): Show | 6 | 344 | 0.0174 | 3410 | c.4-2 others(3423): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3404): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 216 | 0.0046 | 3411 | c.-51 others(3430): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3404): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0110 | 1 | 216 | 0.0046 | 3411 | c.-51 others(3430): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3404): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0067a0003c0002t0001g0128 | 2 | 216 | 0.0093 | 3411 | c.-51 others(3430): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3404): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0130 | 1 | 216 | 0.0046 | 3411 | c.-51 others(3430): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432120 | T | TAGGGTGG others(3404): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0049 | 1 | 376 | 0.0027 | 3411 | c.101 others(3428): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZNF99_chr19_22747183_22789151 | 22771879 | G | GGCTAATT others(3404): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01943.hp1 NA18612.hp2 |
a0002a0019 | a0002c0002a0019c0028 | a0002c0002t0002a0019c0028t0002 | a0002c0002t0002g0221a0002c0002t0002g0250a0019c0028t0002g0245 | 3 | 344 | 0.0087 | 3411 | c.4-2 others(3424): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ZNF99_chr19_22747183_22789151 | 22771879 | G | GGCTAATT others(3404): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0020 | a0020c0030 | a0020c0030t0040 | a0020c0030t0040g0141 | 1 | 344 | 0.0029 | 3411 | c.4-2 others(3424): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ZNF99_chr19_22747183_22789151 | 22771879 | G | GGCTAATT others(3404): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0009 | a0009c0010 | a0009c0010t0041 | a0009c0010t0041g0268 | 1 | 344 | 0.0029 | 3411 | c.4-2 others(3424): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3405): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 316 | 0.0032 | 3412 | c.44- others(3425): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FANK1_chr10_125891564_126014592 | 125925771 | T | TGGAATGA others(3405): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 370 | 0.0027 | 3412 | c.13+ others(3429): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACAC others(3405): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0176 | 1 | 183 | 0.0055 | 3412 | c.107 others(3431): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(3405): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 183 | 0.0055 | 3412 | c.107 others(3431): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3405): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3412 | c.-13 others(3423): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3405): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 365 | 0.0027 | 3412 | c.-10 others(3423): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3405): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 356 | 0.0028 | 3412 | c.114 others(3429): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1740324 | A | AGCCGGAC others(3405): Show |
downstream_gene_variant | MODIFIER | NA19072.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002 | 1 | 431 | 0.0023 | 3412 | c.*26 others(3423): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1740 | chr17 | TogoVar |