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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHACTR4_chr1_28364740_28505364 | 28391165 | C | CGAGGTGG others(782): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG02451.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0042 | a0002c0002t0002g0209 a0002c0002t0003g0144 a0002c0002t0003g0158 others(9): Show |
12 | 226 | 0.0531 | 789 | c.-38 others(808): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(782): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0164 | 1 | 4 | 0.2500 | 789 | c.328 others(808): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBBP8_chr18_22928328_23031486 | 23022671 | A | AATAAAAT others(782): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0286 | 1 | 325 | 0.0031 | 789 | c.259 others(806): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | chr18 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(782): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0033 | 1 | 2 | 0.5000 | 789 | c.-12 others(808): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 432986 | T | TAGATGGC others(782): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0033 | 1 | 190 | 0.0053 | 789 | c.111 others(808): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SLC16A3_chr17_82224042_82245086 | 82227685 | C | CACCACCC others(782): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 375 | 0.0027 | 789 | c.-14 others(800): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 1356 | chr17 | TogoVar | |||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(782): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 2 | 0.5000 | 789 | c.624 others(804): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(782): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0093 | 1 | 2 | 0.5000 | 789 | c.227 others(808): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637266 | A | AATATATA others(782): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 | 1 | 258 | 0.0039 | 789 | c.*71 others(800): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3732 | chr10 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(782): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0033 | a0033c0048 | a0033c0048t0006 | a0033c0048t0006g0154 | 1 | 90 | 0.0111 | 789 | c.272 others(808): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(782): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0004 | a0004c0003 | a0004c0003t0028 | a0004c0003t0028g0349 | 1 | 90 | 0.0111 | 789 | c.272 others(808): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(782): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01070.hp1 others(52): Show |
a0001a0002a0003others(8): Show | a0001c0032a0001c0085a0001c0096others(18): Show | a0001c0032t0213a0001c0085t0212a0001c0096t0050others(40): Show | a0001c0032t0213g0364 a0001c0085t0212g0071 a0001c0096t0050g0314 others(52): Show |
55 | 144 | 0.3819 | 789 | c.272 others(808): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(782): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0006 | a0006c0025 | a0006c0025t0055 | a0006c0025t0055g0160 a0006c0025t0055g0161 |
2 | 91 | 0.0220 | 789 | c.272 others(808): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(782): Show |
intron_variant | MODIFIER | NA19004.hp2 NA19064.hp1 |
a0002a0005 | a0002c0007a0005c0008 | a0002c0007t0125a0005c0008t0006 | a0002c0007t0125g0290 a0005c0008t0006g0185 |
2 | 91 | 0.0220 | 789 | c.272 others(808): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628838 | C | CAGGGGAT others(782): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0193 | 1 | 156 | 0.0064 | 789 | c.299 others(806): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(782): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 3 | 84 | 0.0357 | 789 | c.*62 others(800): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169242624 | C | CCTTCCCA others(782): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0295 | 1 | 359 | 0.0028 | 789 | c.695 others(804): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376716 | G | GTGTGCCC others(782): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 205 | 0.0049 | 789 | c.-74 others(798): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 691 | chr19 | TogoVar | |||||||
TMEM239_chr20_2811364_2823062 | 2823000 | G | GTCTCCCT others(782): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 381 | 0.0026 | 789 | c.*59 others(800): Show |
TMEM239 | ENSG00000198326.10 | transcript | ENST00000380585.2 | protein_coding | 4939 | chr20 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930878 | G | GGGGTTAG others(782): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0060 | 1 | 371 | 0.0027 | 789 | c.*47 others(800): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4491 | chr11 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(782): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0046 | 1 | 87 | 0.0115 | 789 | c.41- others(806): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917079 | G | GGCTCGGA others(782): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299 | 1 | 342 | 0.0029 | 789 | c.218 others(804): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196786 | A | ATATATAT others(782): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0179 | 1 | 3 | 0.3333 | 789 | c.213 others(808): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(782): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01261.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0042 |
4 | 5 | 0.8000 | 789 | c.*53 others(800): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169240 | C | CCCTCCCT others(782): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 108 | 0.0093 | 789 | c.*79 others(798): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 703 | chrX | TogoVar | |||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(782): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 9 | 0.1111 | 789 | c.4-1 others(802): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(782): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0049 | 1 | 183 | 0.0055 | 789 | c.-42 others(800): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172204 | A | ATAAATGA others(783): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 207 | 0.0048 | 790 | c.278 others(809): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173281 | C | CCCACCCA others(783): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18945.hp1 NA19007.hp1 |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0002a0001c0001t0026a0004c0011t0009 | a0001c0001t0002g0103 a0001c0001t0026g0029 a0004c0011t0009g0028 |
3 | 309 | 0.0097 | 790 | c.61+ others(805): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACP3_chr3_132312407_132363841 | 132323450 | C | CAAAAAAT others(783): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0155 | 1 | 366 | 0.0027 | 790 | c.121 others(807): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(783): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 30 | 0.0333 | 790 | c.505 others(809): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(783): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(63): Show | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 others(170): Show |
176 | 192 | 0.9167 | 790 | c.-47 others(809): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(783): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0041 | a0001c0001t0003g0306 a0001c0001t0041g0231 |
2 | 18 | 0.1111 | 790 | c.-47 others(809): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(783): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02970.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0032a0001c0002t0046 | a0001c0002t0008g0036 a0001c0002t0008g0037 a0001c0002t0008g0038 others(3): Show |
6 | 22 | 0.2727 | 790 | c.-47 others(809): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(783): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0069 | a0001c0001t0002g0235 a0001c0002t0069g0234 |
2 | 18 | 0.1111 | 790 | c.-47 others(809): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(783): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0117 | 1 | 17 | 0.0588 | 790 | c.-47 others(809): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(783): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 17 | 0.0588 | 790 | c.-47 others(809): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(783): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0004 | a0004c0011 | a0004c0011t0045 | a0004c0011t0045g0253 | 1 | 17 | 0.0588 | 790 | c.-47 others(809): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(783): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01167.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0001t0019others(16): Show | a0001c0001t0006g0282 a0001c0001t0009g0001 a0001c0001t0009g0141 others(34): Show |
39 | 55 | 0.7091 | 790 | c.-47 others(809): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156162 | T | CCCATCCA others(783): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0016 | a0001c0002t0018a0001c0002t0071a0002c0016t0072 | a0001c0002t0018g0042 a0001c0002t0018g0043 a0001c0002t0018g0044 others(2): Show |
5 | 338 | 0.0148 | 790 | c.-47 others(809): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | chr21 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45156162 | T | CCCATCCA others(783): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 |
a0001 | a0001c0002 | a0001c0002t0054a0001c0002t0060 | a0001c0002t0054g0121 a0001c0002t0060g0033 |
2 | 335 | 0.0060 | 790 | c.-47 others(809): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | chr21 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(783): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0084 | 1 | 7 | 0.1429 | 790 | c.775 others(805): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(783): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0176 | 1 | 7 | 0.1429 | 790 | c.775 others(805): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(783): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0224 | 1 | 205 | 0.0049 | 790 | c.411 others(807): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(783): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0003 | a0003c0015 | a0003c0015t0002 | a0003c0015t0002g0193 | 1 | 205 | 0.0049 | 790 | c.411 others(807): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CDC34_chr19_526760_547087 | 540649 | C | CCCCCAGG others(783): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 322 | 0.0062 | 790 | c.498 others(805): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939818 | A | AAGAAAGA others(783): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0137 | 1 | 169 | 0.0059 | 790 | c.403 others(805): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(783): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 a0001c0002t0002g0156 |
2 | 151 | 0.0132 | 790 | c.223 others(811): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500581 | G | GGTGTGTT others(783): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0004 | a0004c0073 | a0004c0073t0002 | a0004c0073t0002g0274 | 1 | 278 | 0.0036 | 790 | c.268 others(809): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(783): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0103 | a0003c0103t0001 | a0003c0103t0001g0238 | 1 | 180 | 0.0056 | 790 | c.85- others(807): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar |