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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TARBP1_chr1_234386313_234484179 | 234397817 | G | GAAGGGGA others(198): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0058 | a0002c0058t0001 | a0002c0058t0001g0103 | 1 | 274 | 0.0037 | 205 | c.424 others(222): Show |
TARBP1 | ENSG00000059588.10 | transcript | ENST00000040877.2 | protein_coding | 26/29 | chr1 | TogoVar | ||||||
TBC1D16_chr17_79927343_80040872 | 79929984 | C | CCCTCTCC others(198): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0117 | 1 | 334 | 0.0030 | 205 | c.*10 others(218): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2358 | chr17 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46859578 | T | TTTTCGAT others(198): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0023 | 1 | 112 | 0.0089 | 205 | c.638 others(224): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46859578 | T | TTTTCGAT others(198): Show |
intron_variant | MODIFIER | HG01361.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0018a0001c0001t0003g0081 | 2 | 112 | 0.0179 | 205 | c.638 others(224): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46860117 | C | CGTGCCCC others(198): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 112 | 0.0089 | 205 | c.638 others(224): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46860251 | G | GATAGAGG others(198): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03516.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0009 | a0001c0001t0005g0002a0002c0003t0009g0034 | 2 | 112 | 0.0179 | 205 | c.638 others(224): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TCF25_chr16_89868592_89916379 | 89907753 | G | GTTTCCAC others(198): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 300 | 0.0033 | 205 | c.179 others(222): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | chr16 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629105 | C | CAGGGGGT others(198): Show |
intron_variant | MODIFIER | HG02071.hp1 NA19005.hp2 |
a0001 | a0001c0007 | a0001c0007t0002a0001c0007t0012 | a0001c0007t0002g0127a0001c0007t0012g0323 | 2 | 352 | 0.0057 | 205 | c.299 others(222): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629106 | G | GGGGGTGG others(198): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0224 | 1 | 352 | 0.0028 | 205 | c.299 others(222): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629106 | G | GGGGGTGG others(198): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19065.hp2 NA19077.hp1 |
a0002 | a0002c0001 | a0002c0001t0007a0002c0001t0084 | a0002c0001t0007g0064a0002c0001t0007g0071a0002c0001t0084g0290 | 3 | 352 | 0.0085 | 205 | c.299 others(222): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TENT5A_chr6_81740730_81757681 | 81740783 | A | AATATGTA others(198): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 1 | 446 | 0.0022 | 205 | c.*89 others(216): Show |
TENT5A | ENSG00000112773.16 | transcript | ENST00000320172.11 | protein_coding | 4946 | chr6 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273495 | G | GACTGCCA others(198): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 392 | 0.0026 | 205 | c.228 others(224): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TFCP2L1_chr2_121211587_121290202 | 121225942 | T | TACACACA others(198): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0338 | 1 | 378 | 0.0027 | 205 | c.134 others(222): Show |
TFCP2L1 | ENSG00000115112.8 | transcript | ENST00000263707.6 | protein_coding | 13/14 | chr2 | TogoVar | ||||||
THBS3_chr1_155190588_155212897 | 155190864 | T | TCCGGGGC others(198): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 298 | 0.0034 | 205 | c.*49 others(216): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4723 | chr1 | TogoVar | ||||||
THBS3_chr1_155190588_155212897 | 155190864 | T | TCCGGGGC others(198): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 298 | 0.0034 | 205 | c.*49 others(216): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4723 | chr1 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376743 | T | TGTGCCCC others(198): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0092 | 1 | 370 | 0.0027 | 205 | c.-77 others(214): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 718 | chr19 | TogoVar | ||||||
TIMM22_chr17_992129_1008671 | 993519 | C | CCCTCACG others(198): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 NA18612.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0028 | a0001c0001t0005g0028a0001c0001t0028g0028 | 3 | 439 | 0.0068 | 205 | c.-36 others(216): Show |
TIMM22 | ENSG00000177370.5 | transcript | ENST00000327158.5 | protein_coding | 3609 | chr17 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3438190 | T | TCCCCCAA others(198): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 344 | 0.0029 | 205 | c.141 others(224): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRIM24_chr7_138455259_138594996 | 138531246 | A | ATGTTACA others(198): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0056 | a0001c0004t0056g0008 | 1 | 312 | 0.0032 | 205 | c.996 others(222): Show |
TRIM24 | ENSG00000122779.18 | transcript | ENST00000343526.9 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TSNARE1_chr8_142207080_142408182 | 142348476 | C | CAAGCTGG others(198): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0234 | 1 | 238 | 0.0042 | 205 | c.89- others(220): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 2/13 | chr8 | TogoVar | ||||||
TUBB3_chr16_89918342_89941097 | 89934129 | C | CCTGTGTC others(198): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 398 | 0.0025 | 205 | c.278 others(220): Show |
TUBB3 | ENSG00000258947.8 | transcript | ENST00000315491.12 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
VPS53_chr17_503668_719839 | 649137 | T | TGAAGATC others(198): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0117 | 1 | 232 | 0.0043 | 205 | c.608 others(222): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 649137 | T | TGAAGATC others(198): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(21): Show | a0001c0001t0002g0121a0001c0001t0002g0128a0001c0001t0002g0133others(37): Show | 40 | 232 | 0.1724 | 205 | c.608 others(222): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 649137 | T | TGAAGATC others(198): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02602.hp1 HG03516.hp2 others(6): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0078a0001c0005t0010a0001c0005t0019others(4): Show | a0001c0002t0078g0041a0001c0005t0010g0008a0001c0005t0019g0006others(6): Show | 9 | 232 | 0.0388 | 205 | c.608 others(222): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 649137 | T | TGAAGATC others(198): Show |
intron_variant | MODIFIER | HG01074.hp2 NA18747.hp2 NA18955.hp2 others(2): Show |
a0001 | a0001c0002a0001c0005a0001c0011 | a0001c0002t0001a0001c0002t0065a0001c0002t0077others(2): Show | a0001c0002t0001g0094a0001c0002t0065g0093a0001c0002t0077g0095others(2): Show | 5 | 232 | 0.0216 | 205 | c.608 others(222): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895600 | C | CCCCCCCT others(198): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0272 | 1 | 274 | 0.0037 | 205 | c.200 others(222): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VPS8_chr3_184807166_185057604 | 184895628 | C | CCCCCCCT others(198): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0009 | a0009c0017 | a0009c0017t0001 | a0009c0017t0001g0250 | 1 | 274 | 0.0037 | 205 | c.200 others(222): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VPS8_chr3_184807166_185057604 | 184895628 | C | CCCCCCCT others(198): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0075 | 1 | 274 | 0.0037 | 205 | c.200 others(222): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VPS8_chr3_184807166_185057604 | 184895628 | C | CCCCCCCT others(198): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 | 1 | 274 | 0.0037 | 205 | c.200 others(222): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VRK2_chr2_58041806_58164871 | 58137172 | T | TCATATAT others(198): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 340 | 0.0029 | 205 | c.856 others(222): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
WDPCP_chr2_63114559_63593477 | 63575479 | G | GTGTATAC others(198): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 216 | 0.0046 | 205 | c.75+ others(222): Show |
WDPCP | ENSG00000143951.16 | transcript | ENST00000272321.12 | protein_coding | 1/17 | chr2 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024623 | A | AACTATGA others(198): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0047 | 1 | 144 | 0.0069 | 205 | c.427 others(224): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | chr18 | TogoVar | ||||||
WRAP73_chr1_3625770_3655103 | 3643567 | T | TGAGCCCC others(198): Show |
intron_variant | MODIFIER | HG02602.hp2 HG04184.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 2 | 382 | 0.0052 | 205 | c.339 others(222): Show |
WRAP73 | ENSG00000116213.16 | transcript | ENST00000270708.12 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
XRCC2_chr7_152639776_152681141 | 152674684 | A | AATATATT others(198): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02109.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0045a0001c0001t0046others(1): Show | a0001c0001t0027g0197a0001c0001t0045g0195a0001c0001t0046g0196others(1): Show | 4 | 394 | 0.0102 | 205 | c.39+ others(220): Show |
XRCC2 | ENSG00000196584.4 | transcript | ENST00000359321.2 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
ZC3H14_chr14_88558037_88632596 | 88608210 | T | TACCCTGC others(198): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 314 | 0.0032 | 205 | c.186 others(222): Show |
ZC3H14 | ENSG00000100722.20 | transcript | ENST00000251038.10 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ZMAT4_chr8_40525590_40902826 | 40792643 | G | GGAGGGGA others(198): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(55): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0022others(55): Show | 58 | 228 | 0.2544 | 205 | c.103 others(224): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
ZMAT4_chr8_40525590_40902826 | 40792643 | G | GGAGGGGA others(198): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0184 | 1 | 228 | 0.0044 | 205 | c.103 others(224): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
ZNF253_chr19_19860882_19899674 | 19891007 | A | ATTTTTTT others(198): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0216a0001c0001t0003g0023 | 2 | 370 | 0.0054 | 205 | c.227 others(220): Show |
ZNF253 | ENSG00000256771.5 | transcript | ENST00000589717.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF652_chr17_49284206_49367250 | 49348479 | A | AAAAAGAA others(198): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0047a0001c0001t0012g0049 | 2 | 382 | 0.0052 | 205 | c.-25 others(226): Show |
ZNF652 | ENSG00000198740.9 | transcript | ENST00000430262.3 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
ZSCAN5A_chr19_56216303_56319839 | 56302581 | C | CTCCCTCC others(198): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 362 | 0.0028 | 205 | c.-12 others(226): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1164197 | G | GCCCCAGA others(199): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0034others(1): Show | a0001c0001t0001g0133a0001c0001t0008g0012a0001c0001t0034g0003others(1): Show | 4 | 337 | 0.0119 | 206 | c.61+ others(223): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288299 | G | GTCTCTGC others(199): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 295 | 0.0034 | 206 | c.*52 others(217): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4091 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288993 | T | TCCGTCCC others(199): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 295 | 0.0034 | 206 | c.*45 others(217): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3397 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289035 | C | CCGTGTCT others(199): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0179 | 1 | 295 | 0.0034 | 206 | c.*45 others(217): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3355 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289516 | T | TCCCTGCT others(199): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 295 | 0.0034 | 206 | c.*40 others(217): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2874 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289615 | T | TCCCCCGT others(199): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 295 | 0.0034 | 206 | c.*39 others(217): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2775 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1290128 | C | CCCCGAGT others(199): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 295 | 0.0034 | 206 | c.*34 others(217): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2262 | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17814510 | T | TGTAGCAT others(199): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0241 | 2 | 366 | 0.0055 | 206 | c.-24 others(223): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17814510 | T | TGTAGCAT others(199): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01261.hp1 HG02080.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0003c0007t0001 | a0001c0001t0001g0101a0001c0001t0002g0021a0001c0001t0002g0057others(6): Show | 9 | 366 | 0.0246 | 206 | c.-24 others(223): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTRT3_chr3_169761921_169774561 | 169770756 | T | TTATATAT others(199): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 206 | c.-12 others(217): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1196 | chr3 | TogoVar |