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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERT1_chr5_75372775_75516629 | 75474818 | GGAGTCTA others(29): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(240): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0031 a0001c0001t0001g0308 a0001c0001t0001g0309 others(238): Show |
243 | 334 | 0.7275 | -36 | c.232 others(55): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
CETN1_chr18_575380_587114 | 579661 | TCTTGATT others(29): Show |
T | upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0000 | 1 | 420 | 0.0024 | -36 | c.-74 others(45): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 718 | chr18 | TogoVar | |||||||
CETP_chr16_56956950_56988845 | 56959938 | GGAAAGAA others(29): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(120): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0002others(10): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0038 others(85): Show |
123 | 267 | 0.4607 | -36 | c.-20 others(47): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2011 | chr16 | TogoVar | |||||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(29): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 3 | 31 | 0.0968 | -36 | c.74+ others(51): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
CFAP144_chr1_43142904_43161396 | 43154379 | TACATATA others(29): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(147): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(32): Show |
150 | 394 | 0.3807 | -36 | c.297 others(53): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146831 | AATATATA others(29): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02155.hp2 NA18747.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0103 a0001c0001t0001g0139 |
8 | 36 | 0.2222 | -36 | c.637 others(52): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653032 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG03195.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 387 | 0.0052 | -36 | c.959 others(53): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119552653 | ATTTCTTT others(29): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0106 | 1 | 224 | 0.0045 | -36 | c.240 others(53): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121998432 | AATATATA others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(109): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0006a0002c0001others(3): Show | a0001c0004t0001a0001c0006t0001a0002c0001t0001others(3): Show | a0001c0004t0001g0121 a0001c0006t0001g0339 a0002c0001t0001g0002 others(108): Show |
112 | 118 | 0.9492 | -36 | c.300 others(55): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80782576 | GAATATAT others(29): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0084 | 1 | 96 | 0.0104 | -36 | c.334 others(55): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80782612 | TAATATAT others(29): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0039 others(28): Show |
31 | 75 | 0.4133 | -36 | c.334 others(55): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80782707 | AATATACA others(29): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0002a0002c0006t0001 | a0001c0003t0002g0092 a0002c0006t0001g0088 |
2 | 96 | 0.0208 | -36 | c.334 others(55): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80799111 | GTAAATAT others(29): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG02040.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(8): Show |
11 | 89 | 0.1236 | -36 | c.334 others(55): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132887205 | CTTTCCTC others(29): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(2): Show |
a0005a0012a0055 | a0005c0013a0012c0076a0055c0075 | a0005c0013t0001a0012c0076t0001a0055c0075t0001 | a0005c0013t0001g0140 a0005c0013t0001g0151 a0005c0013t0001g0152 others(2): Show |
5 | 244 | 0.0205 | -36 | c.330 others(55): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132895943 | ATGAGACA others(29): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(59): Show |
a0002a0003a0004others(12): Show | a0002c0002a0002c0003a0002c0023others(19): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(20): Show | a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(59): Show |
62 | 244 | 0.2541 | -36 | c.321 others(55): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132896183 | ATGAGACA others(29): Show |
A | intron_variant | MODIFIER | HG02615.hp2 NA18522.hp1 |
a0025a0050 | a0025c0042a0050c0071 | a0025c0042t0001a0050c0071t0002 | a0025c0042t0001g0141 a0050c0071t0002g0003 |
2 | 244 | 0.0082 | -36 | c.321 others(55): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132917958 | CTCTCCAC others(29): Show |
C | intron_variant | MODIFIER | HG04228.hp1 NA19060.hp2 |
a0063a0071 | a0063c0067a0071c0068 | a0063c0067t0002a0071c0068t0002 | a0063c0067t0002g0013 a0071c0068t0002g0012 |
2 | 244 | 0.0082 | -36 | c.198 others(53): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 16/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132927297 | ACGTCCCG others(29): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01123.hp1 others(4): Show |
a0007a0020a0032others(3): Show | a0007c0083a0020c0024a0032c0106others(3): Show | a0007c0083t0002a0020c0024t0001a0032c0106t0002others(3): Show | a0007c0083t0002g0086 a0020c0024t0001g0215 a0020c0024t0001g0216 others(4): Show |
7 | 234 | 0.0299 | -36 | c.967 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 9/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132935309 | CGATCTTC others(29): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0063 | a0063c0067 | a0063c0067t0002 | a0063c0067t0002g0013 | 1 | 236 | 0.0042 | -36 | c.756 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 7/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132935919 | TGATCTCC others(29): Show |
T | intron_variant | MODIFIER | HG02165.hp2 | a0046 | a0046c0091 | a0046c0091t0002 | a0046c0091t0002g0047 | 1 | 238 | 0.0042 | -36 | c.755 others(53): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 7/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132936545 | AGCCCCCA others(29): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0055 | a0055c0075 | a0055c0075t0001 | a0055c0075t0001g0235 | 1 | 243 | 0.0041 | -36 | c.755 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 7/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132936616 | TGGCATCC others(29): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01169.hp1 HG02145.hp1 others(3): Show |
a0021a0032a0045others(2): Show | a0021c0033a0032c0106a0045c0107others(2): Show | a0021c0033t0001a0021c0033t0004a0032c0106t0002others(3): Show | a0021c0033t0001g0237 a0021c0033t0004g0238 a0032c0106t0002g0102 others(3): Show |
6 | 244 | 0.0246 | -36 | c.755 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 7/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35923913 | ATATATGT others(29): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03195.hp2 HG03579.hp1 others(1): Show |
a0005a0012 | a0005c0015a0012c0010 | a0005c0015t0001a0012c0010t0001 | a0005c0015t0001g0131 a0012c0010t0001g0129 a0012c0010t0001g0130 others(1): Show |
4 | 214 | 0.0187 | -36 | c.250 others(53): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36191766 | CTGAGGTC others(29): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 |
a0020 | a0020c0021 | a0020c0021t0001 | a0020c0021t0001g0214 a0020c0021t0001g0215 |
2 | 214 | 0.0093 | -36 | c.632 others(55): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 42/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96664735 | ATATCTAT others(29): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0060 | a0060c0061 | a0060c0061t0001 | a0060c0061t0001g0039 | 1 | 244 | 0.0041 | -36 | c.556 others(53): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96827633 | ATGTGTAA others(29): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0032 | a0032c0060 | a0032c0060t0001 | a0032c0060t0001g0005 | 1 | 172 | 0.0058 | -36 | c.909 others(55): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104396369 | TGAGAGAG others(29): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG00735.hp2 others(25): Show |
a0001a0006a0007 | a0001c0001a0001c0003a0006c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0028 others(25): Show |
28 | 74 | 0.3784 | -36 | c.167 others(55): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356554 | GGGGAGGT others(29): Show |
G | intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0017 | 1 | 234 | 0.0043 | -36 | c.351 others(55): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20356708 | GGGGAGGT others(29): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0202 | 1 | 233 | 0.0043 | -36 | c.351 others(55): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73284737 | CACATATA others(29): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0022 | 1 | 148 | 0.0068 | -36 | c.245 others(55): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73284739 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0029 | 1 | 85 | 0.0118 | -36 | c.245 others(55): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132486030 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp2 HG01891.hp1 others(16): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0089 a0001c0001t0001g0131 a0001c0001t0001g0133 others(16): Show |
19 | 312 | 0.0609 | -36 | c.196 others(55): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843557 | CCTTCTTC others(29): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0370 | 1 | 232 | 0.0043 | -36 | c.153 others(51): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692746 | TTTTCTTT others(29): Show |
T | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 80 | 0.0125 | -36 | c.133 others(55): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CGN_chr1_151506387_151543692 | 151539954 | GAAGGAAG others(29): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG01081.hp2 others(22): Show |
a0001a0011a0018others(2): Show | a0001c0001a0011c0012a0018c0027others(2): Show | a0001c0001t0001a0001c0001t0013a0011c0012t0005others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0021 others(10): Show |
25 | 380 | 0.0658 | -36 | c.*26 others(47): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 1263 | chr1 | TogoVar | |||||||
CHAMP1_chr13_114309503_114332322 | 114328141 | GCCTGGTG others(29): Show |
G | downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0003 | 1 | 412 | 0.0024 | -36 | c.*18 others(47): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 820 | chr13 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126863326 | TCCTCCTC others(29): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 213 | 0.0047 | -36 | c.495 others(55): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5926064 | AAAAAATA others(29): Show |
A | downstream_gene_variant | MODIFIER | NA18948.hp1 NA18950.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0006 a0003c0003t0002g0120 |
2 | 378 | 0.0053 | -36 | c.*10 others(47): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 712 | chr20 | TogoVar | |||||||
CHIA_chr1_111285851_111325563 | 111320533 | AAGTCCTG others(29): Show |
A | splice_region_variant | LOW | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0048 | 1 | 424 | 0.0024 | -36 | c.*68 others(44): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 12/12 | chr1 | TogoVar | |||||||
CHMP2B_chr3_87222309_87260556 | 87258662 | GAGACTGG others(29): Show |
G | downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0135 | 1 | 412 | 0.0024 | -36 | c.*48 others(47): Show |
CHMP2B | ENSG00000083937.10 | transcript | ENST00000263780.9 | protein_coding | 3107 | chr3 | TogoVar | |||||||
CHMP3_chr2_86498430_86568443 | 86548890 | AGCCGGGC others(29): Show |
A | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 334 | 0.0030 | -36 | c.46- others(51): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHODL_chr21_18239833_18272370 | 18254259 | CAGGAATA others(29): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0019others(1): Show | a0001c0001t0005g0048 a0001c0001t0005g0283 a0001c0001t0005g0286 others(4): Show |
8 | 400 | 0.0200 | -36 | c.80- others(51): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110669052 | TTATATAT others(29): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0004 | a0004c0005 | a0004c0005t0040 | a0004c0005t0040g0072 | 1 | 164 | 0.0061 | -36 | c.*71 others(47): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4803 | chrX | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 137003473 | TACACACA others(29): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 76 | 0.0132 | -36 | c.-47 others(55): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239404388 | GAAAGAAA others(29): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053 | 1 | 112 | 0.0089 | -36 | c.-52 others(57): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239404400 | GAAAGAAA others(29): Show |
G | intron_variant | MODIFIER | HG03098.hp1 HG06807.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0042 | a0001c0001t0003g0092 a0001c0001t0021g0093 a0001c0001t0042g0080 |
3 | 109 | 0.0275 | -36 | c.-52 others(57): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239404406 | AAGAAAAA others(29): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 107 | 0.0093 | -36 | c.-52 others(57): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239688682 | GCAATATA others(29): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0090 | 1 | 114 | 0.0088 | -36 | c.-14 others(57): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63358935 | CCTGGTTC others(29): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 166 | 0.0060 | -36 | c.228 others(51): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361321 | GGCGCGGC others(29): Show |
G | 5_prime_UTR_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0006 | a0002c0006t0014 | a0002c0006t0014g0139 | 1 | 166 | 0.0060 | -36 | c.-19 others(45): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 1/6 | 157 | chr20 | TogoVar |