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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCZ1B_chr7_6793937_6831275 | 6797864 | A | ATACACAC others(164): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 HG03486.hp2 HG03579.hp1 |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0006a0003c0004t0006g0034 | 3 | 354 | 0.0085 | 171 | c.*13 others(182): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 1072 | chr7 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231068 | C | CTGCTGCT others(164): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 380 | 0.0026 | 171 | c.-40 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3828 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231078 | A | AGGTGGGG others(164): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0215 | 1 | 380 | 0.0026 | 171 | c.-40 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3818 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231135 | C | CGGTGGGG others(164): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 380 | 0.0026 | 171 | c.-39 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3761 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231224 | C | CGGGTGGA others(164): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 NA19057.hp1 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | 380 | 0.0079 | 171 | c.-38 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3672 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231224 | C | CGGGTGGA others(164): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 380 | 0.0026 | 171 | c.-38 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3672 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231224 | C | GGGGTGGA others(164): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 380 | 0.0026 | 171 | c.-38 others(181): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3673 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231249 | C | CGGTGGGG others(164): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 HG02135.hp2 HG03688.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0085a0001c0001t0001g0105others(4): Show | 8 | 380 | 0.0211 | 171 | c.-38 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3647 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231249 | C | CGGTGGGG others(164): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 380 | 0.0026 | 171 | c.-38 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3647 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231363 | A | AGGTGGGG others(164): Show |
upstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 380 | 0.0026 | 171 | c.-37 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3533 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231406 | C | CCCATTGC others(164): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 380 | 0.0026 | 171 | c.-36 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3490 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231420 | C | CGGTGGGG others(164): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0036others(6): Show | 12 | 380 | 0.0316 | 171 | c.-36 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3476 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231420 | C | CGGTGGGG others(164): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0022 | 2 | 380 | 0.0053 | 171 | c.-36 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3476 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231420 | C | CGGTGGGG others(164): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00621.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0013others(23): Show | 44 | 380 | 0.1158 | 171 | c.-36 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3476 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231420 | C | CGGTGGGG others(164): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 HG03710.hp2 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0041 | 3 | 380 | 0.0079 | 171 | c.-36 others(182): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3476 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114238070 | A | ACCCAGCA others(164): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01496.hp2 others(9): Show |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0006 | a0001c0005t0005g0005a0001c0005t0006g0020a0001c0005t0006g0078others(2): Show | 12 | 380 | 0.0316 | 171 | c.202 others(186): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61383126 | A | ATATATAT others(164): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01978.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(11): Show | a0001c0001t0001g0032a0001c0001t0001g0046a0001c0001t0002g0060others(12): Show | 15 | 106 | 0.1415 | 171 | c.169 others(192): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | chr20 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881816 | C | CTATATAG others(164): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0006 | a0006c0008 | a0006c0008t0006 | a0006c0008t0006g0080 | 1 | 440 | 0.0023 | 171 | c.*13 others(182): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 462 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881816 | C | CTATATAG others(164): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0006 | a0006c0008 | a0006c0008t0006 | a0006c0008t0006g0083 | 1 | 440 | 0.0023 | 171 | c.*13 others(182): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 462 | chr13 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181606461 | A | AGGGGAGG others(164): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0150a0001c0001t0001g0158a0001c0001t0001g0159others(13): Show | 16 | 298 | 0.0537 | 171 | c.239 others(188): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46680586 | C | CCACCCAC others(164): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 340 | 0.0029 | 171 | c.*65 others(182): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3823 | chr22 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296024 | T | TGCCTGCC others(164): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG03130.hp2 others(2): Show |
a0005a0013a0017 | a0005c0013a0005c0025a0013c0021others(1): Show | a0005c0013t0002a0005c0013t0003a0005c0025t0005others(2): Show | a0005c0013t0002g0047a0005c0013t0003g0048a0005c0025t0005g0140others(2): Show | 5 | 236 | 0.0212 | 171 | c.321 others(190): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320401 | G | GTAATATA others(164): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 HG03209.hp1 others(1): Show |
a0001a0018 | a0001c0001a0001c0003a0018c0036 | a0001c0001t0003a0001c0003t0003a0001c0003t0004others(1): Show | a0001c0001t0003g0127a0001c0003t0003g0142a0001c0003t0004g0005others(1): Show | 4 | 236 | 0.0170 | 171 | c.342 others(192): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320401 | G | GTAATATA others(164): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01099.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0216a0002c0002t0002g0197 | 2 | 236 | 0.0085 | 171 | c.342 others(192): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320401 | G | GTAATATA others(164): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 236 | 0.0042 | 171 | c.342 others(192): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74579203 | G | GCCTTCCC others(164): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0266 | 1 | 390 | 0.0026 | 171 | c.116 others(188): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNR2_chr1_23865515_23918362 | 23899907 | G | GAAAGAAA others(164): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 268 | 0.0037 | 171 | c.-46 others(190): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899941 | G | GAAAGAAA others(164): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0172 | 1 | 268 | 0.0037 | 171 | c.-46 others(190): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899941 | G | GAAAGAAA others(164): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0205 | 1 | 268 | 0.0037 | 171 | c.-46 others(190): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899941 | G | GAAAGAAA others(164): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0096 | 1 | 268 | 0.0037 | 171 | c.-46 others(190): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899941 | G | GAAAGAAA others(164): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 268 | 0.0037 | 171 | c.-46 others(190): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899941 | G | GGAAGGAA others(164): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0161 | 1 | 268 | 0.0037 | 171 | c.-46 others(190): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899941 | G | GGAAGGAA others(164): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 268 | 0.0037 | 171 | c.-46 others(190): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899941 | G | GGAAGGAA others(164): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02074.hp1 HG02129.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0014 | a0001c0001t0001g0069a0001c0001t0001g0099a0001c0001t0003g0026others(1): Show | 4 | 268 | 0.0149 | 171 | c.-46 others(190): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45501954 | C | CTCCACAG others(164): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0224 | 1 | 292 | 0.0034 | 171 | c.268 others(190): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45501954 | C | CTCCACAG others(164): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 292 | 0.0034 | 171 | c.268 others(190): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | chr21 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(164): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0207 | 1 | 344 | 0.0029 | 171 | c.85- others(188): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134829398 | A | AGGCTCCT others(164): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18943.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0171a0001c0002t0005g0025 | 2 | 272 | 0.0074 | 171 | c.506 others(188): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587330 | G | GCCCCGCC others(164): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0305 | 1 | 348 | 0.0029 | 171 | c.927 others(186): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587330 | G | GCCCCGCC others(164): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 348 | 0.0029 | 171 | c.927 others(186): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587330 | G | GCCCCGCC others(164): Show |
intron_variant | MODIFIER | NA18950.hp2 NA20752.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0301a0002c0004t0002g0324 | 2 | 348 | 0.0058 | 171 | c.927 others(186): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPSF3_chr2_9418654_9478101 | 9428157 | T | TGGCTAAT others(164): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0145a0001c0001t0001g0147others(2): Show | 5 | 230 | 0.0217 | 171 | c.51- others(184): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CRELD2_chr22_49913634_49932537 | 49917986 | A | AGCCCCAG others(164): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0034 | 1 | 324 | 0.0031 | 171 | c.-78 others(180): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 647 | chr22 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49917986 | A | AGCCCCAG others(164): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0184 | 1 | 324 | 0.0031 | 171 | c.-78 others(180): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 647 | chr22 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49917986 | A | AGCCCCAG others(164): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG01891.hp2 others(6): Show |
a0002 | a0002c0005a0002c0014a0002c0015 | a0002c0005t0002a0002c0014t0002a0002c0015t0002 | a0002c0005t0002g0015a0002c0005t0002g0186a0002c0005t0002g0187others(4): Show | 9 | 324 | 0.0278 | 171 | c.-78 others(180): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 647 | chr22 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49917986 | A | AGCCCCAG others(164): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02080.hp2 NA18990.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0035a0001c0003t0002g0197a0001c0003t0002g0200others(1): Show | 5 | 324 | 0.0154 | 171 | c.-78 others(180): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 647 | chr22 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49917986 | A | AGCCCCAG others(164): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01074.hp2 others(40): Show |
a0001a0004 | a0001c0003a0001c0007a0001c0018others(2): Show | a0001c0003t0002a0001c0007t0002a0001c0018t0002others(4): Show | a0001c0003t0002g0014a0001c0003t0002g0155a0001c0003t0002g0156others(36): Show | 43 | 324 | 0.1327 | 171 | c.-78 others(180): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 647 | chr22 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49917993 | G | GGTGAGAG others(164): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01515.hp1 |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0202a0005c0008t0002g0203a0005c0008t0002g0206 | 3 | 324 | 0.0093 | 171 | c.-77 others(180): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 640 | chr22 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36392459 | T | TTTTTTTT others(164): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0015 | a0001c0015t0083 | a0001c0015t0083g0242 | 1 | 324 | 0.0031 | 171 | c.332 others(188): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924656 | C | CCCCCACA others(164): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0037 | 1 | 350 | 0.0029 | 171 | c.489 others(188): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |