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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPK_chr5_65512766_65568168 | 65527498 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0241a0001c0001t0004g0245 | 2 | 374 | 0.0054 | -40 | c.597 others(55): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65937302 | GCCCGGCC others(33): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02145.hp2 others(7): Show |
a0002 | a0002c0001a0002c0007a0002c0008 | a0002c0001t0001a0002c0007t0001a0002c0008t0001 | a0002c0001t0001g0027a0002c0001t0001g0043a0002c0001t0001g0045others(7): Show | 10 | 112 | 0.0893 | -40 | c.187 others(59): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656273 | TTTTATTT others(33): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03098.hp2 HG03195.hp1 others(1): Show |
a0002a0004a0011 | a0002c0002a0004c0004a0011c0018 | a0002c0002t0004a0002c0002t0010a0004c0004t0014others(1): Show | a0002c0002t0004g0067a0002c0002t0010g0010a0004c0004t0014g0069others(1): Show | 4 | 164 | 0.0244 | -40 | c.280 others(61): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656275 | TTATTTAT others(33): Show |
T | intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0081 | 1 | 164 | 0.0061 | -40 | c.280 others(61): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81227790 | TGTGATAG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0044 | a0044c0067 | a0044c0067t0001 | a0044c0067t0001g0127 | 1 | 384 | 0.0026 | -40 | c.-50 others(51): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 4826 | chr17 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243257481 | AAAATAAT others(33): Show |
A | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 303 | 0.0033 | -40 | c.-25 others(51): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 2201 | chr1 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13098406 | GCTCCTCA others(33): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(43): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0004 | a0004c0004t0001g0001a0004c0004t0001g0002a0004c0004t0001g0005others(33): Show | 46 | 392 | 0.1174 | -40 | c.655 others(59): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 36/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP72_chr5_607340_658553 | 633036 | GCCGGGAT others(33): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | 91 | 0.1978 | -40 | c.513 others(55): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP97_chr3_101719614_101775562 | 101763875 | ACATTATT others(33): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(111): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0005others(93): Show | 114 | 352 | 0.3239 | -40 | c.189 others(57): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEPT1_chr1_111135223_111190104 | 111154187 | GTATTTTA others(33): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 410 | 0.0024 | -40 | c.340 others(57): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CETP_chr16_56956950_56988845 | 56959938 | GGAAAGAA others(33): Show |
G | upstream_gene_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135 | 1 | 462 | 0.0022 | -40 | c.-20 others(51): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2011 | chr16 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126401397 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG06807.hp2 |
a0001a0014 | a0001c0001a0014c0020 | a0001c0001t0001a0014c0020t0001 | a0001c0001t0001g0209a0014c0020t0001g0078 | 2 | 422 | 0.0047 | -40 | c.49+ others(55): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 372 | 0.0027 | -40 | c.74+ others(55): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132820513 | AGTGCTGA others(33): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0051 | a0051c0105 | a0051c0105t0001 | a0051c0105t0001g0239 | 1 | 246 | 0.0041 | -40 | c.711 others(59): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132881600 | AGGGTTAG others(33): Show |
A | intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0045 | a0002c0045t0001 | a0002c0045t0001g0200 | 1 | 246 | 0.0041 | -40 | c.362 others(57): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 27/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132881656 | GCACCCTC others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(76): Show |
a0002a0003a0004others(18): Show | a0002c0002a0002c0003a0002c0023others(27): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(29): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0159others(75): Show | 79 | 246 | 0.3211 | -40 | c.362 others(57): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 27/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132887182 | TTCTCTCT others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(6): Show |
a0011a0019a0035others(2): Show | a0011c0010a0019c0020a0035c0057others(2): Show | a0011c0010t0001a0019c0020t0001a0035c0057t0001others(2): Show | a0011c0010t0001g0197a0011c0010t0001g0198a0011c0010t0001g0202others(6): Show | 9 | 246 | 0.0366 | -40 | c.330 others(59): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923884 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0190 | 1 | 216 | 0.0046 | -40 | c.250 others(57): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35923891 | ATGTGTAT others(33): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0011 | a0011c0030 | a0011c0030t0001 | a0011c0030t0001g0185 | 1 | 216 | 0.0046 | -40 | c.250 others(57): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35923917 | ATGTACAT others(33): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(40): Show |
a0001a0002a0008others(13): Show | a0001c0071a0002c0002a0002c0013others(17): Show | a0001c0071t0001a0002c0002t0001a0002c0013t0001others(17): Show | a0001c0071t0001g0149a0002c0002t0001g0150a0002c0002t0001g0151others(40): Show | 43 | 216 | 0.1991 | -40 | c.250 others(57): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96512299 | TTTTATAT others(33): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(53): Show |
a0002a0003a0004others(11): Show | a0002c0032a0003c0002a0003c0016others(18): Show | a0002c0032t0001a0003c0002t0001a0003c0002t0004others(19): Show | a0002c0032t0001g0222a0003c0002t0001g0210a0003c0002t0001g0211others(53): Show | 56 | 268 | 0.2090 | -40 | c.740 others(55): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96553488 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03209.hp1 NA18995.hp2 |
a0002 | a0002c0003a0002c0007 | a0002c0003t0001a0002c0007t0001 | a0002c0003t0001g0168a0002c0007t0001g0154 | 2 | 268 | 0.0075 | -40 | c.215 others(57): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96806159 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0002 | a0002c0091 | a0002c0091t0001 | a0002c0091t0001g0138 | 1 | 268 | 0.0037 | -40 | c.885 others(59): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104396369 | TGAGAGAG others(33): Show |
T | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 308 | 0.0033 | -40 | c.167 others(59): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104396400 | GAGAGAGA others(33): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0233 | 1 | 308 | 0.0033 | -40 | c.167 others(59): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20355395 | ATGGTCAC others(33): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00639.hp2 others(92): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0028a0001c0001t0001g0040a0001c0001t0001g0078others(92): Show | 95 | 236 | 0.4025 | -40 | c.351 others(59): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20356461 | GTGGTCAC others(33): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02922.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0078a0001c0003t0004g0004a0002c0002t0001g0136others(4): Show | 7 | 236 | 0.0297 | -40 | c.351 others(59): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP69_chr7_90240174_90316063 | 90290743 | GTCTTTTC others(33): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01123.hp1 others(3): Show |
a0001a0002a0007 | a0001c0019a0002c0001a0007c0009 | a0001c0019t0002a0002c0001t0001a0007c0009t0002 | a0001c0019t0002g0165a0002c0001t0001g0041a0002c0001t0001g0042others(3): Show | 6 | 338 | 0.0178 | -40 | c.177 others(59): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFAP70_chr10_73248762_73363864 | 73284737 | CACATATA others(33): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 220 | 0.0046 | -40 | c.245 others(59): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73284739 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02145.hp2 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0002a0003c0003t0002g0003a0003c0003t0002g0004others(8): Show | 11 | 220 | 0.0500 | -40 | c.245 others(59): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132486026 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01169.hp2 HG01192.hp2 others(12): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0007 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(2): Show | a0001c0002t0001g0287a0001c0002t0002g0306a0002c0003t0001g0008others(12): Show | 15 | 322 | 0.0466 | -40 | c.196 others(59): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97D2_chr13_114174257_114228085 | 114177377 | CTGTGGGT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG01993.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010a0001c0001t0006g0033a0001c0001t0006g0340others(9): Show | 15 | 400 | 0.0375 | -40 | c.-19 others(51): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 1879 | chr13 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692746 | TTTTCTTT others(33): Show |
T | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 308 | 0.0033 | -40 | c.133 others(59): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49647740 | TTTCCTTC others(33): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0284 | 1 | 418 | 0.0024 | -40 | c.128 others(57): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHD5_chr1_6096787_6185321 | 6155072 | CCCCAGCT others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(16): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(50): Show | a0001c0001t0003g0097a0001c0001t0007g0275a0001c0001t0008g0095others(104): Show | 109 | 320 | 0.3406 | -40 | c.507 others(55): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 4/41 | chr1 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21442718 | AGGGAGGA others(33): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218a0001c0001t0003g0242 | 2 | 260 | 0.0077 | -40 | c.-21 others(61): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21442738 | CGGGAGGA others(33): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0033a0001c0003t0002g0034 | 2 | 260 | 0.0077 | -40 | c.-21 others(61): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92929294 | ACCAGCCA others(33): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02071.hp2 HG02109.hp1 others(8): Show |
a0001a0027 | a0001c0001a0027c0033 | a0001c0001t0001a0001c0001t0004a0027c0033t0004 | a0001c0001t0001g0011a0001c0001t0001g0054a0001c0001t0001g0079others(5): Show | 11 | 447 | 0.0246 | -40 | c.257 others(55): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CHMP3_chr2_86498430_86568443 | 86545498 | TGGGGCGA others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(162): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0018others(150): Show | 165 | 336 | 0.4911 | -40 | c.46- others(55): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 80994856 | GCCCGGGC others(33): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 2 | 438 | 0.0046 | -40 | c.174 others(55): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CHM_chrX_85856180_86052558 | 86021134 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0140a0001c0001t0001g0151others(3): Show | 6 | 245 | 0.0245 | -40 | c.116 others(57): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110697814 | CCACACAC others(33): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0008a0001c0002t0012a0001c0002t0022others(2): Show | a0001c0002t0008g0010a0001c0002t0008g0014a0001c0002t0008g0111others(5): Show | 8 | 172 | 0.0465 | -40 | c.609 others(57): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 7/11 | chrX | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239383381 | TTCTTTCT others(33): Show |
T | upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0023 | 1 | 116 | 0.0086 | -40 | c.-43 others(51): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3186 | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239404402 | AAGAAAGA others(33): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0075 | 1 | 116 | 0.0086 | -40 | c.-52 others(61): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRNA4_chr20_63338223_63366349 | 63366189 | GGTGCTCC others(33): Show |
G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01255.hp2 HG04204.hp1 |
a0000a0001 | a0000c0006a0001c0001a0001c0002 | a0000c0006t0028a0001c0001t0019a0001c0002t0001 | a0000c0006t0028g0079a0001c0001t0019g0031a0001c0002t0001g0050 | 3 | 168 | 0.0179 | -40 | c.-50 others(51): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4841 | chr20 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42723065 | TAATAGGA others(33): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01175.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0007others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0054a0001c0001t0001g0055others(16): Show | 19 | 282 | 0.0674 | -40 | c.250 others(57): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRNB4_chr15_78619111_78646210 | 78632195 | TTCTTTCT others(33): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0005 | a0005c0008 | a0005c0008t0014 | a0005c0008t0014g0054 | 1 | 416 | 0.0024 | -40 | c.205 others(55): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2452522 | GCCCTGCC others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0206 | a0001c0001t0206g0233 | 1 | 344 | 0.0029 | -40 | c.*18 others(53): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4039 | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2452532 | GCCCTGCC others(33): Show |
G | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0301 | a0001c0001t0301g0260 | 1 | 344 | 0.0029 | -40 | c.*18 others(53): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4049 | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2452537 | GCCCTGCC others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01346.hp2 HG01515.hp1 others(6): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0063a0001c0001t0090a0001c0001t0100others(6): Show | a0001c0001t0063g0118a0001c0001t0090g0159a0001c0001t0100g0206others(6): Show | 9 | 344 | 0.0262 | -40 | c.*18 others(53): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4054 | chr7 | TogoVar |