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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UCN3_chr10_5359966_5379692 | 5369903 | G | GTGTGTGT others(169): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0185 | 1 | 468 | 0.0021 | 176 | c.-6- others(191): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370842 | T | TGTATATG others(169): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0186 | 1 | 468 | 0.0021 | 176 | c.-6- others(191): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNG_chr12_109092597_109115992 | 109106907 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 452 | 0.0022 | 176 | c.802 others(193): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UVSSA_chr4_1342208_1393049 | 1372729 | A | AGCACTCA others(169): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0007 | a0003c0007t0037 | a0003c0007t0037g0106 | 1 | 400 | 0.0025 | 176 | c.128 others(195): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466726 | G | GTGGGGAG others(169): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0000 | a0000c0038 | a0000c0038t0002 | a0000c0038t0002g0006 | 1 | 271 | 0.0037 | 176 | c.*34 others(185): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 217 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8466850 | A | AGGGAGGG others(169): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 | a0023 | a0023c0026 | a0023c0026t0002 | a0023c0026t0002g0006 | 1 | 271 | 0.0037 | 176 | c.*46 others(185): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 341 | chrX | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844213 | A | AGGGAGGG others(169): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0001 | 1 | 341 | 0.0029 | 176 | c.*19 others(185): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 71 | chrX | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844333 | G | GGGGAGGG others(169): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0002 | 1 | 341 | 0.0029 | 176 | c.*31 others(185): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 191 | chrX | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844337 | A | AGGGAGGG others(169): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0010 | a0010c0012 | a0010c0012t0003 | a0010c0012t0003g0002 | 1 | 341 | 0.0029 | 176 | c.*32 others(185): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 195 | chrX | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CGATAGAT others(169): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 408 | 0.0025 | 176 | c.53+ others(191): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895628 | C | CCCCCCTC others(169): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 274 | 0.0037 | 176 | c.200 others(193): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
WDPCP_chr2_63114559_63593477 | 63575425 | A | ACACTGTA others(169): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0120 | 1 | 216 | 0.0046 | 176 | c.75+ others(193): Show |
WDPCP | ENSG00000143951.16 | transcript | ENST00000272321.12 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
WDR20_chr14_102134897_102215527 | 102189055 | C | CAAAAAAT others(169): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18973.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0153 a0001c0002t0002g0159 |
2 | 264 | 0.0076 | 176 | c.250 others(193): Show |
WDR20 | ENSG00000140153.18 | transcript | ENST00000342702.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR87_chr19_37879823_37911594 | 37881047 | A | ATATATAA others(169): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0042 | a0042c0030 | a0042c0030t0002 | a0042c0030t0002g0078 | 1 | 330 | 0.0030 | 176 | c.*38 others(187): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3775 | chr19 | TogoVar | |||||||
XG_chrX_2747040_2821500 | 2773569 | A | AGGAAGGA others(169): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0128 | 1 | 322 | 0.0031 | 176 | c.104 others(193): Show |
XG | ENSG00000124343.14 | transcript | ENST00000644266.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
XG_chrX_2747040_2821500 | 2773585 | A | AGGAAGGA others(169): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0119 | 1 | 322 | 0.0031 | 176 | c.104 others(193): Show |
XG | ENSG00000124343.14 | transcript | ENST00000644266.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 781907 | G | GTGGGGGA others(169): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0015 | a0001c0015t0005 | a0001c0015t0005g0034 | 1 | 271 | 0.0037 | 176 | c.-23 others(195): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
ZMYND8_chr20_47204214_47361699 | 47225596 | A | AGGAAGGG others(169): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02055.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0068 others(5): Show |
8 | 208 | 0.0385 | 176 | c.301 others(195): Show |
ZMYND8 | ENSG00000101040.20 | transcript | ENST00000471951.7 | protein_coding | 18/22 | chr20 | TogoVar | |||||||
ZMYND8_chr20_47204214_47361699 | 47225596 | A | AGGAAGGG others(169): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18971.hp2 NA19055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | 208 | 0.0240 | 176 | c.301 others(195): Show |
ZMYND8 | ENSG00000101040.20 | transcript | ENST00000471951.7 | protein_coding | 18/22 | chr20 | TogoVar | |||||||
ZMYND8_chr20_47204214_47361699 | 47225596 | A | AGGGAGGG others(169): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0026 | 1 | 208 | 0.0048 | 176 | c.301 others(195): Show |
ZMYND8 | ENSG00000101040.20 | transcript | ENST00000471951.7 | protein_coding | 18/22 | chr20 | TogoVar | |||||||
ZNF117_chr7_64966772_64996036 | 64968153 | A | ACCTCCCT others(169): Show |
downstream_gene_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 | 1 | 444 | 0.0023 | 176 | c.*99 others(187): Show |
ZNF117 | ENSG00000152926.16 | transcript | ENST00000282869.11 | protein_coding | 3618 | chr7 | TogoVar | |||||||
ZNF117_chr7_64966772_64996036 | 64968153 | A | ACCTCCCT others(169): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 1 | 444 | 0.0023 | 176 | c.*99 others(187): Show |
ZNF117 | ENSG00000152926.16 | transcript | ENST00000282869.11 | protein_coding | 3618 | chr7 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370841 | C | CATATATC others(169): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0007 | a0001c0007t0033 | a0001c0007t0033g0122 | 1 | 350 | 0.0029 | 176 | c.-36 others(187): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3527 | chr10 | TogoVar | |||||||
ZNF407_chr18_74592870_75070671 | 74617096 | A | ACACACAT others(169): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02559.hp1 |
a0012a0013 | a0012c0031a0013c0030 | a0012c0031t0002a0013c0030t0002 | a0012c0031t0002g0020 a0013c0030t0002g0031 |
2 | 92 | 0.0217 | 176 | c.-53 others(195): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 1/8 | chr18 | TogoVar | |||||||
ZNF470_chr19_56562468_56587894 | 56572377 | T | TATACACA others(169): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18522.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0117 a0002c0003t0002g0120 |
2 | 420 | 0.0048 | 176 | c.60+ others(191): Show |
ZNF470 | ENSG00000197016.12 | transcript | ENST00000330619.13 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF543_chr19_57315472_57335770 | 57319251 | T | TACATATA others(169): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0087 | 1 | 460 | 0.0022 | 176 | c.-16 others(187): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1220 | chr19 | TogoVar | |||||||
ZNF791_chr19_12605920_12638834 | 12621734 | T | TGCCCGGC others(169): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01934.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0027a0001c0001t0058others(2): Show | a0001c0001t0026g0215 a0001c0001t0026g0217 a0001c0001t0027g0016 others(4): Show |
7 | 382 | 0.0183 | 176 | c.4-1 others(189): Show |
ZNF791 | ENSG00000173875.14 | transcript | ENST00000343325.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838422 | C | CAGAGGGG others(170): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 336 | 0.0030 | 177 | c.361 others(196): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99839459 | G | GGGGGGCC others(170): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0125 | 1 | 336 | 0.0030 | 177 | c.361 others(196): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99839469 | A | ACCCCCCC others(170): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0029 | a0004c0029t0001 | a0004c0029t0001g0331 | 1 | 336 | 0.0030 | 177 | c.361 others(196): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1293764 | G | GGAGGCCC others(170): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 295 | 0.0034 | 177 | c.236 others(192): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 23/23 | chr1 | TogoVar | |||||||
ACER3_chr11_76855918_77031797 | 77005945 | A | AATTATAC others(170): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 | 1 | 346 | 0.0029 | 177 | c.497 others(194): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1558606 | T | TGCATGCT others(170): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0015others(27): Show | a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0102 others(34): Show |
37 | 106 | 0.3491 | 177 | c.100 others(198): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1558708 | G | GTGGGTGC others(170): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0011 | a0007c0011t0034 | a0007c0011t0034g0076 | 1 | 106 | 0.0094 | 177 | c.100 others(198): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGRV1_chr5_90553797_91169437 | 90595129 | C | CCCTCCCG others(170): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0020 | a0020c0041 | a0020c0041t0001 | a0020c0041t0001g0129 | 1 | 158 | 0.0063 | 177 | c.23- others(194): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 1/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90702007 | T | TGAAAACC others(170): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 158 | 0.0063 | 177 | c.815 others(196): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 34/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 100016582 | C | CAGTAGTG others(170): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0005 | 1 | 100 | 0.0100 | 177 | c.54- others(192): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530098 | G | GATATTCT others(170): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02293.hp2 HG02647.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0001g0056 others(11): Show |
14 | 236 | 0.0593 | 177 | c.409 others(196): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530125 | G | GATATTCT others(170): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 236 | 0.0042 | 177 | c.409 others(196): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ANAPC10_chr4_144989576_145103196 | 145039010 | C | CAAAAAAA others(170): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 336 | 0.0030 | 177 | c.327 others(196): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | |||||||
ANXA2R_chr5_43034371_43045319 | 43043837 | T | TAATATAT others(170): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 296 | 0.0068 | 177 | c.-37 others(188): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3519 | chr5 | TogoVar | |||||||
ANXA2R_chr5_43034371_43045319 | 43043837 | T | TAATATAT others(170): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 296 | 0.0034 | 177 | c.-37 others(188): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3519 | chr5 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964985 | G | GTGGAAAG others(170): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0012 | a0001c0002t0002g0136 a0001c0002t0002g0217 a0001c0002t0002g0219 others(2): Show |
5 | 268 | 0.0187 | 177 | c.137 others(194): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 965044 | G | GTGGAAAG others(170): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01433.hp1 others(5): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0002t0004a0001c0008t0004 | a0001c0002t0002g0226 a0001c0002t0004g0223 a0001c0002t0004g0224 others(5): Show |
8 | 268 | 0.0299 | 177 | c.137 others(194): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89868583 | A | ACCCAGCC others(170): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0231 | 1 | 312 | 0.0032 | 177 | c.345 others(194): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41159907 | A | AAGGAGAA others(170): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0139 | 1 | 192 | 0.0052 | 177 | c.-41 others(198): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
APLP2_chr11_130064894_130149805 | 130091520 | A | AGGGCGGC others(170): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00673.hp1 others(42): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0146 others(42): Show |
45 | 274 | 0.1642 | 177 | c.106 others(196): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130091536 | C | CGGGGGGC others(170): Show |
intron_variant | MODIFIER | HG01099.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | 274 | 0.0073 | 177 | c.106 others(196): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130091735 | C | CCCTCCCG others(170): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0050 |
2 | 274 | 0.0073 | 177 | c.106 others(196): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCAC others(170): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 296 | 0.0034 | 177 | c.*67 others(188): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar |