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 | 16722855 | T | TATATACA others(19): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0041 | 1 | 190 | 0.0053 | 26 | c.599 others(45): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16722869 | T | TATATAGA others(19): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0054 a0001c0001t0012g0057 |
2 | 190 | 0.0105 | 26 | c.599 others(45): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16785433 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0116 | 1 | 190 | 0.0053 | 26 | c.110 others(43): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16785461 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0019 |
2 | 190 | 0.0105 | 26 | c.110 others(43): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
RTL10_chr22_19841146_19859874 | 19847803 | G | GAAAAAAA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG03654.hp1 NA18959.hp2 NA18986.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0012 | 4 | 418 | 0.0096 | 26 | c.*33 others(37): Show |
RTL10 | ENSG00000215012.9 | transcript | ENST00000328554.9 | protein_coding | 3/3 | 3363 | chr22 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112161844 | C | CCTTCTTC others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 | 1 | 134 | 0.0075 | 26 | c.-44 others(47): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112161889 | T | TTTCTTTC others(19): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0115 | 1 | 134 | 0.0075 | 26 | c.-44 others(47): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112190176 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02451.hp1 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0027 a0001c0002t0002g0032 a0001c0002t0002g0042 others(4): Show |
7 | 134 | 0.0522 | 26 | c.-44 others(47): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112226971 | T | TAAATAAA others(19): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02257.hp1 NA19030.hp2 |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0006 | a0001c0002t0007a0002c0001t0001a0004c0006t0002 | a0001c0002t0007g0128 a0002c0001t0001g0014 a0004c0006t0002g0009 |
3 | 134 | 0.0224 | 26 | c.-44 others(47): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59749574 | T | TATAGATA others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 172 | 0.0058 | 26 | c.242 others(43): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN3_chr11_63676500_63764882 | 63685495 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG03209.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0006 | a0002c0002t0001g0019 a0002c0002t0003g0142 a0002c0002t0003g0147 others(3): Show |
6 | 170 | 0.0353 | 26 | c.142 others(43): Show |
RTN3 | ENSG00000133318.14 | transcript | ENST00000377819.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RTN3_chr11_63676500_63764882 | 63735550 | T | TTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 170 | 0.0059 | 26 | c.253 others(47): Show |
RTN3 | ENSG00000133318.14 | transcript | ENST00000377819.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RTN4RL1_chr17_1929677_2030334 | 2007337 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0299 | 1 | 384 | 0.0026 | 26 | c.13+ others(43): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4_chr2_54967189_55055451 | 54981817 | A | ATATGAAT others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(161): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0014others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(149): Show |
164 | 350 | 0.4686 | 26 | c.336 others(43): Show |
RTN4 | ENSG00000115310.19 | transcript | ENST00000337526.11 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
RTN4_chr2_54967189_55055451 | 55022896 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG02148.hp1 NA18952.hp1 NA18953.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0235 others(3): Show |
6 | 350 | 0.0171 | 26 | c.301 others(45): Show |
RTN4 | ENSG00000115310.19 | transcript | ENST00000337526.11 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
RUFY2_chr10_68338408_68412277 | 68366759 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18961.hp1 NA19066.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0225 a0001c0002t0002g0234 a0001c0002t0002g0242 |
3 | 276 | 0.0109 | 26 | c.132 others(45): Show |
RUFY2 | ENSG00000204130.14 | transcript | ENST00000602465.6 | protein_coding | 13/17 | chr10 | TogoVar | |||||||
RUFY3_chr4_70716964_70813619 | 70774644 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0246 | 1 | 254 | 0.0039 | 26 | c.759 others(41): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUFY3_chr4_70716964_70813619 | 70787187 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0221 | 1 | 254 | 0.0039 | 26 | c.107 others(45): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87626091 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0006 | 1 | 202 | 0.0050 | 26 | c.-27 others(37): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2306 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626198 | A | ATTGTCAT others(19): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0076 | 1 | 202 | 0.0050 | 26 | c.-26 others(37): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2199 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626222 | A | ATTGTCAT others(19): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 202 | 0.0050 | 26 | c.-26 others(37): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2175 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626336 | G | GTATATGT others(19): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0133 | 1 | 202 | 0.0050 | 26 | c.-24 others(37): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2061 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626535 | C | CATATATG others(19): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0134 | 1 | 202 | 0.0050 | 26 | c.-22 others(37): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1862 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87652621 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01192.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0021others(5): Show | a0001c0001t0006g0186 a0001c0001t0010g0007 a0001c0001t0010g0008 others(6): Show |
9 | 202 | 0.0446 | 26 | c.238 others(43): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNX1T1_chr8_91949972_92108385 | 92060553 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03491.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0067a0001c0001t0070a0001c0001t0089 | a0001c0001t0067g0039 a0001c0001t0070g0034 a0001c0001t0089g0035 |
3 | 132 | 0.0227 | 26 | c.88+ others(43): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 92060553 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0034a0001c0004t0027 | a0001c0001t0034g0001 a0001c0004t0027g0002 |
2 | 132 | 0.0152 | 26 | c.88+ others(43): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34909588 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 170 | 0.0059 | 26 | c.59- others(43): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34930270 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 170 | 0.0059 | 26 | c.59- others(43): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34930270 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 170 | 0.0059 | 26 | c.59- others(43): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34967319 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01934.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0021 a0001c0001t0004g0120 |
2 | 170 | 0.0118 | 26 | c.59- others(43): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX2_chr6_45323330_45556082 | 45485695 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG01069.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0076 a0001c0001t0001g0080 others(7): Show |
10 | 178 | 0.0562 | 26 | c.686 others(43): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45485697 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01978.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070 a0001c0001t0001g0142 a0001c0001t0002g0173 |
3 | 178 | 0.0169 | 26 | c.686 others(43): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45485697 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | HG02723.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0130 a0001c0001t0008g0160 |
2 | 178 | 0.0112 | 26 | c.686 others(43): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RWDD4_chr4_183634635_183664185 | 183643415 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02818.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0154 |
3 | 480 | 0.0063 | 26 | c.535 others(43): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 7/7 | chr4 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158527560 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 210 | 0.0048 | 26 | c.49+ others(41): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158542109 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02698.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0119 |
2 | 210 | 0.0095 | 26 | c.49+ others(43): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158542109 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03239.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0121 a0001c0001t0001g0137 |
3 | 210 | 0.0143 | 26 | c.49+ others(43): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158542109 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 210 | 0.0048 | 26 | c.49+ others(43): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158542109 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 210 | 0.0048 | 26 | c.49+ others(43): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134388286 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01243.hp1 HG02451.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0060others(1): Show | a0001c0001t0003g0166 a0001c0001t0008g0038 a0001c0001t0060g0210 others(1): Show |
4 | 232 | 0.0172 | 26 | c.29- others(43): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38520693 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0023 | a0023c0047 | a0023c0047t0002 | a0023c0047t0002g0202 | 1 | 218 | 0.0046 | 26 | c.102 others(47): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237148531 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0007 | a0001c0007t0016 | a0001c0007t0016g0042 | 1 | 100 | 0.0100 | 26 | c.48+ others(45): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237148533 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03209.hp1 |
a0001 | a0001c0008a0001c0022 | a0001c0008t0027a0001c0022t0014 | a0001c0008t0027g0081 a0001c0022t0014g0066 |
2 | 100 | 0.0200 | 26 | c.48+ others(45): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237436454 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01361.hp1 |
a0001a0002 | a0001c0003a0002c0009 | a0001c0003t0005a0002c0009t0002 | a0001c0003t0005g0018 a0002c0009t0002g0079 |
2 | 100 | 0.0200 | 26 | c.100 others(45): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 12/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237473431 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0022 | a0001c0022t0014 | a0001c0022t0014g0066 | 1 | 100 | 0.0100 | 26 | c.170 others(45): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 17/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237623385 | T | TTCTTTCT others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02523.hp2 HG03098.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0011a0001c0049others(1): Show | a0001c0002t0001a0001c0011t0044a0001c0049t0009others(2): Show | a0001c0002t0001g0070 a0001c0011t0044g0054 a0001c0049t0009g0044 others(2): Show |
5 | 100 | 0.0500 | 26 | c.591 others(43): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 38/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237641473 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0009 | 1 | 100 | 0.0100 | 26 | c.722 others(43): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 47/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33432668 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0023 | a0023c0108 | a0023c0108t0003 | a0023c0108t0003g0003 | 1 | 154 | 0.0065 | 26 | c.52- others(43): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33464467 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0013 | a0013c0057 | a0013c0057t0003 | a0013c0057t0003g0082 | 1 | 154 | 0.0065 | 26 | c.52- others(41): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33464489 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0051 a0001c0010t0001g0142 |
2 | 154 | 0.0130 | 26 | c.52- others(41): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |