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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RYR2_chr1_237037184_237838988 | 237540911 | GTATATA | G | intron_variant | MODIFIER | HG03669.hp2 NA18522.hp2 NA19043.hp1 |
a0001a0006 | a0001c0008a0001c0037a0006c0020 | a0001c0008t0042a0001c0037t0010a0006c0020t0001 | a0001c0008t0042g0002 a0001c0037t0010g0037 a0006c0020t0001g0015 |
3 | 100 | 0.0300 | -6 | c.290 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 25/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237556279 | ATATTAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(35): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(55): Show | a0001c0001t0003g0023 a0001c0001t0003g0089 a0001c0001t0003g0100 others(63): Show |
66 | 100 | 0.6600 | -6 | c.321 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237565151 | TTCTTTC | T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01175.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0041others(3): Show | a0001c0001t0006a0001c0001t0038a0001c0003t0002others(5): Show | a0001c0001t0006g0025 a0001c0001t0038g0026 a0001c0003t0002g0065 others(5): Show |
8 | 100 | 0.0800 | -6 | c.321 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237565175 | CTTTCTT | C | intron_variant | MODIFIER | HG01243.hp2 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0002a0001c0048 | a0001c0002t0001a0001c0002t0026a0001c0048t0001 | a0001c0002t0001g0070 a0001c0002t0026g0059 a0001c0048t0001g0007 |
3 | 100 | 0.0300 | -6 | c.321 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237573231 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00738.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(30): Show | a0001c0001t0001g0012 a0001c0001t0003g0089 a0001c0001t0003g0100 others(32): Show |
35 | 100 | 0.3500 | -6 | c.359 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 29/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237577531 | TGTGTGC | T | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01243.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0007a0001c0002t0001a0001c0002t0003others(7): Show | a0001c0001t0007g0011 a0001c0002t0001g0070 a0001c0002t0003g0052 others(8): Show |
11 | 100 | 0.1100 | -6 | c.359 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 29/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237670309 | TGGAGAG | T | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01981.hp2 others(2): Show |
a0001 | a0001c0004a0001c0015a0001c0017others(2): Show | a0001c0004t0004a0001c0015t0006a0001c0017t0037others(2): Show | a0001c0004t0004g0009 a0001c0015t0006g0034 a0001c0017t0037g0032 others(2): Show |
5 | 100 | 0.0500 | -6 | c.859 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 58/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237698105 | AGTGTGT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00741.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0015others(30): Show | a0001c0001t0003g0023 a0001c0001t0007g0082 a0001c0001t0015g0069 others(31): Show |
34 | 100 | 0.3400 | -6 | c.906 others(23): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 63/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237724184 | CATATAT | C | intron_variant | MODIFIER | HG01261.hp2 HG01981.hp2 NA18747.hp1 |
a0001 | a0001c0007a0001c0017a0001c0032 | a0001c0007t0024a0001c0017t0037a0001c0032t0005 | a0001c0007t0024g0048 a0001c0017t0037g0032 a0001c0032t0005g0098 |
3 | 100 | 0.0300 | -6 | c.106 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 74/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237764402 | ATTTTTT | A | intron_variant | MODIFIER | HG01169.hp2 HG01981.hp2 HG02055.hp1 others(11): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0041a0001c0002t0003others(11): Show | a0001c0001t0001g0099 a0001c0001t0041g0001 a0001c0002t0003g0052 others(11): Show |
14 | 100 | 0.1400 | -6 | c.114 others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 84/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237795972 | GTATATA | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(51): Show | a0001c0001t0001g0012 a0001c0001t0003g0023 a0001c0001t0003g0089 others(55): Show |
58 | 100 | 0.5800 | -6 | c.139 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 96/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237801367 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(25): Show | a0001c0001t0001g0012 a0001c0001t0003g0023 a0001c0001t0015g0069 others(26): Show |
29 | 100 | 0.2900 | -6 | c.140 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 97/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237810002 | TAAATAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp2 others(16): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(15): Show | a0001c0001t0001g0012 a0001c0002t0001g0075 a0001c0002t0003g0008 others(16): Show |
19 | 100 | 0.1900 | -6 | c.144 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 100/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33310309 | ATCTCTC | A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02280.hp1 HG02622.hp1 others(16): Show |
a0001a0002a0005others(11): Show | a0001c0010a0001c0014a0001c0058others(16): Show | a0001c0010t0001a0001c0014t0002a0001c0058t0002others(16): Show | a0001c0010t0001g0051 a0001c0014t0002g0049 a0001c0058t0002g0073 others(16): Show |
19 | 154 | 0.1234 | -6 | c.-73 others(15): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 657 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33336440 | AAGAGAG | A | intron_variant | MODIFIER | HG02040.hp1 HG02965.hp2 HG03195.hp1 others(2): Show |
a0001a0004a0016 | a0001c0001a0001c0002a0001c0058others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0058t0002others(2): Show | a0001c0001t0002g0101 a0001c0002t0002g0102 a0001c0058t0002g0073 others(2): Show |
5 | 154 | 0.0325 | -6 | c.51+ others(23): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33374364 | ATGTGTG | A | intron_variant | MODIFIER | HG01496.hp1 HG02486.hp1 HG02717.hp1 others(12): Show |
a0001a0002a0007others(9): Show | a0001c0001a0001c0014a0001c0047others(12): Show | a0001c0001t0002a0001c0014t0002a0001c0047t0001others(12): Show | a0001c0001t0002g0101 a0001c0014t0002g0049 a0001c0047t0001g0135 others(12): Show |
15 | 154 | 0.0974 | -6 | c.51+ others(23): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33382319 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01261.hp2 HG01884.hp2 others(7): Show |
a0001a0003a0005others(2): Show | a0001c0015a0001c0096a0003c0035others(6): Show | a0001c0015t0001a0001c0096t0001a0003c0035t0004others(6): Show | a0001c0015t0001g0077 a0001c0015t0001g0118 a0001c0096t0001g0120 others(7): Show |
10 | 154 | 0.0649 | -6 | c.51+ others(23): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33428485 | TAATAAA | T | intron_variant | MODIFIER | HG02451.hp2 NA18522.hp1 |
a0003 | a0003c0012a0003c0065 | a0003c0012t0003a0003c0065t0002 | a0003c0012t0003g0113 a0003c0065t0002g0150 |
2 | 154 | 0.0130 | -6 | 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 | 33437117 | AGTGTGT | A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001a0002a0003others(5): Show | a0001c0010a0001c0083a0001c0084others(11): Show | a0001c0010t0001a0001c0083t0001a0001c0084t0003others(11): Show | a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0083t0001g0143 others(12): Show |
15 | 154 | 0.0974 | -6 | 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 | 33437678 | TTTTCCA | T | intron_variant | MODIFIER | HG03098.hp2 HG03225.hp1 HG03516.hp1 others(1): Show |
a0001a0002a0007 | a0001c0014a0002c0080a0007c0072 | a0001c0014t0002a0002c0080t0002a0007c0072t0004 | a0001c0014t0002g0015 a0001c0014t0002g0049 a0002c0080t0002g0060 others(1): Show |
4 | 154 | 0.0260 | -6 | c.52- others(23): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33445664 | AACACAC | A | intron_variant | MODIFIER | HG02040.hp1 HG02155.hp2 HG02559.hp1 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0013a0001c0098a0002c0090others(6): Show | a0001c0013t0001a0001c0013t0005a0001c0098t0001others(8): Show | a0001c0013t0001g0026 a0001c0013t0005g0084 a0001c0098t0001g0151 others(8): Show |
11 | 154 | 0.0714 | -6 | 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 | 33464487 | TATACAC | T | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02615.hp1 others(8): Show |
a0001a0003a0007others(5): Show | a0001c0037a0001c0047a0001c0058others(8): Show | a0001c0037t0003a0001c0047t0001a0001c0058t0002others(8): Show | a0001c0037t0003g0089 a0001c0047t0001g0135 a0001c0058t0002g0073 others(8): Show |
11 | 154 | 0.0714 | -6 | c.52- others(21): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33554291 | CTTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG01496.hp2 others(17): Show |
a0001a0002a0003others(9): Show | a0001c0003a0001c0013a0001c0079others(15): Show | a0001c0003t0001a0001c0013t0001a0001c0013t0005others(17): Show | a0001c0003t0001g0032 a0001c0013t0001g0026 a0001c0013t0005g0084 others(17): Show |
20 | 154 | 0.1299 | -6 | c.972 others(23): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 10/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33570836 | ATATAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00642.hp1 others(81): Show |
a0001a0002a0003others(30): Show | a0001c0003a0001c0004a0001c0010others(66): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(72): Show | a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0002g0036 others(81): Show |
84 | 154 | 0.5455 | -6 | c.126 others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 12/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33595469 | TTTAACA | T | intron_variant | MODIFIER | NA19030.hp2 NA20129.hp2 |
a0002a0009 | a0002c0081a0009c0063 | a0002c0081t0002a0009c0063t0001 | a0002c0081t0002g0023 a0009c0063t0001g0126 |
2 | 154 | 0.0130 | -6 | c.178 others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 16/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33622602 | ACAAAAG | A | intron_variant | MODIFIER | HG02559.hp1 HG02922.hp2 |
a0010a0043 | a0010c0054a0043c0052 | a0010c0054t0001a0043c0052t0001 | a0010c0054t0001g0112 a0043c0052t0001g0137 |
2 | 154 | 0.0130 | -6 | c.235 others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 19/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33699232 | GTCTGTC | G | intron_variant | MODIFIER | HG02622.hp2 HG02896.hp1 HG03225.hp2 others(1): Show |
a0003a0005a0009others(1): Show | a0003c0078a0005c0029a0009c0122others(1): Show | a0003c0078t0003a0005c0029t0001a0009c0122t0002others(1): Show | a0003c0078t0003g0024 a0005c0029t0001g0075 a0009c0122t0002g0055 others(1): Show |
4 | 154 | 0.0260 | -6 | c.625 others(23): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 40/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33705101 | TTCTCTC | T | intron_variant | MODIFIER | HG01261.hp1 HG03017.hp2 |
a0001a0013 | a0001c0004a0013c0057 | a0001c0004t0001a0013c0057t0003 | a0001c0004t0001g0127 a0013c0057t0003g0082 |
2 | 154 | 0.0130 | -6 | c.648 others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 42/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33725154 | TACACAC | T | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp1 HG03209.hp1 others(1): Show |
a0002a0009a0014others(1): Show | a0002c0091a0009c0086a0014c0059others(1): Show | a0002c0091t0003a0009c0086t0002a0014c0059t0001others(1): Show | a0002c0091t0003g0154 a0009c0086t0002g0110 a0014c0059t0001g0063 others(1): Show |
4 | 154 | 0.0260 | -6 | c.691 others(25): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 45/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
S100A10_chr1_151977915_151998859 | 151978614 | AAAAAAG | A | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02027.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0019 others(1): Show |
6 | 390 | 0.0154 | -6 | c.*45 others(17): Show |
S100A10 | ENSG00000197747.9 | transcript | ENST00000368811.8 | protein_coding | 4300 | chr1 | TogoVar | |||||||
S100A10_chr1_151977915_151998859 | 151983924 | TCCTATA | T | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG01433.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0001g0100 |
9 | 390 | 0.0231 | -6 | c.133 others(21): Show |
S100A10 | ENSG00000197747.9 | transcript | ENST00000368811.8 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
S100A14_chr1_153609255_153621325 | 153611917 | TCACACA | T | downstream_gene_variant | MODIFIER | HG02809.hp1 HG02895.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0003 |
5 | 394 | 0.0127 | -6 | c.*29 others(17): Show |
S100A14 | ENSG00000189334.9 | transcript | ENST00000344616.4 | protein_coding | 2337 | chr1 | TogoVar | |||||||
S100A16_chr1_153601886_153618137 | 153607094 | TCTGCTG | T | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 4 | 400 | 0.0100 | -6 | c.*43 others(15): Show |
S100A16 | ENSG00000188643.11 | transcript | ENST00000368706.9 | protein_coding | 3/3 | 434 | chr1 | TogoVar | ||||||
S100A16_chr1_153601886_153618137 | 153611917 | TCACACA | T | intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0048 a0001c0001t0005g0014 |
5 | 400 | 0.0125 | -6 | c.-27 others(23): Show |
S100A16 | ENSG00000188643.11 | transcript | ENST00000368706.9 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
S100A4_chr1_153538621_153550806 | 153539424 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01168.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0004g0017 a0001c0002t0001g0002 |
11 | 350 | 0.0314 | -6 | c.*43 others(17): Show |
S100A4 | ENSG00000196154.12 | transcript | ENST00000368716.9 | protein_coding | 4196 | chr1 | TogoVar | |||||||
S100A4_chr1_153538621_153550806 | 153539475 | ATTTATT | A | downstream_gene_variant | MODIFIER | HG02630.hp1 HG02886.hp2 NA18522.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0003 |
6 | 350 | 0.0171 | -6 | c.*42 others(17): Show |
S100A4 | ENSG00000196154.12 | transcript | ENST00000368716.9 | protein_coding | 4145 | chr1 | TogoVar | |||||||
S100A5_chr1_153532147_153545934 | 153539424 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01168.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0001a0003c0004t0002 | a0001c0001t0001g0118 a0001c0003t0001g0010 a0001c0003t0001g0036 others(1): Show |
12 | 378 | 0.0318 | -6 | c.138 others(21): Show |
S100A5 | ENSG00000196420.8 | transcript | ENST00000368717.3 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
S100A5_chr1_153532147_153545934 | 153539475 | ATTTATT | A | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 NA18522.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0026 a0001c0001t0001g0109 a0003c0004t0002g0116 |
6 | 378 | 0.0159 | -6 | c.138 others(21): Show |
S100A5 | ENSG00000196420.8 | transcript | ENST00000368717.3 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
S100A6_chr1_153529599_153540991 | 153539424 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG01168.hp1 HG02965.hp1 HG03017.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 |
11 | 380 | 0.0290 | -6 | c.-35 others(17): Show |
S100A6 | ENSG00000197956.10 | transcript | ENST00000368719.9 | protein_coding | 3434 | chr1 | TogoVar | |||||||
S100A6_chr1_153529599_153540991 | 153539475 | ATTTATT | A | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02886.hp2 NA18522.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0005 |
6 | 380 | 0.0158 | -6 | c.-35 others(17): Show |
S100A6 | ENSG00000197956.10 | transcript | ENST00000368719.9 | protein_coding | 3485 | chr1 | TogoVar | |||||||
S100PBP_chr1_32812653_32863875 | 32842234 | TATACAC | T | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02622.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0011a0002c0002t0010 | a0001c0001t0003g0020 a0001c0001t0003g0101 a0001c0001t0003g0287 others(8): Show |
12 | 340 | 0.0353 | -6 | c.102 others(27): Show |
S100PBP | ENSG00000116497.18 | transcript | ENST00000373475.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
S100PBP_chr1_32812653_32863875 | 32842236 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01109.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020a0001c0001t0027 | a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 others(16): Show |
19 | 340 | 0.0559 | -6 | c.102 others(27): Show |
S100PBP | ENSG00000116497.18 | transcript | ENST00000373475.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
S100P_chr4_6688878_6702170 | 6692069 | GTGTGTA | G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0034 a0001c0003t0001g0006 |
10 | 482 | 0.0208 | -6 | c.-18 others(17): Show |
S100P | ENSG00000163993.7 | transcript | ENST00000296370.4 | protein_coding | 1808 | chr4 | TogoVar | |||||||
S100P_chr4_6688878_6702170 | 6701096 | TTTATTA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(11): Show |
97 | 482 | 0.2012 | -6 | c.*40 others(17): Show |
S100P | ENSG00000163993.7 | transcript | ENST00000296370.4 | protein_coding | 3927 | chr4 | TogoVar | |||||||
S100Z_chr5_76845014_76926650 | 76862124 | AGTGTGC | A | intron_variant | MODIFIER | HG02615.hp1 HG03579.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0011a0002c0002t0002 | a0001c0001t0003g0084 a0001c0001t0011g0059 a0002c0002t0002g0083 |
3 | 348 | 0.0086 | -6 | 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 | 76864386 | ATTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00741.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 others(16): Show |
19 | 348 | 0.0546 | -6 | 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 | 76864481 | AACCTCT | A | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0270 |
3 | 348 | 0.0086 | -6 | c.-17 others(25): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
S100Z_chr5_76845014_76926650 | 76868505 | GATATAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(41): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0007a0002c0002t0003others(4): Show | a0001c0001t0003g0014 a0001c0001t0003g0036 a0001c0001t0003g0037 others(41): Show |
44 | 348 | 0.1264 | -6 | 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 | 76906976 | GTATATA | G | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01071.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002a0002c0002t0004others(1): Show | a0001c0001t0004g0252 a0002c0002t0002g0001 a0002c0002t0002g0032 others(14): Show |
19 | 348 | 0.0546 | -6 | c.*3- others(23): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
S1PR2_chr19_10216433_10236331 | 10225390 | ATTTTTT | A | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01169.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0013others(3): Show | a0001c0001t0004g0125 a0001c0001t0011g0046 a0001c0001t0011g0183 others(6): Show |
11 | 400 | 0.0275 | -6 | c.-42 others(21): Show |
S1PR2 | ENSG00000267534.4 | transcript | ENST00000646641.1 | protein_coding | 1/1 | chr19 | TogoVar |