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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RSU1_chr10_16585611_16822424 | 16770957 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG02486.hp1 HG03098.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0024others(3): Show | a0001c0001t0005g0162 a0001c0001t0006g0167 a0001c0001t0024g0116 others(4): Show |
7 | 82 | 0.0854 | -9 | c.161 others(26): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
RTBDN_chr19_12820482_12839579 | 12832792 | GCCGTCGC others(2): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG02135.hp1 NA18951.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0046 |
7 | 428 | 0.0164 | -9 | c.-19 others(26): Show |
RTBDN | ENSG00000132026.15 | transcript | ENST00000674343.2 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
RTL1_chr14_100874753_100908722 | 100886738 | TGAAATAC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(21): Show |
a0003a0009 | a0003c0005a0003c0011a0003c0022others(1): Show | a0003c0005t0003a0003c0005t0005a0003c0005t0007others(4): Show | a0003c0005t0003g0105 a0003c0005t0005g0070 a0003c0005t0005g0081 others(19): Show |
24 | 428 | 0.0561 | -9 | c.-86 others(26): Show |
RTL1 | ENSG00000254656.3 | transcript | ENST00000649591.1 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112437802 | ATGGTGGT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01069.hp1 others(29): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(4): Show | a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0005 others(29): Show |
32 | 70 | 0.4571 | -9 | c.-23 others(28): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL5_chrX_72122110_72136915 | 72125070 | GTCTGTGA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(101): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0017others(9): Show | a0001c0001t0001g0000 a0001c0001t0011g0000 a0001c0001t0017g0000 others(9): Show |
104 | 306 | 0.3399 | -9 | c.*47 others(20): Show |
RTL5 | ENSG00000242732.6 | transcript | ENST00000609883.3 | protein_coding | 2039 | chrX | TogoVar | |||||||
RTL8A_chrX_135045932_135057135 | 135055285 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01099.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 224 | 0.0179 | -9 | c.-31 others(20): Show |
RTL8A | ENSG00000203950.7 | transcript | ENST00000370775.3 | protein_coding | 3151 | chrX | TogoVar | |||||||
RTL9_chrX_110353848_110461334 | 110367973 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02717.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0003g0115 a0001c0002t0002g0117 a0001c0002t0002g0118 others(3): Show |
6 | 36 | 0.1667 | -9 | c.-16 others(28): Show |
RTL9 | ENSG00000243978.9 | transcript | ENST00000520821.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59861615 | CTAACTGG others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0085 |
2 | 170 | 0.0118 | -9 | c.241 others(26): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN2_chr19_45480294_45502047 | 45491360 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00597.hp2 others(47): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0004t0004others(3): Show | a0001c0001t0004g0002 a0001c0001t0004g0011 a0001c0001t0004g0018 others(19): Show |
50 | 356 | 0.1404 | -9 | c.103 others(28): Show |
RTN2 | ENSG00000125744.12 | transcript | ENST00000245923.9 | protein_coding | 5/10 | chr19 | TogoVar | |||||||
RTN2_chr19_45480294_45502047 | 45496962 | AGCCGCCG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00673.hp2 others(49): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 a0001c0002t0003g0016 a0001c0002t0003g0017 others(22): Show |
52 | 268 | 0.1940 | -9 | c.-14 others(18): Show |
RTN2 | ENSG00000125744.12 | transcript | ENST00000245923.9 | protein_coding | 1/11 | 138 | chr19 | TogoVar | ||||||
RTN4IP1_chr6_106565771_106634498 | 106605814 | CCCAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02738.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0158 others(1): Show |
4 | 94 | 0.0426 | -9 | c.621 others(26): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1967248 | GACAAAAC others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG00673.hp2 others(92): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0114 a0001c0001t0001g0173 a0001c0001t0001g0205 others(91): Show |
95 | 382 | 0.2487 | -9 | c.14- others(26): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1970011 | CTCTCTCT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(103): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(103): Show |
106 | 380 | 0.2789 | -9 | c.14- others(26): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1972060 | CCCAGGAG others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG03654.hp1 HG03927.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0028 | a0001c0002t0004g0030 a0001c0002t0004g0235 a0001c0002t0028g0062 |
3 | 382 | 0.0079 | -9 | c.14- others(26): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4R_chr22_20236415_20273318 | 20273035 | GGGCAGGG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(210): Show |
313 | 390 | 0.8026 | -9 | c.-49 others(20): Show |
RTN4R | ENSG00000040608.14 | transcript | ENST00000043402.8 | protein_coding | 4718 | chr22 | TogoVar | |||||||
RTP4_chr3_187363385_187377076 | 187365664 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02559.hp1 others(3): Show |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0003 | 6 | 116 | 0.0517 | -9 | c.-27 others(20): Show |
RTP4 | ENSG00000136514.3 | transcript | ENST00000259030.3 | protein_coding | 2720 | chr3 | TogoVar | |||||||
RTTN_chr18_69998031_70210687 | 70163069 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0005a0001c0010 | a0001c0005t0001a0001c0005t0002a0001c0010t0001others(1): Show | a0001c0005t0001g0109 a0001c0005t0001g0110 a0001c0005t0001g0111 others(4): Show |
7 | 19 | 0.3684 | -9 | c.192 others(28): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 14/48 | chr18 | TogoVar | |||||||
RTTN_chr18_69998031_70210687 | 70184703 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0002 | a0001c0005t0001g0109 a0001c0005t0001g0110 a0001c0005t0001g0111 others(4): Show |
7 | 109 | 0.0642 | -9 | c.130 others(28): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 10/48 | chr18 | TogoVar | |||||||
RUBCN_chr3_197663867_197741904 | 197717229 | TTGAGACC others(2): Show |
T | intron_variant | MODIFIER | HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0010 | a0001c0010t0020a0001c0010t0026 | a0001c0010t0020g0176 a0001c0010t0026g0177 |
2 | 184 | 0.0109 | -9 | c.219 others(24): Show |
RUBCN | ENSG00000145016.17 | transcript | ENST00000296343.10 | protein_coding | 2/19 | chr3 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179577859 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(177): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 others(177): Show |
180 | 184 | 0.9783 | -9 | c.890 others(24): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179595176 | TTACTAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01071.hp1 others(21): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0012 | a0001c0001t0001a0001c0004t0003a0004c0012t0003 | a0001c0001t0001g0171 a0001c0004t0003g0172 a0001c0004t0003g0173 others(21): Show |
24 | 374 | 0.0642 | -9 | c.151 others(26): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY3_chr4_70716964_70813619 | 70774641 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0021 | a0001c0001t0011g0228 a0001c0001t0011g0232 a0001c0001t0011g0234 others(2): Show |
5 | 251 | 0.0199 | -9 | c.759 others(24): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUFY3_chr4_70716964_70813619 | 70778573 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00597.hp1 others(57): Show |
a0001a0002a0005 | a0001c0001a0002c0005a0005c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0017 others(57): Show |
60 | 201 | 0.2985 | -9 | c.894 others(24): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUNDC3A_chr17_44303601_44323670 | 44306893 | AAACAACA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG01069.hp2 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 a0001c0002t0001g0018 a0001c0002t0001g0035 others(7): Show |
25 | 129 | 0.1938 | -9 | c.-19 others(20): Show |
RUNDC3A | ENSG00000108309.14 | transcript | ENST00000426726.8 | protein_coding | 1707 | chr17 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626750 | GTCATATA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01074.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0064 others(13): Show |
16 | 200 | 0.0800 | -9 | c.-20 others(20): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1647 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626764 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0006g0186 a0001c0001t0009g0002 a0001c0001t0009g0190 others(13): Show |
16 | 199 | 0.0804 | -9 | c.-20 others(20): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1633 | chr7 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 92009850 | CGAAAAGA others(2): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0063 | a0001c0001t0012g0054 a0001c0001t0063g0063 |
2 | 130 | 0.0154 | -9 | c.558 others(26): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 5/11 | chr8 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34936158 | AGTGCTGT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01109.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0039 a0001c0001t0001g0044 others(22): Show |
25 | 168 | 0.1488 | -9 | c.59- others(26): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX2_chr6_45323330_45556082 | 45399349 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01192.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0133 a0001c0001t0001g0164 others(8): Show |
11 | 66 | 0.1667 | -9 | c.59- others(26): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45414754 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0004 others(2): Show |
5 | 15 | 0.3333 | -9 | c.59- others(24): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35490116 | ACGCCGCC others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(70): Show |
a0001a0004a0008 | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 others(64): Show |
73 | 319 | 0.2288 | -9 | c.-13 others(18): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/12 | 56383 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RWDD2B_chr21_28999384_29024349 | 29003605 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 a0001c0001t0005g0181 |
7 | 38 | 0.1842 | -9 | c.*28 others(20): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 778 | chr21 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134216402 | ACGAATTC others(2): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02717.hp1 HG02809.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 |
3 | 374 | 0.0080 | -9 | c.355 others(26): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 2/14 | chr3 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237065288 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(72): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(35): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(64): Show | a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0023 others(72): Show |
75 | 100 | 0.7500 | -9 | c.48+ others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237414991 | GAGAACTC others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(67): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(60): Show | a0001c0001t0001g0099 a0001c0001t0003g0088 a0001c0001t0006g0025 others(67): Show |
70 | 100 | 0.7000 | -9 | c.774 others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 10/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237511834 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
a0001a0004 | a0001c0005a0001c0007a0001c0040others(1): Show | a0001c0005t0014a0001c0007t0016a0001c0040t0036others(1): Show | a0001c0005t0014g0004 a0001c0007t0016g0042 a0001c0040t0036g0095 others(1): Show |
4 | 70 | 0.0571 | -9 | c.282 others(24): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237521546 | CCTGTCTC others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG00738.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(25): Show | a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0003g0088 others(29): Show |
32 | 100 | 0.3200 | -9 | c.282 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237527786 | ACTGTAAA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00738.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(24): Show | a0001c0001t0003g0023 a0001c0001t0003g0088 a0001c0001t0003g0100 others(28): Show |
31 | 100 | 0.3100 | -9 | c.282 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237556279 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035 | a0001c0001t0001g0099 a0001c0001t0035g0026 |
2 | 8 | 0.2500 | -9 | c.321 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237556880 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0001a0001c0001t0007a0001c0001t0035others(2): Show | a0001c0001t0001g0099 a0001c0001t0007g0011 a0001c0001t0035g0026 others(2): Show |
5 | 36 | 0.1389 | -9 | c.321 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237631613 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02523.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0007a0001c0004t0011a0001c0005t0014others(1): Show | a0001c0001t0007g0082 a0001c0004t0011g0047 a0001c0005t0014g0004 others(1): Show |
4 | 9 | 0.4444 | -9 | c.655 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 42/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237819619 | AGACCAGC others(2): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG03471.hp2 NA21309.hp2 |
a0001a0002 | a0001c0029a0002c0031a0002c0035 | a0001c0029t0008a0002c0031t0022a0002c0035t0018 | a0001c0029t0008g0089 a0002c0031t0022g0056 a0002c0035t0018g0010 |
3 | 100 | 0.0300 | -9 | c.145 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 101/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33602733 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00735.hp1 others(7): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0003a0001c0079others(7): Show | a0001c0001t0010a0001c0003t0006a0001c0079t0006others(7): Show | a0001c0001t0010g0094 a0001c0003t0006g0029 a0001c0079t0006g0038 others(7): Show |
10 | 37 | 0.2703 | -9 | c.192 others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 17/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33772296 | AAAGAAGA others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02717.hp1 others(1): Show |
a0026a0028a0034others(1): Show | a0026c0117a0028c0114a0034c0104others(1): Show | a0026c0117t0002a0028c0114t0003a0034c0104t0002others(1): Show | a0026c0117t0002g0123 a0028c0114t0003g0011 a0034c0104t0002g0135 others(1): Show |
4 | 110 | 0.0364 | -9 | c.905 others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 63/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
S100A7A_chr1_153411520_153428222 | 153426808 | AAAAAAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02895.hp1 HG02896.hp1 others(2): Show |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0009a0009c0009t0014 | a0002c0002t0009g0009 a0009c0009t0014g0061 |
5 | 420 | 0.0119 | -9 | c.*75 others(20): Show |
S100A7A | ENSG00000184330.12 | transcript | ENST00000368729.9 | protein_coding | 3587 | chr1 | TogoVar | |||||||
S100P_chr4_6688878_6702170 | 6701096 | TTTATTAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(3): Show |
15 | 121 | 0.1240 | -9 | c.*40 others(20): Show |
S100P | ENSG00000163993.7 | transcript | ENST00000296370.4 | protein_coding | 3927 | chr4 | TogoVar | |||||||
S100Z_chr5_76845014_76926650 | 76888367 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02895.hp1 HG02897.hp2 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0003 | a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0124 others(3): Show |
6 | 112 | 0.0536 | -9 | c.*2+ others(26): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
S1PR2_chr19_10216433_10236331 | 10223168 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01952.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0041a0001c0002t0054a0001c0004t0018 | a0001c0002t0041g0109 a0001c0002t0054g0100 a0001c0004t0018g0019 |
6 | 36 | 0.1667 | -9 | c.*66 others(18): Show |
S1PR2 | ENSG00000267534.4 | transcript | ENST00000646641.1 | protein_coding | 2/2 | 667 | chr19 | TogoVar | ||||||
SACM1L_chr3_45684396_45750409 | 45697269 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01243.hp1 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0004a0001c0003t0002a0001c0003t0015others(1): Show | a0001c0002t0004g0102 a0001c0003t0002g0022 a0001c0003t0002g0031 others(9): Show |
14 | 186 | 0.0753 | -9 | c.33- others(24): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SACS_chr13_23323830_23438702 | 23409040 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01884.hp2 HG02135.hp2 others(18): Show |
a0001a0002a0028 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0002a0001c0002t0028a0001c0003t0004others(8): Show | a0001c0002t0002g0016 a0001c0002t0002g0122 a0001c0002t0002g0129 others(18): Show |
21 | 28 | 0.7500 | -9 | c.20+ others(24): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar |