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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHMP6_chr17_80986841_81005133 | 81004180 | T | TGCCCA | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02976.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 a0001c0001t0003g0090 |
3 | 427 | 0.0070 | 5 | c.*50 others(16): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 4048 | chr17 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85897086 | A | ATATAT | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(25): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0008others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0004g0224 a0001c0001t0005g0206 a0001c0001t0005g0208 others(25): Show |
28 | 239 | 0.1172 | 5 | c.141 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 11/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAAAG | intron_variant | MODIFIER | HG00280.hp1 HG01255.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0093 a0001c0001t0001g0122 a0001c0001t0001g0239 others(3): Show |
6 | 50 | 0.1200 | 5 | c.116 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85950336 | T | TGAATA | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00735.hp2 others(43): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 others(43): Show |
46 | 243 | 0.1893 | 5 | c.116 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85973300 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01257.hp2 HG01258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0085 a0001c0001t0001g0088 others(13): Show |
16 | 95 | 0.1684 | 5 | c.314 others(22): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 86026102 | C | CTTTTT | intron_variant | MODIFIER | HG03492.hp1 HG03688.hp1 HG03831.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | 20 | 0.3500 | 5 | c.116 others(22): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 86027275 | C | CAAAGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(166): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0044 a0001c0001t0001g0075 a0001c0001t0001g0076 others(166): Show |
169 | 241 | 0.7012 | 5 | c.116 others(20): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174940016 | C | CTTTTA | intron_variant | MODIFIER | HG02559.hp2 HG03471.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 |
3 | 274 | 0.0109 | 5 | c.114 others(22): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174979880 | A | AAAAAC | intron_variant | MODIFIER | HG02559.hp2 HG03471.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 |
3 | 274 | 0.0109 | 5 | c.19+ others(22): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29280383 | C | CAATAA | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0009 a0001c0001t0001g0143 a0001c0001t0001g0222 others(43): Show |
46 | 73 | 0.6301 | 5 | c.50- others(22): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29351107 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00673.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0017 others(14): Show |
17 | 173 | 0.0983 | 5 | c.50- others(20): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29473470 | G | GTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00673.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0117 others(17): Show |
20 | 157 | 0.1274 | 5 | c.577 others(22): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29473482 | T | TTTTTG | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0075 others(18): Show |
21 | 145 | 0.1448 | 5 | c.577 others(22): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29499602 | C | CAATTA | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02818.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0111 a0001c0002t0001g0084 a0001c0002t0002g0128 others(6): Show |
9 | 230 | 0.0391 | 5 | c.740 others(20): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHORDC1_chr11_90195429_90228049 | 90200205 | G | GTTGTA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(252): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0022 others(120): Show |
255 | 410 | 0.6220 | 5 | c.*21 others(16): Show |
CHORDC1 | ENSG00000110172.12 | transcript | ENST00000320585.11 | protein_coding | 223 | chr11 | TogoVar | |||||||
CHORDC1_chr11_90195429_90228049 | 90207761 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0063 others(27): Show |
57 | 71 | 0.8028 | 5 | c.493 others(22): Show |
CHORDC1 | ENSG00000110172.12 | transcript | ENST00000320585.11 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
CHP1_chr15_41226268_41286887 | 41277791 | G | GAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0034 | a0001c0001t0001g0026 a0001c0001t0001g0289 a0001c0001t0012g0162 others(3): Show |
6 | 171 | 0.0351 | 5 | c.412 others(20): Show |
CHP1 | ENSG00000187446.12 | transcript | ENST00000334660.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHPT1_chr12_101692640_101734074 | 101692668 | T | TAATTC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(167): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0037 others(90): Show |
170 | 399 | 0.4261 | 5 | c.-51 others(16): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 4971 | chr12 | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110767598 | C | CAATAA | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0001t0036a0001c0002t0003others(1): Show | a0001c0001t0027g0005 a0001c0001t0036g0168 a0001c0002t0003g0037 others(4): Show |
7 | 42 | 0.1667 | 5 | c.95- others(20): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 2/11 | chrX | TogoVar | |||||||
CHRDL2_chr11_74691429_74736426 | 74717112 | A | ACAAAC | intron_variant | MODIFIER | HG01433.hp1 NA18980.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0194 a0001c0001t0002g0289 a0001c0001t0002g0300 |
3 | 389 | 0.0077 | 5 | c.195 others(22): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 2/10 | chr11 | TogoVar | |||||||
CHRD_chr3_184375054_184394829 | 184390191 | T | TCCCTC | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01069.hp1 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0010a0002c0012others(2): Show | a0001c0001t0001a0002c0010t0001a0002c0012t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0040 others(10): Show |
21 | 260 | 0.0808 | 5 | c.*76 others(14): Show |
CHRD | ENSG00000090539.16 | transcript | ENST00000204604.6 | protein_coding | 363 | chr3 | TogoVar | |||||||
CHRD_chr3_184375054_184394829 | 184393700 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02258.hp2 others(13): Show |
a0002a0003a0015 | a0002c0009a0003c0005a0015c0035 | a0002c0009t0001a0003c0005t0001a0015c0035t0001 | a0002c0009t0001g0022 a0002c0009t0001g0128 a0003c0005t0001g0029 others(6): Show |
16 | 426 | 0.0376 | 5 | c.*42 others(16): Show |
CHRD | ENSG00000090539.16 | transcript | ENST00000204604.6 | protein_coding | 3872 | chr3 | TogoVar | |||||||
CHRFAM7A_chr15_30355566_30398540 | 30364222 | C | CATCTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(119): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0018others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(42): Show | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 others(115): Show |
122 | 132 | 0.9242 | 5 | c.721 others(22): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 9/9 | chr15 | TogoVar | |||||||
CHRFAM7A_chr15_30355566_30398540 | 30365801 | C | CTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG01256.hp1 HG01258.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0002 a0004c0004t0003g0031 a0004c0004t0003g0032 others(2): Show |
6 | 8 | 0.7500 | 5 | c.720 others(22): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 9/9 | chr15 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867861 | T | TTCTGG | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01123.hp1 others(26): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0002g0091 a0001c0001t0004g0076 a0001c0001t0004g0077 others(26): Show |
29 | 317 | 0.0915 | 5 | c.-14 others(16): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 790 | chr7 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239408521 | C | CAAAAA | intron_variant | MODIFIER | HG02083.hp2 HG02735.hp2 HG03927.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023a0001c0001t0028others(2): Show | a0001c0001t0001g0008 a0001c0001t0023g0007 a0001c0001t0028g0017 others(2): Show |
5 | 60 | 0.0833 | 5 | c.-52 others(26): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239411720 | C | CAAAAA | intron_variant | MODIFIER | HG01261.hp1 HG01346.hp2 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0052 a0001c0001t0003g0047 a0001c0001t0008g0072 others(1): Show |
4 | 16 | 0.2500 | 5 | c.-52 others(26): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239519741 | C | CTTTTT | intron_variant | MODIFIER | HG01981.hp2 HG02735.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0018a0001c0001t0038others(1): Show | a0001c0001t0014g0033 a0001c0001t0018g0022 a0001c0001t0038g0032 others(1): Show |
4 | 47 | 0.0851 | 5 | c.-42 others(26): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239597858 | G | GTTTTT | intron_variant | MODIFIER | HG02615.hp2 HG02738.hp1 HG02818.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0001g0098 a0001c0001t0004g0036 a0001c0001t0009g0045 others(5): Show |
8 | 40 | 0.2000 | 5 | c.-31 others(26): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239690063 | A | AGAGAG | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00609.hp1 others(73): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0054 others(73): Show |
76 | 113 | 0.6726 | 5 | c.-14 others(26): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239881282 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00639.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0052 others(19): Show |
22 | 23 | 0.9565 | 5 | c.-19 others(24): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 33966655 | A | AAGATG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01070.hp2 others(90): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(21): Show | a0001c0001t0001g0280 a0001c0001t0003g0012 a0001c0001t0003g0013 others(90): Show |
93 | 336 | 0.2768 | 5 | c.-29 others(16): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1841 | chr15 | TogoVar | |||||||
CHRM5_chr15_33963497_34072458 | 33966664 | T | TGAGAC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(228): Show |
241 | 336 | 0.7173 | 5 | c.-28 others(16): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1832 | chr15 | TogoVar | |||||||
CHRM5_chr15_33963497_34072458 | 33968099 | T | TAAAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01070.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 others(20): Show |
25 | 46 | 0.5435 | 5 | c.-14 others(16): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 397 | chr15 | TogoVar | |||||||
CHRM5_chr15_33963497_34072458 | 34001715 | C | CAAGCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(311): Show |
324 | 336 | 0.9643 | 5 | c.-40 others(26): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
CHRM5_chr15_33963497_34072458 | 34017484 | G | GTTTTT | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp2 HG02572.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0256 a0001c0001t0003g0288 a0001c0001t0003g0290 others(4): Show |
7 | 108 | 0.0648 | 5 | c.-40 others(26): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 34031168 | A | ATTTTT | intron_variant | MODIFIER | HG01978.hp2 HG02129.hp2 HG02970.hp1 others(6): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0001g0081 a0001c0001t0001g0127 a0001c0001t0001g0168 others(6): Show |
9 | 13 | 0.6923 | 5 | c.-40 others(26): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 34053319 | A | ATATAT | intron_variant | MODIFIER | HG00408.hp2 HG02451.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0031 | a0001c0001t0002g0092 a0001c0001t0002g0145 a0001c0001t0002g0226 others(6): Show |
9 | 140 | 0.0643 | 5 | c.-76 others(22): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
CHRNA10_chr11_3660587_3676384 | 3661490 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00735.hp2 HG04184.hp2 NA18944.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(1): Show |
6 | 155 | 0.0387 | 5 | c.*46 others(16): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 4096 | chr11 | TogoVar | |||||||
CHRNA10_chr11_3660587_3676384 | 3663033 | A | ATCATC | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00642.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show |
27 | 391 | 0.0691 | 5 | c.*30 others(16): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2553 | chr11 | TogoVar | |||||||
CHRNA10_chr11_3660587_3676384 | 3663089 | A | ATCATC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(116): Show |
a0001a0010a0012 | a0001c0001a0001c0009a0001c0020others(2): Show | a0001c0001t0001a0001c0009t0001a0001c0020t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(17): Show |
119 | 331 | 0.3595 | 5 | c.*30 others(16): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2497 | chr11 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78616367 | C | CCGCCA | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG02056.hp2 others(28): Show |
a0001 | a0001c0003a0001c0018 | a0001c0003t0003a0001c0003t0023a0001c0003t0025others(1): Show | a0001c0003t0003g0053 a0001c0003t0003g0240 a0001c0003t0003g0241 others(27): Show |
31 | 387 | 0.0801 | 5 | c.377 others(20): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78570424 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01358.hp2 HG02071.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0005g0034 a0001c0001t0007g0064 a0001c0001t0007g0068 others(9): Show |
13 | 101 | 0.1287 | 5 | c.106 others(22): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78580279 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00733.hp1 others(89): Show |
a0001a0005a0007 | a0001c0001a0001c0007a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 others(75): Show |
92 | 195 | 0.4718 | 5 | c.107 others(20): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA6_chr8_42747620_42773786 | 42749292 | A | ATAATT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(145): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 others(71): Show |
148 | 348 | 0.4253 | 5 | c.*38 others(16): Show |
CHRNA6 | ENSG00000147434.9 | transcript | ENST00000276410.7 | protein_coding | 3327 | chr8 | TogoVar | |||||||
CHRNA7_chr15_32025515_32178018 | 32120417 | G | GTTTTC | intron_variant | MODIFIER | HG02486.hp2 HG02735.hp2 HG03195.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0013 | a0001c0001t0001a0001c0001t0041a0001c0004t0025others(1): Show | a0001c0001t0001g0083 a0001c0001t0041g0279 a0001c0004t0025g0190 others(1): Show |
4 | 297 | 0.0135 | 5 | c.350 others(22): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32138731 | A | ATGTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(107): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(37): Show | a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0083 others(106): Show |
110 | 153 | 0.7190 | 5 | c.351 others(24): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA9_chr4_40330333_40360217 | 40339662 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp1 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0004a0003c0011others(4): Show | a0001c0002t0001a0001c0004t0002a0003c0011t0006others(4): Show | a0001c0002t0001g0092 a0001c0004t0002g0084 a0001c0004t0002g0085 others(6): Show |
11 | 128 | 0.0859 | 5 | c.365 others(22): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CHRNB1_chr17_7440061_7462710 | 7442500 | A | AGGTAC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00733.hp1 others(80): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0027 others(66): Show |
83 | 366 | 0.2268 | 5 | c.-26 others(16): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 2560 | chr17 | TogoVar | |||||||
CHRNB3_chr8_42692366_42742407 | 42714483 | T | TCAAAA | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0127 a0002c0002t0004g0128 a0002c0002t0004g0129 others(1): Show |
4 | 279 | 0.0143 | 5 | c.249 others(22): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |