| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RELN_chr7_103466789_103994658 | 103826320 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp2 NA19064.hp2 NA19076.hp2 others(1): Show |
a0001a0002a0032others(1): Show | a0001c0003a0002c0014a0032c0058others(1): Show | a0001c0003t0003a0002c0014t0001a0032c0058t0001others(1): Show | a0001c0003t0003g0171a0002c0014t0001g0064a0032c0058t0001g0042others(1): Show | 4 | 184 | 0.0217 | -10 | c.473 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103909710 | AAATATAT others(3): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0145 | 1 | 184 | 0.0054 | -10 | c.337 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103909751 | ATATTAAA others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG01891.hp2 others(17): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0004a0001c0001t0013a0001c0003t0001others(17): Show | a0001c0001t0004g0160a0001c0001t0013g0164a0001c0003t0001g0124others(17): Show | 20 | 184 | 0.1087 | -10 | c.337 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103924985 | TACACATA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG01070.hp1 others(10): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(9): Show | a0001c0002t0001g0041a0001c0003t0001g0093a0001c0003t0002g0012others(10): Show | 13 | 184 | 0.0707 | -10 | c.227 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103924991 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG03471.hp2 NA19043.hp2 NA20129.hp1 |
a0001 | a0001c0003a0001c0005a0001c0054 | a0001c0003t0002a0001c0005t0002a0001c0054t0001 | a0001c0003t0002g0017a0001c0005t0002g0009a0001c0054t0001g0112 | 3 | 184 | 0.0163 | -10 | c.227 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103926627 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0014 | 1 | 184 | 0.0054 | -10 | c.227 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103977310 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(54): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(42): Show | a0001c0001t0001g0090a0001c0001t0002g0010a0001c0001t0002g0030others(54): Show | 57 | 184 | 0.3098 | -10 | c.226 others(29): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103986930 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp1 HG01106.hp1 others(25): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(21): Show | a0001c0001t0001g0129a0001c0001t0002g0010a0001c0001t0002g0030others(25): Show | 28 | 184 | 0.1522 | -10 | c.226 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | ||||||
| RELT_chr11_73371399_73402474 | 73384296 | CCCAGACT others(3): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 340 | 0.0029 | -10 | c.-25 others(27): Show |
RELT | ENSG00000054967.13 | transcript | ENST00000064780.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| REL_chr2_60876574_60936612 | 60911994 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG03486.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0040 | a0001c0001t0021g0139a0001c0001t0021g0184a0001c0001t0040g0144 | 3 | 276 | 0.0109 | -10 | c.395 others(27): Show |
REL | ENSG00000162924.16 | transcript | ENST00000394479.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| REM1_chr20_31470288_31489895 | 31486397 | GAGAGAGA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG03098.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0012a0002c0002t0001g0082a0002c0002t0003g0085 | 3 | 344 | 0.0087 | -10 | c.*19 others(21): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 1503 | chr20 | TogoVar | ||||||
| REM1_chr20_31470288_31489895 | 31486407 | CAGAGAGA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(8): Show | 19 | 344 | 0.0552 | -10 | c.*19 others(21): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 1513 | chr20 | TogoVar | ||||||
| REM2_chr14_22878222_22892678 | 22888841 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 NA19091.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0019 | 3 | 392 | 0.0077 | -10 | c.*19 others(21): Show |
REM2 | ENSG00000139890.10 | transcript | ENST00000267396.9 | protein_coding | 1164 | chr14 | TogoVar | ||||||
| REM2_chr14_22878222_22892678 | 22891203 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 392 | 0.0026 | -10 | c.*42 others(21): Show |
REM2 | ENSG00000139890.10 | transcript | ENST00000267396.9 | protein_coding | 3526 | chr14 | TogoVar | ||||||
| REN_chr1_204149819_204171337 | 204157598 | CCTCCTCA others(3): Show |
C | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 432 | 0.0023 | -10 | c.690 others(25): Show |
REN | ENSG00000143839.15 | transcript | ENST00000272190.9 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
| REPIN1_chr7_150363822_150379039 | 150378227 | CCGCCTGC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0002 | 1 | 400 | 0.0025 | -10 | c.*52 others(21): Show |
REPIN1 | ENSG00000214022.12 | transcript | ENST00000489432.7 | protein_coding | 4189 | chr7 | TogoVar | ||||||
| REPS1_chr6_138898493_138993253 | 138947035 | GCTCTCTC others(3): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(9): Show | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0168others(83): Show | 87 | 390 | 0.2231 | -10 | c.277 others(25): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 2/19 | chr6 | TogoVar | ||||||
| REPS1_chr6_138898493_138993253 | 138969269 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0144a0001c0001t0001g0145others(5): Show | 9 | 390 | 0.0231 | -10 | c.153 others(29): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
| REPS1_chr6_138898493_138993253 | 138992176 | TATACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02809.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0017a0002c0003t0004g0018 | 2 | 390 | 0.0051 | -10 | c.-45 others(21): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 3924 | chr6 | TogoVar | ||||||
| REPS1_chr6_138898493_138993253 | 138992178 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02055.hp1 NA18985.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0128a0001c0001t0001g0139a0001c0001t0001g0181others(1): Show | 4 | 390 | 0.0103 | -10 | c.-45 others(21): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 3926 | chr6 | TogoVar | ||||||
| REPS2_chrX_16941658_17158272 | 16953100 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02293.hp1 HG02717.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0028 | a0001c0001t0006g0133a0001c0001t0006g0134a0001c0001t0028g0135 | 3 | 166 | 0.0181 | -10 | c.273 others(27): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 16962276 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 166 | 0.0060 | -10 | c.273 others(29): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 17013624 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(114): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(114): Show | 117 | 166 | 0.7048 | -10 | c.397 others(27): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 17018212 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(142): Show | 145 | 166 | 0.8735 | -10 | c.398 others(27): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 17098610 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 166 | 0.0060 | -10 | c.151 others(29): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 17102023 | TTTATTTT others(3): Show |
T | intron_variant | MODIFIER | HG02723.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019 | a0001c0001t0016g0020a0001c0001t0019g0101 | 2 | 166 | 0.0121 | -10 | c.151 others(29): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 17102028 | TTTATGTT others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 166 | 0.0060 | -10 | c.151 others(29): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 17102073 | GTTATGTT others(3): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG00735.hp2 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0028others(54): Show | 57 | 166 | 0.3434 | -10 | c.151 others(29): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| REPS2_chrX_16941658_17158272 | 17102078 | GTTATTTT others(3): Show |
G | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 166 | 0.0060 | -10 | c.151 others(29): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RER1_chr1_2386841_2410436 | 2401200 | CTGTCCTC others(3): Show |
C | intron_variant | MODIFIER | HG02135.hp1 NA18747.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0013a0001c0001t0006g0013 | 3 | 354 | 0.0085 | -10 | c.365 others(25): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8385968 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0019 | a0001c0019t0014 | a0001c0019t0014g0119 | 1 | 204 | 0.0049 | -10 | c.128 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8386022 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02451.hp2 others(5): Show |
a0001a0006 | a0001c0009a0001c0010a0001c0011others(1): Show | a0001c0009t0041a0001c0010t0007a0001c0010t0013others(2): Show | a0001c0009t0041g0198a0001c0010t0007g0026a0001c0010t0007g0034others(5): Show | 8 | 204 | 0.0392 | -10 | c.128 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8401034 | AAACCATA others(3): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0040 | a0001c0004t0040g0199 | 1 | 204 | 0.0049 | -10 | c.128 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8401038 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG01517.hp2 HG01884.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0037a0001c0002t0005a0001c0002t0018others(3): Show | a0001c0001t0037g0196a0001c0002t0005g0128a0001c0002t0005g0129others(8): Show | 11 | 204 | 0.0539 | -10 | c.128 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8482681 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02723.hp1 others(7): Show |
a0001a0005a0007 | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0005a0001c0004t0040a0001c0005t0009others(4): Show | a0001c0002t0005g0110a0001c0004t0040g0199a0001c0005t0009g0200others(7): Show | 10 | 204 | 0.0490 | -10 | c.110 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 10/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8490543 | TGTTTAAC others(3): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0066 | 2 | 204 | 0.0098 | -10 | c.110 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 10/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8512014 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0121 | 1 | 204 | 0.0049 | -10 | c.831 others(27): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8564864 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0134 | 1 | 204 | 0.0049 | -10 | c.523 others(27): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8575553 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 204 | 0.0049 | -10 | c.523 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8601626 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG04228.hp2 |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0025 | a0001c0004t0005g0083a0001c0004t0025g0080 | 2 | 204 | 0.0098 | -10 | c.522 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8601663 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0010a0001c0004t0027 | a0001c0004t0010g0107a0001c0004t0027g0106 | 2 | 204 | 0.0098 | -10 | c.522 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8601736 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00639.hp2 others(38): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0003t0004a0001c0003t0008others(18): Show | a0001c0001t0001g0037a0001c0003t0004g0007a0001c0003t0004g0010others(38): Show | 41 | 204 | 0.2010 | -10 | c.522 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8605745 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 204 | 0.0049 | -10 | c.522 others(27): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8605766 | AAAAAACC others(3): Show |
A | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0023 | a0001c0023t0002 | a0001c0023t0002g0175 | 1 | 204 | 0.0049 | -10 | c.522 others(27): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8635942 | TTTATTTT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00741.hp2 others(35): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0005others(14): Show | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0039others(35): Show | 38 | 204 | 0.1863 | -10 | c.326 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8635972 | CTTATCTT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 204 | 0.0049 | -10 | c.326 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8635977 | CTTATTTT others(3): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 204 | 0.0049 | -10 | c.326 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8638783 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03579.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0032a0001c0005t0034 | a0001c0002t0002g0157a0001c0002t0032g0155a0001c0005t0034g0156 | 3 | 204 | 0.0147 | -10 | c.326 others(29): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8654625 | GTTTTGTT others(3): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02970.hp2 HG06807.hp1 |
a0001a0007 | a0001c0004a0001c0009a0007c0020 | a0001c0004t0040a0001c0009t0041a0007c0020t0039 | a0001c0004t0040g0199a0001c0009t0041g0198a0007c0020t0039g0197 | 3 | 204 | 0.0147 | -10 | c.325 others(27): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8668924 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0034 | a0001c0002t0002g0157a0001c0005t0034g0156 | 2 | 204 | 0.0098 | -10 | c.-14 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar |