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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLXDC2_chr10_19811432_20294856 | 20126767 | C | CACACACG others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02965.hp2 HG02970.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0004a0001c0001t0038a0005c0006t0065 | a0001c0001t0004g0096 a0001c0001t0038g0153 a0005c0006t0065g0010 |
3 | 180 | 0.0167 | 24 | c.542 others(43): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20129542 | C | CATACACA others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0058 | 1 | 180 | 0.0056 | 24 | c.542 others(43): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20140432 | T | TCTATCTA others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0074 | 1 | 180 | 0.0056 | 24 | c.542 others(41): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20146488 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02897.hp1 HG03098.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0001c0001t0045a0001c0001t0088others(1): Show | a0001c0001t0012g0028 a0001c0001t0012g0176 a0001c0001t0045g0061 others(2): Show |
5 | 180 | 0.0278 | 24 | c.665 others(41): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20146518 | T | TCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0108 | 1 | 180 | 0.0056 | 24 | c.665 others(41): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20284312 | C | CATATATA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0032 | 1 | 180 | 0.0056 | 24 | c.*45 others(35): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 14/14 | 4507 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXNA2_chr1_208017242_208249384 | 208209983 | A | AATTTTTT others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02622.hp2 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0004a0001c0035a0002c0002others(3): Show | a0001c0004t0016a0001c0004t0031a0001c0035t0014others(4): Show | a0001c0004t0016g0005 a0001c0004t0016g0006 a0001c0004t0031g0241 others(6): Show |
9 | 312 | 0.0289 | 24 | c.137 others(41): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 3/31 | chr1 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132132497 | T | TTCTATTC others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 88 | 0.0114 | 24 | c.558 others(41): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 31/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132191772 | A | ATCTCTCT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01346.hp2 HG01934.hp2 others(3): Show |
a0001 | a0001c0006a0001c0007a0001c0011others(1): Show | a0001c0006t0005a0001c0007t0004a0001c0011t0001others(1): Show | a0001c0006t0005g0061 a0001c0007t0004g0029 a0001c0011t0001g0024 others(3): Show |
6 | 88 | 0.0682 | 24 | c.285 others(43): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132322184 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0031 | a0001c0031t0002 | a0001c0031t0002g0083 | 1 | 88 | 0.0114 | 24 | c.137 others(45): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132365360 | T | TGTGTGCG others(17): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0046 | 1 | 88 | 0.0114 | 24 | c.137 others(45): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132365360 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0032 | a0001c0032t0002 | a0001c0032t0002g0012 | 1 | 88 | 0.0114 | 24 | c.137 others(45): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132365360 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0009 | 1 | 88 | 0.0114 | 24 | c.137 others(45): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXND1_chr3_129550214_129611676 | 129595921 | G | GCGCGCAC others(17): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0108 | 1 | 416 | 0.0024 | 24 | c.131 others(43): Show |
PLXND1 | ENSG00000004399.13 | transcript | ENST00000324093.9 | protein_coding | 1/35 | chr3 | TogoVar | |||||||
PM20D1_chr1_205823025_205855132 | 205853436 | A | AATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG03704.hp1 |
a0002a0009 | a0002c0001a0009c0011 | a0002c0001t0001a0009c0011t0001 | a0002c0001t0001g0185 a0009c0011t0001g0182 |
2 | 416 | 0.0048 | 24 | c.-33 others(35): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3305 | chr1 | TogoVar | |||||||
PMEPA1_chr20_57643396_57715015 | 57683547 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0048 | 1 | 360 | 0.0028 | 24 | c.110 others(43): Show |
PMEPA1 | ENSG00000124225.16 | transcript | ENST00000341744.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PMEPA1_chr20_57643396_57715015 | 57683547 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 360 | 0.0028 | 24 | c.110 others(43): Show |
PMEPA1 | ENSG00000124225.16 | transcript | ENST00000341744.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8851977 | C | CTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 HG04204.hp2 NA18939.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 a0001c0001t0002g0224 a0001c0001t0002g0244 others(1): Show |
4 | 408 | 0.0098 | 24 | c.*41 others(35): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2653 | chr16 | TogoVar | |||||||
PMP22_chr17_15224779_15270326 | 15264230 | G | GTAGGTAG others(17): Show |
intron_variant | MODIFIER | NA18987.hp1 NA19063.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0307 |
3 | 426 | 0.0070 | 24 | c.-35 others(39): Show |
PMP22 | ENSG00000109099.16 | transcript | ENST00000312280.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009972 | A | AATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0021 | a0021c0026 | a0021c0026t0006 | a0021c0026t0006g0371 | 1 | 408 | 0.0025 | 24 | c.-95 others(33): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 924 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0073 | 1 | 408 | 0.0025 | 24 | c.-95 others(33): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAATA others(17): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0008 | a0003c0008t0007 | a0003c0008t0007g0344 | 1 | 408 | 0.0025 | 24 | c.-95 others(33): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0065 | 1 | 408 | 0.0025 | 24 | c.-95 others(33): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PNKD_chr2_218265519_218351793 | 218315057 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01069.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0255 others(10): Show |
13 | 280 | 0.0464 | 24 | c.237 others(43): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNKD_chr2_218265519_218351793 | 218315057 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 HG01361.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0231 a0001c0001t0001g0250 a0001c0001t0001g0251 others(12): Show |
15 | 280 | 0.0536 | 24 | c.237 others(43): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNKD_chr2_218265519_218351793 | 218315057 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02572.hp1 HG02602.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0003g0046 others(6): Show |
9 | 280 | 0.0321 | 24 | c.237 others(43): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNKD_chr2_218265519_218351793 | 218348263 | T | TTTTATTT others(17): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01257.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0185 others(1): Show |
4 | 280 | 0.0143 | 24 | c.*32 others(35): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 1471 | chr2 | TogoVar | |||||||
PNKP_chr19_49856204_49872576 | 49872497 | G | GCAACATC others(17): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 430 | 0.0023 | 24 | c.-50 others(35): Show |
PNKP | ENSG00000039650.12 | transcript | ENST00000322344.8 | protein_coding | 4922 | chr19 | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152998362 | C | CATATTTA others(17): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0004g0010 others(1): Show |
10 | 286 | 0.0350 | 24 | c.-46 others(35): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4247 | chrX | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTG others(17): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 454 | 0.0022 | 24 | c.-20 others(35): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00741.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0034 | a0001c0002t0003g0002 a0001c0002t0007g0007 a0001c0002t0034g0042 |
3 | 454 | 0.0066 | 24 | c.-20 others(35): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46475170 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 HG03017.hp2 HG03453.hp2 others(4): Show |
a0001a0008 | a0001c0002a0008c0019 | a0001c0002t0003a0008c0019t0003 | a0001c0002t0003g0002 a0001c0002t0003g0038 a0008c0019t0003g0048 |
7 | 454 | 0.0154 | 24 | c.-39 others(35): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 3608 | chr19 | TogoVar | |||||||
PNMA8C_chr19_46419697_46433936 | 46430340 | C | CCCTTCCT others(17): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 NA18991.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0019 | a0001c0001t0002g0000 a0002c0002t0019g0000 |
2 | 442 | 0.0045 | 24 | c.-19 others(35): Show |
PNMA8C | ENSG00000277531.3 | transcript | ENST00000617053.3 | protein_coding | 1405 | chr19 | TogoVar | |||||||
PNOC_chr8_28312268_28348351 | 28330396 | A | ATTTTATT others(17): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 424 | 0.0024 | 24 | c.126 others(41): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PNOC_chr8_28312268_28348351 | 28330400 | T | TATTTTAT others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02300.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0094 a0001c0001t0002g0070 a0001c0001t0004g0063 |
3 | 424 | 0.0071 | 24 | c.126 others(41): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
PNPLA1_chr6_36265060_36318955 | 36273728 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0060 | 1 | 386 | 0.0026 | 24 | c.205 others(41): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282044 | G | GGAAACAG others(17): Show |
intron_variant | MODIFIER | HG01496.hp2 NA20905.hp1 |
a0003a0013 | a0003c0006a0013c0021 | a0003c0006t0001a0013c0021t0001 | a0003c0006t0001g0376 a0013c0021t0001g0379 |
2 | 386 | 0.0052 | 24 | c.206 others(41): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282044 | G | GGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp2 others(18): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0040others(11): Show | a0001c0001t0002a0001c0003t0005a0001c0040t0002others(12): Show | a0001c0001t0002g0028 a0001c0001t0002g0179 a0001c0001t0002g0180 others(18): Show |
21 | 386 | 0.0544 | 24 | c.206 others(41): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282088 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02074.hp2 HG02145.hp1 others(1): Show |
a0001a0004a0006 | a0001c0001a0004c0007a0006c0009 | a0001c0001t0001a0001c0001t0002a0004c0007t0004others(1): Show | a0001c0001t0001g0024 a0001c0001t0002g0022 a0004c0007t0004g0046 others(1): Show |
4 | 386 | 0.0104 | 24 | c.206 others(41): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282088 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 386 | 0.0026 | 24 | c.206 others(41): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282088 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0268 | 1 | 386 | 0.0026 | 24 | c.206 others(41): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282088 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0006 | a0006c0009 | a0006c0009t0010 | a0006c0009t0010g0271 | 1 | 386 | 0.0026 | 24 | c.206 others(41): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282212 | G | GGAAGGGA others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(48): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(19): Show | a0001c0001t0001g0189 a0001c0001t0002g0201 a0001c0001t0002g0306 others(48): Show |
51 | 386 | 0.1321 | 24 | c.206 others(41): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300161 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0247 | 1 | 386 | 0.0026 | 24 | c.776 others(41): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG01346.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0012others(2): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0002g0147 a0001c0001t0004g0155 a0002c0002t0001g0001 others(12): Show |
16 | 386 | 0.0415 | 24 | c.776 others(41): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA5_chr22_43874678_43897013 | 43885007 | G | GTCACAGA others(17): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0080 | 1 | 438 | 0.0023 | 24 | c.950 others(39): Show |
PNPLA5 | ENSG00000100341.13 | transcript | ENST00000216177.9 | protein_coding | 6/8 | chr22 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137503156 | T | TAGATCAC others(17): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0173 | 1 | 188 | 0.0053 | 24 | c.147 others(43): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55657856 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0243 | 1 | 390 | 0.0026 | 24 | c.128 others(43): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 15/27 | chr2 | TogoVar | |||||||
POC1B_chr12_89414718_89531047 | 89476759 | T | TAGATAGA others(17): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 370 | 0.0027 | 24 | c.453 others(41): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499777 | T | TTGTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02027.hp1 NA18974.hp2 |
a0004a0005 | a0004c0002a0005c0022 | a0004c0002t0003a0005c0022t0003 | a0004c0002t0003g0253 a0004c0002t0003g0303 a0005c0022t0003g0383 |
3 | 440 | 0.0068 | 24 | c.*45 others(35): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 493 | chr7 | TogoVar |