| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GNAQ_chr9_77711097_78036811 | 77894338 | T | TTATATAT others(247): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0276 | 1 | 282 | 0.0036 | 254 | c.321 others(273): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
| GNG7_chr19_2506219_2707694 | 2643481 | C | CGGAAATG others(247): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01981.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0074a0001c0001t0001g0076a0001c0001t0001g0096others(15): Show | 18 | 206 | 0.0874 | 254 | c.-78 others(271): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
| GPC5_chr13_91393621_92872237 | 92347924 | T | TATTATAT others(247): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0024 | 1 | 42 | 0.0238 | 254 | c.156 others(277): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| GPHN_chr14_66503147_67186803 | 66683369 | T | TATATGTT others(247): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0149 | 2 | 234 | 0.0086 | 254 | c.143 others(271): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GPR157_chr1_9095305_9134102 | 9116281 | A | AATTATAT others(247): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0171 | 1 | 404 | 0.0025 | 254 | c.384 others(271): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| GRM7_chr3_6856115_7746533 | 7276785 | T | TCCTTCCT others(247): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02922.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0003 | a0001c0002t0001g0059a0001c0004t0003g0058 | 2 | 80 | 0.0250 | 254 | c.737 others(273): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GTPBP4_chr10_983434_1024932 | 1010881 | T | TCCCTCCA others(247): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 370 | 0.0027 | 254 | c.134 others(271): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| GTPBP4_chr10_983434_1024932 | 1010881 | T | TCCCTCCA others(247): Show |
intron_variant | MODIFIER | HG00280.hp2 NA18964.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0287 | 3 | 370 | 0.0081 | 254 | c.134 others(271): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| GTPBP4_chr10_983434_1024932 | 1010966 | C | CCCCTCCA others(247): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18944.hp2 NA18964.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0039a0001c0001t0001g0185others(1): Show | 7 | 370 | 0.0189 | 254 | c.134 others(271): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| GTPBP6_chrX_299759_323796 | 316132 | C | CACACACA others(247): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19062.hp1 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0087a0003c0004t0002g0099 | 2 | 155 | 0.0129 | 254 | c.487 others(269): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| HCN2_chr19_584881_622159 | 602094 | T | TTCCTCCT others(247): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0005 | a0005c0043 | a0005c0043t0006 | a0005c0043t0006g0108a0005c0043t0006g0109 | 2 | 408 | 0.0049 | 254 | c.633 others(271): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| HCN2_chr19_584881_622159 | 602393 | C | CCTCCTGC others(247): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0032 | a0001c0032t0004 | a0001c0032t0004g0100 | 1 | 408 | 0.0025 | 254 | c.633 others(271): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| HCN2_chr19_584881_622159 | 602415 | T | TCCTCCTC others(247): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0005 | a0005c0110 | a0005c0110t0006 | a0005c0110t0006g0046 | 1 | 408 | 0.0025 | 254 | c.633 others(271): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TACGGAAT others(247): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0034 | 1 | 323 | 0.0031 | 254 | c.-21 others(265): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TGGAATAT others(247): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0194 | 1 | 323 | 0.0031 | 254 | c.-21 others(265): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
| IHO1_chr3_49194498_49263106 | 49200511 | G | GAGAGAGA others(247): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0018 | 1 | 196 | 0.0051 | 254 | c.-16 others(269): Show |
IHO1 | ENSG00000173421.17 | transcript | ENST00000452691.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| IRAG2_chr12_25047706_25113335 | 25106550 | G | GTACAGTA others(247): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0123 | 1 | 344 | 0.0029 | 254 | c.114 others(271): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| KCNMB2_chr3_178531436_178849429 | 178757984 | G | GATATATA others(247): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 232 | 0.0043 | 254 | c.-67 others(273): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KCNMB2_chr3_178531436_178849429 | 178757984 | G | GATATATA others(247): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0175 | 1 | 232 | 0.0043 | 254 | c.-67 others(273): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KCNMB2_chr3_178531436_178849429 | 178758696 | C | CCAAGAGG others(247): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02004.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061a0001c0002t0001g0070 | 2 | 232 | 0.0086 | 254 | c.-67 others(273): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
| KCNMB2_chr3_178531436_178849429 | 178758696 | C | CCAAGAGG others(247): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 232 | 0.0043 | 254 | c.-67 others(273): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
| KCNMB2_chr3_178531436_178849429 | 178758709 | G | GATATATA others(247): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 232 | 0.0043 | 254 | c.-67 others(273): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KDM4B_chr19_4964113_5158598 | 5131555 | A | AGCGGGGG others(247): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 270 | 0.0037 | 254 | c.178 others(269): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KIF1A_chr2_240708767_240825219 | 240781471 | A | ACACACAG others(247): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0019 | 1 | 330 | 0.0030 | 254 | c.882 others(271): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 168035438 | C | CGGGGGGG others(247): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0338 | 1 | 375 | 0.0027 | 254 | c.317 others(271): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KIF25_chr6_167992671_168050091 | 168035461 | C | CGGGGGGG others(247): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0162 | 1 | 375 | 0.0027 | 254 | c.317 others(271): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KLHL18_chr3_47277944_47351816 | 47316707 | G | GTATGTGT others(247): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 338 | 0.0030 | 254 | c.130 others(271): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KLHL18_chr3_47277944_47351816 | 47316707 | G | GTATGTGT others(247): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 338 | 0.0030 | 254 | c.130 others(271): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KLHL23_chr2_169728832_169756878 | 169750105 | T | TACGTATG others(247): Show |
3_prime_UTR_variant | MODIFIER | HG03471.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0116a0001c0001t0118 | a0001c0001t0116g0311a0001c0001t0118g0291 | 2 | 400 | 0.0050 | 254 | c.*37 others(263): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 375 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| LMF1_chr16_848634_975984 | 857891 | C | CAGTGGTG others(247): Show |
intron_variant | MODIFIER | NA19003.hp2 NA19066.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0129a0001c0005t0001g0130 | 2 | 294 | 0.0068 | 254 | c.153 others(273): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 857907 | T | TGGGTGTG others(247): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01975.hp1 HG02273.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0174a0001c0001t0001g0219a0001c0005t0001g0111 | 3 | 294 | 0.0102 | 254 | c.153 others(273): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 858224 | A | ACGGGATG others(247): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 294 | 0.0034 | 254 | c.153 others(273): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 858308 | G | GAGTGGTG others(247): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0060 | a0001c0060t0002 | a0001c0060t0002g0128 | 1 | 294 | 0.0034 | 254 | c.153 others(273): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 858963 | G | GAGTGGTG others(247): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 |
a0001a0005 | a0001c0020a0005c0019 | a0001c0020t0001a0005c0019t0001 | a0001c0020t0001g0099a0005c0019t0001g0083 | 2 | 294 | 0.0068 | 254 | c.153 others(273): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACGTAC others(247): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0172 | 1 | 296 | 0.0034 | 254 | c.368 others(271): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(247): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03453.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0143a0001c0001t0011g0009 | 3 | 296 | 0.0101 | 254 | c.368 others(271): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(247): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0044 | a0001c0004t0044g0257 | 1 | 296 | 0.0034 | 254 | c.368 others(271): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(247): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0239 | 1 | 296 | 0.0034 | 254 | c.368 others(271): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(247): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114 | 1 | 296 | 0.0034 | 254 | c.368 others(271): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| MAN2B2_chr4_6570189_6628362 | 6579111 | T | TCACCACC others(247): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 362 | 0.0028 | 254 | c.391 others(269): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAN2B2_chr4_6570189_6628362 | 6579243 | C | CCATCACC others(247): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 362 | 0.0028 | 254 | c.391 others(269): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MBNL3_chrX_132364320_132494038 | 132396678 | A | ACATATAT others(247): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0149 | 1 | 191 | 0.0052 | 254 | c.343 others(271): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
| MBNL3_chrX_132364320_132494038 | 132396679 | T | TATATAGA others(247): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0106 | 1 | 191 | 0.0052 | 254 | c.343 others(271): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
| MBNL3_chrX_132364320_132494038 | 132396679 | T | TATATATA others(247): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0113 | 1 | 191 | 0.0052 | 254 | c.343 others(271): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
| MBNL3_chrX_132364320_132494038 | 132396679 | T | TATATATA others(247): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 191 | 0.0052 | 254 | c.343 others(271): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
| MBNL3_chrX_132364320_132494038 | 132396679 | T | TATATATA others(247): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 191 | 0.0052 | 254 | c.343 others(271): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
| MCC_chr5_113017106_113493453 | 113333856 | T | TATGTACA others(247): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0084 | 1 | 160 | 0.0063 | 254 | c.627 others(271): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
| MCTP2_chr15_94226561_94488952 | 94243452 | T | TATATGCG others(247): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03669.hp1 |
a0001a0002 | a0001c0001a0002c0019 | a0001c0001t0001a0002c0019t0030 | a0001c0001t0001g0069a0002c0019t0030g0070 | 2 | 276 | 0.0073 | 254 | c.-66 others(273): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| METRNL_chr17_83074609_83100122 | 83090298 | A | ACACACCC others(247): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0243 | 1 | 399 | 0.0025 | 254 | c.557 others(271): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MGAT4C_chr12_85950667_86261391 | 86110268 | C | CTATATAT others(247): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG01515.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0088a0002c0003t0031a0002c0003t0032others(1): Show | a0001c0001t0088g0081a0002c0003t0031g0006a0002c0003t0032g0010others(1): Show | 4 | 186 | 0.0215 | 254 | c.-56 others(273): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 1/4 | chr12 | TogoVar |