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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RUNDC3B_chr7_87623398_87837296 | 87626099 | T | TATATA | upstream_gene_variant | MODIFIER | HG02280.hp2 HG03098.hp2 NA18998.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014a0001c0001t0023others(2): Show | a0001c0001t0010g0010 a0001c0001t0014g0157 a0001c0001t0023g0159 others(2): Show |
5 | 202 | 0.0248 | 5 | c.-27 others(16): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2298 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87684746 | C | CAAAAA | intron_variant | MODIFIER | HG02622.hp2 HG02970.hp2 HG03130.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0017a0001c0001t0018others(5): Show | a0001c0001t0002g0165 a0001c0001t0002g0202 a0001c0001t0017g0173 others(7): Show |
10 | 202 | 0.0495 | 5 | c.239 others(24): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87702142 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG01952.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(10): Show | a0001c0001t0002g0027 a0001c0001t0002g0137 a0001c0001t0002g0162 others(16): Show |
19 | 202 | 0.0941 | 5 | c.372 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87736890 | T | TATATA | intron_variant | MODIFIER | HG01433.hp1 HG02040.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0033a0001c0001t0046 | a0001c0001t0016g0129 a0001c0001t0033g0065 a0001c0001t0046g0109 |
3 | 202 | 0.0149 | 5 | c.459 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87773658 | C | CTTGTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(86): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0002g0027 others(86): Show |
89 | 202 | 0.4406 | 5 | c.798 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNX1T1_chr8_91949972_92108385 | 91962276 | A | AAAAAG | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02055.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0003g0113 a0001c0001t0003g0125 a0001c0001t0004g0095 others(17): Show |
20 | 132 | 0.1515 | 5 | c.154 others(24): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 11/11 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 91969499 | T | TAAAAC | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01069.hp2 others(90): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0085 others(90): Show |
93 | 132 | 0.7046 | 5 | c.153 others(24): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 11/11 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 92024497 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0026 a0001c0001t0002g0025 a0001c0001t0005g0028 others(23): Show |
26 | 132 | 0.1970 | 5 | c.89- others(20): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34849336 | A | ATATAC | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00741.hp1 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0054 others(21): Show |
24 | 170 | 0.1412 | 5 | c.613 others(24): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34852169 | A | AAAAAC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0009 a0001c0001t0001g0075 a0001c0001t0001g0111 others(26): Show |
29 | 170 | 0.1706 | 5 | c.613 others(22): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34874610 | C | CAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG01257.hp1 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0042 others(12): Show |
15 | 170 | 0.0882 | 5 | c.508 others(22): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 5/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34896685 | A | AAAAAG | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(53): Show |
56 | 170 | 0.3294 | 5 | c.59- others(20): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34907621 | T | TCCTGA | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00735.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0035 others(7): Show |
10 | 170 | 0.0588 | 5 | c.59- others(22): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34989014 | C | CTCTCT | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01975.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0051 a0001c0001t0001g0107 a0001c0001t0001g0133 others(14): Show |
17 | 170 | 0.1000 | 5 | c.58+ others(22): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34989015 | T | TCTCTC | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG03225.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0025a0001c0002t0003others(2): Show | a0001c0001t0004g0120 a0001c0001t0025g0148 a0001c0002t0003g0142 others(2): Show |
5 | 170 | 0.0294 | 5 | c.58+ others(22): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34996633 | A | ACTCTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00621.hp1 others(70): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0024 others(70): Show |
73 | 170 | 0.4294 | 5 | c.58+ others(22): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX2_chr6_45323330_45556082 | 45383790 | C | CATGTA | intron_variant | MODIFIER | HG02109.hp1 HG02602.hp2 HG03710.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0001a0001c0002t0004 | a0001c0001t0009g0025 a0001c0002t0001g0026 a0001c0002t0004g0027 |
3 | 178 | 0.0169 | 5 | c.59- others(22): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45458022 | A | ATTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01891.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 others(4): Show |
7 | 178 | 0.0393 | 5 | c.685 others(24): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX3_chr1_24894511_24935276 | 24894593 | A | AGTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00609.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0023 others(55): Show |
71 | 386 | 0.1839 | 5 | c.*75 others(16): Show |
RUNX3 | ENSG00000020633.19 | transcript | ENST00000308873.11 | protein_coding | 4917 | chr1 | TogoVar | |||||||
RUVBL1_chr3_128075810_128128812 | 128109809 | A | ATTTTT | intron_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG01978.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0119 a0001c0001t0001g0168 a0001c0001t0001g0169 others(13): Show |
16 | 360 | 0.0444 | 5 | c.361 others(22): Show |
RUVBL1 | ENSG00000175792.12 | transcript | ENST00000322623.10 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
RUVBL1_chr3_128075810_128128812 | 128127537 | C | CTTTCT | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG01255.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0002g0005 others(25): Show |
36 | 360 | 0.1000 | 5 | c.-38 others(16): Show |
RUVBL1 | ENSG00000175792.12 | transcript | ENST00000322623.10 | protein_coding | 3726 | chr3 | TogoVar | |||||||
RUVBL2_chr19_48988887_49020970 | 48990000 | G | GGGGGC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01257.hp1 HG01516.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 others(17): Show |
20 | 412 | 0.0485 | 5 | c.-39 others(16): Show |
RUVBL2 | ENSG00000183207.15 | transcript | ENST00000595090.6 | protein_coding | 3886 | chr19 | TogoVar | |||||||
RUVBL2_chr19_48988887_49020970 | 49010622 | T | TCCTGC | intron_variant | MODIFIER | NA18941.hp2 NA18947.hp1 NA18949.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0088 a0001c0001t0001g0223 a0001c0001t0001g0319 others(9): Show |
13 | 412 | 0.0316 | 5 | c.787 others(18): Show |
RUVBL2 | ENSG00000183207.15 | transcript | ENST00000595090.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RUVBL2_chr19_48988887_49020970 | 49012884 | C | CACACA | intron_variant | MODIFIER | HG01928.hp1 HG02071.hp1 NA19057.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0051 a0001c0002t0001g0125 a0001c0002t0001g0148 |
3 | 412 | 0.0073 | 5 | c.100 others(24): Show |
RUVBL2 | ENSG00000183207.15 | transcript | ENST00000595090.6 | protein_coding | 11/14 | chr19 | TogoVar | |||||||
RWDD3_chr1_95229210_95252225 | 95230609 | C | CTTTTA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(420): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(151): Show |
423 | 430 | 0.9837 | 5 | c.-36 others(16): Show |
RWDD3 | ENSG00000122481.17 | transcript | ENST00000370202.5 | protein_coding | 3600 | chr1 | TogoVar | |||||||
RWDD3_chr1_95229210_95252225 | 95235351 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(29): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0036 others(13): Show |
32 | 430 | 0.0744 | 5 | c.85+ others(20): Show |
RWDD3 | ENSG00000122481.17 | transcript | ENST00000370202.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RWDD4_chr4_183634635_183664185 | 183644784 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(112): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0086 a0001c0001t0002g0199 a0001c0001t0002g0275 others(98): Show |
115 | 480 | 0.2396 | 5 | c.534 others(22): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 7/7 | chr4 | TogoVar | |||||||
RWDD4_chr4_183634635_183664185 | 183648242 | A | AAAAAG | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01123.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0003a0001c0001t0014a0001c0003t0002others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0022 a0001c0001t0003g0087 others(12): Show |
18 | 480 | 0.0375 | 5 | c.481 others(22): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
RWDD4_chr4_183634635_183664185 | 183652361 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG01109.hp2 HG01168.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0305 a0001c0001t0002g0343 a0001c0001t0003g0304 others(20): Show |
25 | 480 | 0.0521 | 5 | c.106 others(22): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158617426 | A | AAATAT | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show |
5 | 210 | 0.0238 | 5 | c.755 others(20): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158623502 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0106 others(6): Show |
9 | 210 | 0.0429 | 5 | c.756 others(22): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31776061 | C | CTTTCT | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01071.hp2 others(30): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0106 others(29): Show |
33 | 386 | 0.0855 | 5 | c.641 others(20): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31783516 | T | TAACTC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(257): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(255): Show |
260 | 386 | 0.6736 | 5 | c.929 others(20): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31783983 | A | ATTTTT | intron_variant | MODIFIER | HG02004.hp2 HG02109.hp2 HG02145.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0013 | a0001c0001t0002a0001c0001t0004a0002c0003t0003others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0001t0002g0026 others(11): Show |
14 | 386 | 0.0363 | 5 | c.929 others(22): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134369105 | G | GAGTGC | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0024 | a0001c0001t0010g0101 a0001c0001t0024g0172 |
2 | 232 | 0.0086 | 5 | c.29- others(22): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
RXRG_chr1_165395922_165450126 | 165427402 | A | ATGTTT | intron_variant | MODIFIER | HG00438.hp1 HG01168.hp2 HG01169.hp1 others(24): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0042 others(16): Show |
27 | 412 | 0.0655 | 5 | c.297 others(22): Show |
RXRG | ENSG00000143171.13 | transcript | ENST00000359842.10 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134216792 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0124 a0001c0001t0001g0169 a0001c0001t0001g0186 others(3): Show |
6 | 376 | 0.0160 | 5 | c.355 others(22): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 2/14 | chr3 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134249917 | G | GTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01496.hp1 HG02559.hp1 others(6): Show |
a0001a0002a0011 | a0001c0001a0002c0003a0011c0009 | a0001c0001t0001a0001c0001t0004a0002c0003t0004others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0004g0196 others(6): Show |
9 | 376 | 0.0239 | 5 | c.232 others(20): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38457045 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(39): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0012others(21): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0001others(21): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0029 others(39): Show |
42 | 218 | 0.1927 | 5 | c.179 others(22): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38463141 | G | GCCCCC | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01169.hp2 others(22): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0015others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0015t0001others(12): Show | a0001c0001t0001g0039 a0001c0001t0001g0075 a0001c0001t0001g0079 others(22): Show |
25 | 218 | 0.1147 | 5 | c.257 others(22): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237043741 | A | AAAAAC | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01168.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0001g0012 a0001c0001t0003g0023 a0001c0001t0007g0011 others(14): Show |
17 | 100 | 0.1700 | 5 | c.48+ others(20): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237073865 | T | TAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01168.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0038a0001c0003t0004a0001c0004t0004others(9): Show | a0001c0001t0038g0026 a0001c0003t0004g0060 a0001c0004t0004g0009 others(9): Show |
12 | 100 | 0.1200 | 5 | c.48+ others(22): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237117671 | C | CCTTCT | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp1 HG02280.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0004a0001c0002t0002a0001c0004t0002others(4): Show | a0001c0001t0004g0036 a0001c0002t0002g0022 a0001c0004t0002g0092 others(4): Show |
7 | 100 | 0.0700 | 5 | c.48+ others(22): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237133924 | C | CAAAAA | intron_variant | MODIFIER | HG03209.hp2 HG03453.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0006a0001c0002t0003a0001c0002t0026others(2): Show | a0001c0001t0006g0025 a0001c0002t0003g0052 a0001c0002t0026g0059 others(2): Show |
5 | 100 | 0.0500 | 5 | c.48+ others(22): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237187443 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00738.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0003a0001c0001t0007a0001c0002t0001others(29): Show | a0001c0001t0003g0023 a0001c0001t0003g0089 a0001c0001t0007g0082 others(30): Show |
33 | 100 | 0.3300 | 5 | 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 | 237237945 | C | CCCTTT | intron_variant | MODIFIER | HG02257.hp1 HG03831.hp1 NA18747.hp2 |
a0001a0002 | a0001c0003a0001c0015a0002c0012 | a0001c0003t0004a0001c0015t0006a0002c0012t0023 | a0001c0003t0004g0016 a0001c0015t0006g0034 a0002c0012t0023g0074 |
3 | 100 | 0.0300 | 5 | 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 | 237259546 | A | AAAGAG | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01109.hp2 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0007g0011 others(10): Show |
13 | 100 | 0.1300 | 5 | 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 | 237268935 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG00738.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0015a0001c0002t0026a0001c0002t0031others(12): Show | a0001c0001t0015g0069 a0001c0002t0026g0059 a0001c0002t0031g0033 others(12): Show |
15 | 100 | 0.1500 | 5 | c.49- others(20): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237297926 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG00738.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0001others(13): Show | a0001c0001t0003g0089 a0001c0001t0004g0036 a0001c0003t0001g0078 others(14): Show |
17 | 100 | 0.1700 | 5 | c.168 others(24): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 2/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237299127 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0005a0001c0016a0001c0030others(1): Show | a0001c0005t0034a0001c0016t0033a0001c0030t0005others(1): Show | a0001c0005t0034g0028 a0001c0016t0033g0024 a0001c0030t0005g0053 others(1): Show |
4 | 100 | 0.0400 | 5 | c.168 others(24): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 2/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |