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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RXFP4_chr1_155936638_155948087 | 155945280 | GGTGTGTG others(5): Show |
G | downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 312 | 0.0032 | -12 | c.*24 others(23): Show |
RXFP4 | ENSG00000173080.6 | transcript | ENST00000368318.5 | protein_coding | 2194 | chr1 | TogoVar | |||||||
RXRA_chr9_134321455_134445585 | 134339658 | CCTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG02165.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0034 | a0001c0001t0001g0217 a0001c0001t0003g0009 a0001c0001t0003g0010 others(1): Show |
4 | 232 | 0.0172 | -12 | c.28+ others(29): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
RXRA_chr9_134321455_134445585 | 134413391 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0143 | 1 | 232 | 0.0043 | -12 | c.611 others(29): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134423973 | AGGTCCGA others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02896.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 a0001c0001t0004g0202 a0001c0001t0004g0225 |
3 | 232 | 0.0129 | -12 | c.910 others(29): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXYLT1_chr12_63774909_63814562 | 63803181 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 372 | 0.0027 | -12 | c.743 others(27): Show |
RXYLT1 | ENSG00000118600.13 | transcript | ENST00000261234.11 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RYK_chr3_134152133_134255859 | 134248021 | TGTACACA others(5): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0028 | 1 | 376 | 0.0027 | -12 | c.232 others(29): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38464278 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02622.hp1 HG02630.hp2 others(4): Show |
a0001a0013 | a0001c0009a0001c0022a0001c0044others(4): Show | a0001c0009t0001a0001c0022t0001a0001c0044t0001others(4): Show | a0001c0009t0001g0201 a0001c0022t0001g0051 a0001c0044t0001g0048 others(4): Show |
7 | 218 | 0.0321 | -12 | c.278 others(29): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38468044 | TCCATCAT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(109): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0002a0001c0003others(48): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(49): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(109): Show |
112 | 218 | 0.5138 | -12 | c.338 others(29): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502751 | TGGGGCAG others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01169.hp2 HG01943.hp1 others(13): Show |
a0001a0025 | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0013t0001others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 others(13): Show |
16 | 218 | 0.0734 | -12 | c.783 others(27): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502802 | GGCAGGGG others(5): Show |
G | intron_variant | MODIFIER | HG02027.hp1 NA18970.hp1 |
a0001 | a0001c0030a0001c0085 | a0001c0030t0001a0001c0085t0001 | a0001c0030t0001g0054 a0001c0085t0001g0198 |
2 | 218 | 0.0092 | -12 | c.783 others(27): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38549875 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG02559.hp2 others(3): Show |
a0001a0004 | a0001c0056a0001c0068a0001c0070others(2): Show | a0001c0056t0001a0001c0068t0002a0001c0070t0001others(2): Show | a0001c0056t0001g0135 a0001c0068t0002g0209 a0001c0070t0001g0002 others(3): Show |
6 | 218 | 0.0275 | -12 | c.122 others(33): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38551025 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0123 | 1 | 218 | 0.0046 | -12 | c.122 others(33): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38566448 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp2 NA20129.hp2 |
a0001 | a0001c0068a0001c0119 | a0001c0068t0002a0001c0119t0001 | a0001c0068t0002g0209 a0001c0119t0001g0189 |
2 | 218 | 0.0092 | -12 | c.134 others(31): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237061276 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01928.hp1 HG02055.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0040others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(3): Show | a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0003t0002g0087 others(3): Show |
6 | 100 | 0.0600 | -12 | c.48+ others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237064751 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp1 others(44): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0023 others(44): Show |
47 | 100 | 0.4700 | -12 | c.48+ others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237065285 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG03579.hp2 |
a0001a0002 | a0001c0014a0002c0038 | a0001c0014t0035a0002c0038t0043 | a0001c0014t0035g0031 a0002c0038t0043g0096 |
2 | 100 | 0.0200 | -12 | c.48+ others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237178416 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG02257.hp2 others(2): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0038a0001c0004t0030a0001c0005t0006others(2): Show | a0001c0001t0038g0026 a0001c0004t0030g0005 a0001c0005t0006g0029 others(2): Show |
5 | 100 | 0.0500 | -12 | c.49- others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237208936 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02523.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0004a0001c0049 | a0001c0001t0015a0001c0004t0018a0001c0049t0009 | a0001c0001t0015g0069 a0001c0004t0018g0047 a0001c0049t0009g0044 |
3 | 100 | 0.0300 | -12 | c.49- others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237208974 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0036 a0001c0004t0004g0009 |
2 | 100 | 0.0200 | -12 | c.49- others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237332906 | TCCTGAGC others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(29): Show | a0001c0001t0001g0012 a0001c0001t0003g0089 a0001c0001t0003g0100 others(31): Show |
34 | 100 | 0.3400 | -12 | c.273 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 3/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237350571 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 100 | 0.0100 | -12 | c.274 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 3/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237366699 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0037 | a0001c0037t0010 | a0001c0037t0010g0037 | 1 | 100 | 0.0100 | -12 | c.309 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 5/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237380359 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02280.hp2 HG02486.hp1 others(2): Show |
a0001a0002 | a0001c0004a0001c0010a0002c0035 | a0001c0004t0004a0001c0004t0030a0001c0010t0004others(2): Show | a0001c0004t0004g0009 a0001c0004t0030g0005 a0001c0010t0004g0097 others(2): Show |
5 | 100 | 0.0500 | -12 | c.576 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 8/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237383417 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01168.hp1 others(4): Show |
a0001a0002 | a0001c0007a0001c0008a0001c0019others(4): Show | a0001c0007t0016a0001c0008t0027a0001c0019t0022others(4): Show | a0001c0007t0016g0042 a0001c0008t0027g0081 a0001c0019t0022g0035 others(4): Show |
7 | 100 | 0.0700 | -12 | c.577 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 8/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237395533 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG01175.hp2 |
a0001a0003 | a0001c0002a0001c0003a0003c0006 | a0001c0002t0001a0001c0003t0001a0003c0006t0002 | a0001c0002t0001g0075 a0001c0003t0001g0063 a0003c0006t0002g0094 |
3 | 100 | 0.0300 | -12 | c.773 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 10/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237542058 | CTTTATTT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00738.hp1 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(26): Show | a0001c0001t0003g0089 a0001c0001t0003g0100 a0001c0001t0006g0025 others(29): Show |
32 | 100 | 0.3200 | -12 | c.290 others(31): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 25/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237556880 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0083 | 1 | 100 | 0.0100 | -12 | c.321 others(31): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237565157 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp1 NA18522.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0008a0001c0037 | a0001c0001t0007a0001c0008t0042a0001c0037t0010 | a0001c0001t0007g0011 a0001c0008t0042g0002 a0001c0037t0010g0037 |
3 | 100 | 0.0300 | -12 | c.321 others(31): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237577525 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0061 | 1 | 100 | 0.0100 | -12 | c.359 others(31): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 29/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237631613 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00741.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0099 a0001c0001t0003g0089 a0001c0001t0006g0025 others(27): Show |
30 | 100 | 0.3000 | -12 | c.655 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 42/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237641467 | GTCTGTCT others(5): Show |
G | intron_variant | MODIFIER | HG03486.hp1 HG03669.hp1 NA20300.hp1 |
a0001 | a0001c0002a0001c0047 | a0001c0002t0013a0001c0002t0026a0001c0047t0002 | a0001c0002t0013g0017 a0001c0002t0026g0059 a0001c0047t0002g0077 |
3 | 100 | 0.0300 | -12 | c.722 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 47/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237641471 | GTCTTTCT others(5): Show |
G | intron_variant | MODIFIER | HG02451.hp1 NA18747.hp1 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0012a0001c0007t0024 | a0001c0005t0012g0004 a0001c0007t0024g0048 |
2 | 100 | 0.0200 | -12 | c.722 others(29): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 47/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237665397 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01081.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(14): Show | a0001c0001t0003g0023 a0001c0001t0003g0100 a0001c0001t0006g0025 others(16): Show |
19 | 100 | 0.1900 | -12 | c.843 others(31): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 56/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237716754 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0009 | 1 | 100 | 0.0100 | -12 | c.103 others(31): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 71/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237724184 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG00741.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0003a0001c0001t0015a0001c0002t0002others(20): Show | a0001c0001t0003g0023 a0001c0001t0003g0089 a0001c0001t0015g0069 others(26): Show |
29 | 100 | 0.2900 | -12 | c.106 others(31): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 74/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237724337 | GTTTTATA others(5): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG00741.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0003a0001c0001t0015a0001c0002t0002others(27): Show | a0001c0001t0003g0023 a0001c0001t0003g0089 a0001c0001t0015g0069 others(33): Show |
36 | 100 | 0.3600 | -12 | c.106 others(33): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 74/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237795836 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0025 | a0002c0025t0040 | a0002c0025t0040g0003 | 1 | 100 | 0.0100 | -12 | c.139 others(31): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 96/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33325725 | TCTTCCTT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01243.hp1 HG02040.hp1 others(25): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(24): Show | a0001c0001t0001g0096 a0001c0001t0002g0101 a0001c0001t0010g0094 others(25): Show |
28 | 154 | 0.1818 | -12 | c.51+ others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33336440 | AAGAGAGA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02451.hp2 HG04184.hp2 |
a0001a0003a0038 | a0001c0009a0003c0065a0038c0056 | a0001c0009t0002a0003c0065t0002a0038c0056t0001 | a0001c0009t0002g0099 a0003c0065t0002g0150 a0038c0056t0001g0093 |
3 | 154 | 0.0195 | -12 | c.51+ others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33336476 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0032 | a0032c0036 | a0032c0036t0010 | a0032c0036t0010g0088 | 1 | 154 | 0.0065 | -12 | c.51+ others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33336504 | AGGAGGGA others(5): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03195.hp1 |
a0001a0016 | a0001c0058a0016c0020 | a0001c0058t0002a0016c0020t0001 | a0001c0058t0002g0073 a0016c0020t0001g0074 |
2 | 154 | 0.0130 | -12 | c.51+ others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33432668 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0048 | a0048c0109 | a0048c0109t0005 | a0048c0109t0005g0040 | 1 | 154 | 0.0065 | -12 | c.52- others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33437117 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01071.hp2 others(11): Show |
a0002a0005a0006others(9): Show | a0002c0089a0002c0092a0005c0022others(10): Show | a0002c0089t0008a0002c0092t0002a0005c0022t0002others(10): Show | a0002c0089t0008g0130 a0002c0092t0002g0144 a0005c0022t0002g0147 others(11): Show |
14 | 154 | 0.0909 | -12 | c.52- others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33445664 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp2 |
a0004a0034 | a0004c0069a0034c0102 | a0004c0069t0006a0034c0102t0001 | a0004c0069t0006g0009 a0034c0102t0001g0078 |
2 | 154 | 0.0130 | -12 | c.52- others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33464463 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02922.hp2 others(2): Show |
a0005a0009a0010others(2): Show | a0005c0022a0009c0086a0010c0054others(2): Show | a0005c0022t0002a0009c0086t0002a0010c0054t0001others(2): Show | a0005c0022t0002g0147 a0009c0086t0002g0110 a0010c0054t0001g0112 others(2): Show |
5 | 154 | 0.0325 | -12 | c.52- others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33464491 | CACATATA others(5): Show |
C | intron_variant | MODIFIER | NA20905.hp2 | a0021 | a0021c0034 | a0021c0034t0001 | a0021c0034t0001g0091 | 1 | 154 | 0.0065 | -12 | c.52- others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33477877 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02622.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0010a0001c0083a0001c0084others(7): Show | a0001c0010t0001a0001c0083t0001a0001c0084t0003others(7): Show | a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0083t0001g0143 others(8): Show |
11 | 154 | 0.0714 | -12 | c.171 others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 2/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33572654 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02922.hp1 others(4): Show |
a0001a0005a0006others(4): Show | a0001c0047a0005c0040a0006c0062others(4): Show | a0001c0047t0001a0005c0040t0013a0006c0062t0001others(4): Show | a0001c0047t0001g0135 a0005c0040t0013g0145 a0006c0062t0001g0107 others(4): Show |
7 | 154 | 0.0455 | -12 | c.126 others(31): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 12/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33664589 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02055.hp2 others(15): Show |
a0002a0003a0009others(4): Show | a0002c0080a0003c0012a0003c0035others(13): Show | a0002c0080t0002a0003c0012t0003a0003c0035t0004others(13): Show | a0002c0080t0002g0060 a0003c0012t0003g0064 a0003c0012t0003g0113 others(15): Show |
18 | 154 | 0.1169 | -12 | c.561 others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 36/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33705101 | TTCTCTCT others(5): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01496.hp1 others(16): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0015a0001c0099others(16): Show | a0001c0002t0002a0001c0015t0001a0001c0099t0002others(16): Show | a0001c0002t0002g0102 a0001c0015t0001g0077 a0001c0099t0002g0139 others(16): Show |
19 | 154 | 0.1234 | -12 | c.648 others(31): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 42/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |