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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(622): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 80 | 0.0125 | 629 | c.*64 others(640): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(622): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0217 | 1 | 3 | 0.3333 | 629 | c.597 others(646): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGAGAAC others(622): Show |
intron_variant | MODIFIER | NA18950.hp1 NA19010.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0012 a0001c0002t0006g0011 |
2 | 5 | 0.4000 | 629 | c.157 others(648): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(622): Show |
intron_variant | MODIFIER | HG02080.hp1 NA19068.hp1 |
a0001 | a0001c0002a0001c0033 | a0001c0002t0001a0001c0033t0001 | a0001c0002t0001g0069 a0001c0033t0001g0081 |
2 | 5 | 0.4000 | 629 | c.157 others(648): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
TCF25_chr16_89868592_89916379 | 89908696 | C | CCTCCCAC others(622): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 277 | 0.0036 | 629 | c.179 others(648): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89908696 | C | CCTCCCAC others(622): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02280.hp1 HG02559.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0273 a0002c0003t0001g0275 a0002c0003t0001g0276 others(2): Show |
5 | 281 | 0.0178 | 629 | c.179 others(648): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273643 | C | CAACCGCC others(622): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 104 | 0.0096 | 629 | c.228 others(648): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376905 | G | GCCCCACC others(622): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 NA19063.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0267 a0002c0002t0001g0271 |
2 | 320 | 0.0063 | 629 | c.-93 others(638): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 880 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377282 | C | CCCCCTCT others(622): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0287 | 1 | 329 | 0.0030 | 629 | c.-13 others(640): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1257 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377282 | C | CCCCCTCT others(622): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0110 | 1 | 329 | 0.0030 | 629 | c.-13 others(640): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1257 | chr19 | TogoVar | |||||||
THNSL2_chr2_88165346_88191627 | 88181113 | T | TCTCTCTC others(622): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 19 | 0.0526 | 629 | c.803 others(646): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TM4SF1_chr3_149364022_149382649 | 149380314 | G | GCCCCGCC others(622): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 178 | 0.0056 | 629 | c.-27 others(640): Show |
TM4SF1 | ENSG00000169908.12 | transcript | ENST00000305366.8 | protein_coding | 2666 | chr3 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377582 | C | CATCACCC others(622): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0017 | a0017c0032 | a0017c0032t0002 | a0017c0032t0002g0062 | 1 | 112 | 0.0089 | 629 | c.-25 others(648): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(622): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0046 | 1 | 10 | 0.1000 | 629 | c.-25 others(648): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930741 | C | CGGGGTTA others(622): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 339 | 0.0029 | 629 | c.*48 others(640): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4628 | chr11 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(622): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0291 | 1 | 74 | 0.0135 | 629 | c.218 others(646): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(622): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 24 | 0.0417 | 629 | c.82+ others(644): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(622): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0262 | 1 | 25 | 0.0400 | 629 | c.483 others(644): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(622): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 25 | 0.0400 | 629 | c.483 others(644): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(622): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0304 | 1 | 25 | 0.0400 | 629 | c.483 others(644): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(622): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 100 | 0.0100 | 629 | c.-10 others(646): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(622): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 44 | 0.0227 | 629 | c.-1- others(646): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(622): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 183 | 0.0055 | 629 | c.-42 others(640): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133112018 | G | GGCACCTC others(623): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0139 | 1 | 363 | 0.0028 | 630 | c.401 others(647): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133112019 | A | ACACCTCC others(623): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 2 | 217 | 0.0092 | 630 | c.401 others(647): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(623): Show |
intron_variant | MODIFIER | HG02273.hp2 NA18966.hp2 NA18971.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0069 | a0001c0001t0001g0231 a0002c0002t0003g0199 a0002c0002t0069g0132 |
3 | 9 | 0.3333 | 630 | c.775 others(645): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ANKRD30B_chr18_14743172_14859667 | 14791193 | T | TGTAAAAA others(623): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18747.hp1 NA19004.hp1 |
a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0110 a0009c0012t0002g0151 a0009c0012t0002g0152 |
3 | 314 | 0.0096 | 630 | c.173 others(647): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 15/43 | chr18 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128514 | A | CGCTCCGA others(623): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 308 | 0.0032 | 630 | c.806 others(645): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(623): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 203 | 0.0049 | 630 | c.207 others(651): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(623): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0265 | 1 | 203 | 0.0049 | 630 | c.207 others(651): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(623): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 203 | 0.0049 | 630 | c.207 others(651): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487606 | C | CCCTCCCG others(623): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0187 | 1 | 203 | 0.0049 | 630 | c.207 others(651): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(623): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 86 | 0.0116 | 630 | c.*21 others(645): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(623): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0153 |
2 | 87 | 0.0230 | 630 | c.*21 others(645): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404349 | G | GGGGGGAC others(623): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019 | 1 | 283 | 0.0035 | 630 | c.*27 others(641): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1095 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(623): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 194 | 0.0052 | 630 | c.300 others(647): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72209170 | T | TTCCTTCC others(623): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0013 | 1 | 127 | 0.0079 | 630 | c.244 others(649): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544825 | C | CCTCCCCC others(623): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0256 | 1 | 240 | 0.0042 | 630 | c.-22 others(647): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCTGCCA others(623): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0112 | 1 | 229 | 0.0044 | 630 | c.411 others(647): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CD2AP_chr6_47472789_47632263 | 47505667 | G | GGGGGGCT others(623): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0278 a0002c0002t0001g0279 |
2 | 317 | 0.0063 | 630 | c.165 others(647): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505667 | G | GGGGGGCT others(623): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02615.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0276 a0002c0002t0001g0280 |
2 | 317 | 0.0063 | 630 | c.165 others(647): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278724 | C | CCCCCCTC others(623): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0017 | 1 | 252 | 0.0040 | 630 | c.-45 others(651): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89647564 | A | AGACCCAG others(623): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 383 | 0.0026 | 630 | c.253 others(645): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647614 | T | TGCGGGGT others(623): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0150 | 1 | 285 | 0.0035 | 630 | c.253 others(645): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647637 | C | CGCCGACG others(623): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 383 | 0.0026 | 630 | c.253 others(645): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647648 | G | GGACCCAG others(623): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18970.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 |
3 | 143 | 0.0210 | 630 | c.253 others(645): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648194 | A | AGACCCAG others(623): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 278 | 0.0036 | 630 | c.253 others(645): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648211 | G | GGTGGAGA others(623): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 329 | 0.0030 | 630 | c.253 others(645): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130591387 | A | AAGGAGGT others(623): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 102 | 0.0098 | 630 | c.737 others(649): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130591387 | A | AAGGAGGT others(623): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01167.hp1 HG01515.hp2 others(15): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0004a0007c0010t0001 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0129 others(14): Show |
18 | 119 | 0.1513 | 630 | c.737 others(649): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar |