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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD8_chr14_21380199_21461123 | 21442738 | C | CGGGAGGA others(33): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 150 | 0.0067 | 40 | c.-21 others(61): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53131074 | G | GCCGCCGC others(33): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0166 | 1 | 235 | 0.0043 | 40 | c.-16 others(61): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53146419 | G | GTATGTAT others(33): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02129.hp1 HG02155.hp2 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0002a0001c0017t0002 | a0001c0003t0002g0045 a0001c0003t0002g0053 a0001c0017t0002g0237 |
3 | 36 | 0.0833 | 40 | c.-16 others(59): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53146419 | G | GTGTATAT others(33): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 a0001c0001t0003g0223 |
2 | 35 | 0.0571 | 40 | c.-16 others(59): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 881475 | G | GACCACGT others(33): Show |
intron_variant | MODIFIER | NA18978.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0183 |
2 | 218 | 0.0092 | 40 | c.959 others(57): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 10/12 | chr11 | TogoVar | |||||||
CHMP3_chr2_86498430_86568443 | 86502001 | G | GAAGGTTA others(33): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0031 | 1 | 334 | 0.0030 | 40 | c.*38 others(51): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1428 | chr2 | TogoVar | |||||||
CHMP6_chr17_80986841_81005133 | 80994696 | T | TGGGGCCC others(33): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 2 | 154 | 0.0130 | 40 | c.173 others(53): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 80994733 | T | TGGGGGGC others(33): Show |
intron_variant | MODIFIER | HG03831.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 432 | 0.0046 | 40 | c.173 others(53): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 80994811 | T | TGGGGGGC others(33): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 433 | 0.0023 | 40 | c.173 others(55): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 80994884 | T | TGGGGTGG others(33): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 436 | 0.0023 | 40 | c.174 others(54): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273339 | A | ATATATGT others(33): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 228 | 0.0044 | 40 | c.49+ others(57): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273339 | A | ATATATGT others(33): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 228 | 0.0044 | 40 | c.49+ others(57): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29442934 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0183 | 1 | 89 | 0.0112 | 40 | c.577 others(59): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29472281 | A | ACACACAC others(33): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG01071.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0001g0069 a0001c0001t0001g0129 a0001c0001t0005g0209 others(18): Show |
21 | 200 | 0.1050 | 40 | c.577 others(57): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29472281 | A | ACACACAC others(33): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0111 a0001c0001t0003g0113 |
2 | 181 | 0.0110 | 40 | c.577 others(57): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHP2_chr16_23750026_23763935 | 23759381 | C | CTTCTTTC others(33): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 HG02129.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(1): Show |
5 | 115 | 0.0435 | 40 | c.*17 others(51): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 447 | chr16 | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110689500 | C | CTATCTAT others(33): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0003 | a0002c0003t0033 | a0002c0003t0033g0016 | 1 | 160 | 0.0063 | 40 | c.779 others(55): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRFAM7A_chr15_30355566_30398540 | 30393865 | G | GTGTGTGT others(33): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 HG03710.hp1 HG04115.hp2 |
a0001a0006 | a0001c0001a0001c0007a0006c0025 | a0001c0001t0025a0001c0007t0001a0006c0025t0004 | a0001c0001t0025g0083 a0001c0007t0001g0081 a0006c0025t0004g0059 |
3 | 89 | 0.0337 | 40 | c.-77 others(49): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 326 | chr15 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867905 | T | TATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0272 a0001c0001t0008g0273 |
2 | 318 | 0.0063 | 40 | c.-13 others(51): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 746 | chr7 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867924 | G | GATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0317 | 1 | 258 | 0.0039 | 40 | c.-13 others(51): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 727 | chr7 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867981 | G | GATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00741.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0036a0001c0001t0037others(2): Show | a0001c0001t0012g0055 a0001c0001t0012g0060 a0001c0001t0012g0061 others(8): Show |
11 | 316 | 0.0348 | 40 | c.-12 others(51): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 670 | chr7 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 137000547 | A | AGAAGGAA others(33): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0253 | 1 | 96 | 0.0104 | 40 | c.-47 others(57): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 137000567 | G | GGAAGGAA others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00738.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(15): Show |
18 | 286 | 0.0629 | 40 | c.-47 others(57): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239407417 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0072 | 1 | 93 | 0.0108 | 40 | c.-52 others(61): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239684748 | G | GAGAAAGA others(33): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03098.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0024others(1): Show | a0001c0001t0005g0053 a0001c0001t0016g0114 a0001c0001t0024g0088 others(1): Show |
4 | 76 | 0.0526 | 40 | c.-14 others(59): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42703435 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02165.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 a0001c0001t0002g0210 |
2 | 168 | 0.0119 | 40 | c.53- others(55): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104544159 | A | AAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 238 | 0.0042 | 40 | c.119 others(59): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757522 | G | GAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 181 | 0.0055 | 40 | c.131 others(59): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757522 | G | GAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 181 | 0.0055 | 40 | c.131 others(59): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33765053 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 222 | 0.0045 | 40 | c.131 others(57): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33765070 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 200 | 0.0050 | 40 | c.131 others(57): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101185413 | A | ACCTCCAT others(33): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0195 | 1 | 10 | 0.1000 | 40 | c.817 others(57): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101185454 | T | TCTCCATG others(33): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0213 | 1 | 420 | 0.0024 | 40 | c.817 others(57): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101185494 | C | CCTCCATG others(33): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 420 | 0.0024 | 40 | c.817 others(57): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108553894 | T | TACAAAAA others(33): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0287 | 1 | 117 | 0.0085 | 40 | c.232 others(57): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 18/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569168 | C | CTATATAT others(33): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG02027.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0120 a0001c0001t0004g0016 a0001c0001t0004g0305 others(4): Show |
8 | 214 | 0.0374 | 40 | c.111 others(57): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569177 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0342 | 1 | 338 | 0.0030 | 40 | c.111 others(57): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569179 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0290 | 1 | 359 | 0.0028 | 40 | c.111 others(57): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569179 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02723.hp1 |
a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0286 a0005c0006t0007g0289 |
2 | 360 | 0.0056 | 40 | c.111 others(57): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 a0001c0001t0002g0340 |
2 | 212 | 0.0094 | 40 | c.111 others(57): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG01261.hp2 others(13): Show |
a0001a0010 | a0001c0001a0001c0013a0010c0012 | a0001c0001t0002a0001c0001t0009a0001c0013t0002others(1): Show | a0001c0001t0002g0012 a0001c0001t0002g0172 a0001c0001t0002g0173 others(12): Show |
16 | 226 | 0.0708 | 40 | c.111 others(57): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02818.hp2 HG02965.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0005 | a0001c0001t0001g0196 a0001c0001t0001g0205 a0004c0004t0005g0130 others(1): Show |
4 | 214 | 0.0187 | 40 | c.111 others(57): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIRBP_chr19_1264332_1279810 | 1275931 | C | CCTCCCTC others(33): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0018 | 1 | 260 | 0.0038 | 40 | c.*34 others(51): Show |
CIRBP | ENSG00000099622.14 | transcript | ENST00000587896.6 | protein_coding | 1122 | chr19 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119829344 | A | AAGAAGAG others(33): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA19043.hp2 |
a0001a0005 | a0001c0001a0005c0018 | a0001c0001t0001a0005c0018t0006 | a0001c0001t0001g0034 a0005c0018t0006g0005 a0005c0018t0006g0006 |
3 | 25 | 0.1200 | 40 | c.753 others(57): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33506377 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0056 | 1 | 99 | 0.0101 | 40 | c.431 others(59): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 37/38 | chr3 | TogoVar | |||||||
CLCC1_chr1_108924505_108968484 | 108956874 | T | TGGGAGGC others(33): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02818.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0006a0002c0003t0011 | a0001c0002t0006g0073 a0002c0003t0011g0036 |
2 | 214 | 0.0093 | 40 | c.-12 others(57): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CLCC1_chr1_108924505_108968484 | 108956874 | T | TGGGAGGC others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(93): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(7): Show | a0001c0001t0001g0084 a0001c0001t0007g0144 a0001c0002t0001g0008 others(50): Show |
96 | 308 | 0.3117 | 40 | c.-12 others(57): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CLCC1_chr1_108924505_108968484 | 108956874 | T | TGGGAGGC others(33): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0186 | 1 | 213 | 0.0047 | 40 | c.-12 others(57): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CLCC1_chr1_108924505_108968484 | 108956874 | T | TGGGAGGC others(33): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0188 | 1 | 213 | 0.0047 | 40 | c.-12 others(57): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CLCN3_chr4_169615578_169728673 | 169679327 | C | CGGGATGG others(33): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18747.hp2 NA18994.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0134 a0001c0001t0001g0137 others(1): Show |
5 | 286 | 0.0175 | 40 | c.161 others(55): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |