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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHAF1B_chr21_36380392_36424015 | 36401574 | T | TTTTATAT others(39): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0144 | 1 | 315 | 0.0032 | 46 | c.664 others(63): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126863037 | C | CTCCTCCA others(39): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056 | 1 | 152 | 0.0066 | 46 | c.495 others(65): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | chr3 | TogoVar | |||||||
CHID1_chr11_862859_915810 | 871531 | A | AGAACACT others(39): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(361): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(298): Show |
364 | 366 | 0.9945 | 46 | c.960 others(63): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 10/12 | chr11 | TogoVar | |||||||
CHID1_chr11_862859_915810 | 871531 | A | AGAACACT others(39): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0007 | a0002c0007t0006 | a0002c0007t0006g0126 | 1 | 3 | 0.3333 | 46 | c.960 others(63): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 10/12 | chr11 | TogoVar | |||||||
CHID1_chr11_862859_915810 | 871531 | A | AGAACACT others(39): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02004.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0002c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0042 others(12): Show |
17 | 19 | 0.8947 | 46 | c.960 others(63): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 10/12 | chr11 | TogoVar | |||||||
CHODL_chr21_18239833_18272370 | 18248673 | C | CATATATG others(39): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0261 | 1 | 348 | 0.0029 | 46 | c.79+ others(61): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18251423 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03579.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0017 | a0001c0001t0005g0291 a0001c0001t0009g0282 a0001c0001t0017g0281 |
3 | 400 | 0.0075 | 46 | c.80- others(61): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | chr21 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867786 | T | TATATATA others(39): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01123.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0002g0091 a0001c0001t0004g0076 a0001c0001t0004g0079 others(11): Show |
14 | 259 | 0.0541 | 46 | c.-14 others(57): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 865 | chr7 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867926 | T | TATATATA others(39): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0009 | a0004c0009t0028 | a0004c0009t0028g0303 | 1 | 318 | 0.0031 | 46 | c.-13 others(57): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 725 | chr7 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239580704 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 96 | 0.0104 | 46 | c.-31 others(67): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRNB4_chr15_78619111_78646210 | 78632213 | C | CTTTCTTT others(39): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0016 | a0003c0016t0004 | a0003c0016t0004g0116 | 1 | 410 | 0.0024 | 46 | c.205 others(61): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33757522 | G | GAAAGAAA others(39): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0086 | 1 | 181 | 0.0055 | 46 | c.131 others(65): 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(39): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 222 | 0.0045 | 46 | c.131 others(63): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589272 | C | CCTCCTTC others(39): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0131 | 1 | 342 | 0.0029 | 46 | c.329 others(63): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697754 | A | ATATATAT others(39): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0068 |
2 | 194 | 0.0103 | 46 | c.-28 others(57): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2795 | chr8 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697754 | A | ATATATAT others(39): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 1 | 193 | 0.0052 | 46 | c.-28 others(57): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2795 | chr8 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569168 | C | CTATATAT others(39): Show |
intron_variant | MODIFIER | HG03490.hp1 NA19091.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0328 a0002c0002t0001g0052 |
2 | 208 | 0.0096 | 46 | c.111 others(63): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA18967.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 a0001c0001t0002g0284 |
2 | 212 | 0.0094 | 46 | c.111 others(63): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02027.hp2 HG02040.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0003 a0001c0001t0002g0153 a0001c0001t0002g0162 others(11): Show |
16 | 226 | 0.0708 | 46 | c.111 others(63): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02602.hp1 HG02683.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0005 | a0001c0001t0001g0204 a0001c0001t0001g0206 a0004c0004t0005g0133 |
3 | 213 | 0.0141 | 46 | c.111 others(63): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIRBP_chr19_1264332_1279810 | 1269785 | T | TTGGGCTG others(39): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0017 | 1 | 278 | 0.0036 | 46 | c.-7+ others(59): Show |
CIRBP | ENSG00000099622.14 | transcript | ENST00000587896.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLDN11_chr3_170413868_170439691 | 170415139 | G | GTATATAT others(39): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028 | 1 | 72 | 0.0139 | 46 | c.-39 others(57): Show |
CLDN11 | ENSG00000013297.12 | transcript | ENST00000064724.8 | protein_coding | 3728 | chr3 | TogoVar | |||||||
CLEC2B_chr12_9847369_9874354 | 9853071 | A | AAGAAAGA others(39): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0067 | a0001c0001t0063g0108 a0001c0001t0067g0112 |
2 | 189 | 0.0106 | 46 | c.*22 others(55): Show |
CLEC2B | ENSG00000110852.5 | transcript | ENST00000228438.3 | protein_coding | 5/5 | 228 | chr12 | TogoVar | ||||||
CLEC2B_chr12_9847369_9874354 | 9853083 | A | AAGAAAGA others(39): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01071.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 a0001c0001t0005g0015 a0001c0001t0005g0043 others(6): Show |
23 | 290 | 0.0793 | 46 | c.*21 others(55): Show |
CLEC2B | ENSG00000110852.5 | transcript | ENST00000228438.3 | protein_coding | 5/5 | 216 | chr12 | TogoVar | ||||||
CLIC4_chr1_24740447_24849321 | 24820067 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0111 | 1 | 175 | 0.0057 | 46 | c.308 others(63): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLIC4_chr1_24740447_24849321 | 24820067 | G | GTGTGTAT others(39): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 175 | 0.0057 | 46 | c.308 others(63): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 46006093 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0077 | 1 | 184 | 0.0054 | 46 | c.63+ others(61): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123119064 | T | TCTCTCTC others(39): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0132 | 1 | 223 | 0.0045 | 46 | c.29- others(63): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150479 | G | GAAAGAAA others(39): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0139 | 1 | 251 | 0.0040 | 46 | c.28+ others(63): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 139955112 | C | CTATATAT others(39): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0019 | a0001c0019t0021 | a0001c0019t0021g0036 | 1 | 14 | 0.0714 | 46 | c.109 others(65): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLTCL1_chr22_19174473_19296719 | 19291858 | C | CCCCGCCC others(39): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02451.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0150 a0001c0003t0001g0156 |
2 | 227 | 0.0088 | 46 | c.-21 others(55): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 140 | chr22 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 623034 | C | CTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 14 | 0.0714 | 46 | c.256 others(63): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 627027 | G | GAGAGAGA others(39): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 204 | 0.0049 | 46 | c.424 others(59): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 627030 | A | AGAAAGAA others(39): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 122 | 0.0082 | 46 | c.424 others(59): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CMBL_chr5_10272595_10312902 | 10312590 | A | ATGCAGTG others(39): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 348 | 0.0029 | 46 | c.-49 others(57): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 4689 | chr5 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206172773 | A | AGGGAGAC others(39): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 311 | 0.0032 | 46 | c.*34 others(57): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2542 | chr2 | TogoVar | |||||||
CMTM4_chr16_66609750_66701743 | 66631147 | A | ACCCCGTC others(39): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(13): Show | a0001c0001t0003g0006 a0001c0001t0003g0206 a0001c0001t0003g0246 others(76): Show |
81 | 316 | 0.2563 | 46 | c.363 others(63): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CMTM4_chr16_66609750_66701743 | 66631147 | A | ACCCCGTC others(39): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01069.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 a0001c0001t0007g0020 |
2 | 237 | 0.0084 | 46 | c.363 others(63): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CMTM4_chr16_66609750_66701743 | 66631155 | C | TGGGAGGG others(39): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02572.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0007g0019 others(2): Show |
5 | 318 | 0.0157 | 46 | c.363 others(63): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CNGA2_chrX_151729746_151750564 | 151742927 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0109 | 1 | 313 | 0.0032 | 46 | c.590 others(61): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151742929 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0084 | 1 | 319 | 0.0031 | 46 | c.590 others(61): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151742929 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0086 | 1 | 319 | 0.0031 | 46 | c.590 others(61): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTCTTT others(39): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 227 | 0.0044 | 46 | c.*43 others(57): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTCTTT others(39): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG02735.hp1 NA18956.hp2 others(1): Show |
a0001a0002a0019 | a0001c0004a0001c0007a0002c0005others(1): Show | a0001c0004t0001a0001c0007t0008a0002c0005t0001others(1): Show | a0001c0004t0001g0150 a0001c0007t0008g0356 a0002c0005t0001g0101 others(1): Show |
4 | 230 | 0.0174 | 46 | c.*43 others(57): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTCTTT others(39): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02040.hp2 NA18972.hp2 |
a0001a0002 | a0001c0004a0002c0005 | a0001c0004t0001a0002c0005t0001 | a0001c0004t0001g0117 a0001c0004t0001g0119 a0002c0005t0001g0319 |
3 | 229 | 0.0131 | 46 | c.*43 others(57): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTTTCT others(39): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 NA18942.hp2 NA19067.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0017others(1): Show | a0001c0001t0017a0001c0003t0001a0001c0017t0017others(1): Show | a0001c0001t0017g0224 a0001c0003t0001g0202 a0001c0017t0017g0033 others(1): Show |
4 | 230 | 0.0174 | 46 | c.*43 others(57): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | |||||||
CNIH4_chr1_224351879_224384452 | 224363294 | T | TCGGCCTC others(39): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0086 | 1 | 322 | 0.0031 | 46 | c.139 others(63): Show |
CNIH4 | ENSG00000143771.12 | transcript | ENST00000465271.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNOT10_chr3_32680188_32778875 | 32761604 | G | GGAGTGCA others(39): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 352 | 0.0028 | 46 | c.171 others(65): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133769 | C | CTCCCTCC others(39): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 196 | 0.0051 | 46 | c.-42 others(57): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3992 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CTCCCTCC others(39): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 68 | 0.0147 | 46 | c.-42 others(57): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar |