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 | 19973314 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0036a0001c0001t0038others(5): Show | a0001c0001t0010g0131 a0001c0001t0036g0166 a0001c0001t0038g0153 others(5): Show |
8 | 180 | 0.0444 | 22 | c.113 others(41): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20126485 | C | CACACGTT others(15): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 | 1 | 180 | 0.0056 | 22 | 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 | 20126715 | C | CACACGTT others(15): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0024 | 1 | 180 | 0.0056 | 22 | 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 | 20189476 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18973.hp2 |
a0003 | a0003c0003 | a0003c0003t0008a0003c0003t0109 | a0003c0003t0008g0114 a0003c0003t0109g0039 |
2 | 180 | 0.0111 | 22 | c.106 others(43): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20271132 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0029 | a0001c0001t0010g0131 a0001c0001t0029g0003 |
2 | 180 | 0.0111 | 22 | c.147 others(41): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20284330 | T | TATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG03139.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0130a0003c0003t0105 | a0001c0001t0130g0156 a0003c0003t0105g0087 |
2 | 180 | 0.0111 | 22 | c.*45 others(33): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 14/14 | 4513 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXDC2_chr10_19811432_20294856 | 20284330 | T | TATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0130 | 1 | 180 | 0.0056 | 22 | c.*45 others(33): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 14/14 | 4513 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXNA2_chr1_208017242_208249384 | 208155758 | A | AGCTCTGG others(15): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18955.hp2 NA18960.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0018a0002c0064a0003c0010others(2): Show | a0001c0018t0003a0002c0064t0080a0003c0010t0003others(3): Show | a0001c0018t0003g0087 a0001c0018t0003g0121 a0002c0064t0080g0211 others(4): Show |
7 | 312 | 0.0224 | 22 | c.137 others(43): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 3/31 | chr1 | TogoVar | |||||||
PLXNA2_chr1_208017242_208249384 | 208186708 | A | ATTTTGTT others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01257.hp2 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0084a0001c0001t0089a0001c0004t0013others(14): Show | a0001c0001t0084g0251 a0001c0001t0089g0219 a0001c0004t0013g0247 others(15): Show |
18 | 312 | 0.0577 | 22 | c.137 others(43): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 3/31 | chr1 | TogoVar | |||||||
PLXNA2_chr1_208017242_208249384 | 208209983 | A | AATTTTTT others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0050 | a0002c0050t0062 | a0002c0050t0062g0032 | 1 | 312 | 0.0032 | 22 | c.137 others(39): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 3/31 | chr1 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132151298 | A | AAGGAGGA others(15): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0010 | a0001c0010t0011 | a0001c0010t0011g0001 | 1 | 88 | 0.0114 | 22 | c.466 others(41): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 25/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132156135 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0071 | 1 | 88 | 0.0114 | 22 | c.466 others(41): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 25/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132188993 | G | GGAAAGGA others(15): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0063 | 1 | 88 | 0.0114 | 22 | c.285 others(41): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132188998 | G | GGAGAGGA others(15): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03654.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0019 a0001c0003t0002g0066 |
2 | 88 | 0.0227 | 22 | c.285 others(41): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132311193 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0053 | 1 | 88 | 0.0114 | 22 | c.137 others(43): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132322184 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp2 HG01934.hp2 others(1): Show |
a0001 | a0001c0002a0001c0011a0001c0012 | a0001c0002t0004a0001c0011t0001a0001c0012t0002 | a0001c0002t0004g0025 a0001c0011t0001g0024 a0001c0012t0002g0027 others(1): Show |
4 | 88 | 0.0455 | 22 | c.137 others(43): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132365360 | T | TGTGTGCG others(15): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03654.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0062 a0001c0003t0002g0066 |
2 | 88 | 0.0227 | 22 | c.137 others(43): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132365360 | T | TGTGTGCG others(15): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01993.hp1 |
a0001 | a0001c0002a0001c0027 | a0001c0002t0003a0001c0027t0002 | a0001c0002t0003g0004 a0001c0027t0002g0026 |
2 | 88 | 0.0227 | 22 | c.137 others(43): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132365360 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01934.hp2 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0004a0001c0012t0002 | a0001c0002t0004g0025 a0001c0012t0002g0028 |
2 | 88 | 0.0227 | 22 | c.137 others(43): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXND1_chr3_129550214_129611676 | 129595921 | G | GCGCACAC others(15): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0110 a0001c0002t0002g0112 |
2 | 416 | 0.0048 | 22 | c.131 others(41): Show |
PLXND1 | ENSG00000004399.13 | transcript | ENST00000324093.9 | protein_coding | 1/35 | chr3 | TogoVar | |||||||
PM20D1_chr1_205823025_205855132 | 205853436 | A | AATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG02886.hp1 others(1): Show |
a0002a0009a0012 | a0002c0009a0009c0018a0012c0023 | a0002c0009t0001a0009c0018t0002a0012c0023t0002 | a0002c0009t0001g0144 a0002c0009t0001g0145 a0009c0018t0002g0172 others(1): Show |
4 | 416 | 0.0096 | 22 | c.-33 others(33): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3305 | chr1 | TogoVar | |||||||
PMEPA1_chr20_57643396_57715015 | 57683547 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02615.hp1 HG03688.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0001g0232 a0001c0001t0001g0254 a0001c0001t0001g0262 others(6): Show |
9 | 360 | 0.0250 | 22 | c.110 others(41): Show |
PMEPA1 | ENSG00000124225.16 | transcript | ENST00000341744.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PMEPA1_chr20_57643396_57715015 | 57683547 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03453.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0007a0001c0003t0001 | a0001c0001t0001g0053 a0001c0002t0007g0138 a0001c0003t0001g0052 others(1): Show |
4 | 360 | 0.0111 | 22 | c.110 others(41): Show |
PMEPA1 | ENSG00000124225.16 | transcript | ENST00000341744.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PMEPA1_chr20_57643396_57715015 | 57683548 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0009a0002c0004t0008a0002c0004t0011 | a0001c0001t0009g0035 a0002c0004t0008g0120 a0002c0004t0011g0201 |
3 | 360 | 0.0083 | 22 | c.110 others(41): Show |
PMEPA1 | ENSG00000124225.16 | transcript | ENST00000341744.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PMEPA1_chr20_57643396_57715015 | 57683550 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA21309.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0057 a0001c0003t0006g0149 a0001c0003t0006g0211 |
3 | 360 | 0.0083 | 22 | c.110 others(41): Show |
PMEPA1 | ENSG00000124225.16 | transcript | ENST00000341744.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594338 | T | TGGGGGGG others(15): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01175.hp1 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(1): Show |
5 | 330 | 0.0152 | 22 | c.-45 others(33): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4499 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594355 | C | CGGTGGGG others(15): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02630.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 |
3 | 330 | 0.0091 | 22 | c.-45 others(33): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4516 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594378 | T | TGGGGGGG others(15): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 NA18964.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0132 |
3 | 330 | 0.0091 | 22 | c.-45 others(33): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4539 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594378 | T | TGGGGGGG others(15): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 330 | 0.0030 | 22 | c.-45 others(33): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4539 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594385 | G | GGTGGGGG others(15): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 330 | 0.0030 | 22 | c.-45 others(33): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4546 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594386 | T | TGGGGGAG others(15): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 |
2 | 330 | 0.0061 | 22 | c.-45 others(33): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4547 | chr22 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8827789 | T | TAATATAT others(15): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 408 | 0.0025 | 22 | c.639 others(41): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PMM2_chr16_8792839_8854325 | 8827804 | T | TGTATAAT others(15): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(54): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(50): Show |
57 | 408 | 0.1397 | 22 | c.639 others(41): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8851977 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG03704.hp1 NA18999.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 a0001c0001t0002g0236 a0001c0001t0002g0247 others(1): Show |
4 | 408 | 0.0098 | 22 | c.*41 others(33): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2653 | chr16 | TogoVar | |||||||
PMS1_chr2_189779450_189882629 | 189802677 | A | ACACATAC others(15): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 234 | 0.0043 | 22 | c.316 others(39): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
PMS1_chr2_189779450_189882629 | 189864657 | G | GAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 234 | 0.0043 | 22 | c.234 others(39): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0012 | a0012c0030 | a0012c0030t0034 | a0012c0030t0034g0322 | 1 | 408 | 0.0025 | 22 | c.-95 others(31): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0008 | a0003c0008t0007 | a0003c0008t0007g0345 | 1 | 408 | 0.0025 | 22 | c.-95 others(31): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAATATA others(15): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 NA18953.hp1 |
a0001a0002 | a0001c0002a0002c0013 | a0001c0002t0002a0002c0013t0001 | a0001c0002t0002g0223 a0002c0013t0001g0259 |
2 | 408 | 0.0049 | 22 | c.-95 others(31): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PNKD_chr2_218265519_218351793 | 218315038 | T | TTCTTTCT others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0043 others(22): Show |
25 | 280 | 0.0893 | 22 | c.237 others(41): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152998522 | C | CTATATAA others(15): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0006g0014 |
6 | 286 | 0.0210 | 22 | c.-48 others(33): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4407 | chrX | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152998542 | A | ATATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 286 | 0.0035 | 22 | c.-48 others(33): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4427 | chrX | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152998544 | A | ATATATAA others(15): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0006 a0001c0001t0004g0010 a0001c0001t0005g0012 |
8 | 286 | 0.0280 | 22 | c.-48 others(33): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4429 | chrX | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01167.hp2 HG01169.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0007 a0001c0002t0007g0047 |
4 | 454 | 0.0088 | 22 | c.-20 others(33): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46475170 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 454 | 0.0022 | 22 | c.-39 others(33): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 3608 | chr19 | TogoVar | |||||||
PNPLA1_chr6_36265060_36318955 | 36282088 | A | AGAAAGAA others(15): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149 | 1 | 386 | 0.0026 | 22 | c.206 others(39): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282094 | A | AAAGAAAG others(15): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0024 | a0024c0038 | a0024c0038t0001 | a0024c0038t0001g0299 | 1 | 386 | 0.0026 | 22 | c.206 others(39): 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(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01358.hp2 HG01516.hp2 others(8): Show |
a0001a0004a0011others(2): Show | a0001c0001a0004c0008a0011c0014others(2): Show | a0001c0001t0011a0004c0008t0003a0004c0008t0016others(3): Show | a0001c0001t0011g0061 a0001c0001t0011g0066 a0004c0008t0003g0165 others(8): Show |
11 | 386 | 0.0285 | 22 | c.776 others(39): 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(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03491.hp1 HG03654.hp1 others(11): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0002a0002c0012others(3): Show | a0001c0001t0002a0002c0002t0001a0002c0012t0001others(3): Show | a0001c0001t0002g0141 a0002c0002t0001g0100 a0002c0002t0001g0151 others(11): Show |
14 | 386 | 0.0363 | 22 | c.776 others(39): 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(15): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0381 | 1 | 386 | 0.0026 | 22 | c.776 others(39): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |