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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLOD1_chr1_11929717_11980537 | 11967595 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | NA18960.hp2 NA19012.hp2 NA19060.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0001 a0002c0003t0001g0252 a0002c0003t0001g0255 others(1): Show |
4 | 277 | 0.0144 | 32 | c.175 others(49): Show |
PLOD1 | ENSG00000083444.17 | transcript | ENST00000196061.5 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLOD1_chr1_11929717_11980537 | 11967597 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG01928.hp1 HG04199.hp2 NA19005.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 a0001c0002t0001g0139 a0001c0002t0001g0165 |
3 | 142 | 0.0211 | 32 | c.175 others(49): Show |
PLOD1 | ENSG00000083444.17 | transcript | ENST00000196061.5 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLPP1_chr5_55419854_55539964 | 55443212 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0086 a0001c0001t0002g0008 |
2 | 269 | 0.0074 | 32 | c.492 others(49): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
PLPP1_chr5_55419854_55539964 | 55444741 | T | TTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02717.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0185 a0001c0001t0001g0186 |
3 | 82 | 0.0366 | 32 | c.492 others(49): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291604 | G | GGAGGGGC others(25): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 273 | 0.0037 | 32 | c.-26 others(41): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 202 | chr19 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56518715 | T | TTACATAT others(25): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 163 | 0.0061 | 32 | c.633 others(49): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56518715 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01496.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0056 a0001c0003t0004g0217 |
2 | 164 | 0.0122 | 32 | c.633 others(49): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557040 | G | GAGAAAGA others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 119 | 0.0084 | 32 | c.140 others(51): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557044 | G | GAGAAAGA others(25): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 171 | 0.0058 | 32 | c.140 others(51): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPPR1_chr9_101023727_101330135 | 101316616 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0131 |
2 | 105 | 0.0190 | 32 | c.814 others(47): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLPPR5_chr1_98885245_99009861 | 98928548 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00642.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0003g0189 a0001c0001t0004g0217 a0001c0001t0004g0242 others(3): Show |
6 | 102 | 0.0588 | 32 | c.622 others(49): Show |
PLPPR5 | ENSG00000117598.14 | transcript | ENST00000263177.5 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17382276 | A | AAAAGAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 164 | 0.0061 | 32 | c.-49 others(43): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4935 | chr19 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39129688 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0129 | 1 | 246 | 0.0041 | 32 | c.255 others(49): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39129688 | A | AAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00735.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0218 a0001c0001t0003g0168 a0001c0001t0003g0170 others(26): Show |
29 | 274 | 0.1058 | 32 | c.255 others(49): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39129688 | A | AAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0272 a0001c0001t0003g0085 |
2 | 247 | 0.0081 | 32 | c.255 others(49): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39129711 | G | GGAAAGAA others(25): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01167.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0266 others(26): Show |
29 | 129 | 0.2248 | 32 | c.255 others(49): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39131637 | G | GCCACCAT others(25): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 318 | 0.0031 | 32 | c.255 others(49): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 20026838 | T | TACTTTTA others(25): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18959.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0101a0002c0002t0112 | a0001c0001t0101g0130 a0002c0002t0112g0035 |
2 | 128 | 0.0156 | 32 | c.325 others(51): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20027094 | C | CACTTTTA others(25): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0141 | 1 | 140 | 0.0071 | 32 | c.325 others(51): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20044122 | T | TCCTTCCT others(25): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0052 | 1 | 52 | 0.0192 | 32 | c.325 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20044122 | T | TCCTTCCT others(25): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00673.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0012others(28): Show | a0001c0001t0003g0026 a0001c0001t0010g0063 a0001c0001t0012g0027 others(30): Show |
33 | 84 | 0.3929 | 32 | c.325 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20129529 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01258.hp1 HG01261.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0001c0001t0014a0001c0001t0021others(11): Show | a0001c0001t0003g0026 a0001c0001t0003g0123 a0001c0001t0014g0085 others(12): Show |
15 | 171 | 0.0877 | 32 | c.542 others(51): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238668 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0140 | 1 | 113 | 0.0088 | 32 | c.131 others(51): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238668 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(50): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0150 others(50): Show |
53 | 165 | 0.3212 | 32 | c.131 others(51): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXNA2_chr1_208017242_208249384 | 208209983 | A | AATTTTTT others(25): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0200 | 1 | 57 | 0.0175 | 32 | c.137 others(49): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 3/31 | chr1 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132151497 | G | GAGGAGGA others(25): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0013a0001c0002t0005a0001c0006t0005others(2): Show | a0001c0001t0013g0033 a0001c0002t0005g0070 a0001c0006t0005g0065 others(2): Show |
5 | 75 | 0.0667 | 32 | c.466 others(51): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 25/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132151577 | A | AAGGAGGA others(25): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0021 | a0001c0021t0003 | a0001c0021t0003g0069 | 1 | 45 | 0.0222 | 32 | c.466 others(51): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 25/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132188998 | G | GGAGAGGA others(25): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0038 | a0001c0038t0005 | a0001c0038t0005g0011 | 1 | 61 | 0.0164 | 32 | c.285 others(51): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PM20D1_chr1_205823025_205855132 | 205853436 | A | AATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG01106.hp2 HG01261.hp1 others(8): Show |
a0002a0004a0009others(1): Show | a0002c0001a0004c0005a0004c0030others(2): Show | a0002c0001t0001a0002c0001t0002a0004c0005t0002others(3): Show | a0002c0001t0001g0145 a0002c0001t0002g0001 a0002c0001t0002g0032 others(8): Show |
11 | 227 | 0.0485 | 32 | c.-33 others(43): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3305 | chr1 | TogoVar | |||||||
PML_chr15_73989716_74052827 | 74002335 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 2 | 340 | 0.0059 | 32 | c.602 others(49): Show |
PML | ENSG00000140464.20 | transcript | ENST00000268058.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PMM2_chr16_8792839_8854325 | 8852917 | G | GCCCCCCC others(25): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 406 | 0.0025 | 32 | c.*50 others(43): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3593 | chr16 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(25): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0008 | a0008c0013 | a0008c0013t0042 | a0008c0013t0042g0094 | 1 | 45 | 0.0222 | 32 | c.-95 others(41): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0079 | 1 | 45 | 0.0222 | 32 | c.-95 others(41): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 NA18906.hp1 |
a0001a0002 | a0001c0019a0002c0004 | a0001c0019t0054a0002c0004t0001 | a0001c0019t0054g0365 a0002c0004t0001g0087 |
2 | 46 | 0.0435 | 32 | c.-95 others(41): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAATATA others(25): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0383 | 1 | 45 | 0.0222 | 32 | c.-95 others(41): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AATATACA others(25): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0010 | a0010c0017 | a0010c0017t0004 | a0010c0017t0004g0346 | 1 | 45 | 0.0222 | 32 | c.-95 others(41): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PNISR_chr6_99393050_99430308 | 99422699 | C | CCACCTCC others(25): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 404 | 0.0025 | 32 | c.-11 others(51): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PNKD_chr2_218265519_218351793 | 218315057 | T | TCTTTCTT others(25): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03453.hp1 HG03490.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0195 a0001c0001t0001g0215 a0001c0001t0002g0170 others(4): Show |
7 | 119 | 0.0588 | 32 | c.237 others(51): 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(25): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01346.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0002g0207 others(9): Show |
12 | 124 | 0.0968 | 32 | c.237 others(51): 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(25): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 a0001c0001t0002g0179 |
2 | 114 | 0.0175 | 32 | c.237 others(51): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152998601 | A | ATATATGT others(25): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02895.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 2 | 283 | 0.0071 | 32 | c.-48 others(43): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4486 | chrX | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTT others(25): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0028 a0001c0001t0018g0044 |
2 | 352 | 0.0057 | 32 | c.-20 others(43): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | |||||||
PNPLA1_chr6_36265060_36318955 | 36282044 | G | GGAAACAG others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02155.hp1 HG03017.hp1 |
a0001a0003a0004 | a0001c0001a0003c0007a0004c0006 | a0001c0001t0003a0003c0007t0001a0004c0006t0004 | a0001c0001t0003g0378 a0003c0007t0001g0380 a0004c0006t0004g0148 |
3 | 135 | 0.0222 | 32 | c.206 others(49): 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(25): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02723.hp2 NA18970.hp1 |
a0001a0004a0008 | a0001c0001a0004c0008a0008c0011 | a0001c0001t0002a0004c0008t0019a0008c0011t0001 | a0001c0001t0002g0040 a0004c0008t0019g0140 a0008c0011t0001g0349 |
3 | 135 | 0.0222 | 32 | c.206 others(49): 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(25): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0059 | 1 | 287 | 0.0035 | 32 | c.206 others(49): 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(25): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0015 | a0015c0018 | a0015c0018t0002 | a0015c0018t0002g0327 | 1 | 36 | 0.0278 | 32 | c.206 others(49): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01433.hp2 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0158 a0001c0001t0002g0307 a0001c0003t0001g0106 others(14): Show |
17 | 148 | 0.1149 | 32 | c.776 others(49): 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(25): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 132 | 0.0076 | 32 | c.776 others(49): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137475010 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0023 | a0023c0028 | a0023c0028t0001 | a0023c0028t0001g0172 | 1 | 71 | 0.0141 | 32 | c.288 others(51): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 25/34 | chr9 | TogoVar | |||||||
POC1B_chr12_89414718_89531047 | 89476759 | T | TAGATAGA others(25): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 310 | 0.0032 | 32 | c.453 others(49): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar |