| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IRAG2_chr12_25047706_25113335 | 25106550 | G | GTACAGTA others(237): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03486.hp2 NA18950.hp1 others(2): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002 | a0002c0002t0001g0046a0003c0003t0002g0150a0003c0003t0002g0187others(2): Show | 5 | 344 | 0.0145 | 244 | c.114 others(261): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| JPH2_chr20_44101590_44192188 | 44134139 | A | AATAAATA others(237): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0077 | 1 | 338 | 0.0030 | 244 | c.117 others(265): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
| KCNJ6_chr21_37602373_37921457 | 37712635 | C | CTCCTCCC others(237): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0102 | 1 | 198 | 0.0051 | 244 | c.946 others(261): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
| KDM7A_chr7_140079746_140181983 | 140100679 | T | TACACATA others(237): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 344 | 0.0029 | 244 | c.163 others(261): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | ||||||
| KIAA0232_chr4_6777727_6889164 | 6879827 | C | CCCTCACC others(237): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18974.hp2 NA18980.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052a0001c0001t0002g0077a0001c0001t0002g0120others(1): Show | 4 | 362 | 0.0111 | 244 | c.400 others(261): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| KIAA0930_chr22_45187244_45245894 | 45229005 | C | CACCACCA others(237): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0170 | 1 | 398 | 0.0025 | 244 | c.64+ others(261): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245682399 | G | GCTGACTG others(237): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0088 | a0001c0004t0088g0051 | 1 | 160 | 0.0063 | 244 | c.225 others(263): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KIF26B_chr1_245149985_245714432 | 245682399 | G | GCTGACTG others(237): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG02622.hp1 others(7): Show |
a0001a0012 | a0001c0004a0001c0013a0001c0046others(1): Show | a0001c0004t0001a0001c0004t0007a0001c0004t0013others(6): Show | a0001c0004t0001g0093a0001c0004t0007g0019a0001c0004t0007g0050others(7): Show | 10 | 160 | 0.0625 | 244 | c.225 others(263): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KLHL18_chr3_47277944_47351816 | 47316707 | G | GTATGTGT others(237): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 338 | 0.0030 | 244 | c.130 others(261): 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(237): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 338 | 0.0030 | 244 | c.130 others(261): 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(237): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 338 | 0.0030 | 244 | c.130 others(261): 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(237): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(57): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0012others(57): Show | 60 | 338 | 0.1775 | 244 | c.130 others(261): 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(237): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252a0001c0001t0001g0269 | 2 | 338 | 0.0059 | 244 | c.130 others(261): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LAMA5_chr20_62304065_62372312 | 62360602 | G | GTGGGTGG others(237): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0081 | a0002c0081t0001 | a0002c0081t0001g0087 | 1 | 186 | 0.0054 | 244 | c.450 others(261): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62360614 | A | ATGGATAG others(237): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0014 | a0014c0019 | a0014c0019t0001 | a0014c0019t0001g0152 | 1 | 186 | 0.0054 | 244 | c.450 others(261): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
| LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(237): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 NA19074.hp2 |
a0001a0017 | a0001c0003a0017c0036 | a0001c0003t0003a0017c0036t0002 | a0001c0003t0003g0300a0017c0036t0002g0026 | 2 | 308 | 0.0065 | 244 | c.*66 others(255): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | ||||||
| LARS1_chr5_146108034_146187650 | 146174471 | T | TATATATC others(237): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0262 | 1 | 284 | 0.0035 | 244 | c.126 others(261): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124506965 | C | CGGGTAGA others(237): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 260 | 0.0039 | 244 | c.624 others(261): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124507409 | G | GTAGACAG others(237): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 260 | 0.0039 | 244 | c.624 others(261): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124507685 | C | CAGGATTT others(237): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 260 | 0.0039 | 244 | c.625 others(261): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124507796 | G | GGGGGGGT others(237): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 260 | 0.0039 | 244 | c.625 others(261): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124507833 | C | CAGGATTT others(237): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 260 | 0.0039 | 244 | c.625 others(261): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(237): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0051 | 1 | 414 | 0.0024 | 244 | c.171 others(261): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(237): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 414 | 0.0024 | 244 | c.171 others(261): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(237): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 414 | 0.0024 | 244 | c.171 others(261): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LOC127933115_chrX_23778278_23788367 | 23780122 | C | CACACATA others(237): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 334 | 0.0030 | 244 | c.-31 others(255): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 3155 | chrX | TogoVar | ||||||
| LOC127933115_chrX_23778278_23788367 | 23780122 | C | CACACATA others(237): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 334 | 0.0030 | 244 | c.-31 others(255): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 3155 | chrX | TogoVar | ||||||
| LOC128125818_chr4_6059977_6075162 | 6067649 | A | ACAGGTCA others(237): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0172 | 1 | 462 | 0.0022 | 244 | c.106 others(261): Show |
LOC128125818 | ENSG00000284684.1 | transcript | ENST00000636216.1 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
| LOC128462377_chr16_89312046_89423292 | 89398375 | G | GCTGTGAA others(237): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02896.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0362a0001c0001t0000g0363a0001c0001t0000g0364others(2): Show | 5 | 366 | 0.0137 | 244 | c.9+1 others(259): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
| LOC128462377_chr16_89312046_89423292 | 89398375 | G | GCTGTGAA others(237): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0005 | 1 | 366 | 0.0027 | 244 | c.9+1 others(259): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(237): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0016 | 1 | 290 | 0.0035 | 244 | c.129 others(261): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LTBP2_chr14_74493183_74617237 | 74564173 | A | ATTTATAT others(237): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0130 | 1 | 282 | 0.0036 | 244 | c.831 others(261): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(237): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18973.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0128a0001c0001t0001g0170 | 3 | 264 | 0.0114 | 244 | c.180 others(263): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| MCC_chr5_113017106_113493453 | 113333828 | T | TATATATG others(237): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18522.hp2 |
a0001 | a0001c0007a0001c0052 | a0001c0007t0022a0001c0052t0004 | a0001c0007t0022g0108a0001c0052t0004g0107 | 2 | 160 | 0.0125 | 244 | c.627 others(261): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
| MCC_chr5_113017106_113493453 | 113333838 | T | TATATGTA others(237): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0004 | a0004c0019 | a0004c0019t0014 | a0004c0019t0014g0117 | 1 | 160 | 0.0063 | 244 | c.627 others(261): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
| MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(237): Show |
intron_variant | MODIFIER | NA18943.hp1 NA19090.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0077a0002c0003t0001g0086 | 2 | 410 | 0.0049 | 244 | c.484 others(259): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
| MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(237): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0208 | 1 | 410 | 0.0024 | 244 | c.484 others(259): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
| MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(237): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0085 | 1 | 410 | 0.0024 | 244 | c.484 others(259): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110681088 | T | TATATTAA others(237): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp2 others(9): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(1): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0157others(9): Show | 12 | 326 | 0.0368 | 244 | c.80- others(259): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MYCBP2_chr13_77039657_77332094 | 77174910 | T | TAATATAT others(237): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 334 | 0.0030 | 244 | c.547 others(261): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 36/82 | chr13 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169771338 | A | AATTATGT others(237): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033 | 1 | 350 | 0.0029 | 244 | c.-21 others(255): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2057 | chr3 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64175477 | C | CCTCCTGC others(237): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0129a0001c0001t0003g0116 | 2 | 223 | 0.0090 | 244 | c.-99 others(263): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64175630 | C | CCTCCTGC others(237): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 223 | 0.0045 | 244 | c.-99 others(263): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(237): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 384 | 0.0026 | 244 | c.-41 others(255): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(237): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0036 | 1 | 384 | 0.0026 | 244 | c.-41 others(255): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar | ||||||
| NEGR1_chr1_71390943_72287539 | 71928131 | C | CATATGTA others(237): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 64 | 0.0156 | 244 | c.409 others(261): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
| NEGR1_chr1_71390943_72287539 | 71928131 | C | CATATGTA others(237): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0026a0001c0001t0004g0028 | 2 | 64 | 0.0313 | 244 | c.409 others(261): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806539 | C | CTCCCCCC others(237): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 319 | 0.0031 | 244 | c.-27 others(255): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2653 | chr2 | TogoVar | ||||||
| NLRP6_chr11_273407_290388 | 287586 | C | CAGCGGAG others(237): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(25): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0012others(5): Show | a0001c0002t0001a0001c0004t0001a0001c0012t0001others(5): Show | a0001c0002t0001g0014a0001c0002t0001g0017a0001c0002t0001g0051others(17): Show | 28 | 446 | 0.0628 | 244 | c.*22 others(255): Show |
NLRP6 | ENSG00000174885.13 | transcript | ENST00000534750.6 | protein_coding | 2199 | chr11 | TogoVar | ||||||
| NSUN2_chr5_6594239_6638044 | 6616678 | A | AAAAATTT others(237): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0300 | 1 | 438 | 0.0023 | 244 | c.102 others(259): Show |
NSUN2 | ENSG00000037474.15 | transcript | ENST00000264670.11 | protein_coding | 9/18 | chr5 | TogoVar |