| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 53171861 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02897.hp1 HG02922.hp2 others(6): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0018 | a0001c0005t0004g0169a0001c0005t0004g0231a0001c0005t0004g0232others(6): Show | 9 | 238 | 0.0378 | -20 | c.145 others(41): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHD9_chr16_53049991_53332497 | 53217912 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00609.hp1 others(61): Show |
a0001a0002a0004others(1): Show | a0001c0005a0002c0002a0002c0019others(2): Show | a0001c0005t0004a0001c0005t0012a0001c0005t0018others(6): Show | a0001c0005t0004g0078a0001c0005t0004g0104a0001c0005t0004g0169others(61): Show | 64 | 238 | 0.2689 | -20 | c.178 others(39): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHGB_chr20_5906510_5930353 | 5910014 | TAATACAA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG02559.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0002 | a0001c0001t0001g0044a0001c0001t0001g0104a0002c0002t0002g0022others(5): Show | 9 | 440 | 0.0205 | -20 | c.-16 others(31): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 1495 | chr20 | TogoVar | ||||||
| CHGB_chr20_5906510_5930353 | 5918810 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 2 | 440 | 0.0046 | -20 | c.190 others(37): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CHGB_chr20_5906510_5930353 | 5926082 | TATATATA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01517.hp1 HG02015.hp1 |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0032a0008c0008t0001g0010 | 2 | 440 | 0.0046 | -20 | c.*10 others(31): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 730 | chr20 | TogoVar | ||||||
| CHIC1_chrX_73558197_73692111 | 73628465 | ACTGGAAT others(13): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084a0001c0001t0002g0085 | 2 | 208 | 0.0096 | -20 | c.507 others(39): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CHKB_chr22_50573963_50587849 | 50582835 | GGCTCGGT others(13): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(62): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0008a0004c0005t0002 | a0001c0001t0002g0002a0001c0001t0002g0016a0001c0001t0002g0024others(2): Show | 65 | 416 | 0.1563 | -20 | c.-74 others(27): Show |
CHKB | ENSG00000100288.20 | transcript | ENST00000406938.3 | protein_coding | 1/11 | 55 | chr22 | TogoVar | |||||
| CHL1_chr3_191763_414417 | 314323 | CTATGTGT others(13): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 290 | 0.0035 | -20 | c.-94 others(37): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CHL1_chr3_191763_414417 | 324605 | CTTTATTT others(13): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0008 | a0008c0007 | a0008c0007t0012 | a0008c0007t0012g0101 | 1 | 290 | 0.0035 | -20 | c.92- others(35): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CHMP4C_chr8_81727448_81764515 | 81736085 | CAATAAAT others(13): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0018 | a0001c0001t0005g0274a0001c0001t0009g0010a0001c0001t0018g0089 | 6 | 408 | 0.0147 | -20 | c.190 others(37): Show |
CHMP4C | ENSG00000164695.5 | transcript | ENST00000297265.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CHM_chrX_85856180_86052558 | 85913332 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0219 | 1 | 245 | 0.0041 | -20 | c.116 others(39): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| CHM_chrX_85856180_86052558 | 86026102 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01256.hp1 HG01975.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0123a0001c0001t0001g0239a0001c0001t0001g0240others(13): Show | 16 | 245 | 0.0653 | -20 | c.116 others(37): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
| CHN1_chr2_174793809_175010381 | 174807446 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0015 | a0001c0001t0006g0031a0001c0001t0006g0034a0001c0001t0011g0054others(1): Show | 4 | 276 | 0.0145 | -20 | c.110 others(39): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
| CHN1_chr2_174793809_175010381 | 174915868 | AAAGCCAC others(13): Show |
A | intron_variant | MODIFIER | HG02071.hp1 NA18947.hp2 NA18948.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0001t0001g0096others(2): Show | 5 | 276 | 0.0181 | -20 | c.147 others(35): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
| CHN2_chr7_29189775_29519328 | 29374801 | TTTCCTTC others(13): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0125 | 1 | 232 | 0.0043 | -20 | c.144 others(37): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHN2_chr7_29189775_29519328 | 29405164 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02818.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0029a0001c0001t0003g0204a0001c0001t0006g0153others(11): Show | 14 | 232 | 0.0603 | -20 | c.576 others(37): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHN2_chr7_29189775_29519328 | 29482797 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02135.hp2 HG02622.hp1 NA19012.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0005 | a0001c0001t0001g0126a0001c0001t0003g0097a0001c0005t0005g0151 | 3 | 232 | 0.0129 | -20 | c.654 others(37): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHP2_chr16_23750026_23763935 | 23750869 | TTTTCTTT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG01358.hp1 HG01934.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0011 | 4 | 392 | 0.0102 | -20 | c.-41 others(31): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4156 | chr16 | TogoVar | ||||||
| CHP2_chr16_23750026_23763935 | 23750921 | CTTTCTTT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 392 | 0.0026 | -20 | c.-41 others(31): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4104 | chr16 | TogoVar | ||||||
| CHPF_chr2_219533954_219548809 | 219534764 | GCCATCCA others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(196): Show |
a0001a0008a0009others(1): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(17): Show | 199 | 396 | 0.5025 | -20 | c.*45 others(31): Show |
CHPF | ENSG00000123989.15 | transcript | ENST00000243776.11 | protein_coding | 4189 | chr2 | TogoVar | ||||||
| CHRDL1_chrX_110668856_110800817 | 110669060 | ATATATAT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG01258.hp1 HG02145.hp1 HG02486.hp1 others(4): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(3): Show | a0001c0002t0003g0037a0001c0002t0004g0151a0001c0002t0006g0040others(4): Show | 7 | 172 | 0.0407 | -20 | c.*71 others(31): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4795 | chrX | TogoVar | ||||||
| CHRDL1_chrX_110668856_110800817 | 110689691 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0170 | 1 | 172 | 0.0058 | -20 | c.779 others(35): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
| CHRDL1_chrX_110668856_110800817 | 110697814 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03139.hp1 |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0011a0004c0005t0050 | a0001c0002t0011g0055a0004c0005t0050g0072 | 2 | 172 | 0.0116 | -20 | c.609 others(37): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 7/11 | chrX | TogoVar | ||||||
| CHRDL1_chrX_110668856_110800817 | 110767598 | CAATAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0001t0012g0131a0001c0002t0003g0022a0001c0002t0003g0029others(2): Show | 5 | 172 | 0.0291 | -20 | c.95- others(35): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 2/11 | chrX | TogoVar | ||||||
| CHRDL2_chr11_74691429_74736426 | 74698676 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01069.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0002t0001g0221a0001c0003t0001g0067a0001c0003t0001g0068others(9): Show | 13 | 392 | 0.0332 | -20 | c.112 others(39): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 9/10 | chr11 | TogoVar | ||||||
| CHRFAM7A_chr15_30355566_30398540 | 30393723 | AACCCGGC others(13): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0058 | 1 | 133 | 0.0075 | -20 | c.-64 others(29): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 184 | chr15 | TogoVar | ||||||
| CHRM2_chr7_136863652_137025213 | 136938915 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0047 | 1 | 320 | 0.0031 | -20 | c.-12 others(41): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHRM2_chr7_136863652_137025213 | 137003473 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01099.hp1 HG01884.hp1 others(24): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(13): Show | a0001c0001t0002g0051a0001c0001t0002g0154a0001c0001t0003g0230others(24): Show | 27 | 320 | 0.0844 | -20 | c.-47 others(39): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239383401 | TTCTTTCT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG01256.hp1 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017 | a0001c0001t0007g0068a0001c0001t0017g0004 | 2 | 116 | 0.0172 | -20 | c.-43 others(31): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3166 | chr1 | TogoVar | ||||||
| CHRM3_chr1_239381568_239920450 | 239404394 | AAGAAAGA others(13): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0001 | 1 | 116 | 0.0086 | -20 | c.-52 others(41): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239404396 | GAAAGAAA others(13): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0018 | 1 | 116 | 0.0086 | -20 | c.-52 others(41): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239404398 | AAGAAAGA others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0051 | a0001c0001t0001g0052a0001c0001t0051g0034 | 2 | 116 | 0.0172 | -20 | c.-52 others(41): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239404410 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0025 | 1 | 116 | 0.0086 | -20 | c.-52 others(41): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239531639 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0020 | 1 | 116 | 0.0086 | -20 | c.-42 others(41): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239759178 | TTTTGTTT others(13): Show |
T | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0088 | 1 | 116 | 0.0086 | -20 | c.-14 others(41): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
| CHRM3_chr1_239381568_239920450 | 239826451 | CAGTGCAT others(13): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0080 | 1 | 116 | 0.0086 | -20 | c.-14 others(37): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239874285 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0116 | 1 | 116 | 0.0086 | -20 | c.-19 others(39): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM5_chr15_33963497_34072458 | 34038609 | CCGCCACC others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(127): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0082others(126): Show | 130 | 338 | 0.3846 | -20 | c.-40 others(39): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CHRNA1_chr2_174742592_174769472 | 174768032 | TTTACATG others(13): Show |
T | upstream_gene_variant | MODIFIER | NA18976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 370 | 0.0027 | -20 | c.-36 others(31): Show |
CHRNA1 | ENSG00000138435.16 | transcript | ENST00000348749.9 | protein_coding | 3561 | chr2 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63366149 | GGTGCTCC others(13): Show |
G | upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 168 | 0.0060 | -20 | c.-50 others(31): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4801 | chr20 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63366189 | GGTGCTCC others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0066a0001c0001t0003g0110a0001c0002t0001g0001others(33): Show | 43 | 168 | 0.2560 | -20 | c.-50 others(31): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4841 | chr20 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63366229 | AGTGCTCC others(13): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01258.hp1 others(18): Show |
a0000a0001 | a0000c0017a0001c0001a0001c0003others(2): Show | a0000c0017t0007a0001c0001t0003a0001c0001t0006others(6): Show | a0000c0017t0007g0104a0001c0001t0003g0132a0001c0001t0006g0051others(16): Show | 21 | 168 | 0.1250 | -20 | c.-50 others(31): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4881 | chr20 | TogoVar | ||||||
| CHRNB1_chr17_7440061_7462710 | 7446307 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 368 | 0.0027 | -20 | c.243 others(35): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CHRNB3_chr8_42692366_42742407 | 42726509 | TAGCTCTG others(13): Show |
T | intron_variant | MODIFIER | HG02615.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0023 | 2 | 282 | 0.0071 | -20 | c.250 others(37): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CHRNE_chr17_4892771_4908098 | 4898960 | GGCCTCTG others(13): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(118): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0052a0001c0001t0001g0053others(25): Show | 121 | 446 | 0.2713 | -20 | c.132 others(35): Show |
CHRNE | ENSG00000108556.10 | transcript | ENST00000649488.2 | protein_coding | 11/11 | chr17 | TogoVar | ||||||
| CHST11_chr12_104451948_104767014 | 104610043 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0037a0001c0001t0002g0149a0001c0001t0003g0030others(2): Show | 5 | 240 | 0.0208 | -20 | c.204 others(37): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CHST12_chr7_2398611_2453484 | 2452497 | CCCCTGCC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0124 | 1 | 344 | 0.0029 | -20 | c.*18 others(33): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4014 | chr7 | TogoVar | ||||||
| CHST12_chr7_2398611_2453484 | 2452537 | GCCCTGCC others(13): Show |
G | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0224 | 1 | 344 | 0.0029 | -20 | c.*18 others(33): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4054 | chr7 | TogoVar | ||||||
| CHST12_chr7_2398611_2453484 | 2452542 | GCCCTGCC others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG02809.hp2 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0252a0001c0001t0265a0001c0001t0280others(3): Show | a0001c0001t0252g0042a0001c0001t0265g0310a0001c0001t0280g0057others(3): Show | 6 | 344 | 0.0174 | -20 | c.*18 others(33): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4059 | chr7 | TogoVar | ||||||
| CHST12_chr7_2398611_2453484 | 2452547 | GCCCTGCC others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01243.hp1 HG01255.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0019a0001c0001t0112a0001c0001t0121others(6): Show | a0001c0001t0019g0237a0001c0001t0112g0126a0001c0001t0121g0193others(6): Show | 9 | 344 | 0.0262 | -20 | c.*18 others(33): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4064 | chr7 | TogoVar |