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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RYR1_chr19_38428691_38592564 | 38468044 | TCCATCAT others(1): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03139.hp1 HG03139.hp2 others(3): Show |
a0004a0008a0012others(1): Show | a0004c0047a0008c0010a0012c0113others(1): Show | a0004c0047t0002a0008c0010t0001a0012c0113t0001others(1): Show | a0004c0047t0002g0205 a0008c0010t0001g0006 a0008c0010t0001g0007 others(3): Show |
6 | 218 | 0.0275 | -8 | c.338 others(25): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38468095 | ACCATCCA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(114): Show |
a0001a0003a0004others(19): Show | a0001c0001a0001c0002a0001c0003others(51): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(52): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(114): Show |
117 | 218 | 0.5367 | -8 | c.338 others(25): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38484402 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG03453.hp1 HG03471.hp1 HG03471.hp2 |
a0007 | a0007c0037a0007c0038a0007c0039 | a0007c0037t0002a0007c0038t0002a0007c0039t0001 | a0007c0037t0002g0214 a0007c0038t0002g0215 a0007c0039t0001g0031 |
3 | 218 | 0.0138 | -8 | c.493 others(25): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38518401 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01099.hp2 others(24): Show |
a0001a0002a0004others(8): Show | a0001c0019a0001c0022a0001c0029others(19): Show | a0001c0019t0002a0001c0022t0001a0001c0029t0001others(19): Show | a0001c0019t0002g0217 a0001c0022t0001g0051 a0001c0022t0001g0052 others(24): Show |
27 | 218 | 0.1239 | -8 | c.100 others(27): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38549875 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00639.hp1 others(17): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0004a0001c0009others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(9): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(17): Show |
20 | 218 | 0.0917 | -8 | c.122 others(29): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38566448 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01169.hp2 others(14): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0036others(8): Show | a0001c0001t0001a0001c0004t0001a0001c0036t0001others(8): Show | a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0001g0145 others(14): Show |
17 | 218 | 0.0780 | -8 | c.134 others(27): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38590965 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02615.hp2 HG03130.hp2 others(6): Show |
a0001a0004a0007others(4): Show | a0001c0110a0004c0015a0004c0072others(5): Show | a0001c0110t0001a0004c0015t0001a0004c0072t0001others(5): Show | a0001c0110t0001g0157 a0004c0015t0001g0098 a0004c0015t0001g0187 others(6): Show |
9 | 218 | 0.0413 | -8 | c.*35 others(19): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3402 | chr19 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237061276 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02055.hp2 HG03486.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0015a0001c0002t0026a0001c0011t0004others(2): Show | a0001c0001t0015g0069 a0001c0002t0026g0059 a0001c0011t0004g0064 others(2): Show |
5 | 100 | 0.0500 | -8 | c.48+ others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237064751 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01081.hp1 others(9): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0007others(5): Show | a0001c0002t0009a0001c0003t0004a0001c0003t0005others(8): Show | a0001c0002t0009g0021 a0001c0003t0004g0060 a0001c0003t0005g0018 others(9): Show |
12 | 100 | 0.1200 | -8 | c.48+ others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237122681 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01099.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0009others(11): Show | a0001c0001t0003g0100 a0001c0002t0001g0070 a0001c0002t0009g0021 others(11): Show |
14 | 100 | 0.1400 | -8 | c.48+ others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237178416 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0003a0001c0001t0007a0001c0002t0013others(23): Show | a0001c0001t0003g0023 a0001c0001t0003g0089 a0001c0001t0007g0082 others(24): Show |
27 | 100 | 0.2700 | -8 | c.49- others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237208936 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG03098.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0006a0001c0001t0007a0001c0001t0041others(2): Show | a0001c0001t0006g0025 a0001c0001t0007g0082 a0001c0001t0041g0001 others(2): Show |
5 | 100 | 0.0500 | -8 | c.49- others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237242198 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(67): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(59): Show | a0001c0001t0001g0012 a0001c0001t0003g0023 a0001c0001t0003g0089 others(67): Show |
70 | 100 | 0.7000 | -8 | c.49- others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237251028 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0041a0001c0005t0006 | a0001c0001t0041g0001 a0001c0005t0006g0029 |
2 | 100 | 0.0200 | -8 | c.49- others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237368799 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG02572.hp2 |
a0001a0002 | a0001c0002a0001c0041a0002c0039 | a0001c0002t0031a0001c0041t0006a0002c0039t0036 | a0001c0002t0031g0033 a0001c0041t0006g0027 a0002c0039t0036g0030 |
3 | 100 | 0.0300 | -8 | c.310 others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 5/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237535484 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG03098.hp1 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0001a0001c0011t0044 | a0001c0002t0001g0070 a0001c0011t0044g0054 |
2 | 100 | 0.0200 | -8 | c.290 others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 25/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237542058 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp1 HG01243.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(12): Show | a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0002t0003g0052 others(12): Show |
15 | 100 | 0.1500 | -8 | c.290 others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 25/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237577529 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG03017.hp2 HG03486.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0038a0001c0002t0002a0001c0002t0026others(2): Show | a0001c0001t0038g0026 a0001c0002t0002g0022 a0001c0002t0026g0059 others(2): Show |
5 | 100 | 0.0500 | -8 | c.359 others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 29/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237698105 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG03098.hp1 NA19043.hp1 |
a0001 | a0001c0005a0001c0008a0001c0011 | a0001c0005t0034a0001c0008t0042a0001c0011t0044 | a0001c0005t0034g0028 a0001c0008t0042g0002 a0001c0011t0044g0054 |
3 | 100 | 0.0300 | -8 | c.906 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 63/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237724184 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG02257.hp1 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0041a0001c0002t0001a0001c0004t0004others(6): Show | a0001c0001t0041g0001 a0001c0002t0001g0075 a0001c0004t0004g0009 others(6): Show |
9 | 100 | 0.0900 | -8 | c.106 others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 74/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237792349 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02922.hp1 |
a0001a0002 | a0001c0005a0002c0025 | a0001c0005t0006a0001c0005t0012a0002c0025t0040 | a0001c0005t0006g0029 a0001c0005t0012g0004 a0002c0025t0040g0003 |
3 | 100 | 0.0300 | -8 | c.137 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 94/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237792374 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG03453.hp2 HG03516.hp2 HG03669.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0016others(1): Show | a0001c0002t0013a0001c0004t0002a0001c0016t0033others(1): Show | a0001c0002t0013g0017 a0001c0004t0002g0092 a0001c0016t0033g0024 others(1): Show |
4 | 100 | 0.0400 | -8 | c.137 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 94/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237798797 | CACACATA others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03195.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0018a0001c0040 | a0001c0001t0006a0001c0018t0032a0001c0040t0039 | a0001c0001t0006g0025 a0001c0018t0032g0041 a0001c0040t0039g0095 |
3 | 100 | 0.0300 | -8 | c.140 others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 97/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33310309 | ATCTCTCT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02258.hp2 others(14): Show |
a0001a0002a0003others(9): Show | a0001c0084a0002c0080a0003c0012others(14): Show | a0001c0084t0003a0002c0080t0002a0003c0012t0003others(14): Show | a0001c0084t0003g0054 a0002c0080t0002g0060 a0003c0012t0003g0064 others(14): Show |
17 | 154 | 0.1104 | -8 | c.-73 others(17): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 657 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33325725 | TCTTCCTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(49): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0003others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(47): Show | a0001c0001t0001g0044 a0001c0001t0002g0030 a0001c0001t0005g0008 others(49): Show |
52 | 154 | 0.3377 | -8 | c.51+ others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33359593 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03195.hp1 HG03209.hp2 others(1): Show |
a0001a0006a0016others(1): Show | a0001c0058a0006c0048a0016c0020others(1): Show | a0001c0058t0002a0006c0048t0004a0016c0020t0001others(1): Show | a0001c0058t0002g0073 a0006c0048t0004g0002 a0016c0020t0001g0074 others(1): Show |
4 | 154 | 0.0260 | -8 | c.51+ others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33437117 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02723.hp2 others(2): Show |
a0003a0009a0010others(2): Show | a0003c0043a0009c0063a0010c0055others(2): Show | a0003c0043t0001a0009c0063t0001a0010c0055t0005others(2): Show | a0003c0043t0001g0106 a0009c0063t0001g0126 a0010c0055t0005g0061 others(2): Show |
5 | 154 | 0.0325 | -8 | c.52- others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33445664 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG03688.hp1 |
a0001a0048 | a0001c0046a0048c0109 | a0001c0046t0011a0048c0109t0005 | a0001c0046t0011g0065 a0048c0109t0005g0040 |
2 | 154 | 0.0130 | -8 | c.52- others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33450087 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01496.hp1 HG02258.hp1 others(9): Show |
a0002a0005a0009others(8): Show | a0002c0089a0002c0092a0005c0022others(9): Show | a0002c0089t0008a0002c0092t0002a0005c0022t0002others(9): Show | a0002c0089t0008g0130 a0002c0092t0002g0144 a0005c0022t0002g0147 others(9): Show |
12 | 154 | 0.0779 | -8 | c.52- others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33464485 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01243.hp2 others(10): Show |
a0002a0003a0005others(4): Show | a0002c0088a0002c0091a0002c0119others(9): Show | a0002c0088t0002a0002c0091t0003a0002c0119t0001others(9): Show | a0002c0088t0002g0072 a0002c0091t0003g0154 a0002c0119t0001g0090 others(10): Show |
13 | 154 | 0.0844 | -8 | c.52- others(23): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33464493 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02258.hp1 HG02559.hp1 others(5): Show |
a0002a0005a0009others(5): Show | a0002c0089a0005c0022a0009c0086others(5): Show | a0002c0089t0008a0005c0022t0002a0009c0086t0002others(5): Show | a0002c0089t0008g0130 a0005c0022t0002g0147 a0009c0086t0002g0110 others(5): Show |
8 | 154 | 0.0520 | -8 | c.52- others(23): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33602733 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02155.hp2 HG02486.hp2 HG02647.hp1 others(3): Show |
a0002a0003a0033others(1): Show | a0002c0080a0002c0090a0003c0043others(3): Show | a0002c0080t0002a0002c0090t0001a0003c0043t0001others(3): Show | a0002c0080t0002g0060 a0002c0090t0001g0076 a0003c0043t0001g0106 others(3): Show |
6 | 154 | 0.0390 | -8 | c.192 others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 17/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33669880 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG03130.hp1 |
a0002 | a0002c0089a0002c0092 | a0002c0089t0008a0002c0092t0002 | a0002c0089t0008g0130 a0002c0092t0002g0144 |
2 | 154 | 0.0130 | -8 | c.572 others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 37/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33671805 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01071.hp1 others(14): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0002others(14): Show | a0001c0001t0010g0094 a0001c0002t0001g0018 a0001c0002t0002g0102 others(14): Show |
17 | 154 | 0.1104 | -8 | c.586 others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 38/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33691157 | CCATATTA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(22): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0002a0001c0001t0010a0001c0002t0001others(20): Show | a0001c0001t0002g0101 a0001c0001t0010g0094 a0001c0002t0001g0018 others(22): Show |
25 | 154 | 0.1623 | -8 | c.586 others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 38/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33705101 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01884.hp2 others(9): Show |
a0001a0006a0009others(8): Show | a0001c0046a0001c0098a0006c0062others(9): Show | a0001c0046t0011a0001c0098t0001a0006c0062t0001others(9): Show | a0001c0046t0011g0065 a0001c0098t0001g0151 a0006c0062t0001g0107 others(9): Show |
12 | 154 | 0.0779 | -8 | c.648 others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 42/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33725154 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01496.hp1 others(6): Show |
a0001a0002a0005others(5): Show | a0001c0015a0002c0089a0002c0092others(6): Show | a0001c0015t0001a0002c0089t0008a0002c0092t0002others(6): Show | a0001c0015t0001g0077 a0002c0089t0008g0130 a0002c0092t0002g0144 others(6): Show |
9 | 154 | 0.0584 | -8 | c.691 others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 45/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33725196 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG03471.hp2 HG03486.hp1 others(2): Show |
a0001a0005a0029 | a0001c0083a0001c0084a0005c0022others(2): Show | a0001c0083t0001a0001c0084t0003a0005c0022t0002others(2): Show | a0001c0083t0001g0143 a0001c0084t0003g0054 a0005c0022t0002g0147 others(2): Show |
5 | 154 | 0.0325 | -8 | c.691 others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 45/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33790294 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01243.hp2 others(13): Show |
a0001a0002a0003others(5): Show | a0001c0014a0001c0046a0001c0120others(11): Show | a0001c0014t0002a0001c0046t0011a0001c0120t0002others(11): Show | a0001c0014t0002g0015 a0001c0014t0002g0049 a0001c0046t0011g0065 others(13): Show |
16 | 154 | 0.1039 | -8 | c.983 others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33794121 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02976.hp1 HG03195.hp1 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0058a0002c0081a0002c0087others(3): Show | a0001c0058t0002a0002c0081t0002a0002c0087t0001others(3): Show | a0001c0058t0002g0073 a0002c0081t0002g0023 a0002c0087t0001g0039 others(3): Show |
6 | 154 | 0.0390 | -8 | c.983 others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33819675 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01496.hp1 others(6): Show |
a0001a0002a0010others(4): Show | a0001c0010a0001c0082a0002c0089others(5): Show | a0001c0010t0001a0001c0082t0002a0002c0089t0008others(5): Show | a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0082t0002g0025 others(6): Show |
9 | 154 | 0.0584 | -8 | c.107 others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 76/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33828914 | TAGTTAGA others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG02486.hp2 |
a0001a0033 | a0001c0005a0033c0100 | a0001c0005t0001a0033c0100t0001 | a0001c0005t0001g0005 a0033c0100t0001g0021 |
2 | 154 | 0.0130 | -8 | c.113 others(29): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 85/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33834285 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG03471.hp1 HG03579.hp1 |
a0001a0028a0040 | a0001c0098a0028c0074a0040c0107 | a0001c0098t0001a0028c0074t0002a0040c0107t0003 | a0001c0098t0001g0151 a0028c0074t0002g0148 a0040c0107t0003g0003 |
3 | 154 | 0.0195 | -8 | c.114 others(27): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 86/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33868359 | TAAACAAA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02258.hp1 HG03195.hp1 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0058a0002c0089a0005c0022others(3): Show | a0001c0058t0002a0002c0089t0008a0005c0022t0002others(3): Show | a0001c0058t0002g0073 a0002c0089t0008g0130 a0005c0022t0002g0147 others(3): Show |
6 | 154 | 0.0390 | -8 | c.*31 others(19): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 2258 | chr15 | TogoVar | |||||||
S100A16_chr1_153601886_153618137 | 153602921 | CGATAGAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01243.hp1 HG01261.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0023 others(4): Show |
13 | 400 | 0.0325 | -8 | c.*46 others(19): Show |
S100A16 | ENSG00000188643.11 | transcript | ENST00000368706.9 | protein_coding | 3964 | chr1 | TogoVar | |||||||
S100G_chrX_16645158_16659670 | 16647255 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 348 | 0.0029 | -8 | c.-29 others(19): Show |
S100G | ENSG00000169906.5 | transcript | ENST00000380200.3 | protein_coding | 2902 | chrX | TogoVar | |||||||
S100PBP_chr1_32812653_32863875 | 32842234 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0100 a0001c0001t0003g0278 a0001c0001t0003g0281 others(3): Show |
6 | 340 | 0.0177 | -8 | c.102 others(29): Show |
S100PBP | ENSG00000116497.18 | transcript | ENST00000373475.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
S100PBP_chr1_32812653_32863875 | 32842236 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG02055.hp1 HG02109.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0008a0001c0001t0029others(1): Show | a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0263 others(14): Show |
19 | 340 | 0.0559 | -8 | c.102 others(29): Show |
S100PBP | ENSG00000116497.18 | transcript | ENST00000373475.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
S100Z_chr5_76845014_76926650 | 76850333 | GGGGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02897.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0008 | a0001c0001t0016g0145 a0002c0002t0008g0146 a0002c0002t0008g0147 others(2): Show |
5 | 348 | 0.0144 | -8 | c.-17 others(25): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
S100Z_chr5_76845014_76926650 | 76862124 | AGTGTGCG others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01123.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 others(15): Show |
18 | 348 | 0.0517 | -8 | c.-17 others(27): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |