| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PRKN_chr6_161342417_162732766 | 161552416 | ACGGTGAT others(61): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 32 | 0.0313 | -68 | c.934 others(85): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 8/11 | chr6 | TogoVar | ||||||
| PRR36_chr19_7863719_7879390 | 7870908 | TGGGGTGT others(61): Show |
T | frameshift_variant | HIGH | NA19087.hp1 | a0023 | a0023c0037 | a0023c0037t0001 | a0023c0037t0001g0030 | 1 | 386 | 0.0026 | -68 | c.226 others(77): Show |
p.Leu others(5): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 5/6 | 2447/4467 | 2268/4041 | 756/1346 | chr19 | TogoVar | ||
| PRR36_chr19_7863719_7879390 | 7870950 | GGGGCTAG others(61): Show |
G | frameshift_variant | HIGH | NA18979.hp1 | a0024 | a0024c0026 | a0024c0026t0002 | a0024c0026t0002g0050 | 1 | 386 | 0.0026 | -68 | c.222 others(77): Show |
p.Pro others(5): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 5/6 | 2405/4467 | 2226/4041 | 742/1346 | chr19 | TogoVar | ||
| PRR36_chr19_7863719_7879390 | 7870977 | GGGGGTGT others(61): Show |
G | frameshift_variant | HIGH | NA19084.hp2 | a0034 | a0034c0025 | a0034c0025t0001 | a0034c0025t0001g0049 | 1 | 386 | 0.0026 | -68 | c.219 others(77): Show |
p.Leu others(5): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 5/6 | 2378/4467 | 2199/4041 | 733/1346 | chr19 | TogoVar | ||
| PRR36_chr19_7863719_7879390 | 7877955 | TATATATA others(61): Show |
T | upstream_gene_variant | MODIFIER | HG02809.hp2 NA19043.hp1 |
a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0020 | 2 | 386 | 0.0052 | -68 | c.-37 others(79): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 3566 | chr19 | TogoVar | ||||||
| PRR36_chr19_7863719_7879390 | 7878050 | ATATACGC others(61): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01074.hp2 others(21): Show |
a0003a0005a0007others(3): Show | a0003c0003a0005c0004a0007c0010others(3): Show | a0003c0003t0001a0005c0004t0003a0007c0010t0003others(3): Show | a0003c0003t0001g0002a0005c0004t0003g0005a0005c0004t0003g0060others(4): Show | 24 | 386 | 0.0622 | -68 | c.-38 others(79): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 3661 | chr19 | TogoVar | ||||||
| PRR36_chr19_7863719_7879390 | 7878135 | TATATACA others(61): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 NA18951.hp2 |
a0030a0031 | a0030c0029a0031c0031 | a0030c0029t0001a0031c0031t0001 | a0030c0029t0001g0043a0031c0031t0001g0044 | 2 | 386 | 0.0052 | -68 | c.-39 others(79): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 3746 | chr19 | TogoVar | ||||||
| PTGFR_chr1_78485974_78545701 | 78532404 | ATGTGTAT others(61): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0346 | 1 | 386 | 0.0026 | -68 | c.799 others(85): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PTPRM_chr18_7562316_8411856 | 7691946 | GGGAGGAT others(61): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG03130.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0041a0001c0003t0002g0033 | 2 | 80 | 0.0250 | -68 | c.74- others(85): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PXMP2_chr12_132682587_132709985 | 132693557 | TAGTTAGT others(61): Show |
T | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0157 | 1 | 350 | 0.0029 | -68 | c.237 others(85): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PXYLP1_chr3_141226825_141299924 | 141248686 | CACGTATA others(61): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 384 | 0.0026 | -68 | c.-53 others(87): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| QRFPR_chr4_121323642_121386018 | 121365544 | ATATATAA others(61): Show |
A | intron_variant | MODIFIER | NA19240.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0154a0001c0001t0007g0174 | 2 | 384 | 0.0052 | -68 | c.340 others(87): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
| RAB26_chr16_2143625_2159165 | 2152041 | GCTGGAGG others(61): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 384 | 0.0026 | -68 | c.468 others(83): Show |
RAB26 | ENSG00000167964.13 | transcript | ENST00000210187.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB40C_chr16_585066_634268 | 612076 | AAGGGACA others(61): Show |
A | intron_variant | MODIFIER | NA18943.hp2 NA19084.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0046a0001c0005t0001g0056 | 2 | 350 | 0.0057 | -68 | c.143 others(85): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB40C_chr16_585066_634268 | 612306 | ATCAAGAG others(61): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01099.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0002a0001c0001t0002g0016a0001c0001t0002g0180others(14): Show | 17 | 350 | 0.0486 | -68 | c.143 others(85): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RABL6_chr9_136802948_136846187 | 136803079 | CGGGGGCC others(61): Show |
C | upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0043 | 1 | 330 | 0.0030 | -68 | c.-51 others(79): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4868 | chr9 | TogoVar | ||||||
| RABL6_chr9_136802948_136846187 | 136803147 | TGGGGCCC others(61): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 |
a0001 | a0001c0003a0001c0033 | a0001c0003t0001a0001c0033t0001 | a0001c0003t0001g0126a0001c0033t0001g0279 | 2 | 330 | 0.0061 | -68 | c.-50 others(79): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4800 | chr9 | TogoVar | ||||||
| RABL6_chr9_136802948_136846187 | 136803219 | GCCCCCCA others(61): Show |
G | upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 330 | 0.0030 | -68 | c.-49 others(79): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4728 | chr9 | TogoVar | ||||||
| RAP1B_chr12_68605899_68676901 | 68612755 | ATAGTCTT others(61): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0262 | 1 | 388 | 0.0026 | -68 | c.-27 others(85): Show |
RAP1B | ENSG00000127314.18 | transcript | ENST00000250559.14 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114099634 | GCCCCCCC others(61): Show |
G | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 67 | 0.0149 | -68 | c.56- others(85): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114119575 | TGTCGATC others(61): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0061 | 1 | 67 | 0.0149 | -68 | c.55+ others(85): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASGEF1A_chr10_43189535_43272065 | 43269178 | GTATAACA others(61): Show |
G | upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212 | 1 | 350 | 0.0029 | -68 | c.-24 others(79): Show |
RASGEF1A | ENSG00000198915.12 | transcript | ENST00000395810.6 | protein_coding | 2114 | chr10 | TogoVar | ||||||
| RASSF6_chr4_73566550_73625436 | 73607889 | ACCCCTCC others(61): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 338 | 0.0030 | -68 | c.65+ others(83): Show |
RASSF6 | ENSG00000169435.14 | transcript | ENST00000307439.10 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
| RBFOX1_chr16_6014024_7718340 | 6779785 | TTTTATAT others(61): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0035 | 1 | 68 | 0.0147 | -68 | c.-16 others(89): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 6780073 | TTACATAT others(61): Show |
T | intron_variant | MODIFIER | HG02630.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0039a0001c0001t0014g0046 | 2 | 68 | 0.0294 | -68 | c.-16 others(89): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 7504719 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 68 | 0.0147 | -68 | c.28- others(85): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_7327845_7718340 | 7504719 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG03831.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0065a0001c0002t0002g0070 | 2 | 234 | 0.0086 | -68 | c.88- others(85): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX3_chr17_79084345_79616051 | 79171678 | TCTCAAAC others(61): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp2 HG01175.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0028a0001c0001t0001g0067a0001c0001t0001g0069others(29): Show | 32 | 154 | 0.2078 | -68 | c.-33 others(87): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
| RBFOX3_chr17_79084345_79616051 | 79171696 | TAGTGATC others(61): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp2 HG02818.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0066a0001c0001t0002g0093a0001c0001t0006g0099others(5): Show | 8 | 154 | 0.0520 | -68 | c.-33 others(87): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
| RBFOX3_chr17_79084345_79616051 | 79579733 | GTGGTGGG others(61): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 154 | 0.0065 | -68 | c.-32 others(89): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
| RBM33_chr7_155639661_155786480 | 155673559 | TACACACA others(61): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03209.hp1 |
a0001 | a0001c0002 | a0001c0002t0101a0001c0002t0103 | a0001c0002t0101g0161a0001c0002t0103g0158 | 2 | 306 | 0.0065 | -68 | c.171 others(83): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| RELN_chr7_103466789_103994658 | 103909710 | AAATATAT others(61): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01070.hp2 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(18): Show | a0001c0001t0001g0073a0001c0001t0003g0169a0001c0001t0003g0170others(26): Show | 29 | 184 | 0.1576 | -68 | c.337 others(85): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | ||||||
| RETREG3_chr17_42574515_42614374 | 42597517 | GTGTGTGT others(61): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0147a0001c0001t0005g0160a0001c0001t0005g0163others(1): Show | 4 | 360 | 0.0111 | -68 | c.240 others(85): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
| REV3L_chr6_111294033_111488218 | 111422612 | ACACATAT others(61): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01106.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149a0002c0002t0001g0157a0002c0002t0001g0167others(6): Show | 9 | 288 | 0.0313 | -68 | c.140 others(85): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | ||||||
| RGN_chrX_47073443_47098313 | 47074216 | AAAGAAAG others(61): Show |
A | upstream_gene_variant | MODIFIER | HG02132.hp1 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0273a0001c0001t0002g0089 | 2 | 304 | 0.0066 | -68 | c.-51 others(79): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4226 | chrX | TogoVar | ||||||
| RGPD3_chr2_106398406_106473413 | 106466554 | GTCGAGGC others(61): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0042 | a0042c0034 | a0042c0034t0077 | a0042c0034t0077g0377 | 1 | 382 | 0.0026 | -68 | c.72+ others(83): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RGPD3_chr2_106398406_106473413 | 106466564 | GCGCCTCA others(61): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02293.hp1 NA19043.hp2 |
a0001a0018a0036 | a0001c0001a0018c0021a0036c0057 | a0001c0001t0002a0018c0021t0029a0036c0057t0054 | a0001c0001t0002g0104a0018c0021t0029g0253a0036c0057t0054g0260 | 3 | 382 | 0.0079 | -68 | c.72+ others(83): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RGPD3_chr2_106398406_106473413 | 106467103 | GTCGAGGC others(61): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG02056.hp2 others(2): Show |
a0013a0014 | a0013c0016a0014c0017 | a0013c0016t0010a0014c0017t0010 | a0013c0016t0010g0149a0014c0017t0010g0148a0014c0017t0010g0150others(2): Show | 5 | 382 | 0.0131 | -68 | c.72+ others(83): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RGPD3_chr2_106398406_106473413 | 106467113 | GCGCCTCA others(61): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG01256.hp1 HG01516.hp2 others(2): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0005others(1): Show | a0001c0001t0003a0004c0004t0008a0004c0004t0028others(2): Show | a0001c0001t0003g0105a0004c0004t0008g0144a0004c0004t0028g0143others(2): Show | 5 | 382 | 0.0131 | -68 | c.72+ others(83): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3413098 | CCCCACAC others(61): Show |
C | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0122 | 1 | 312 | 0.0032 | -68 | c.202 others(85): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RGS13_chr1_192631147_192665311 | 192641238 | AAGAAAGA others(61): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 420 | 0.0024 | -68 | c.-5+ others(83): Show |
RGS13 | ENSG00000127074.15 | transcript | ENST00000391995.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RGS20_chr8_53846795_53964303 | 53947541 | TATACATT others(61): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG02630.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008 | a0001c0001t0003g0022a0001c0001t0006g0043a0001c0001t0006g0044others(1): Show | 4 | 258 | 0.0155 | -68 | c.743 others(83): Show |
RGS20 | ENSG00000147509.14 | transcript | ENST00000297313.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RGS22_chr8_99955936_100111049 | 100051558 | TATAAATA others(61): Show |
T | intron_variant | MODIFIER | NA18955.hp2 NA19005.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207a0001c0001t0001g0208a0001c0001t0001g0209 | 3 | 310 | 0.0097 | -68 | c.168 others(87): Show |
RGS22 | ENSG00000132554.21 | transcript | ENST00000360863.11 | protein_coding | 10/27 | chr8 | TogoVar | ||||||
| RGSL1_chr1_182445146_182565597 | 182447010 | GTGATATA others(61): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(85): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0113a0001c0001t0001g0114others(81): Show | 88 | 338 | 0.2604 | -68 | c.-31 others(79): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 3135 | chr1 | TogoVar | ||||||
| RHOB_chr2_20442074_20454440 | 20445896 | ATATTGTA others(61): Show |
A | upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 368 | 0.0027 | -68 | c.-15 others(79): Show |
RHOB | ENSG00000143878.10 | transcript | ENST00000272233.6 | protein_coding | 1177 | chr2 | TogoVar | ||||||
| RNPC3_chr1_103520699_103560239 | 103525497 | GCCGCCGT others(61): Show |
G | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA18747.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0041a0001c0001t0002g0025a0001c0002t0001g0015 | 4 | 370 | 0.0108 | -68 | c.-57 others(77): Show |
RNPC3 | ENSG00000185946.16 | transcript | ENST00000423855.7 | protein_coding | 201 | chr1 | TogoVar | ||||||
| RORA_chr15_60483284_61234302 | 60597537 | ACACACAC others(61): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0008 | a0001c0008t0057 | a0001c0008t0057g0008 | 1 | 118 | 0.0085 | -68 | c.197 others(87): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
| RORA_chr15_60483284_61234302 | 60597565 | TATATATA others(61): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0052 | a0001c0001t0048g0022a0001c0001t0052g0002 | 2 | 118 | 0.0170 | -68 | c.197 others(87): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
| RORA_chr15_60483284_61234302 | 60816007 | TATAAGTA others(61): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0031 | a0001c0001t0013g0072a0001c0001t0031g0116 | 2 | 118 | 0.0170 | -68 | c.167 others(89): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 242300 | TTACCTTC others(61): Show |
T | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0078 | 1 | 133 | 0.0075 | -68 | c.613 others(85): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar |