| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PRDX6_chr1_173472335_173493815 | 173477187 | CGCCCCGC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -12 | c.-21 others(21): Show |
PRDX6 | ENSG00000117592.9 | transcript | ENST00000340385.6 | protein_coding | 147 | chr1 | TogoVar | ||||||
| PRDX6_chr1_173472335_173493815 | 173484137 | ATTAGATA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 402 | 0.0025 | -12 | c.253 others(29): Show |
PRDX6 | ENSG00000117592.9 | transcript | ENST00000340385.6 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
| PREB_chr2_27125756_27139636 | 27127236 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022 | 1 | 392 | 0.0026 | -12 | c.*41 others(23): Show |
PREB | ENSG00000138073.14 | transcript | ENST00000260643.7 | protein_coding | 3519 | chr2 | TogoVar | ||||||
| PRELID2_chr5_145751344_145840342 | 145811082 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0245 | 1 | 258 | 0.0039 | -12 | c.368 others(29): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 4/6 | chr5 | TogoVar | ||||||
| PRELID3A_chr18_12402929_12437234 | 12405803 | AAAAGAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01361.hp2 HG02572.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0078a0001c0001t0002g0079a0001c0001t0003g0016others(3): Show | 6 | 394 | 0.0152 | -12 | c.-21 others(23): Show |
PRELID3A | ENSG00000141391.14 | transcript | ENST00000440960.6 | protein_coding | 2125 | chr18 | TogoVar | ||||||
| PREPL_chr2_44312607_44366494 | 44314922 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG02630.hp1 others(17): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0005 | a0001c0001t0005a0001c0002t0005a0001c0002t0017others(2): Show | a0001c0001t0005g0074a0001c0001t0005g0167a0001c0001t0005g0168others(15): Show | 20 | 382 | 0.0524 | -12 | c.*64 others(23): Show |
PREPL | ENSG00000138078.16 | transcript | ENST00000409411.6 | protein_coding | 2684 | chr2 | TogoVar | ||||||
| PREPL_chr2_44312607_44366494 | 44356543 | TCAAACAA others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0060a0001c0010t0041 | a0001c0001t0060g0172a0001c0010t0041g0143 | 2 | 382 | 0.0052 | -12 | c.-49 others(29): Show |
PREPL | ENSG00000138078.16 | transcript | ENST00000409411.6 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
| PREP_chr6_105268218_105408082 | 105303112 | CATGTATG others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01074.hp2 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(15): Show | a0001c0001t0001g0029a0001c0001t0001g0031a0001c0001t0001g0067others(23): Show | 26 | 212 | 0.1226 | -12 | c.131 others(33): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 10/14 | chr6 | TogoVar | ||||||
| PREP_chr6_105268218_105408082 | 105333958 | GTGGGGCT others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02647.hp2 others(10): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0008others(3): Show | a0001c0004t0001a0001c0004t0066a0001c0004t0067others(8): Show | a0001c0004t0001g0064a0001c0004t0066g0207a0001c0004t0067g0205others(10): Show | 13 | 212 | 0.0613 | -12 | c.824 others(27): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 7/14 | chr6 | TogoVar | ||||||
| PREP_chr6_105268218_105408082 | 105374630 | GTTTATAT others(5): Show |
G | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 212 | 0.0047 | -12 | c.386 others(29): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
| PREP_chr6_105268218_105408082 | 105374632 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02040.hp1 NA18940.hp1 |
a0001a0003 | a0001c0001a0003c0015 | a0001c0001t0001a0003c0015t0037 | a0001c0001t0001g0066a0003c0015t0037g0122 | 2 | 212 | 0.0094 | -12 | c.386 others(29): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
| PREP_chr6_105268218_105408082 | 105380738 | GGTCTTGG others(5): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01884.hp2 HG02109.hp1 others(3): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0005 | a0001c0006t0001a0002c0002t0013a0002c0002t0028others(2): Show | a0001c0006t0001g0132a0001c0006t0001g0133a0002c0002t0013g0154others(3): Show | 6 | 212 | 0.0283 | -12 | c.121 others(29): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 2/14 | chr6 | TogoVar | ||||||
| PREP_chr6_105268218_105408082 | 105382270 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01070.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0002c0002others(5): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0008others(34): Show | a0001c0004t0001g0004a0001c0004t0001g0006a0001c0004t0001g0009others(52): Show | 55 | 212 | 0.2594 | -12 | c.121 others(29): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 2/14 | chr6 | TogoVar | ||||||
| PREP_chr6_105268218_105408082 | 105400250 | GATAAGGT others(5): Show |
G | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 212 | 0.0047 | -12 | c.46- others(27): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 1/14 | chr6 | TogoVar | ||||||
| PREP_chr6_105268218_105408082 | 105402418 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 212 | 0.0047 | -12 | c.45+ others(25): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 1/14 | chr6 | TogoVar | ||||||
| PREX1_chr20_48619252_48832999 | 48634163 | GATGGATG others(5): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG01074.hp1 others(24): Show |
a0002a0005a0009others(1): Show | a0002c0002a0002c0013a0005c0008others(2): Show | a0002c0002t0003a0002c0002t0009a0002c0002t0020others(4): Show | a0002c0002t0003g0033a0002c0002t0003g0049a0002c0002t0003g0050others(24): Show | 27 | 268 | 0.1008 | -12 | c.426 others(29): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 33/39 | chr20 | TogoVar | ||||||
| PREX1_chr20_48619252_48832999 | 48641836 | GAGAGAGG others(5): Show |
G | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0005a0001c0011a0001c0016 | a0001c0005t0004a0001c0011t0004a0001c0016t0004 | a0001c0005t0004g0025a0001c0005t0004g0096a0001c0005t0004g0107others(3): Show | 6 | 268 | 0.0224 | -12 | c.377 others(29): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 29/39 | chr20 | TogoVar | ||||||
| PREX1_chr20_48619252_48832999 | 48641840 | GAGGAAGG others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG01081.hp2 others(26): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0020a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0020t0002others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(25): Show | 29 | 268 | 0.1082 | -12 | c.377 others(29): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 29/39 | chr20 | TogoVar | ||||||
| PREX1_chr20_48619252_48832999 | 48684119 | ATCCCTCC others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079a0001c0001t0002g0080a0001c0001t0002g0084others(1): Show | 4 | 268 | 0.0149 | -12 | c.133 others(31): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 10/39 | chr20 | TogoVar | ||||||
| PREX1_chr20_48619252_48832999 | 48693188 | GTCCATCC others(5): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0204 | 1 | 268 | 0.0037 | -12 | c.918 others(27): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 7/39 | chr20 | TogoVar | ||||||
| PREX1_chr20_48619252_48832999 | 48696606 | CACATACA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG02015.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0136a0001c0006t0005g0139a0001c0006t0005g0177others(4): Show | 7 | 268 | 0.0261 | -12 | c.918 others(29): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 7/39 | chr20 | TogoVar | ||||||
| PREX1_chr20_48619252_48832999 | 48746941 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01243.hp2 HG01934.hp1 others(7): Show |
a0001a0003a0010 | a0001c0001a0001c0005a0001c0020others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(4): Show | a0001c0001t0001g0102a0001c0001t0001g0114a0001c0001t0002g0014others(7): Show | 10 | 268 | 0.0373 | -12 | c.291 others(27): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 2/39 | chr20 | TogoVar | ||||||
| PREX2_chr8_67947046_68242032 | 68047469 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG02602.hp2 NA18961.hp2 |
a0001 | a0001c0003a0001c0044a0001c0063 | a0001c0003t0002a0001c0044t0034a0001c0063t0002 | a0001c0003t0002g0120a0001c0044t0034g0036a0001c0063t0002g0117 | 3 | 190 | 0.0158 | -12 | c.943 others(29): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 8/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PREX2_chr8_67947046_68242032 | 68047498 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01952.hp1 HG02738.hp2 HG02895.hp2 others(8): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0019others(7): Show | a0001c0001t0003g0186a0001c0002t0002g0074a0001c0002t0019g0146others(8): Show | 11 | 190 | 0.0579 | -12 | c.943 others(29): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 8/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PREX2_chr8_67947046_68242032 | 68055106 | ACTGTCCT others(5): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0064 | a0001c0064t0001 | a0001c0064t0001g0149 | 1 | 190 | 0.0053 | -12 | c.109 others(29): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 9/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PREX2_chr8_67947046_68242032 | 68076685 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01069.hp1 others(47): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0018a0001c0003t0002a0001c0003t0005others(35): Show | a0001c0001t0018g0189a0001c0003t0002g0120a0001c0003t0005g0094others(47): Show | 50 | 190 | 0.2632 | -12 | c.157 others(29): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 14/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PREX2_chr8_67947046_68242032 | 68098936 | GTGTATAT others(5): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0004 | a0004c0074 | a0004c0074t0002 | a0004c0074t0002g0001 | 1 | 190 | 0.0053 | -12 | c.255 others(29): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 22/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PREX2_chr8_67947046_68242032 | 68162807 | ACTGTGGC others(5): Show |
A | intron_variant | MODIFIER | NA19062.hp2 | a0010 | a0010c0068 | a0010c0068t0002 | a0010c0068t0002g0101 | 1 | 190 | 0.0053 | -12 | c.434 others(31): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 35/39 | chr8 | TogoVar | ||||||
| PREX2_chr8_67947046_68242032 | 68228765 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(71): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(35): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(56): Show | a0001c0001t0002g0154a0001c0001t0002g0165a0001c0001t0002g0171others(71): Show | 74 | 190 | 0.3895 | -12 | c.477 others(31): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 39/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PRF1_chr10_70592348_70607741 | 70604609 | ATTTCTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 442 | 0.0023 | -12 | c.-20 others(23): Show |
PRF1 | ENSG00000180644.8 | transcript | ENST00000441259.2 | protein_coding | 1869 | chr10 | TogoVar | ||||||
| PRG4_chr1_186291279_186319567 | 186319423 | TACAAAGT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 428 | 0.0023 | -12 | c.*56 others(23): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 4857 | chr1 | TogoVar | ||||||
| PRICKLE1_chr12_42451757_42594746 | 42477482 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0062a0001c0001t0001g0097a0001c0001t0001g0101others(11): Show | 14 | 300 | 0.0467 | -12 | c.-48 others(29): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| PRICKLE1_chr12_42451757_42594746 | 42485239 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0260 | 1 | 300 | 0.0033 | -12 | c.-48 others(31): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| PRICKLE1_chr12_42451757_42594746 | 42514887 | CTCTATCT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00642.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0064a0001c0001t0001g0079a0001c0001t0001g0080others(14): Show | 17 | 300 | 0.0567 | -12 | c.-48 others(31): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| PRICKLE1_chr12_42451757_42594746 | 42521929 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0007 | a0007c0014 | a0007c0014t0003 | a0007c0014t0003g0242 | 1 | 300 | 0.0033 | -12 | c.-48 others(31): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| PRICKLE1_chr12_42451757_42594746 | 42527916 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp1 NA18955.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0006 | a0001c0002t0005a0001c0003t0056a0003c0006t0008 | a0001c0002t0005g0268a0001c0003t0056g0300a0003c0006t0008g0076others(1): Show | 4 | 300 | 0.0133 | -12 | c.-48 others(31): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| PRICKLE1_chr12_42451757_42594746 | 42527961 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02647.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0202a0001c0001t0002g0094a0001c0001t0010g0279others(3): Show | 6 | 300 | 0.0200 | -12 | c.-48 others(31): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| PRICKLE1_chr12_42451757_42594746 | 42560103 | AATTATTA others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02109.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0021a0001c0001t0042others(2): Show | a0001c0001t0001g0074a0001c0001t0001g0093a0001c0001t0021g0038others(5): Show | 8 | 300 | 0.0267 | -12 | c.-49 others(31): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| PRICKLE1_chr12_42451757_42594746 | 42560768 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01515.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0024others(14): Show | 17 | 300 | 0.0567 | -12 | c.-49 others(31): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| PRICKLE1_chr12_42451757_42594746 | 42572435 | TTAAATAA others(5): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01074.hp1 NA19009.hp1 |
a0001 | a0001c0001a0001c0003a0001c0017 | a0001c0001t0001a0001c0003t0004a0001c0017t0005 | a0001c0001t0001g0033a0001c0003t0004g0032a0001c0017t0005g0280 | 3 | 300 | 0.0100 | -12 | c.-49 others(31): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| PRICKLE2_chr3_64087236_64230466 | 64089533 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01106.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(21): Show | a0001c0001t0001g0128a0001c0001t0006g0040a0001c0001t0006g0069others(45): Show | 48 | 340 | 0.1412 | -12 | c.*95 others(23): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 2702 | chr3 | TogoVar | ||||||
| PRICKLE2_chr3_64087236_64230466 | 64090787 | TTTTTTTT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(25): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0082others(49): Show | 52 | 340 | 0.1529 | -12 | c.*82 others(23): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 1448 | chr3 | TogoVar | ||||||
| PRICKLE2_chr3_64087236_64230466 | 64165963 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0127 | 1 | 340 | 0.0029 | -12 | c.145 others(29): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
| PRICKLE2_chr3_64087236_64230466 | 64178963 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG00735.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0037a0001c0001t0001g0065a0001c0001t0001g0066others(30): Show | 33 | 340 | 0.0971 | -12 | c.145 others(31): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
| PRICKLE2_chr3_64087236_64230466 | 64198211 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0181a0001c0001t0001g0188a0001c0001t0001g0197others(74): Show | 77 | 340 | 0.2265 | -12 | c.144 others(27): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
| PRIM1_chr12_56726580_56757323 | 56746626 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 336 | 0.0030 | -12 | c.442 others(27): Show |
PRIM1 | ENSG00000198056.16 | transcript | ENST00000338193.11 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
| PRIM2_chr6_57312630_57651850 | 57326893 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02965.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0273a0001c0001t0003g0274a0001c0001t0003g0284others(1): Show | 4 | 300 | 0.0133 | -12 | c.459 others(27): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PRIM2_chr6_57312630_57651850 | 57418383 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG03471.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295a0001c0001t0002g0296a0001c0001t0002g0297others(1): Show | 4 | 300 | 0.0133 | -12 | c.693 others(31): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PRIM2_chr6_57312630_57651850 | 57539648 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0247 | 1 | 300 | 0.0033 | -12 | c.102 others(31): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PRIM2_chr6_57312630_57651850 | 57539650 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0040a0001c0001t0001g0041others(77): Show | 80 | 300 | 0.2667 | -12 | c.102 others(31): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |