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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P4HA1_chr10_73002217_73101866 | 73101696 | AAAAAAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 234 | 0.0043 | -10 | c.-49 others(21): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 4831 | chr10 | TogoVar | ||||||
P4HB_chr17_81838166_81865535 | 81858257 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0204 | 1 | 374 | 0.0027 | -10 | c.352 others(25): Show |
P4HB | ENSG00000185624.16 | transcript | ENST00000331483.9 | protein_coding | 2/10 | chr17 | TogoVar | ||||||
P4HTM_chr3_48985241_49012153 | 49003302 | CTGTGGCT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(152): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(48): Show | 155 | 222 | 0.6982 | -10 | c.724 others(25): Show |
P4HTM | ENSG00000178467.18 | transcript | ENST00000383729.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAAF1_chr11_73871999_73936114 | 73880687 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01975.hp1 HG02109.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0208a0001c0001t0002g0027a0001c0001t0007g0009others(12): Show | 16 | 370 | 0.0432 | -10 | c.88+ others(25): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAAF1_chr11_73871999_73936114 | 73886672 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 370 | 0.0027 | -10 | c.89- others(23): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAAF1_chr11_73871999_73936114 | 73908255 | ATGTATAT others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02809.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0034others(1): Show | a0001c0001t0007g0037a0001c0001t0007g0038a0001c0001t0013g0257others(4): Show | 7 | 370 | 0.0189 | -10 | c.533 others(27): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAAF1_chr11_73871999_73936114 | 73908329 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00642.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0042others(3): Show | a0001c0001t0003g0006a0001c0001t0003g0007a0001c0001t0003g0018others(37): Show | 46 | 370 | 0.1243 | -10 | c.533 others(27): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAAF1_chr11_73871999_73936114 | 73918352 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02698.hp2 HG03225.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0003c0003t0002 | a0001c0001t0008g0317a0003c0003t0002g0287 | 2 | 370 | 0.0054 | -10 | c.936 others(25): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PABIR3_chrX_134802237_134859832 | 134838666 | TCCCCCCC others(3): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 199 | 0.0050 | -10 | c.247 others(27): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PABPC1L2B_chrX_72997939_73011106 | 72999761 | CTGAGCTC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 294 | 0.0034 | -10 | c.-38 others(21): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 3177 | chrX | TogoVar | ||||||
PABPC1L2B_chrX_72997939_73011106 | 73007780 | CATATATA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01993.hp1 HG02004.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0005g0000others(4): Show | 51 | 294 | 0.1735 | -10 | c.*35 others(21): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 1675 | chrX | TogoVar | ||||||
PABPC1_chr8_100697916_100727088 | 100715150 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0163 | 3 | 416 | 0.0072 | -10 | c.643 others(25): Show |
PABPC1 | ENSG00000070756.17 | transcript | ENST00000318607.10 | protein_coding | 4/14 | chr8 | TogoVar | ||||||
PABPC3_chr13_25091136_25104254 | 25101175 | TATAGAGA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 5 | 458 | 0.0109 | -10 | c.*30 others(21): Show |
PABPC3 | ENSG00000151846.9 | transcript | ENST00000281589.5 | protein_coding | 1922 | chr13 | TogoVar | ||||||
PABPC3_chr13_25091136_25104254 | 25101177 | TAGAGAGA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02717.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 8 | 458 | 0.0175 | -10 | c.*30 others(21): Show |
PABPC3 | ENSG00000151846.9 | transcript | ENST00000281589.5 | protein_coding | 1924 | chr13 | TogoVar | ||||||
PABPC4_chr1_39555816_39581790 | 39558101 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0019others(8): Show | 38 | 374 | 0.1016 | -10 | c.*30 others(21): Show |
PABPC4 | ENSG00000090621.15 | transcript | ENST00000372858.8 | protein_coding | 2714 | chr1 | TogoVar | ||||||
PABPC4_chr1_39555816_39581790 | 39565827 | CCAAAACA others(3): Show |
C | intron_variant | MODIFIER | HG02015.hp2 HG02698.hp2 NA18973.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0001t0001g0096others(1): Show | 11 | 374 | 0.0294 | -10 | c.973 others(25): Show |
PABPC4 | ENSG00000090621.15 | transcript | ENST00000372858.8 | protein_coding | 7/15 | chr1 | TogoVar | ||||||
PABPN1_chr14_23316457_23331163 | 23318104 | TATTTATT others(3): Show |
T | upstream_gene_variant | MODIFIER | NA18997.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0036 | 1 | 428 | 0.0023 | -10 | c.-33 others(21): Show |
PABPN1 | ENSG00000100836.11 | transcript | ENST00000216727.9 | protein_coding | 3352 | chr14 | TogoVar | ||||||
PABPN1_chr14_23316457_23331163 | 23328990 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 428 | 0.0023 | -10 | c.*37 others(21): Show |
PABPN1 | ENSG00000100836.11 | transcript | ENST00000216727.9 | protein_coding | 2828 | chr14 | TogoVar | ||||||
PACRGL_chr4_20695458_20737557 | 20703477 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02071.hp2 NA18979.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0182 | 4 | 412 | 0.0097 | -10 | c.-16 others(25): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PACRGL_chr4_20695458_20737557 | 20703502 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG03710.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075a0001c0001t0002g0076 | 2 | 412 | 0.0049 | -10 | c.-16 others(25): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PACRGL_chr4_20695458_20737557 | 20725352 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0067 | 1 | 412 | 0.0024 | -10 | c.690 others(25): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162747325 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0089 | 2 | 130 | 0.0154 | -10 | c.156 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162747449 | TATAACTA others(3): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0064 | 1 | 130 | 0.0077 | -10 | c.156 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162787576 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0023others(3): Show | 6 | 130 | 0.0462 | -10 | c.157 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162787578 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016 | a0001c0001t0015g0062a0001c0001t0016g0059 | 2 | 130 | 0.0154 | -10 | c.157 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162947585 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 130 | 0.0077 | -10 | c.292 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162958880 | TATATAGA others(3): Show |
T | intron_variant | MODIFIER | HG03471.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033a0001c0001t0003g0105 | 2 | 130 | 0.0154 | -10 | c.292 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162958882 | TATAGAGA others(3): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 130 | 0.0077 | -10 | c.292 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162958884 | TAGAGAGA others(3): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106 | 1 | 130 | 0.0077 | -10 | c.292 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163162900 | TAGGGTTG others(3): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0117a0001c0001t0002g0043a0001c0001t0003g0007others(1): Show | 4 | 130 | 0.0308 | -10 | c.613 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163197434 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0003t0003 | a0001c0001t0001g0038a0001c0001t0009g0088a0001c0003t0003g0061 | 3 | 130 | 0.0231 | -10 | c.613 others(31): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163290274 | GCGCGCAC others(3): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 130 | 0.0077 | -10 | c.614 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163290276 | GCGCACAC others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01891.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0117a0001c0001t0002g0047a0001c0001t0002g0067others(1): Show | 4 | 130 | 0.0308 | -10 | c.614 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163290278 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0044a0001c0001t0001g0111a0001c0001t0003g0016others(2): Show | 5 | 130 | 0.0385 | -10 | c.614 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163319487 | CATATATA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp1 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0055a0001c0001t0005g0072 | 2 | 130 | 0.0154 | -10 | c.*45 others(21): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 3988 | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163319535 | TATACATA others(3): Show |
T | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 130 | 0.0077 | -10 | c.*45 others(21): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4036 | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163319537 | TACATAGA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 130 | 0.0077 | -10 | c.*45 others(21): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4038 | chr6 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66073916 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 322 | 0.0031 | -10 | c.356 others(27): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACS1_chr11_66065272_66249744 | 66118769 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 322 | 0.0031 | -10 | c.356 others(29): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACS1_chr11_66065272_66249744 | 66156204 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01109.hp1 HG01168.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0018a0001c0001t0001g0053a0001c0001t0001g0105others(8): Show | 11 | 322 | 0.0342 | -10 | c.357 others(29): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACS1_chr11_66065272_66249744 | 66202742 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01070.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0086a0001c0001t0001g0158others(11): Show | 14 | 322 | 0.0435 | -10 | c.445 others(27): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACSIN1_chr6_34461076_34540223 | 34462414 | GGTGTGTG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(66): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0041a0001c0001t0001g0060a0001c0001t0001g0104others(64): Show | 69 | 310 | 0.2226 | -10 | c.-39 others(21): Show |
PACSIN1 | ENSG00000124507.11 | transcript | ENST00000244458.7 | protein_coding | 3661 | chr6 | TogoVar | ||||||
PACSIN1_chr6_34461076_34540223 | 34483001 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0299a0001c0001t0005g0301 | 2 | 310 | 0.0065 | -10 | c.-64 others(29): Show |
PACSIN1 | ENSG00000124507.11 | transcript | ENST00000244458.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACSIN2_chr22_42864773_43020149 | 42934364 | CCTTTTCC others(3): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0081 | 1 | 294 | 0.0034 | -10 | c.-77 others(29): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | ||||||
PACSIN3_chr11_47172522_47191434 | 47174367 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(31): Show | 157 | 364 | 0.4313 | -10 | c.*35 others(21): Show |
PACSIN3 | ENSG00000165912.16 | transcript | ENST00000298838.11 | protein_coding | 3154 | chr11 | TogoVar | ||||||
PACSIN3_chr11_47172522_47191434 | 47190100 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 364 | 0.0028 | -10 | c.-38 others(21): Show |
PACSIN3 | ENSG00000165912.16 | transcript | ENST00000298838.11 | protein_coding | 3667 | chr11 | TogoVar | ||||||
PADI1_chr1_17200128_17251007 | 17240595 | TCTTCCTA others(3): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 HG02083.hp2 others(8): Show |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0001a0001c0004t0001a0001c0005t0001 | a0001c0002t0001g0046a0001c0002t0001g0056a0001c0002t0001g0057others(8): Show | 11 | 406 | 0.0271 | -10 | c.163 others(25): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI2_chr1_17061761_17124451 | 17090581 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0292 | 1 | 356 | 0.0028 | -10 | c.655 others(27): Show |
PADI2 | ENSG00000117115.13 | transcript | ENST00000375486.9 | protein_coding | 6/15 | chr1 | TogoVar | ||||||
PADI2_chr1_17061761_17124451 | 17108175 | CTGACCTC others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(2): Show | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0018others(4): Show | 7 | 356 | 0.0197 | -10 | c.93- others(25): Show |
PADI2 | ENSG00000117115.13 | transcript | ENST00000375486.9 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
PADI3_chr1_17244098_17289233 | 17257031 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02523.hp1 NA18977.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0298a0001c0002t0001g0297a0001c0002t0001g0310 | 3 | 368 | 0.0082 | -10 | c.93- others(25): Show |
PADI3 | ENSG00000142619.4 | transcript | ENST00000375460.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |