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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAPG_chr18_10521027_10557764 | 10555757 | TGACTCTT others(46): Show |
T | downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | -53 | c.*55 others(64): Show |
NAPG | ENSG00000134265.13 | transcript | ENST00000322897.11 | protein_coding | 2994 | chr18 | TogoVar | ||||||
NCOA3_chr20_47496887_47661872 | 47520657 | ATGTCTTG others(46): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0018 | 1 | 316 | 0.0032 | -53 | c.-99 others(72): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 21514685 | GTGTGGGC others(46): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02970.hp2 others(7): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(7): Show | a0001c0001t0001g0032a0001c0001t0002g0076a0001c0005t0002g0026others(7): Show | 10 | 88 | 0.1136 | -53 | c.164 others(74): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NEMP1_chr12_57050643_57083791 | 57082973 | ATTGCACC others(46): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 398 | 0.0025 | -53 | c.-42 others(64): Show |
NEMP1 | ENSG00000166881.10 | transcript | ENST00000300128.9 | protein_coding | 4183 | chr12 | TogoVar | ||||||
NF2_chr22_29598633_29703598 | 29632972 | CCTCTTTT others(46): Show |
C | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0104 | 1 | 344 | 0.0029 | -53 | c.115 others(70): Show |
NF2 | ENSG00000186575.19 | transcript | ENST00000338641.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NGB_chr14_77260483_77276206 | 77269667 | TTTCTCTC others(46): Show |
T | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 366 | 0.0027 | -53 | c.90- others(66): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NGB_chr14_77260483_77276206 | 77269674 | CTCTCTCT others(46): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG01361.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0025a0001c0001t0001g0045a0001c0001t0001g0092others(5): Show | 11 | 366 | 0.0301 | -53 | c.90- others(66): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NIPSNAP2_chr7_55959585_56005179 | 55963737 | TTCCTTTC others(46): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01978.hp2 HG02056.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0010a0002c0002t0002 | a0001c0001t0002g0039a0001c0001t0002g0040a0001c0001t0002g0042others(16): Show | 22 | 416 | 0.0529 | -53 | c.-87 others(62): Show |
NIPSNAP2 | ENSG00000146729.10 | transcript | ENST00000322090.8 | protein_coding | 847 | chr7 | TogoVar | ||||||
NKAIN2_chr6_123798865_124830640 | 124342418 | AAAAACAA others(46): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG01884.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0021a0001c0002t0003others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0021g0027others(4): Show | 7 | 66 | 0.1061 | -53 | c.193 others(72): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NMD3_chr3_161216311_161257307 | 161245518 | TTCTGCTC others(46): Show |
T | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0214 | 1 | 398 | 0.0025 | -53 | c.101 others(70): Show |
NMD3 | ENSG00000169251.13 | transcript | ENST00000351193.7 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NOXA1_chr9_137418393_137439406 | 137436358 | GCCCCGCG others(46): Show |
G | downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 404 | 0.0025 | -53 | c.*19 others(64): Show |
NOXA1 | ENSG00000188747.9 | transcript | ENST00000683555.1 | protein_coding | 1953 | chr9 | TogoVar | ||||||
NPTX1_chr17_80461834_80481607 | 80478686 | GAGCCTTC others(46): Show |
G | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0029 | 1 | 440 | 0.0023 | -53 | c.-22 others(64): Show |
NPTX1 | ENSG00000171246.7 | transcript | ENST00000306773.5 | protein_coding | 2080 | chr17 | TogoVar | ||||||
NRROS_chr3_196634694_196667004 | 196663230 | GGCCATCT others(46): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(200): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(183): Show | 203 | 472 | 0.4301 | -53 | c.*15 others(64): Show |
NRROS | ENSG00000174004.6 | transcript | ENST00000328557.5 | protein_coding | 1227 | chr3 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50219960 | ATATTATA others(46): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0022 | 1 | 116 | 0.0086 | -53 | c.354 others(74): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 18/22 | chr2 | TogoVar | ||||||
NSG2_chr5_174040706_174114179 | 174068676 | TCTGGTGC others(46): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0020others(254): Show | 268 | 294 | 0.9116 | -53 | c.213 others(70): Show |
NSG2 | ENSG00000170091.11 | transcript | ENST00000303177.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NSG2_chr5_174040706_174114179 | 174068827 | ATGGGAAT others(46): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0068 | 1 | 294 | 0.0034 | -53 | c.213 others(70): Show |
NSG2 | ENSG00000170091.11 | transcript | ENST00000303177.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NXNL1_chr19_17450425_17465926 | 17463909 | GAGAAGAA others(46): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 408 | 0.0025 | -53 | c.-30 others(64): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2984 | chr19 | TogoVar | ||||||
NXPE1_chr11_114513934_114564881 | 114536095 | GTGCAATC others(46): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0263 | 1 | 360 | 0.0028 | -53 | c.100 others(70): Show |
NXPE1 | ENSG00000095110.9 | transcript | ENST00000534921.3 | protein_coding | 5/8 | chr11 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225538773 | TTTTCTTT others(46): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0004a0001c0002t0024a0001c0006t0009 | a0001c0001t0004g0014a0001c0001t0004g0016a0001c0001t0004g0099others(2): Show | 5 | 192 | 0.0260 | -53 | c.523 others(72): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
OBSCN_chr1_228203044_228383876 | 228257433 | TGGTGTCC others(46): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0019 | a0019c0017 | a0019c0017t0002 | a0019c0017t0002g0066 | 1 | 320 | 0.0031 | -53 | c.486 others(70): Show |
OBSCN | ENSG00000154358.23 | transcript | ENST00000680850.1 | protein_coding | 16/115 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OGFOD3_chr17_82384210_82423586 | 82412577 | GGGGCAGG others(46): Show |
G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 348 | 0.0029 | -53 | c.305 others(70): Show |
OGFOD3 | ENSG00000181396.13 | transcript | ENST00000313056.10 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132498692 | CTGGCTCT others(46): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0039 | 1 | 68 | 0.0147 | -53 | c.505 others(72): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
OR1A1_chr17_3202667_3223896 | 3221523 | TATATATA others(46): Show |
T | downstream_gene_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0004 | 1 | 434 | 0.0023 | -53 | c.*49 others(64): Show |
OR1A1 | ENSG00000172146.4 | transcript | ENST00000641732.2 | protein_coding | 2628 | chr17 | TogoVar | ||||||
OR1S2_chr11_58198204_58209142 | 58201766 | TTATTTGG others(46): Show |
T | downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 426 | 0.0024 | -53 | c.*13 others(64): Show |
OR1S2 | ENSG00000197887.6 | transcript | ENST00000641683.2 | protein_coding | 1437 | chr11 | TogoVar | ||||||
ORC4_chr2_147925396_148025737 | 147995363 | TGTGGGGC others(46): Show |
T | intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0096 | 1 | 336 | 0.0030 | -53 | c.-17 others(72): Show |
ORC4 | ENSG00000115947.14 | transcript | ENST00000392857.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
OSCAR_chr19_54089668_54105803 | 54105280 | TTTTTTGG others(46): Show |
T | upstream_gene_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0335 | 1 | 443 | 0.0023 | -53 | c.-45 others(64): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 4478 | chr19 | TogoVar | ||||||
OXSR1_chr3_38160537_38260484 | 38161590 | TATGTATA others(46): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02922.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0009a0002c0002t0001others(1): Show | a0001c0001t0008g0016a0001c0001t0008g0018a0001c0001t0009g0196others(4): Show | 7 | 248 | 0.0282 | -53 | c.-42 others(64): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3946 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189966083 | GAAGAAAG others(46): Show |
G | intron_variant | MODIFIER | HG01891.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0297a0001c0001t0017g0021 | 2 | 304 | 0.0066 | -53 | c.189 others(72): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
PACSIN1_chr6_34461076_34540223 | 34531829 | CCTGGATT others(46): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0176a0001c0001t0002g0177a0001c0001t0009g0173others(7): Show | 10 | 310 | 0.0323 | -53 | c.122 others(70): Show |
PACSIN1 | ENSG00000124507.11 | transcript | ENST00000244458.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PAK5_chr20_9532370_9844076 | 9766366 | TATATTCA others(46): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02486.hp2 NA18906.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0022a0002c0001t0001a0002c0001t0005 | a0001c0002t0022g0109a0002c0001t0001g0037a0002c0001t0005g0161 | 3 | 208 | 0.0144 | -53 | c.-16 others(74): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176696290 | ATGGCTGA others(46): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0019a0001c0001t0010g0106 | 2 | 118 | 0.0170 | -53 | c.274 others(70): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116289133 | TATATATA others(46): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 NA18906.hp2 others(1): Show |
a0002a0017 | a0002c0003a0002c0004a0017c0043 | a0002c0003t0027a0002c0004t0017a0002c0004t0052others(1): Show | a0002c0003t0027g0038a0002c0004t0017g0040a0002c0004t0052g0039others(1): Show | 4 | 234 | 0.0171 | -53 | c.295 others(74): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69300614 | TTTCTTTC others(46): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02602.hp2 HG02895.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(7): Show | 10 | 284 | 0.0352 | -53 | c.-27 others(72): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 758342 | CTCCGGAC others(46): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0332 | 1 | 366 | 0.0027 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 758615 | TTCTTTCT others(46): Show |
T | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0353 | 1 | 366 | 0.0027 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 758680 | GCGCGGCC others(46): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00609.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0058others(3): Show | a0001c0001t0002g0148a0001c0001t0002g0149a0001c0001t0002g0150others(39): Show | 42 | 366 | 0.1148 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 758708 | TTCCGGAC others(46): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG04204.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0003t0054 | a0001c0001t0009g0332a0001c0003t0054g0134 | 2 | 366 | 0.0055 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 758814 | CTCCGGAC others(46): Show |
C | intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0302 | 1 | 366 | 0.0027 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 758920 | TTCCGGAC others(46): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02723.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0015a0001c0001t0004g0259a0001c0001t0004g0359others(2): Show | 5 | 366 | 0.0137 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 758966 | CTTCTCGC others(46): Show |
C | intron_variant | MODIFIER | HG03041.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0291a0001c0001t0004g0360 | 2 | 366 | 0.0055 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 759178 | CTTCTCCT others(46): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0021a0001c0005t0021 | a0001c0001t0008g0319a0001c0001t0021g0217a0001c0005t0021g0269 | 3 | 366 | 0.0082 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 759238 | TTCCGGAC others(46): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG01891.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0168a0001c0001t0003g0044a0001c0001t0003g0045others(22): Show | 25 | 366 | 0.0683 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 759291 | CTCCGGAC others(46): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0063 | a0001c0001t0002g0161a0001c0001t0002g0166a0001c0001t0002g0169others(7): Show | 10 | 366 | 0.0273 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 759496 | CTTCTCCT others(46): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01891.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0019 | a0001c0001t0002g0168a0001c0001t0004g0117a0001c0001t0004g0119others(16): Show | 19 | 366 | 0.0519 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 759549 | GTTCTCCT others(46): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0228a0002c0002t0001g0231 | 2 | 366 | 0.0055 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 759672 | CGGGTCTT others(46): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0025a0001c0003t0054 | a0001c0001t0007g0223a0001c0001t0025g0115a0001c0001t0025g0116others(1): Show | 4 | 366 | 0.0109 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCM1_chr8_17917988_18034948 | 18002025 | TTTTTTTT others(46): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 368 | 0.0027 | -53 | c.482 others(72): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46395543 | GTAATAAA others(46): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0066 | a0066c0086 | a0066c0086t0001 | a0066c0086t0001g0068 | 1 | 332 | 0.0030 | -53 | c.421 others(72): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17468305 | CGTAGACA others(46): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0260 | 1 | 274 | 0.0037 | -53 | c.143 others(72): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17468329 | TCAGCATC others(46): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0041a0001c0001t0057others(1): Show | a0001c0001t0003g0055a0001c0001t0041g0222a0001c0001t0057g0018others(1): Show | 4 | 274 | 0.0146 | -53 | c.143 others(72): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |