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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD9_chr16_53049991_53332497 | 53146419 | G | GTATGTAT others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0102 |
2 | 35 | 0.0571 | 24 | c.-16 others(43): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132850964 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02970.hp1 NA19043.hp1 |
a0001 | a0001c0005 | a0001c0005t0024a0001c0005t0075 | a0001c0005t0024g0176 a0001c0005t0075g0175 |
2 | 19 | 0.1053 | 24 | c.149 others(41): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 12/17 | chr12 | TogoVar | |||||||
CHGA_chr14_92918150_92940285 | 92934709 | G | GGCCACAC others(17): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0102 | 1 | 446 | 0.0022 | 24 | c.129 others(39): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5926122 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0012 | 1 | 81 | 0.0123 | 24 | c.*10 others(35): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 770 | chr20 | TogoVar | |||||||
CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0014others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show |
175 | 482 | 0.3631 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | TogoVar | |||
CHL1_chr3_191763_414417 | 194897 | A | ATCCTTCC others(17): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02615.hp1 HG02622.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0037a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0037g0238 a0002c0002t0001g0125 a0002c0002t0002g0250 others(3): Show |
6 | 282 | 0.0213 | 24 | c.-23 others(35): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1865 | chr3 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 194906 | C | CCCTTCCT others(17): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0006 | 1 | 118 | 0.0085 | 24 | c.-23 others(35): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1856 | chr3 | TogoVar | |||||||
CHMP7_chr8_23238637_23266999 | 23241367 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 | 1 | 58 | 0.0172 | 24 | c.-29 others(35): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2269 | chr8 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02559.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0117 a0001c0001t0001g0168 a0001c0001t0006g0111 |
3 | 47 | 0.0638 | 24 | c.116 others(43): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85949978 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG01993.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0149 others(10): Show |
13 | 29 | 0.4483 | 24 | c.116 others(43): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85981204 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0012a0005c0009t0006 | a0002c0004t0012g0235 a0005c0009t0006g0229 |
2 | 239 | 0.0084 | 24 | c.189 others(39): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 3/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85981206 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 others(4): Show |
7 | 186 | 0.0376 | 24 | c.189 others(39): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 3/14 | chrX | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174858979 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 115 | 0.0087 | 24 | c.550 others(43): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29195595 | C | CGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 | 1 | 143 | 0.0070 | 24 | c.49+ others(37): 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(17): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0204 | 1 | 119 | 0.0084 | 24 | c.49+ others(37): 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(17): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18972.hp2 NA18998.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0172 a0001c0001t0003g0193 a0001c0002t0002g0183 others(1): Show |
4 | 122 | 0.0328 | 24 | c.49+ others(37): 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(17): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0173 | 1 | 119 | 0.0084 | 24 | c.49+ others(37): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29252578 | G | GTTGTTTT others(17): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0170 | 1 | 117 | 0.0085 | 24 | c.49+ others(41): 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(17): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03209.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0010a0001c0005t0001 | a0001c0002t0010g0215 a0001c0005t0001g0031 |
2 | 118 | 0.0169 | 24 | c.49+ others(41): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273349 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 | 1 | 219 | 0.0046 | 24 | c.49+ others(41): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273351 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 225 | 0.0044 | 24 | c.49+ others(41): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273353 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0096 | 1 | 227 | 0.0044 | 24 | c.49+ others(41): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29305805 | T | TTCCTCCT others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0017 others(42): Show |
45 | 230 | 0.1957 | 24 | c.50- others(41): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29374801 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0022 | 1 | 40 | 0.0250 | 24 | c.144 others(41): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29437597 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0209 | 1 | 160 | 0.0063 | 24 | c.576 others(43): 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(17): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02572.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0019 a0001c0001t0003g0134 a0001c0002t0002g0090 others(1): Show |
4 | 92 | 0.0435 | 24 | c.577 others(43): 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(17): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00733.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show |
30 | 140 | 0.2143 | 24 | c.*17 others(35): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 447 | chr16 | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110674457 | C | CCACACAC others(17): Show |
3_prime_UTR_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0005 | 1 | 46 | 0.0217 | 24 | c.*17 others(35): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 12/12 | 1773 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689598 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 155 | 0.0065 | 24 | c.779 others(39): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRFAM7A_chr15_30355566_30398540 | 30393857 | C | CTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 95 | 0.0105 | 24 | c.-76 others(33): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 318 | chr15 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62924668 | C | CTCTCTCT others(17): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 228 | 0.0044 | 24 | c.-35 others(35): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 137000547 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG03017.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0029 | a0001c0001t0003g0120 a0001c0001t0029g0177 |
2 | 97 | 0.0206 | 24 | c.-47 others(41): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 137011215 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02738.hp2 NA19007.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0056a0001c0001t0086a0001c0002t0017 | a0001c0001t0056g0216 a0001c0001t0086g0058 a0001c0002t0017g0241 |
3 | 248 | 0.0121 | 24 | c.-46 others(41): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239383054 | G | GTCTCTCT others(17): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00639.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0011g0071 others(7): Show |
10 | 58 | 0.1724 | 24 | c.-46 others(35): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3513 | chr1 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239385815 | C | CTCTCTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0080 | 1 | 36 | 0.0278 | 24 | c.-19 others(35): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 752 | chr1 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239403976 | G | GGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 19 | 0.0526 | 24 | c.-52 others(45): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239634376 | C | CGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01433.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0014 a0001c0001t0002g0037 a0001c0001t0002g0051 others(1): Show |
4 | 61 | 0.0656 | 24 | c.-25 others(43): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239662893 | C | CTCTTCTT others(17): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 7 | 0.1429 | 24 | c.-24 others(45): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239766672 | T | TATATAGA others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0026 | 1 | 36 | 0.0278 | 24 | c.-14 others(45): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRNA1_chr2_174742592_174769472 | 174768221 | T | TATACAAT others(17): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | 24 | c.-38 others(35): Show |
CHRNA1 | ENSG00000138435.16 | transcript | ENST00000348749.9 | protein_coding | 3750 | chr2 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63351204 | A | ACCCATGC others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0049 | 1 | 134 | 0.0075 | 24 | c.384 others(39): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63359901 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01192.hp2 HG04204.hp1 NA18971.hp1 others(2): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0004 | a0001c0002t0001g0001 a0001c0002t0001g0078 a0001c0002t0001g0091 others(2): Show |
5 | 162 | 0.0309 | 24 | c.77- others(37): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63359905 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0134 | 1 | 165 | 0.0061 | 24 | c.77- others(37): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63359907 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0040 | 1 | 154 | 0.0065 | 24 | c.77- others(37): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78570424 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02155.hp1 NA18747.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0003 | a0001c0001t0012g0160 a0002c0002t0003g0027 a0002c0002t0003g0028 others(5): Show |
10 | 98 | 0.1020 | 24 | c.106 others(41): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32044253 | C | CTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG01361.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0012a0001c0003t0001a0001c0014t0001 | a0001c0001t0012g0290 a0001c0001t0012g0292 a0001c0003t0001g0288 others(2): Show |
5 | 27 | 0.1852 | 24 | c.195 others(43): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32049025 | G | GTCTGAAA others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(129): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(46): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(127): Show |
132 | 306 | 0.4314 | 24 | c.195 others(43): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42703435 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0246 | 1 | 167 | 0.0060 | 24 | c.53- others(39): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42717403 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01258.hp2 HG01433.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0102 others(15): Show |
19 | 34 | 0.5588 | 24 | c.249 others(41): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104475658 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0006 | 1 | 92 | 0.0109 | 24 | c.118 others(43): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |