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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHKA_chr11_68047859_68126388 | 68060032 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 276 | 0.0036 | 14 | c.131 others(33): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 11/11 | chr11 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 252361 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03209.hp2 HG03688.hp1 others(3): Show |
a0001a0004a0009others(1): Show | a0001c0001a0004c0004a0009c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0004c0004t0006others(2): Show | a0001c0001t0001g0233 a0001c0001t0001g0270 a0001c0001t0003g0258 others(3): Show |
6 | 290 | 0.0207 | 14 | c.-95 others(31): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 255486 | T | TTGTTTGA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(79): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0028others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0057 a0001c0001t0001g0144 a0001c0001t0001g0205 others(79): Show |
82 | 290 | 0.2828 | 14 | c.-95 others(33): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 314329 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG03710.hp1 HG03927.hp1 HG04115.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0134 a0001c0001t0001g0171 a0001c0001t0003g0258 others(2): Show |
5 | 290 | 0.0172 | 14 | c.-94 others(31): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 314329 | G | GTGTATAT others(7): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 290 | 0.0035 | 14 | c.-94 others(31): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 314329 | G | GTGTGTAT others(7): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0107 | 1 | 290 | 0.0035 | 14 | c.-94 others(31): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 333124 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00639.hp2 others(37): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(37): Show |
40 | 290 | 0.1379 | 14 | c.385 others(31): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHMP1B_chr18_11846413_11859444 | 11846464 | T | TACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0000 | 1 | 438 | 0.0023 | 14 | c.-50 others(25): Show |
CHMP1B | ENSG00000255112.3 | transcript | ENST00000526991.3 | protein_coding | 4948 | chr18 | TogoVar | |||||||
CHMP2A_chr19_58546566_58560105 | 58546998 | G | GTGTAGGC others(7): Show |
downstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 420 | 0.0024 | 14 | c.*46 others(25): Show |
CHMP2A | ENSG00000130724.10 | transcript | ENST00000312547.7 | protein_coding | 4567 | chr19 | TogoVar | |||||||
CHMP2B_chr3_87222309_87260556 | 87257949 | A | AATAATAA others(7): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 14 | c.*41 others(25): Show |
CHMP2B | ENSG00000083937.10 | transcript | ENST00000263780.9 | protein_coding | 2394 | chr3 | TogoVar | |||||||
CHMP3_chr2_86498430_86568443 | 86550401 | G | GGGGAGAG others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0193 a0001c0001t0001g0246 a0001c0001t0002g0026 others(5): Show |
8 | 336 | 0.0238 | 14 | c.46- others(29): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHMP4B_chr20_33806348_33859366 | 33830933 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 others(46): Show |
84 | 332 | 0.2530 | 14 | c.191 others(33): Show |
CHMP4B | ENSG00000101421.4 | transcript | ENST00000217402.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHMP4C_chr8_81727448_81764515 | 81751333 | G | GATTGTTA others(7): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 408 | 0.0025 | 14 | c.191 others(31): Show |
CHMP4C | ENSG00000164695.5 | transcript | ENST00000297265.5 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
CHMP6_chr17_80986841_81005133 | 80988884 | G | GGTGTGTG others(7): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01943.hp2 HG02004.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0022 others(5): Show |
13 | 438 | 0.0297 | 14 | c.-30 others(25): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2956 | chr17 | TogoVar | |||||||
CHMP6_chr17_80986841_81005133 | 80995561 | A | ACGCCCAG others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02895.hp1 HG03098.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0013 a0001c0002t0005g0041 a0001c0002t0005g0042 others(4): Show |
11 | 438 | 0.0251 | 14 | c.262 others(28): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHMP7_chr8_23238637_23266999 | 23241367 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0077 | 1 | 438 | 0.0023 | 14 | c.-29 others(25): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2269 | chr8 | TogoVar | |||||||
CHMP7_chr8_23238637_23266999 | 23252195 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(109): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 others(84): Show |
112 | 438 | 0.2557 | 14 | c.471 others(31): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0234 | 1 | 245 | 0.0041 | 14 | c.*83 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85906268 | T | TCTTGTTA others(7): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 245 | 0.0041 | 14 | c.124 others(33): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85911129 | G | GTGTATAT others(7): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 245 | 0.0041 | 14 | c.124 others(31): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85911190 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0021 | a0001c0001t0007g0079 a0001c0001t0012g0224 a0001c0001t0021g0244 |
3 | 245 | 0.0122 | 14 | c.124 others(29): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913328 | A | AAGAAAGA others(7): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0198 | 1 | 245 | 0.0041 | 14 | c.116 others(33): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAAAAGA others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02135.hp1 HG02145.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(2): Show | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0002g0189 others(3): Show |
6 | 245 | 0.0245 | 14 | c.116 others(33): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAGAAAGA others(7): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02080.hp1 HG03239.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0132 others(2): Show |
5 | 245 | 0.0204 | 14 | c.116 others(33): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85949978 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01516.hp1 HG01975.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0007a0002c0004t0014 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(11): Show |
14 | 245 | 0.0571 | 14 | c.116 others(33): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 86013733 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0040 a0001c0001t0001g0090 a0001c0001t0001g0094 others(19): Show |
22 | 245 | 0.0898 | 14 | c.116 others(33): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 86013733 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00735.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0047 a0001c0002t0001g0058 a0001c0002t0001g0067 others(27): Show |
30 | 245 | 0.1225 | 14 | c.116 others(33): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174807446 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18968.hp1 NA18974.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0164 others(2): Show |
5 | 276 | 0.0181 | 14 | c.110 others(33): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174858979 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02300.hp2 HG02451.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0066 others(11): Show |
14 | 276 | 0.0507 | 14 | c.550 others(33): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29195595 | C | CGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01934.hp2 HG02055.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0025others(3): Show | a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0006g0036 others(5): Show |
8 | 232 | 0.0345 | 14 | c.49+ others(27): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29195629 | A | AGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0116 a0001c0001t0019g0115 |
2 | 232 | 0.0086 | 14 | c.49+ others(27): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29195629 | A | AGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0132 | 1 | 232 | 0.0043 | 14 | c.49+ others(27): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29220280 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02897.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0026 | a0001c0001t0011g0164 a0001c0002t0026g0209 |
2 | 232 | 0.0086 | 14 | c.49+ others(31): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29233825 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01934.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0130 others(18): Show |
21 | 232 | 0.0905 | 14 | c.49+ others(31): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29252578 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 NA19063.hp2 NA19074.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0003g0107 a0001c0002t0002g0100 a0001c0002t0004g0095 others(1): Show |
4 | 232 | 0.0172 | 14 | c.49+ others(31): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29268283 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0076 others(36): Show |
39 | 232 | 0.1681 | 14 | c.49+ others(31): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29295314 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0003g0079 a0001c0001t0006g0144 a0001c0001t0007g0212 others(10): Show |
13 | 232 | 0.0560 | 14 | c.50- others(31): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29352350 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0033 | 1 | 232 | 0.0043 | 14 | c.50- others(29): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29405164 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01169.hp1 HG01952.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0141 a0001c0001t0003g0087 a0001c0001t0003g0096 others(4): Show |
7 | 232 | 0.0302 | 14 | c.576 others(31): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29442934 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01928.hp2 HG02293.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0002a0002c0003t0002a0002c0003t0004others(1): Show | a0001c0002t0002g0100 a0001c0002t0002g0215 a0002c0003t0002g0070 others(3): Show |
6 | 232 | 0.0259 | 14 | c.577 others(33): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29482797 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0178 | 1 | 232 | 0.0043 | 14 | c.654 others(31): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18265310 | C | CACACATA others(7): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0248 | 1 | 402 | 0.0025 | 14 | c.738 others(29): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110674457 | C | CCACACAC others(7): Show |
3_prime_UTR_variant | MODIFIER | HG03453.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0167 a0001c0001t0020g0168 |
2 | 172 | 0.0116 | 14 | c.*17 others(25): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 12/12 | 1773 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689524 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG03195.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0019a0001c0001t0020others(3): Show | a0001c0001t0001g0103 a0001c0001t0019g0005 a0001c0001t0020g0167 others(4): Show |
7 | 172 | 0.0407 | 14 | c.779 others(29): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110689526 | A | ATATATCT others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 |
2 | 172 | 0.0116 | 14 | c.779 others(29): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110689897 | A | ATATCTAT others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0099 | 1 | 172 | 0.0058 | 14 | c.779 others(31): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110705304 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0004 | a0004c0005 | a0004c0005t0050 | a0004c0005t0050g0072 | 1 | 172 | 0.0058 | 14 | c.542 others(31): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 6/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110747409 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG02886.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0019a0001c0002t0008a0001c0002t0023others(2): Show | a0001c0001t0019g0005 a0001c0002t0008g0010 a0001c0002t0023g0013 others(2): Show |
5 | 172 | 0.0291 | 14 | c.301 others(33): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4/11 | chrX | TogoVar | |||||||
CHRFAM7A_chr15_30355566_30398540 | 30393857 | C | CTGTGTGT others(7): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG03490.hp1 |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0024 | a0003c0003t0002g0015 a0003c0003t0024g0018 |
2 | 133 | 0.0150 | 14 | c.-76 others(23): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 318 | chr15 | TogoVar | |||||||
CHRFAM7A_chr15_30355566_30398540 | 30393872 | T | TGTGTGGT others(7): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0036 | 1 | 133 | 0.0075 | 14 | c.-77 others(23): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 333 | chr15 | TogoVar |