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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SARDH_chr9_133658560_133743352 | 133668510 | T | TCCCTCAC others(488): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0222 | 1 | 248 | 0.0040 | 495 | c.249 others(514): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1289747 | C | CCGTGTCC others(488): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0064 | 1 | 267 | 0.0037 | 495 | c.166 others(512): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4146275 | C | CCTGCTCT others(488): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02965.hp2 HG03471.hp1 others(1): Show |
a0001a0034 | a0001c0031a0001c0040a0001c0060others(1): Show | a0001c0031t0001a0001c0040t0001a0001c0060t0041others(1): Show | a0001c0031t0001g0018 a0001c0040t0001g0040 a0001c0060t0041g0080 others(1): Show |
4 | 115 | 0.0348 | 495 | c.442 others(512): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 29/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4146431 | T | TCAGACAT others(488): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02976.hp2 |
a0001 | a0001c0014 | a0001c0014t0018 | a0001c0014t0018g0060 a0001c0014t0018g0062 |
2 | 109 | 0.0183 | 495 | c.442 others(512): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 29/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4264120 | T | TGAGGAGG others(488): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01516.hp2 HG03209.hp1 |
a0001a0003 | a0001c0032a0001c0046a0003c0001 | a0001c0032t0058a0001c0046t0022a0003c0001t0059 | a0001c0032t0058g0043 a0001c0046t0022g0091 a0003c0001t0059g0026 |
3 | 110 | 0.0273 | 495 | c.638 others(514): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77484808 | G | GTGATTGT others(488): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0010 | 1 | 117 | 0.0085 | 495 | c.859 others(512): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(488): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0339 | 1 | 259 | 0.0039 | 495 | c.101 others(514): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(488): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0279 | 1 | 322 | 0.0031 | 495 | c.101 others(514): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431840 | A | ATAGGGTG others(488): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0243 | 1 | 351 | 0.0028 | 495 | c.101 others(514): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431940 | T | TAGGGTGG others(488): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0085 | 1 | 342 | 0.0029 | 495 | c.101 others(514): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432011 | A | ATAGGGTG others(488): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0182 | 1 | 337 | 0.0030 | 495 | c.101 others(512): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1739862 | C | CAGGGAGT others(488): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0072 | 1 | 387 | 0.0026 | 495 | c.-30 others(506): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3008 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740423 | G | GTGAGGGT others(488): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 NA18955.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 3 | 356 | 0.0084 | 495 | c.-24 others(506): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2447 | chr17 | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2280735 | G | GGACGCCC others(488): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0269 | 1 | 132 | 0.0076 | 495 | c.970 others(514): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(488): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0062 | 1 | 25 | 0.0400 | 495 | c.914 others(514): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(488): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0167 | 1 | 25 | 0.0400 | 495 | c.914 others(514): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(488): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02809.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0003t0006 | a0001c0001t0001g0111 a0001c0001t0011g0200 a0001c0003t0006g0046 |
3 | 27 | 0.1111 | 495 | c.914 others(514): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(488): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0012 | a0001c0012t0051 | a0001c0012t0051g0221 | 1 | 25 | 0.0400 | 495 | c.914 others(514): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(488): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 25 | 0.0400 | 495 | c.914 others(514): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(488): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG01981.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0002a0001c0003t0006a0002c0005t0049 | a0001c0002t0002g0110 a0001c0002t0002g0169 a0001c0003t0006g0146 others(1): Show |
4 | 28 | 0.1429 | 495 | c.914 others(514): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(488): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0155 | 1 | 25 | 0.0400 | 495 | c.914 others(514): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(488): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0106 | 1 | 25 | 0.0400 | 495 | c.914 others(514): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC24A3_chr20_19207642_19727926 | 19663413 | C | CTCCTCCT others(488): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0006 | a0006c0020 | a0006c0020t0002 | a0006c0020t0002g0046 | 1 | 89 | 0.0112 | 495 | c.688 others(512): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC24A3_chr20_19207642_19727926 | 19663413 | C | CTCCTCCT others(488): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01257.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0003t0012others(9): Show | a0001c0001t0002g0014 a0001c0001t0002g0052 a0001c0003t0002g0009 others(17): Show |
20 | 108 | 0.1852 | 495 | c.688 others(512): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC24A3_chr20_19207642_19727926 | 19663413 | C | CTCCTCCT others(488): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0008 | 1 | 89 | 0.0112 | 495 | c.688 others(512): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC24A3_chr20_19207642_19727926 | 19663437 | C | CTCCTCCA others(488): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01243.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(6): Show | a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0006g0116 others(7): Show |
10 | 98 | 0.1020 | 495 | c.688 others(512): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC2A8_chr9_127392169_127412898 | 127408233 | C | CCACTGTA others(488): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0108 | 1 | 238 | 0.0042 | 495 | c.*98 others(504): Show |
SLC2A8 | ENSG00000136856.18 | transcript | ENST00000373371.8 | protein_coding | 336 | chr9 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827465 | A | AATATATT others(488): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 212 | 0.0047 | 495 | c.12+ others(510): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827465 | A | AATATATT others(488): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 212 | 0.0047 | 495 | c.12+ others(510): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(488): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 82 | 0.0122 | 495 | c.12+ others(510): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31807415 | G | GGAGGGGA others(488): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0233 | 1 | 256 | 0.0039 | 495 | c.138 others(514): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82846187 | T | TCCCTCCA others(488): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0028 | a0001c0001t0002a0001c0028t0002 | a0001c0001t0002g0045 a0001c0028t0002g0041 |
2 | 248 | 0.0081 | 495 | c.131 others(516): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TNFRSF18_chr1_1198508_1211592 | 1201788 | A | AGCCCCGA others(488): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 384 | 0.0026 | 495 | c.*20 others(506): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1719 | chr1 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1201788 | A | AGCCCCGA others(488): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0024 | a0001c0024t0006 | a0001c0024t0006g0073 | 1 | 380 | 0.0026 | 495 | c.*39 others(506): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 3853 | chr1 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131918738 | T | TGGGGTGT others(488): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 340 | 0.0029 | 495 | c.251 others(510): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467381 | A | AATAGGTG others(488): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0005 | 1 | 219 | 0.0046 | 495 | c.*99 others(504): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 872 | chrX | TogoVar | |||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(488): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 33 | 0.0303 | 495 | c.53- others(508): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(488): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0111 | 1 | 33 | 0.0303 | 495 | c.53- others(508): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(488): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 33 | 0.0303 | 495 | c.53- others(508): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1739862 | C | CAGGGAGT others(488): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0002 | 1 | 376 | 0.0027 | 495 | c.*21 others(506): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1278 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1740423 | G | GTGAGGGT others(488): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 NA18955.hp2 |
a0002a0006 | a0002c0001a0006c0025 | a0002c0001t0002a0006c0025t0002 | a0002c0001t0002g0041 a0006c0025t0002g0004 |
2 | 344 | 0.0058 | 495 | c.*27 others(506): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1839 | chr17 | TogoVar | |||||||
WWP2_chr16_69757332_69946739 | 69820781 | T | TGGTCGAG others(488): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0252 | 1 | 241 | 0.0041 | 495 | c.341 others(514): Show |
WWP2 | ENSG00000198373.13 | transcript | ENST00000359154.7 | protein_coding | 4/23 | chr16 | TogoVar | |||||||
ZFAND3_chr6_37814727_38159624 | 38041641 | T | TTCTTCTT others(488): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0263 | 1 | 316 | 0.0032 | 495 | c.113 others(514): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZNF16_chr8_144925358_144955880 | 144947374 | T | TTGGGCCT others(488): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0269 | 1 | 402 | 0.0025 | 495 | c.-9- others(510): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370767 | C | CATATATA others(488): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 1 | 328 | 0.0030 | 495 | c.-37 others(506): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3601 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370969 | G | GATATATA others(488): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 | 1 | 253 | 0.0040 | 495 | c.-35 others(506): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | |||||||
ZNF862_chr7_149833375_149872479 | 149858844 | A | AGGCCAGC others(488): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 377 | 0.0027 | 495 | c.111 others(512): Show |
ZNF862 | ENSG00000106479.11 | transcript | ENST00000223210.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF862_chr7_149833375_149872479 | 149859070 | C | CGCGTGGG others(488): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0061 | 1 | 202 | 0.0050 | 495 | c.111 others(512): Show |
ZNF862 | ENSG00000106479.11 | transcript | ENST00000223210.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48443861 | T | TCCTCTTT others(489): Show |
intron_variant | MODIFIER | NA18977.hp1 NA19007.hp1 NA19083.hp2 |
a0001a0029 | a0001c0001a0029c0096a0029c0097 | a0001c0001t0001a0029c0096t0001a0029c0097t0001 | a0001c0001t0001g0082 a0029c0096t0001g0053 a0029c0097t0001g0084 |
3 | 118 | 0.0254 | 496 | c.125 others(519): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42293072 | C | CACACACC others(489): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0089 | 1 | 125 | 0.0080 | 496 | c.165 others(515): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |