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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHMP1A_chr16_89639435_89662708 | 89648111 | G | GACCCAGT others(917): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 348 | 0.0029 | 924 | c.253 others(939): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648183 | C | CGCCGACG others(917): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0092 | 1 | 316 | 0.0032 | 924 | c.253 others(939): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648195 | G | GACCCAGC others(917): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 352 | 0.0028 | 924 | c.253 others(939): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648279 | G | GACCCAGC others(917): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 351 | 0.0028 | 924 | c.253 others(939): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725575 | C | CGAGCAGA others(917): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0280 | 1 | 292 | 0.0034 | 924 | c.340 others(941): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132149138 | T | TACCACAC others(917): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0012 | a0012c0017 | a0012c0017t0017 | a0012c0017t0017g0023 | 1 | 177 | 0.0056 | 924 | c.-48 others(935): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4820 | chr12 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(917): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 86 | 0.0116 | 924 | c.*39 others(935): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
DIRAS1_chr19_2709567_2726372 | 2713713 | T | TCACCTCC others(917): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 241 | 0.0041 | 924 | c.*34 others(935): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 853 | chr19 | TogoVar | |||||||
DIRAS1_chr19_2709567_2726372 | 2713713 | T | TCACCTCC others(917): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 241 | 0.0041 | 924 | c.*34 others(935): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 853 | chr19 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(917): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0014 | 2 | 126 | 0.0159 | 924 | c.236 others(943): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(917): Show |
intron_variant | MODIFIER | HG02602.hp1 NA18948.hp1 NA18962.hp1 others(3): Show |
a0001a0004 | a0001c0005a0004c0004 | a0001c0005t0004a0004c0004t0006 | a0001c0005t0004g0152 a0001c0005t0004g0205 a0001c0005t0004g0206 others(3): Show |
6 | 130 | 0.0462 | 924 | c.236 others(943): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(917): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0024 | 1 | 125 | 0.0080 | 924 | c.236 others(943): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(917): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0002 | 2 | 126 | 0.0159 | 924 | c.236 others(943): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(917): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0029 | 1 | 125 | 0.0080 | 924 | c.236 others(943): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(917): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0136 | 1 | 125 | 0.0080 | 924 | c.236 others(943): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(917): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 125 | 0.0080 | 924 | c.236 others(943): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252890 | C | CCACCACC others(917): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0086 | 1 | 342 | 0.0029 | 924 | c.666 others(941): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(917): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0252 | 1 | 10 | 0.1000 | 924 | c.310 others(939): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41544877 | T | TACCACCT others(917): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0014 | a0014c0014 | a0014c0014t0078 | a0014c0014t0078g0053 | 1 | 106 | 0.0094 | 924 | c.520 others(945): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(917): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0013 | 1 | 110 | 0.0091 | 924 | c.735 others(941): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(917): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0114 | 1 | 110 | 0.0091 | 924 | c.735 others(941): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(917): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01071.hp1 others(1): Show |
a0001a0005 | a0001c0003a0001c0006a0005c0020 | a0001c0003t0012a0001c0006t0008a0005c0020t0002 | a0001c0003t0012g0066 a0001c0006t0008g0115 a0005c0020t0002g0063 others(1): Show |
4 | 113 | 0.0354 | 924 | c.735 others(941): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(917): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01358.hp2 HG01361.hp2 others(3): Show |
a0001a0005a0021 | a0001c0001a0001c0003a0005c0031others(1): Show | a0001c0001t0004a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0004g0116 a0001c0003t0001g0235 a0001c0003t0002g0064 others(3): Show |
6 | 115 | 0.0522 | 924 | c.735 others(941): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(917): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0020 | a0020c0103 | a0020c0103t0002 | a0020c0103t0002g0110 | 1 | 110 | 0.0091 | 924 | c.735 others(941): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(917): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0091 | a0001c0091t0004 | a0001c0091t0004g0119 | 1 | 110 | 0.0091 | 924 | c.735 others(941): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(917): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG01891.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0045a0001c0003t0001others(3): Show | a0001c0001t0003g0104 a0001c0001t0045g0036 a0001c0003t0001g0094 others(4): Show |
7 | 22 | 0.3182 | 924 | c.56- others(941): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(917): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0004 | a0001c0004t0030 | a0001c0004t0030g0012 | 1 | 16 | 0.0625 | 924 | c.56- others(941): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(917): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0087 | 1 | 16 | 0.0625 | 924 | c.56- others(941): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KRTAP4-6_chr17_41134433_41145544 | 41144157 | T | TTTTTCTT others(917): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 401 | 0.0025 | 924 | c.-36 others(935): Show |
KRTAP4-6 | ENSG00000198090.4 | transcript | ENST00000345847.5 | protein_coding | 3614 | chr17 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(917): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01175.hp1 |
a0008a0038 | a0008c0006a0038c0033 | a0008c0006t0003a0038c0033t0003 | a0008c0006t0003g0183 a0008c0006t0003g0184 a0038c0033t0003g0182 |
3 | 33 | 0.0909 | 924 | c.956 others(941): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174557 | T | TATATATA others(917): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0266 | 1 | 279 | 0.0036 | 924 | c.126 others(941): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(917): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0012 | a0001c0012t0038 | a0001c0012t0038g0070 | 1 | 391 | 0.0026 | 924 | c.-28 others(935): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1333885 | A | ATCCCATG others(917): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 369 | 0.0027 | 924 | c.765 others(941): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113069047 | G | GCCAGCTA others(917): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 61 | 0.0164 | 924 | c.882 others(941): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(917): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0033 | 1 | 8 | 0.1250 | 924 | c.250 others(939): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132148995 | C | CGCCTCGC others(917): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 292 | 0.0034 | 924 | c.901 others(939): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149138 | T | TACCACAC others(917): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 159 | 0.0063 | 924 | c.901 others(939): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149578 | C | CACCACAC others(917): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0199 | 1 | 215 | 0.0047 | 924 | c.901 others(939): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150659 | C | CGCCGCCT others(917): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 267 | 0.0037 | 924 | c.902 others(939): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150716 | A | ATACCACA others(917): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 266 | 0.0038 | 924 | c.902 others(939): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(917): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 135 | 0.0074 | 924 | c.*31 others(935): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(917): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 2 | 0.5000 | 924 | c.734 others(941): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45923808 | A | ATCGGGTG others(917): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 282 | 0.0035 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924018 | C | CGAGGAGA others(917): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0287 a0001c0001t0002g0260 |
2 | 169 | 0.0118 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924018 | C | CGAGGAGA others(917): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 168 | 0.0060 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924035 | C | CGGGAACA others(917): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 261 | 0.0038 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924490 | C | CGAACACT others(917): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0231 | 1 | 232 | 0.0043 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924575 | A | AGTGGGTA others(917): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 185 | 0.0054 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(917): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 242 | 0.0041 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(917): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 242 | 0.0041 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |