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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 NA18987.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0045 |
2 | 77 | 0.0260 | 21 | c.*31 others(32): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8856492 | C | CCTTACTG others(14): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 468 | 0.0021 | 21 | c.282 others(38): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8857261 | C | CTGTTTTT others(14): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0045 | 1 | 442 | 0.0023 | 21 | c.281 others(38): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0269 | 1 | 100 | 0.0100 | 21 | c.-7- others(36): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARM1_chr19_10866553_10928075 | 10871589 | A | AGCGGCGG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02080.hp1 HG04184.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0214 a0001c0001t0001g0307 a0001c0001t0002g0122 |
3 | 246 | 0.0122 | 21 | c.-84 others(28): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 63 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10871598 | G | GGCGGCGG others(14): Show |
5_prime_UTR_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 352 | 0.0028 | 21 | c.-85 others(28): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 84 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10871604 | G | GGCGGCGG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02630.hp1 HG02735.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0249 |
3 | 340 | 0.0088 | 21 | c.-79 others(28): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 78 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25529755 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03486.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0012a0001c0004t0018 | a0001c0002t0012g0174 a0001c0004t0018g0122 |
2 | 100 | 0.0200 | 21 | c.206 others(38): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140349 | C | CACACACA others(14): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 233 | 0.0043 | 21 | c.-20 others(30): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 187 | chr17 | TogoVar | |||||||
CASC3_chr17_40135537_40177171 | 40172967 | A | ATTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 | 1 | 257 | 0.0039 | 21 | c.*25 others(32): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 797 | chr17 | TogoVar | |||||||
CASP3_chr4_184622696_184654447 | 184631542 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 39 | 0.0256 | 21 | c.483 others(36): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
CASP3_chr4_184622696_184654447 | 184650971 | G | GGTTTAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0160 a0001c0001t0003g0128 |
2 | 364 | 0.0055 | 21 | c.-17 others(32): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 1525 | chr4 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113687846 | T | TTTCCTTT others(14): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 220 | 0.0045 | 21 | c.-1+ others(36): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687846 | T | TTTCTTTC others(14): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0345 | 1 | 220 | 0.0045 | 21 | c.-1+ others(36): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115739124 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 150 | 0.0067 | 21 | c.421 others(36): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
CASS4_chr20_56407260_56465382 | 56443469 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0006 | 1 | 210 | 0.0048 | 21 | c.460 others(38): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CASTOR1_chr22_30280117_30294505 | 30292203 | T | TCAGGCAG others(14): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 422 | 0.0047 | 21 | c.-27 others(32): Show |
CASTOR1 | ENSG00000239282.8 | transcript | ENST00000407689.8 | protein_coding | 2699 | chr22 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74963074 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0001g0077 others(44): Show |
47 | 73 | 0.6438 | 21 | c.-19 others(32): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1630 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 75026188 | G | GTTTTTTT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG03491.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0081a0001c0001t0088 | a0001c0001t0081g0071 a0001c0001t0088g0009 |
2 | 210 | 0.0095 | 21 | c.*14 others(32): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 9/9 | 1490 | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 75026189 | G | GTTTTTTT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG03540.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0078a0002c0004t0032 | a0001c0001t0078g0080 a0002c0004t0032g0182 a0002c0004t0032g0183 |
3 | 144 | 0.0208 | 21 | c.*15 others(32): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 9/9 | 1508 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96680354 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 236 | 0.0042 | 21 | c.138 others(38): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10715637 | G | GCACCCCA others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01978.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 others(43): Show |
46 | 228 | 0.2018 | 21 | c.-76 others(40): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10715637 | G | GCGCCCCA others(14): Show |
intron_variant | MODIFIER | HG01891.hp1 HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0060a0001c0002t0012a0001c0012t0001 | a0001c0001t0060g0175 a0001c0002t0012g0170 a0001c0012t0001g0172 |
3 | 185 | 0.0162 | 21 | c.-76 others(40): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10789708 | T | TCTCTCTT others(14): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0010 | a0002c0010t0021 | a0002c0010t0021g0231 | 1 | 234 | 0.0043 | 21 | c.-23 others(40): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43638286 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18962.hp2 NA18995.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0041 a0002c0002t0002g0168 |
3 | 208 | 0.0144 | 21 | c.842 others(36): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
CATSPER3_chr5_134962907_135016696 | 134997562 | G | GTCTCCAA others(14): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 378 | 0.0026 | 21 | c.492 others(38): Show |
CATSPER3 | ENSG00000152705.8 | transcript | ENST00000282611.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26207777 | A | AAAAAGAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01167.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0014others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0004others(3): Show | a0001c0001t0001g0014 a0001c0001t0002g0001 a0001c0001t0002g0016 others(9): Show |
12 | 182 | 0.0659 | 21 | c.*52 others(32): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 4814 | chr1 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91587477 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 11 | 0.0909 | 21 | c.305 others(38): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 25/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91661548 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA19076.hp1 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0248 |
2 | 268 | 0.0075 | 21 | c.128 others(40): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91672022 | A | AAACAACA others(14): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02280.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 |
3 | 136 | 0.0221 | 21 | c.112 others(38): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 13/26 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5741793 | G | GGGGGGGG others(14): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0017 | 1 | 332 | 0.0030 | 21 | c.573 others(38): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5741794 | G | GGGGTGGG others(14): Show |
intron_variant | MODIFIER | HG02965.hp2 NA19240.hp1 |
a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0018 a0006c0007t0002g0020 |
2 | 326 | 0.0061 | 21 | c.573 others(38): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02922.hp2 HG03579.hp1 |
a0001a0013 | a0001c0001a0013c0013 | a0001c0001t0001a0013c0013t0001 | a0001c0001t0001g0138 a0001c0001t0001g0146 a0013c0013t0001g0009 |
3 | 48 | 0.0625 | 21 | c.142 others(40): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03225.hp2 HG06807.hp2 |
a0001a0010a0017 | a0001c0001a0010c0008a0017c0018 | a0001c0001t0001a0010c0008t0001a0017c0018t0001 | a0001c0001t0001g0116 a0010c0008t0001g0008 a0017c0018t0001g0309 |
3 | 48 | 0.0625 | 21 | c.142 others(40): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03195.hp2 |
a0006a0022 | a0006c0007a0022c0047 | a0006c0007t0001a0022c0047t0001 | a0006c0007t0001g0027 a0022c0047t0001g0004 |
2 | 47 | 0.0426 | 21 | c.142 others(40): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244621007 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00735.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0110 others(36): Show |
39 | 198 | 0.1970 | 21 | c.264 others(40): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATATATTT others(14): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 6 | 0.1667 | 21 | c.264 others(40): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATATTTTT others(14): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03491.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0001 | a0001c0002t0003g0148 a0001c0003t0001g0199 |
2 | 7 | 0.2857 | 21 | c.264 others(40): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERZ_chr11_64295358_64309770 | 64306799 | C | CATCTGGA others(14): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0045 |
2 | 390 | 0.0051 | 21 | c.*21 others(32): Show |
CATSPERZ | ENSG00000219435.6 | transcript | ENST00000328404.8 | protein_coding | 2030 | chr11 | TogoVar | |||||||
CATSPERZ_chr11_64295358_64309770 | 64307306 | C | CTGCCCTT others(14): Show |
downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 390 | 0.0026 | 21 | c.*26 others(32): Show |
CATSPERZ | ENSG00000219435.6 | transcript | ENST00000328404.8 | protein_coding | 2537 | chr11 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 a0001c0001t0003g0116 |
2 | 120 | 0.0167 | 21 | c.195 others(38): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02109.hp2 NA19059.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140 a0001c0001t0002g0175 |
2 | 120 | 0.0167 | 21 | c.195 others(38): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 119 | 0.0084 | 21 | c.195 others(38): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 119 | 0.0084 | 21 | c.195 others(38): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116546697 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02148.hp1 NA18941.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0017others(1): Show | a0001c0001t0003g0023 a0001c0001t0003g0036 a0001c0001t0003g0128 others(9): Show |
13 | 160 | 0.0813 | 21 | c.196 others(40): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116561738 | T | TAGATAGA others(14): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0048 | 1 | 294 | 0.0034 | 21 | c.*24 others(32): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 560 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116562865 | A | AAAAGAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG03098.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 others(2): Show |
5 | 80 | 0.0625 | 21 | c.*35 others(32): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1687 | chr7 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 a0001c0001t0001g0244 |
2 | 69 | 0.0290 | 21 | c.510 others(38): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88888488 | C | CGGGTGGG others(14): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0085 | 1 | 282 | 0.0035 | 21 | c.712 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88938342 | A | AGGGCTGG others(14): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0005 | a0001c0005t0028 | a0001c0005t0028g0196 | 1 | 282 | 0.0035 | 21 | c.152 others(40): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar |