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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RUVBL1_chr3_128075810_128128812 | 128089909 | CAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01975.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0104 a0001c0001t0001g0145 others(4): Show |
8 | 360 | 0.0222 | -6 | c.101 others(25): Show |
RUVBL1 | ENSG00000175792.12 | transcript | ENST00000322623.10 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
RUVBL1_chr3_128075810_128128812 | 128093014 | AAAAAAG | A | intron_variant | MODIFIER | NA18967.hp1 NA19062.hp2 NA19065.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0123 a0001c0001t0001g0136 |
4 | 360 | 0.0111 | -6 | c.101 others(25): Show |
RUVBL1 | ENSG00000175792.12 | transcript | ENST00000322623.10 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
RUVBL1_chr3_128075810_128128812 | 128105858 | CCTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG01496.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0052 a0001c0001t0001g0053 others(6): Show |
11 | 360 | 0.0306 | -6 | c.362 others(21): Show |
RUVBL1 | ENSG00000175792.12 | transcript | ENST00000322623.10 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
RUVBL1_chr3_128075810_128128812 | 128126201 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG01258.hp1 HG02015.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0151 others(3): Show |
6 | 360 | 0.0167 | -6 | c.-24 others(17): Show |
RUVBL1 | ENSG00000175792.12 | transcript | ENST00000322623.10 | protein_coding | 2390 | chr3 | TogoVar | |||||||
RUVBL2_chr19_48988887_49020970 | 48996502 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp2 HG01243.hp2 HG01346.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0354 others(8): Show |
12 | 412 | 0.0291 | -6 | c.12+ others(21): Show |
RUVBL2 | ENSG00000183207.15 | transcript | ENST00000595090.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RUVBL2_chr19_48988887_49020970 | 49009160 | CAAAAAA | C | intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 HG01943.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0144 a0001c0001t0001g0147 others(29): Show |
37 | 412 | 0.0898 | -6 | c.463 others(21): Show |
RUVBL2 | ENSG00000183207.15 | transcript | ENST00000595090.6 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RWDD3_chr1_95229210_95252225 | 95237808 | GATACTC | G | intron_variant | MODIFIER | HG02572.hp2 HG03453.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0087 |
3 | 430 | 0.0070 | -6 | c.85+ others(21): Show |
RWDD3 | ENSG00000122481.17 | transcript | ENST00000370202.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158529244 | TTTGTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(64): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 others(63): Show |
67 | 210 | 0.3191 | -6 | c.49+ others(21): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158542079 | CTATATA | C | intron_variant | MODIFIER | HG02698.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0196 |
2 | 210 | 0.0095 | -6 | c.49+ others(23): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158563496 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(99): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(99): Show |
102 | 210 | 0.4857 | -6 | c.50- others(21): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158577012 | TTTCTTC | T | intron_variant | MODIFIER | HG01123.hp1 HG02145.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 a0001c0001t0001g0197 a0001c0001t0001g0198 others(1): Show |
4 | 210 | 0.0191 | -6 | c.187 others(23): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158603889 | CAATAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(56): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0002a0006c0005t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 others(55): Show |
59 | 210 | 0.2810 | -6 | c.393 others(23): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158627504 | GGTGTGT | G | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00642.hp2 others(48): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0006t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0038 others(47): Show |
51 | 210 | 0.2429 | -6 | c.827 others(21): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31794368 | CCACACA | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp2 others(92): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0042 a0001c0001t0001g0086 a0001c0001t0001g0175 others(91): Show |
95 | 386 | 0.2461 | -6 | c.178 others(25): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXFP4_chr1_155936638_155948087 | 155945280 | GGTGTGT | G | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01934.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 312 | 0.0160 | -6 | c.*24 others(17): Show |
RXFP4 | ENSG00000173080.6 | transcript | ENST00000368318.5 | protein_coding | 2194 | chr1 | TogoVar | |||||||
RXRG_chr1_165395922_165450126 | 165409492 | TACACAC | T | intron_variant | MODIFIER | HG01891.hp2 HG01978.hp1 HG02074.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0057 a0001c0001t0001g0072 others(17): Show |
23 | 412 | 0.0558 | -6 | c.104 others(21): Show |
RXRG | ENSG00000143171.13 | transcript | ENST00000359842.10 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
RXRG_chr1_165395922_165450126 | 165434271 | CATGTGT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(49): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0002g0182 others(36): Show |
52 | 412 | 0.1262 | -6 | c.50- others(21): Show |
RXRG | ENSG00000143171.13 | transcript | ENST00000359842.10 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
RXYLT1_chr12_63774909_63814562 | 63812016 | GAGAGGA | G | downstream_gene_variant | MODIFIER | HG00597.hp1 NA18941.hp1 NA18966.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0103 a0001c0001t0001g0136 others(1): Show |
4 | 372 | 0.0108 | -6 | c.*29 others(17): Show |
RXYLT1 | ENSG00000118600.13 | transcript | ENST00000261234.11 | protein_coding | 2455 | chr12 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134196580 | AAAACAC | A | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00741.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 others(10): Show |
13 | 376 | 0.0346 | -6 | c.789 others(23): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 6/14 | chr3 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134196582 | AACACAC | A | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01169.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0067 a0001c0001t0001g0143 a0001c0001t0001g0144 others(16): Show |
20 | 376 | 0.0532 | -6 | c.789 others(23): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 6/14 | chr3 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134246301 | AATACAC | A | intron_variant | MODIFIER | HG02970.hp2 NA18942.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0185 a0001c0001t0001g0218 |
3 | 376 | 0.0080 | -6 | c.232 others(23): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38455967 | GTTTTTT | G | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(34): Show |
a0001a0002a0003others(9): Show | a0001c0003a0001c0004a0001c0020others(25): Show | a0001c0003t0001a0001c0004t0001a0001c0020t0001others(25): Show | a0001c0003t0001g0100 a0001c0003t0001g0105 a0001c0003t0001g0107 others(34): Show |
37 | 218 | 0.1697 | -6 | c.179 others(23): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38464278 | GAAAAAA | G | intron_variant | MODIFIER | HG01169.hp2 HG01257.hp1 HG02293.hp2 others(7): Show |
a0001a0011a0032 | a0001c0001a0001c0029a0001c0099others(2): Show | a0001c0001t0001a0001c0029t0001a0001c0099t0001others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0058 others(7): Show |
10 | 218 | 0.0459 | -6 | c.278 others(23): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502751 | TGGGGCA | T | intron_variant | MODIFIER | HG01255.hp1 HG01934.hp2 HG01978.hp1 others(15): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 others(15): Show |
18 | 218 | 0.0826 | -6 | c.783 others(21): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502804 | CAGGGGG | C | intron_variant | MODIFIER | HG01975.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0068 | a0001c0001t0001a0001c0068t0002 | a0001c0001t0001g0147 a0001c0068t0002g0209 |
2 | 218 | 0.0092 | -6 | c.783 others(21): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502808 | GGGAGGA | G | intron_variant | MODIFIER | HG00621.hp2 HG01169.hp1 HG01433.hp1 others(6): Show |
a0001a0012 | a0001c0001a0001c0028a0001c0067others(5): Show | a0001c0001t0001a0001c0028t0001a0001c0067t0001others(5): Show | a0001c0001t0001g0058 a0001c0001t0001g0094 a0001c0028t0001g0182 others(6): Show |
9 | 218 | 0.0413 | -6 | c.783 others(21): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38522620 | AAGAGAG | A | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0098 a0004c0015t0001g0187 a0004c0015t0001g0188 |
3 | 218 | 0.0138 | -6 | c.102 others(25): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38549875 | TTGTGTG | T | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG01943.hp1 others(6): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0069a0001c0105others(5): Show | a0001c0001t0001a0001c0069t0001a0001c0105t0001others(5): Show | a0001c0001t0001g0145 a0001c0069t0001g0139 a0001c0105t0001g0089 others(6): Show |
9 | 218 | 0.0413 | -6 | c.122 others(27): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38586280 | AGGGGGT | A | intron_variant | MODIFIER | HG00609.hp1 HG01071.hp2 HG01884.hp2 others(23): Show |
a0001a0002a0003others(3): Show | a0001c0022a0001c0029a0001c0034others(15): Show | a0001c0022t0001a0001c0029t0001a0001c0034t0001others(15): Show | a0001c0022t0001g0051 a0001c0022t0001g0052 a0001c0029t0001g0074 others(23): Show |
26 | 218 | 0.1193 | -6 | c.149 others(23): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 104/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38590373 | GAAAAAA | G | downstream_gene_variant | MODIFIER | HG00609.hp2 HG02523.hp1 HG02559.hp1 others(9): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0079 a0001c0002t0001g0063 a0001c0002t0001g0080 others(9): Show |
12 | 218 | 0.0551 | -6 | c.*29 others(17): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2810 | chr19 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38590965 | TCACACA | T | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01071.hp2 HG02056.hp1 others(4): Show |
a0003a0011a0028 | a0003c0006a0003c0051a0003c0100others(2): Show | a0003c0006t0001a0003c0051t0003a0003c0100t0001others(2): Show | a0003c0006t0001g0045 a0003c0006t0001g0114 a0003c0006t0001g0191 others(4): Show |
7 | 218 | 0.0321 | -6 | c.*35 others(17): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3402 | chr19 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237063593 | CACACAT | C | intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 |
a0001 | a0001c0002a0001c0030 | a0001c0002t0003a0001c0030t0005 | a0001c0002t0003g0052 a0001c0030t0005g0053 |
2 | 100 | 0.0200 | -6 | c.48+ others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237082552 | TATATAA | T | intron_variant | MODIFIER | HG00408.hp2 NA18946.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005a0001c0008others(1): Show | a0001c0003t0004a0001c0005t0011a0001c0008t0028others(1): Show | a0001c0003t0004g0060 a0001c0005t0011g0061 a0001c0008t0028g0039 others(1): Show |
4 | 100 | 0.0400 | -6 | c.48+ others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237098381 | GTGTGTA | G | intron_variant | MODIFIER | HG01261.hp2 HG01981.hp1 HG02922.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0017a0001c0029others(1): Show | a0001c0002t0003a0001c0017t0037a0001c0029t0008others(1): Show | a0001c0002t0003g0008 a0001c0017t0037g0032 a0001c0029t0008g0090 others(1): Show |
4 | 100 | 0.0400 | -6 | c.48+ others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237101000 | AGCTGAC | A | intron_variant | MODIFIER | HG01243.hp2 HG03195.hp1 |
a0001a0007 | a0001c0002a0007c0046 | a0001c0002t0001a0007c0046t0010 | a0001c0002t0001g0070 a0007c0046t0010g0080 |
2 | 100 | 0.0200 | -6 | c.48+ others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237116550 | TACATAC | T | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01109.hp1 others(7): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0005others(7): Show | a0001c0002t0003a0001c0003t0001a0001c0005t0006others(7): Show | a0001c0002t0003g0052 a0001c0003t0001g0063 a0001c0005t0006g0029 others(7): Show |
10 | 100 | 0.1000 | -6 | c.48+ others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237169296 | TTTCTTC | T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01099.hp1 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0008a0001c0010others(7): Show | a0001c0002t0026a0001c0008t0027a0001c0010t0029others(7): Show | a0001c0002t0026g0059 a0001c0008t0027g0081 a0001c0010t0029g0051 others(7): Show |
10 | 100 | 0.1000 | -6 | c.49- others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237178416 | CTGTGTG | C | intron_variant | MODIFIER | HG01981.hp1 HG02486.hp1 HG02523.hp1 others(6): Show |
a0001a0002 | a0001c0004a0001c0008a0001c0010others(6): Show | a0001c0004t0018a0001c0008t0042a0001c0010t0029others(6): Show | a0001c0004t0018g0047 a0001c0008t0042g0002 a0001c0010t0029g0051 others(6): Show |
9 | 100 | 0.0900 | -6 | c.49- others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237208936 | GTATATA | G | intron_variant | MODIFIER | HG00408.hp2 HG01099.hp2 HG01169.hp2 others(1): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0037others(1): Show | a0001c0004t0030a0001c0005t0011a0001c0037t0010others(1): Show | a0001c0004t0030g0005 a0001c0005t0011g0061 a0001c0037t0010g0037 others(1): Show |
4 | 100 | 0.0400 | -6 | c.49- others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237217697 | GTTGTGT | G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00738.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0003a0001c0002t0003a0001c0003t0001others(19): Show | a0001c0001t0003g0023 a0001c0001t0003g0089 a0001c0002t0003g0052 others(20): Show |
23 | 100 | 0.2300 | -6 | c.49- others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237217704 | TTGTGTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0038a0001c0005t0006a0001c0005t0034 | a0001c0001t0038g0026 a0001c0005t0006g0029 a0001c0005t0034g0028 |
3 | 100 | 0.0300 | -6 | c.49- others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237249433 | ATATTAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0007a0001c0001t0038a0001c0002t0001others(30): Show | a0001c0001t0007g0082 a0001c0001t0038g0026 a0001c0002t0001g0070 others(32): Show |
35 | 100 | 0.3500 | -6 | c.49- others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237251028 | ATGTGTG | A | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01175.hp2 others(5): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0038a0001c0002t0001a0001c0004t0030others(4): Show | a0001c0001t0038g0026 a0001c0002t0001g0070 a0001c0002t0001g0075 others(5): Show |
8 | 100 | 0.0800 | -6 | c.49- others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237366705 | CACACTG | C | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG00738.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0003a0001c0001t0015a0001c0003t0002others(12): Show | a0001c0001t0003g0089 a0001c0001t0015g0069 a0001c0003t0002g0087 others(12): Show |
15 | 100 | 0.1500 | -6 | c.309 others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 5/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237416749 | AACACAC | A | intron_variant | MODIFIER | HG01109.hp2 HG03579.hp2 NA19043.hp2 |
a0001 | a0001c0002a0001c0014a0001c0022 | a0001c0002t0003a0001c0014t0035a0001c0022t0014 | a0001c0002t0003g0008 a0001c0014t0035g0031 a0001c0022t0014g0066 |
3 | 100 | 0.0300 | -6 | c.774 others(21): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 10/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237427782 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01109.hp1 others(2): Show |
a0001 | a0001c0004a0001c0005a0001c0018others(2): Show | a0001c0004t0004a0001c0005t0006a0001c0018t0032others(2): Show | a0001c0004t0004g0045 a0001c0005t0006g0029 a0001c0018t0032g0041 others(2): Show |
5 | 100 | 0.0500 | -6 | c.100 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 12/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237451974 | GTGTGTA | G | intron_variant | MODIFIER | HG03471.hp2 HG03579.hp1 |
a0001a0002 | a0001c0049a0002c0035 | a0001c0049t0009a0002c0035t0021 | a0001c0049t0009g0044 a0002c0035t0021g0010 |
2 | 100 | 0.0200 | -6 | c.129 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 14/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237515908 | CTCTTCT | C | intron_variant | MODIFIER | HG00408.hp2 HG02293.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0011 | a0001c0003t0001g0078 a0001c0005t0011g0061 |
2 | 100 | 0.0200 | -6 | c.282 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237515911 | TTCTCCC | T | intron_variant | MODIFIER | HG00408.hp1 HG03195.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0008a0001c0018a0001c0026others(1): Show | a0001c0008t0028a0001c0018t0032a0001c0026t0004others(1): Show | a0001c0008t0028g0039 a0001c0018t0032g0041 a0001c0026t0004g0055 others(1): Show |
4 | 100 | 0.0400 | -6 | c.282 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237529760 | TACACAC | T | intron_variant | MODIFIER | HG00408.hp2 HG02293.hp1 HG03471.hp2 others(1): Show |
a0001a0002a0005 | a0001c0003a0001c0005a0002c0035others(1): Show | a0001c0003t0001a0001c0005t0011a0002c0035t0021others(1): Show | a0001c0003t0001g0078 a0001c0005t0011g0061 a0002c0035t0021g0010 others(1): Show |
4 | 100 | 0.0400 | -6 | c.282 others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |