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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLUL1_chr18_591988_655182 | 627013 | A | AAGAGAAA others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 347 | 0.0029 | 22 | c.424 others(35): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 627017 | A | AAGAGAAA others(15): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18975.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0229 a0001c0001t0001g0248 |
3 | 343 | 0.0087 | 22 | c.424 others(35): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 627028 | A | AGAAAGAA others(15): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0313 a0001c0001t0004g0128 |
2 | 400 | 0.0050 | 22 | c.424 others(35): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLVS1_chr8_61282970_61506629 | 61357494 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18968.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0002g0144 |
3 | 41 | 0.0732 | 22 | c.456 others(41): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123048788 | T | TGCATAAT others(15): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0127 | 1 | 334 | 0.0030 | 22 | c.675 others(35): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123075325 | C | CTTTCTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0266 | 1 | 314 | 0.0032 | 22 | c.*11 others(35): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2401 | chr6 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99793033 | A | AAAACACA others(15): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02572.hp2 HG03453.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0089 others(2): Show |
5 | 93 | 0.0538 | 22 | c.249 others(41): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99797560 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG02886.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(10): Show |
13 | 46 | 0.2826 | 22 | c.249 others(41): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99833007 | C | CATACATA others(15): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0201 |
2 | 78 | 0.0256 | 22 | c.250 others(41): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28258060 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 82 | 0.0122 | 22 | c.20- others(37): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965211 | A | ATATGTAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 401 | 0.0025 | 22 | c.*10 others(35): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1236 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80971562 | T | TTATATAT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02976.hp1 |
a0002 | a0002c0002 | a0002c0002t0037a0002c0002t0052 | a0002c0002t0037g0026 a0002c0002t0052g0298 |
2 | 282 | 0.0071 | 22 | c.*45 others(33): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4530 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80971599 | C | CATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0177 | 1 | 365 | 0.0027 | 22 | c.*44 others(33): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4493 | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81520569 | G | GGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02135.hp1 HG02135.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0038 a0001c0001t0002g0207 a0001c0001t0002g0228 others(4): Show |
7 | 87 | 0.0805 | 22 | c.300 others(41): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81667799 | A | AGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG03130.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0200 a0001c0001t0003g0098 |
2 | 120 | 0.0167 | 22 | c.826 others(39): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99828916 | T | TATCATCC others(15): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02109.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0190 a0001c0001t0006g0003 a0001c0001t0006g0004 others(3): Show |
6 | 229 | 0.0262 | 22 | c.64+ others(39): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99984048 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(93): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0021 others(93): Show |
96 | 166 | 0.5783 | 22 | c.65- others(41): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99991951 | T | TATATATG others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0002 | 1 | 229 | 0.0044 | 22 | c.65- others(41): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 100074675 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 17 | 0.0588 | 22 | c.65- others(39): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM4_chr16_66609750_66701743 | 66683189 | A | ACGTATAT others(15): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0022 | 1 | 315 | 0.0032 | 22 | c.186 others(41): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CMTM7_chr3_32386853_32460528 | 32430681 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(10): Show |
13 | 181 | 0.0718 | 22 | c.160 others(41): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32295455 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0189 | 1 | 196 | 0.0051 | 22 | c.147 others(41): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03942.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0193 a0001c0001t0001g0296 |
3 | 61 | 0.0492 | 22 | c.148 others(41): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02145.hp1 HG02257.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 others(9): Show |
13 | 71 | 0.1831 | 22 | c.148 others(41): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG02602.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0036 a0001c0001t0001g0062 a0001c0001t0001g0084 others(17): Show |
20 | 78 | 0.2564 | 22 | c.148 others(41): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02886.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0235 others(3): Show |
6 | 64 | 0.0938 | 22 | c.148 others(41): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32361286 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00733.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 others(33): Show |
36 | 90 | 0.4000 | 22 | c.321 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32361286 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0107 |
2 | 56 | 0.0357 | 22 | c.321 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32361286 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01943.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0120 others(5): Show |
8 | 62 | 0.1290 | 22 | c.321 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32361291 | T | TTTTTTGT others(15): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 340 | 0.0029 | 22 | c.321 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32361291 | T | TTTTTTGT others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 340 | 0.0029 | 22 | c.321 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79726909 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | NA19066.hp2 NA19080.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 a0002c0002t0001g0128 |
2 | 158 | 0.0127 | 22 | c.150 others(39): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778811 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0082 | a0082c0059 | a0082c0059t0001 | a0082c0059t0001g0298 | 1 | 197 | 0.0051 | 22 | c.115 others(45): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778811 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18612.hp2 NA18995.hp2 |
a0001a0019 | a0001c0001a0019c0028 | a0001c0001t0001a0001c0001t0002a0019c0028t0001 | a0001c0001t0001g0173 a0001c0001t0002g0137 a0019c0028t0001g0045 |
3 | 199 | 0.0151 | 22 | c.115 others(45): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778811 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0311 | 1 | 197 | 0.0051 | 22 | c.115 others(45): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778811 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 197 | 0.0051 | 22 | c.115 others(45): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778813 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03486.hp1 |
a0033 | a0033c0043 | a0033c0043t0001 | a0033c0043t0001g0183 a0033c0043t0001g0267 |
2 | 258 | 0.0078 | 22 | c.115 others(45): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778815 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03831.hp1 NA19085.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0067 a0002c0002t0001g0131 |
2 | 349 | 0.0057 | 22 | c.115 others(45): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778815 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01981.hp1 others(4): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0006c0004t0001others(2): Show | a0001c0001t0001g0235 a0002c0002t0001g0222 a0006c0004t0001g0083 others(4): Show |
7 | 354 | 0.0198 | 22 | c.115 others(45): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86900220 | G | GTATGTTC others(15): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 152 | 0.0066 | 22 | c.159 others(39): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87129069 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02818.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0058 others(1): Show |
4 | 6 | 0.6667 | 22 | c.432 others(41): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129181239 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0309 | 1 | 5 | 0.2000 | 22 | c.-15 others(39): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129181649 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0318 | 1 | 43 | 0.0233 | 22 | c.-15 others(39): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNDP1_chr18_74529500_74592212 | 74551361 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0386 | 1 | 37 | 0.0270 | 22 | c.25- others(37): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNGA3_chr2_98341456_98403601 | 98367167 | G | GTTTATTT others(15): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 307 | 0.0033 | 22 | c.-37 others(39): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNGA4_chr11_6234089_6249479 | 6247043 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02293.hp2 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0022 |
5 | 74 | 0.0676 | 22 | c.*26 others(33): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 2565 | chr11 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879788 | T | TCTTTCCT others(15): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0006 | 1 | 274 | 0.0036 | 22 | c.*43 others(33): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2551 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879788 | T | TCTTTCTT others(15): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 NA19088.hp2 |
a0001a0003 | a0001c0029a0003c0008 | a0001c0029t0002a0003c0008t0002 | a0001c0029t0002g0034 a0003c0008t0002g0120 |
2 | 275 | 0.0073 | 22 | c.*43 others(33): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2551 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTCTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02818.hp2 |
a0002a0006 | a0002c0005a0006c0087 | a0002c0005t0001a0006c0087t0001 | a0002c0005t0001g0316 a0006c0087t0001g0211 |
2 | 228 | 0.0088 | 22 | c.*43 others(33): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57885557 | C | CCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02148.hp2 HG03471.hp1 |
a0001a0010 | a0001c0002a0010c0010 | a0001c0002t0003a0001c0002t0013a0010c0010t0003 | a0001c0002t0003g0113 a0001c0002t0013g0041 a0010c0010t0003g0030 |
3 | 238 | 0.0126 | 22 | c.346 others(41): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar |