regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19074.hp2 |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0053a0004c0003t0003g0075 | 2 | 336 | 0.0060 | 16 | c.142 others(35): 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(9): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 336 | 0.0030 | 16 | c.142 others(35): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244528785 | C | CCACGCAC others(9): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 | 1 | 206 | 0.0049 | 16 | c.536 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244553602 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0010 | a0010c0014 | a0010c0014t0004 | a0010c0014t0004g0161 | 1 | 206 | 0.0049 | 16 | c.102 others(33): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244553614 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0133 | 1 | 206 | 0.0049 | 16 | c.102 others(33): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244557532 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18966.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0060a0001c0001t0003g0154a0001c0001t0004g0168 | 3 | 206 | 0.0146 | 16 | c.103 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244557550 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 206 | 0.0049 | 16 | c.103 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244578823 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03540.hp2 |
a0004a0007 | a0004c0009a0007c0011 | a0004c0009t0002a0007c0011t0001 | a0004c0009t0002g0079a0007c0011t0001g0013 | 2 | 206 | 0.0097 | 16 | c.195 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244621214 | T | TAGATATA others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0022 | 1 | 206 | 0.0049 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244621315 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156a0001c0001t0003g0178 | 2 | 206 | 0.0097 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244623058 | T | TTTTATTT others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02572.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0004g0171a0001c0002t0002g0007a0001c0002t0002g0011others(8): Show | 11 | 206 | 0.0534 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244625428 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01515.hp2 HG02896.hp2 |
a0001a0005a0006 | a0001c0001a0005c0008a0006c0010 | a0001c0001t0001a0005c0008t0003a0006c0010t0001 | a0001c0001t0001g0131a0005c0008t0003g0192a0006c0010t0001g0138 | 3 | 206 | 0.0146 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244625430 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01516.hp2 HG02074.hp2 others(2): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0005c0008 | a0001c0001t0001a0003c0005t0001a0005c0008t0003 | a0001c0001t0001g0058a0001c0001t0001g0109a0001c0001t0001g0127others(2): Show | 5 | 206 | 0.0243 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0083 | 1 | 206 | 0.0049 | 16 | c.264 others(35): 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(9): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0043a0001c0001t0001g0064a0001c0001t0001g0103others(1): Show | 4 | 206 | 0.0194 | 16 | c.264 others(35): 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(9): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02451.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0063a0001c0001t0001g0114 | 3 | 206 | 0.0146 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01934.hp2 HG02083.hp2 others(13): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(4): Show | a0001c0001t0001g0021a0001c0001t0001g0040a0001c0001t0001g0056others(13): Show | 16 | 206 | 0.0777 | 16 | c.264 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERG_chr19_38330830_38375943 | 38342216 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01123.hp1 others(37): Show |
a0003a0012 | a0003c0004a0012c0025 | a0003c0004t0001a0012c0025t0001 | a0003c0004t0001g0002a0003c0004t0001g0100a0003c0004t0001g0104others(36): Show | 40 | 376 | 0.1064 | 16 | c.325 others(33): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116523234 | G | GAAGGAAG others(9): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0306 | 1 | 342 | 0.0029 | 16 | c.-18 others(27): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1801 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116530208 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00642.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0085a0001c0001t0001g0089a0001c0001t0001g0090others(28): Show | 34 | 342 | 0.0994 | 16 | c.195 others(33): 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(9): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 342 | 0.0029 | 16 | c.195 others(33): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATTT others(9): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0326a0001c0001t0004g0329 | 2 | 342 | 0.0059 | 16 | c.195 others(33): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATTTTT others(9): Show |
intron_variant | MODIFIER | HG03491.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0242a0001c0001t0003g0152 | 2 | 342 | 0.0059 | 16 | c.195 others(33): 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(9): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0019 | 1 | 342 | 0.0029 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp2 HG01169.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0098a0001c0001t0004g0070a0001c0001t0004g0103others(8): Show | 12 | 342 | 0.0351 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101a0001c0001t0004g0315 | 2 | 342 | 0.0059 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03209.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0074a0001c0001t0004g0075a0001c0001t0005g0300 | 3 | 342 | 0.0088 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0007a0001c0001t0004g0064a0001c0001t0004g0086others(4): Show | 8 | 342 | 0.0234 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01256.hp2 HG01258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0083a0001c0001t0004g0084a0001c0001t0004g0088others(4): Show | 8 | 342 | 0.0234 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAAAT others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02818.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0102a0001c0001t0004g0316a0001c0001t0004g0320 | 3 | 342 | 0.0088 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116546702 | A | AAAAAATA others(9): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03017.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0317a0001c0001t0004g0318a0001c0001t0004g0319 | 3 | 342 | 0.0088 | 16 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555448 | A | AAAGGAAG others(9): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01256.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0007a0001c0001t0004g0064a0001c0001t0004g0087others(10): Show | 16 | 342 | 0.0468 | 16 | c.196 others(33): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555484 | A | AAAAGAAA others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 342 | 0.0029 | 16 | c.196 others(33): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555518 | A | AAGAAAGA others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 342 | 0.0029 | 16 | c.196 others(33): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555542 | G | GAGAGAGA others(9): Show |
intron_variant | MODIFIER | NA18982.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0045a0001c0002t0001g0267 | 2 | 342 | 0.0059 | 16 | c.196 others(33): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116561711 | T | TGATAGAT others(9): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0018 | 1 | 342 | 0.0029 | 16 | c.*24 others(27): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 533 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116562940 | G | GAGGAAGG others(9): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01192.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0049a0001c0001t0001g0091others(4): Show | 7 | 342 | 0.0205 | 16 | c.*36 others(27): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1762 | chr7 | TogoVar | ||||||
CAV2_chr7_116494738_116513541 | 116498923 | A | AACACACA others(9): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02602.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0001a0002c0002t0004g0004a0002c0002t0004g0007 | 9 | 374 | 0.0241 | 16 | c.-85 others(25): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 814 | chr7 | TogoVar | ||||||
CAV3_chr3_8728802_8751758 | 8746797 | T | TCACACAC others(9): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG01433.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0003a0001c0003t0003a0002c0008t0002 | a0001c0001t0003g0035a0001c0003t0003g0026a0001c0003t0003g0027others(3): Show | 10 | 476 | 0.0210 | 16 | c.*93 others(25): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 40 | chr3 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42401668 | G | GGAAAGAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0010 | a0001c0001t0003g0044a0001c0001t0003g0047a0001c0001t0003g0061others(4): Show | 7 | 338 | 0.0207 | 16 | c.*30 others(27): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 780 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42401707 | A | AAGAAAGA others(9): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0277 | 1 | 338 | 0.0030 | 16 | c.*29 others(27): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 741 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42411207 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0023a0001c0001t0002g0174a0001c0001t0002g0269others(5): Show | 9 | 338 | 0.0266 | 16 | c.472 others(33): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42413566 | G | GAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 338 | 0.0030 | 16 | c.472 others(33): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33545439 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01106.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0037others(3): Show | a0001c0001t0001g0222a0001c0001t0001g0224a0001c0001t0001g0234others(18): Show | 21 | 298 | 0.0705 | 16 | c.34+ others(33): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33550608 | G | GTTATTTA others(9): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03130.hp2 HG03654.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0003g0123a0001c0001t0007g0008a0001c0001t0010g0075others(2): Show | 5 | 298 | 0.0168 | 16 | c.35- others(33): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33591179 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01255.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0220a0001c0001t0001g0236a0001c0001t0003g0154others(4): Show | 7 | 298 | 0.0235 | 16 | c.35- others(33): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33616078 | G | GAGATAGA others(9): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0033 | 1 | 298 | 0.0034 | 16 | c.421 others(33): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88882461 | G | GTGTGCGT others(9): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0232 | 1 | 284 | 0.0035 | 16 | c.120 others(33): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 8/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88900270 | T | TGGGCCAC others(9): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0022 | a0001c0022t0008 | a0001c0022t0008g0192 | 1 | 284 | 0.0035 | 16 | c.304 others(33): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67055357 | C | CTTTCTTT others(9): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 212 | 0.0047 | 16 | c.283 others(35): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |