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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RTN4IP1_chr6_106565771_106634498 | 106616566 | CAATAGCT | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(133): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0002others(8): Show | a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0011 others(120): Show |
136 | 394 | 0.3452 | -7 | c.620 others(24): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1980926 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0011 | a0001c0001t0011a0001c0001t0025a0001c0001t0093others(3): Show | a0001c0001t0011g0108 a0001c0001t0025g0226 a0001c0001t0093g0090 others(3): Show |
6 | 55 | 0.1091 | -7 | c.14- others(24): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTP1_chr3_187192486_187206462 | 187204284 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02040.hp1 HG02109.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0004 | a0001c0001t0001g0001 a0001c0001t0003g0001 a0002c0002t0004g0001 |
14 | 216 | 0.0648 | -7 | c.*42 others(18): Show |
RTP1 | ENSG00000175077.6 | transcript | ENST00000312295.5 | protein_coding | 2823 | chr3 | TogoVar | |||||||
RTTN_chr18_69998031_70210687 | 70147381 | AGCAATAG | A | intron_variant | MODIFIER | NA18522.hp2 NA21309.hp1 |
a0004 | a0004c0025a0004c0026 | a0004c0025t0001a0004c0026t0004 | a0004c0025t0001g0144 a0004c0026t0004g0143 |
2 | 154 | 0.0130 | -7 | c.230 others(26): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 17/48 | chr18 | TogoVar | |||||||
RUBCNL_chr13_46329681_46392252 | 46335254 | GTTGTTGT | G | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG02258.hp2 HG02280.hp1 others(6): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0007a0001c0001t0065a0001c0001t0069others(1): Show | a0001c0001t0007g0227 a0001c0001t0007g0253 a0001c0001t0007g0255 others(6): Show |
9 | 284 | 0.0317 | -7 | c.*81 others(18): Show |
RUBCNL | ENSG00000102445.20 | transcript | ENST00000429979.6 | protein_coding | 15/15 | 8124 | chr13 | TogoVar | ||||||
RUBCN_chr3_197663867_197741904 | 197711329 | GATGGTAC | G | intron_variant | MODIFIER | HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0010 | a0001c0010t0020a0001c0010t0026 | a0001c0010t0020g0176 a0001c0010t0026g0177 |
2 | 184 | 0.0109 | -7 | c.220 others(24): Show |
RUBCN | ENSG00000145016.17 | transcript | ENST00000296343.10 | protein_coding | 2/19 | chr3 | TogoVar | |||||||
RUBCN_chr3_197663867_197741904 | 197730885 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG02602.hp2 HG02630.hp2 others(7): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0006a0003c0004t0018a0003c0004t0030others(2): Show | a0003c0004t0006g0165 a0003c0004t0006g0166 a0003c0004t0006g0168 others(7): Show |
10 | 61 | 0.1639 | -7 | c.65+ others(22): Show |
RUBCN | ENSG00000145016.17 | transcript | ENST00000296343.10 | protein_coding | 1/19 | chr3 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179567055 | AAAAAAAT | A | intron_variant | MODIFIER | HG02630.hp2 HG03195.hp2 HG03471.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0010t0002others(2): Show | a0001c0001t0002g0195 a0001c0002t0002g0353 a0001c0010t0002g0194 others(2): Show |
5 | 374 | 0.0134 | -7 | c.603 others(22): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179597719 | TGAGAGAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00733.hp1 others(30): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0005t0002 | a0001c0003t0002g0053 a0001c0003t0002g0216 a0001c0003t0002g0217 others(30): Show |
33 | 374 | 0.0882 | -7 | c.163 others(24): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY2_chr10_68338408_68412277 | 68370448 | CTTTTTTT | C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02615.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0012a0001c0001t0020a0001c0001t0022others(2): Show | a0001c0001t0012g0270 a0001c0001t0012g0271 a0001c0001t0012g0272 others(5): Show |
8 | 171 | 0.0468 | -7 | c.132 others(26): Show |
RUFY2 | ENSG00000204130.14 | transcript | ENST00000602465.6 | protein_coding | 13/17 | chr10 | TogoVar | |||||||
RUFY2_chr10_68338408_68412277 | 68398126 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01884.hp2 others(14): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0002t0010a0001c0002t0014others(6): Show | a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0010g0179 others(13): Show |
17 | 209 | 0.0813 | -7 | c.297 others(24): Show |
RUFY2 | ENSG00000204130.14 | transcript | ENST00000602465.6 | protein_coding | 3/17 | chr10 | TogoVar | |||||||
RUFY3_chr4_70716964_70813619 | 70759355 | TTTGTGTG | T | intron_variant | MODIFIER | HG00673.hp1 HG01123.hp1 HG03654.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0031 | a0001c0001t0004g0069 a0001c0001t0004g0072 a0001c0001t0004g0074 others(7): Show |
10 | 246 | 0.0407 | -7 | c.179 others(24): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUFY3_chr4_70716964_70813619 | 70767259 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00673.hp1 others(49): Show |
a0001a0002a0005 | a0001c0001a0002c0005a0005c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0018 others(49): Show |
52 | 178 | 0.2921 | -7 | c.573 others(24): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUNX1T1_chr8_91949972_92108385 | 91977800 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0020others(3): Show | a0001c0001t0001g0113 a0001c0001t0005g0095 a0001c0001t0005g0096 others(8): Show |
11 | 130 | 0.0846 | -7 | c.128 others(26): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 9/11 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 92012831 | AAGTCTGC | A | intron_variant | MODIFIER | HG01496.hp2 HG03239.hp2 HG03688.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(3): Show | a0001c0001t0002g0026 a0001c0001t0010g0025 a0001c0001t0019g0041 others(3): Show |
6 | 130 | 0.0462 | -7 | c.468 others(24): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34838214 | ATCTGTGG | A | intron_variant | MODIFIER | HG00639.hp2 HG01975.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0007g0015 others(3): Show |
6 | 168 | 0.0357 | -7 | c.614 others(24): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34842020 | GAGTACTC | G | intron_variant | MODIFIER | HG00639.hp2 HG01975.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0007g0015 others(3): Show |
6 | 168 | 0.0357 | -7 | c.614 others(24): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34849366 | ATATATAC | A | intron_variant | MODIFIER | HG02559.hp1 HG02976.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0025others(1): Show | a0001c0001t0001g0086 a0001c0001t0005g0073 a0001c0001t0005g0074 others(3): Show |
6 | 167 | 0.0359 | -7 | c.613 others(26): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34854754 | ACGGGCTG | A | intron_variant | MODIFIER | HG00741.hp2 HG02886.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0112 a0001c0001t0002g0088 a0001c0002t0003g0120 others(1): Show |
4 | 168 | 0.0238 | -7 | c.613 others(24): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34876854 | CTTTTTCT | C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01071.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(33): Show |
36 | 168 | 0.2143 | -7 | c.508 others(24): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 5/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34996277 | CTCTGCCT | C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0051 others(26): Show |
29 | 168 | 0.1726 | -7 | c.58+ others(24): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 35005738 | ATGGCTTT | A | intron_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0022g0054 |
3 | 168 | 0.0179 | -7 | c.58+ others(24): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX2_chr6_45323330_45556082 | 45508220 | CTTTTTTT | C | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0127 others(2): Show |
5 | 111 | 0.0450 | -7 | c.860 others(24): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35498858 | AAAAAAAG | A | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG03139.hp1 others(2): Show |
a0002 | a0002c0003a0002c0009 | a0002c0003t0004a0002c0009t0004 | a0002c0003t0004g0117 a0002c0003t0004g0126 a0002c0003t0004g0127 others(2): Show |
5 | 320 | 0.0156 | -7 | c.-93 others(24): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RUVBL1_chr3_128075810_128128812 | 128109809 | ATTTTTTT | A | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0065 a0001c0001t0002g0066 others(2): Show |
8 | 63 | 0.1270 | -7 | c.361 others(24): Show |
RUVBL1 | ENSG00000175792.12 | transcript | ENST00000322623.10 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158540158 | GTGAAAGC | G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA19030.hp2 |
a0003a0006 | a0003c0003a0006c0005 | a0003c0003t0001a0006c0005t0002 | a0003c0003t0001g0005 a0003c0003t0001g0006 a0006c0005t0002g0207 |
3 | 208 | 0.0144 | -7 | c.49+ others(24): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158542098 | TATATATA | T | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0184 a0001c0001t0001g0191 |
4 | 208 | 0.0192 | -7 | c.49+ others(24): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
RXFP2_chr13_31734526_31808389 | 31797072 | TTCCGAAA | T | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0003a0001c0015t0003 | a0001c0001t0001g0021 a0001c0001t0001g0224 a0001c0001t0003g0100 others(2): Show |
5 | 384 | 0.0130 | -7 | c.178 others(24): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134417551 | GCAGGGGC | G | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0044 | a0001c0001t0009g0098 a0001c0001t0009g0130 a0001c0001t0009g0137 others(2): Show |
5 | 230 | 0.0217 | -7 | c.780 others(22): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RYK_chr3_134152133_134255859 | 134216792 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00741.hp1 others(13): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0052 others(13): Show |
16 | 108 | 0.1481 | -7 | c.355 others(24): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 2/14 | chr3 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38457045 | CCAAAAAA | C | intron_variant | MODIFIER | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(5): Show |
a0001 | a0001c0009a0001c0018a0001c0031others(2): Show | a0001c0009t0001a0001c0018t0001a0001c0031t0001others(2): Show | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0009t0001g0201 others(5): Show |
8 | 94 | 0.0851 | -7 | c.179 others(24): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38462891 | CTTTTTTT | C | intron_variant | MODIFIER | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(4): Show |
a0001a0007 | a0001c0011a0001c0058a0001c0070others(1): Show | a0001c0011t0001a0001c0058t0001a0001c0070t0001others(1): Show | a0001c0011t0001g0003 a0001c0011t0001g0004 a0001c0058t0001g0002 others(4): Show |
7 | 23 | 0.3043 | -7 | c.257 others(24): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38566448 | CAAAAAAA | C | intron_variant | MODIFIER | HG01978.hp2 HG02074.hp2 HG02148.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0030others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0030t0001others(4): Show | a0001c0002t0001g0135 a0001c0003t0001g0045 a0001c0003t0001g0053 others(5): Show |
8 | 83 | 0.0964 | -7 | c.134 others(26): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237082297 | CTAAGCAT | C | intron_variant | MODIFIER | HG01099.hp2 HG02451.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0035a0001c0004t0027a0001c0007t0016others(5): Show | a0001c0001t0035g0026 a0001c0004t0027g0005 a0001c0007t0016g0042 others(5): Show |
8 | 100 | 0.0800 | -7 | c.48+ others(24): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237157295 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG01168.hp2 HG01361.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(9): Show | a0001c0001t0001g0099 a0001c0001t0007g0011 a0001c0002t0002g0022 others(9): Show |
12 | 42 | 0.2857 | -7 | c.49- others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237262245 | GTTTTTTT | G | intron_variant | MODIFIER | HG00609.hp2 HG01109.hp2 HG01243.hp2 others(9): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(9): Show | a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0007g0011 others(9): Show |
12 | 17 | 0.7059 | -7 | c.49- others(22): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237345453 | CAAAAAAT | C | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0038a0001c0002t0003others(5): Show | a0001c0001t0001g0099 a0001c0001t0038g0001 a0001c0002t0003g0008 others(5): Show |
8 | 100 | 0.0800 | -7 | c.274 others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 3/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237522999 | AAAATGAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG00738.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(20): Show | a0001c0001t0003g0023 a0001c0001t0003g0088 a0001c0001t0003g0100 others(24): Show |
27 | 100 | 0.2700 | -7 | c.282 others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237525452 | GTTTGTTT | G | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01099.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(16): Show | a0001c0001t0001g0012 a0001c0001t0004g0036 a0001c0001t0007g0011 others(16): Show |
19 | 100 | 0.1900 | -7 | c.282 others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237608796 | GTTTTTTT | G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01243.hp2 others(12): Show |
a0001a0002a0006 | a0001c0002a0001c0005a0001c0007others(10): Show | a0001c0002t0001a0001c0002t0023a0001c0005t0014others(12): Show | a0001c0002t0001g0070 a0001c0002t0023g0059 a0001c0005t0014g0004 others(12): Show |
15 | 25 | 0.6000 | -7 | c.468 others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 35/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237636012 | ACTGAAAC | A | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01168.hp1 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0007a0001c0001t0015a0001c0001t0035others(16): Show | a0001c0001t0007g0011 a0001c0001t0007g0082 a0001c0001t0015g0069 others(17): Show |
20 | 100 | 0.2000 | -7 | c.679 others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 44/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237801367 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG02922.hp1 HG03471.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0030a0002c0012others(2): Show | a0001c0003t0002a0001c0030t0005a0002c0012t0020others(2): Show | a0001c0003t0002g0065 a0001c0030t0005g0053 a0002c0012t0020g0074 others(2): Show |
5 | 27 | 0.1852 | -7 | c.140 others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 97/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237814965 | CTTTTTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01261.hp2 HG02280.hp2 others(2): Show |
a0001a0002 | a0001c0004a0001c0008a0001c0010others(2): Show | a0001c0004t0027a0001c0008t0039a0001c0010t0004others(2): Show | a0001c0004t0027g0005 a0001c0008t0039g0002 a0001c0010t0004g0097 others(2): Show |
5 | 65 | 0.0769 | -7 | c.144 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 100/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33324145 | TGCCTTGG | T | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG01884.hp2 others(26): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0015a0001c0084others(26): Show | a0001c0002t0007a0001c0015t0001a0001c0084t0003others(26): Show | a0001c0002t0007g0146 a0001c0015t0001g0118 a0001c0084t0003g0059 others(26): Show |
29 | 152 | 0.1908 | -7 | c.51+ others(24): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33336447 | AGAGAGAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG03195.hp2 others(1): Show |
a0001a0004a0040 | a0001c0004a0001c0005a0004c0069others(1): Show | a0001c0004t0001a0001c0005t0001a0004c0069t0006others(1): Show | a0001c0004t0001g0036 a0001c0005t0001g0005 a0004c0069t0006g0009 others(1): Show |
4 | 136 | 0.0294 | -7 | c.51+ others(24): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33527268 | TTAAAAAA | T | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp1 HG03195.hp2 others(1): Show |
a0033a0037a0040others(1): Show | a0033c0066a0037c0039a0040c0038others(1): Show | a0033c0066t0002a0037c0039t0001a0040c0038t0008others(1): Show | a0033c0066t0002g0004 a0037c0039t0001g0053 a0040c0038t0008g0015 others(1): Show |
4 | 152 | 0.0263 | -7 | c.280 others(24): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 3/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33553594 | TAAGGAGC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(121): Show |
a0001a0002a0003others(46): Show | a0001c0003a0001c0004a0001c0010others(105): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(111): Show | a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0002g0037 others(121): Show |
124 | 152 | 0.8158 | -7 | c.972 others(24): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 10/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33602733 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02615.hp1 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0010a0001c0037a0001c0046others(8): Show | a0001c0010t0001a0001c0037t0003a0001c0046t0011others(8): Show | a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0037t0003g0089 others(9): Show |
12 | 39 | 0.3077 | -7 | c.192 others(24): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 17/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33766295 | AAAAAAAG | A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02451.hp1 others(5): Show |
a0015a0026a0028others(4): Show | a0015c0059a0015c0103a0026c0117others(5): Show | a0015c0059t0001a0015c0103t0002a0026c0117t0002others(5): Show | a0015c0059t0001g0063 a0015c0103t0002g0131 a0026c0117t0002g0123 others(5): Show |
8 | 152 | 0.0526 | -7 | c.870 others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 60/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33771105 | TCTCTTTC | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02451.hp2 others(8): Show |
a0001a0003a0005others(3): Show | a0001c0046a0001c0058a0003c0035others(7): Show | a0001c0046t0011a0001c0058t0002a0003c0035t0004others(7): Show | a0001c0046t0011g0066 a0001c0058t0002g0073 a0003c0035t0004g0107 others(8): Show |
11 | 152 | 0.0724 | -7 | c.881 others(24): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 62/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |