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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP57L1_chr6_109090507_109179418 | 109142946 | GCTCTCTC others(25): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0077 | a0002c0002t0077g0210 | 1 | 13 | 0.0769 | -32 | c.-3- others(47): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14719557 | GCCTGCCT others(25): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(16): Show |
a0002 | a0002c0002a0002c0007a0002c0011 | a0002c0002t0001a0002c0007t0001a0002c0011t0001 | a0002c0002t0001g0002 a0002c0007t0001g0032 a0002c0011t0001g0028 |
19 | 271 | 0.0701 | -32 | c.*50 others(41): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 166 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437832 | TATACACA others(25): Show |
T | downstream_gene_variant | MODIFIER | HG00673.hp2 HG02071.hp2 HG02135.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 a0001c0002t0001g0033 a0001c0002t0001g0042 others(6): Show |
11 | 395 | 0.0278 | -32 | c.*98 others(42): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 486 | chr9 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181641324 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(161): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0157 others(160): Show |
164 | 296 | 0.5541 | -32 | c.238 others(51): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168552349 | TACACACA others(25): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0175 a0001c0001t0002g0052 a0001c0001t0003g0006 others(4): Show |
7 | 26 | 0.2692 | -32 | c.276 others(49): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0002g0029 |
12 | 40 | 0.3000 | -32 | c.74+ others(47): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119552287 | TAATAAAT others(25): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01070.hp2 others(21): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0009 | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(2): Show | a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0086 others(21): Show |
24 | 174 | 0.1379 | -32 | c.240 others(49): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121998432 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03453.hp1 HG03471.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0270 |
3 | 9 | 0.3333 | -32 | c.300 others(51): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390505 | ATATACAC others(25): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(25): Show |
28 | 90 | 0.3111 | -32 | c.242 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80440339 | ATGCTTCC others(25): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 96 | 0.0104 | -32 | c.242 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132946655 | GATCCCAG others(25): Show |
G | upstream_gene_variant | MODIFIER | HG01169.hp1 HG02486.hp2 HG03017.hp1 others(1): Show |
a0021a0054a0057 | a0021c0033a0054c0105a0057c0104 | a0021c0033t0001a0021c0033t0004a0054c0105t0001others(1): Show | a0021c0033t0001g0237 a0021c0033t0004g0238 a0054c0105t0001g0239 others(1): Show |
4 | 244 | 0.0164 | -32 | c.-42 others(43): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 4086 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132946769 | TCTCAGCA others(25): Show |
T | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0012 | a0012c0073 | a0012c0073t0002 | a0012c0073t0002g0005 | 1 | 132 | 0.0076 | -32 | c.-43 others(43): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 4200 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35924041 | GTGTATAT others(25): Show |
G | intron_variant | MODIFIER | NA19085.hp1 | a0014 | a0014c0011 | a0014c0011t0001 | a0014c0011t0001g0142 | 1 | 214 | 0.0047 | -32 | c.250 others(49): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9596057 | GTGTATAT others(25): Show |
G | intron_variant | MODIFIER | HG02056.hp1 NA19060.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 a0001c0002t0001g0156 |
2 | 242 | 0.0083 | -32 | c.536 others(49): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96486137 | TTTTCTTT others(25): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02896.hp1 HG03098.hp1 others(1): Show |
a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 others(1): Show |
4 | 99 | 0.0404 | -32 | c.-34 others(43): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3439 | chr12 | TogoVar | |||||||
CFAP58_chr10_104348833_104460102 | 104357900 | TACACATA others(25): Show |
T | intron_variant | MODIFIER | HG02965.hp1 NA19087.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0169 a0001c0004t0001g0091 |
2 | 273 | 0.0073 | -32 | c.10- others(45): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104357921 | GTACACAT others(25): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0302 a0001c0004t0001g0301 |
2 | 305 | 0.0066 | -32 | c.10- others(45): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104396369 | TGAGAGAG others(25): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02280.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0092 others(4): Show |
7 | 53 | 0.1321 | -32 | c.167 others(51): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886714 | CTATACAT others(25): Show |
C | downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 1 | 390 | 0.0026 | -32 | c.*28 others(43): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 740 | chr11 | TogoVar | |||||||
CFAP68_chr11_111874541_111890975 | 111886719 | CATATATA others(25): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 209 | 0.0048 | -32 | c.*28 others(43): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 745 | chr11 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90264104 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01256.hp2 others(9): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0019 a0002c0001t0001g0165 a0002c0001t0001g0271 others(8): Show |
12 | 193 | 0.0622 | -32 | c.357 others(49): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132486034 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0176 | 1 | 309 | 0.0032 | -32 | c.196 others(51): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185204038 | GCTTCGGG others(25): Show |
G | upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0032 | 1 | 348 | 0.0029 | -32 | c.-18 others(41): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 39 | chr4 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75384852 | CTATATAT others(25): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(132): Show |
135 | 169 | 0.7988 | -32 | c.650 others(51): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFH_chr1_196647043_196752504 | 196692746 | TTTTCTTT others(25): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01070.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0019a0004c0004 | a0001c0001t0001a0001c0019t0001a0004c0004t0001 | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0047 others(9): Show |
12 | 91 | 0.1319 | -32 | c.133 others(51): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109756888 | GGAAAGAA others(25): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp2 HG03471.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0193 a0001c0002t0001g0061 a0001c0002t0001g0073 others(3): Show |
6 | 53 | 0.1132 | -32 | c.904 others(47): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CHAT_chr10_49609037_49672942 | 49647740 | TTTCCTTC others(25): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02572.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0001a0001c0001t0013a0005c0014t0004others(1): Show | a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0013g0020 others(4): Show |
8 | 34 | 0.2353 | -32 | c.128 others(49): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60821630 | GTATATGT others(25): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0019 | a0001c0019t0011 | a0001c0019t0011g0043 | 1 | 232 | 0.0043 | -32 | c.269 others(49): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5926058 | AAAAAAAA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0101 | 1 | 438 | 0.0023 | -32 | c.*10 others(43): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 706 | chr20 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5926062 | AAAAAAAA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0006 | 1 | 436 | 0.0023 | -32 | c.*10 others(43): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 710 | chr20 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5926064 | AAAAAATA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02165.hp1 HG03831.hp1 others(24): Show |
a0003a0015 | a0003c0003a0015c0014 | a0003c0003t0003a0015c0014t0002 | a0003c0003t0003g0006 a0003c0003t0003g0016 a0003c0003t0003g0035 others(11): Show |
27 | 403 | 0.0670 | -32 | c.*10 others(43): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 712 | chr20 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5926066 | AAAATATA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp2 NA18950.hp1 NA18978.hp1 |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003 | a0003c0003t0002g0038 a0003c0003t0003g0006 a0003c0003t0003g0068 |
3 | 430 | 0.0070 | -32 | c.*10 others(43): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 714 | chr20 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5926092 | TATATATA others(25): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp2 NA19057.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0010 | 2 | 382 | 0.0052 | -32 | c.*10 others(43): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 740 | chr20 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5926096 | TATATACA others(25): Show |
T | downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 409 | 0.0024 | -32 | c.*10 others(43): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 744 | chr20 | TogoVar | |||||||
CHIC1_chrX_73558197_73692111 | 73655432 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00639.hp1 others(109): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(103): Show |
112 | 201 | 0.5572 | -32 | c.508 others(51): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CHMP4C_chr8_81727448_81764515 | 81736085 | CAATAAAT others(25): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01167.hp2 HG01169.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 others(10): Show |
23 | 26 | 0.8846 | -32 | c.190 others(49): Show |
CHMP4C | ENSG00000164695.5 | transcript | ENST00000297265.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174807446 | CTGTGTGT others(25): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 26 | 0.0385 | -32 | c.110 others(51): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110669052 | TTATATAT others(25): Show |
T | downstream_gene_variant | MODIFIER | NA18906.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0169 a0001c0002t0004g0161 |
2 | 165 | 0.0121 | -32 | c.*71 others(43): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4803 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110669068 | TTATATAT others(25): Show |
T | downstream_gene_variant | MODIFIER | HG01099.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0142 a0001c0001t0005g0144 |
2 | 161 | 0.0124 | -32 | c.*71 others(43): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4787 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110683221 | CATTATTG others(25): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(55): Show |
a0001a0003a0004 | a0001c0002a0001c0006a0003c0004others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(13): Show | a0001c0002t0001g0134 a0001c0002t0003g0001 a0001c0002t0003g0006 others(54): Show |
58 | 170 | 0.3412 | -32 | c.989 others(49): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 9/11 | chrX | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239383389 | TTCTTTCT others(25): Show |
T | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0014 | a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0004g0030 others(1): Show |
4 | 114 | 0.0351 | -32 | c.-43 others(43): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3178 | chr1 | TogoVar | |||||||
CHRM5_chr15_33963497_34072458 | 34069311 | TTGGGAGG others(25): Show |
T | downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0068 | 1 | 334 | 0.0030 | -32 | c.*49 others(43): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1854 | chr15 | TogoVar | |||||||
CHRNA10_chr11_3660587_3676384 | 3663102 | ATCTCATC others(25): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 447 | 0.0022 | -32 | c.*29 others(43): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2484 | chr11 | TogoVar | |||||||
CHRNA7_chr15_32025515_32178018 | 32114029 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG02976.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016 | a0001c0001t0015g0302 a0001c0001t0016g0202 |
2 | 306 | 0.0065 | -32 | c.350 others(49): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHST10_chr2_100386860_100422668 | 100420967 | AAACCAGG others(25): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0008 | 1 | 362 | 0.0028 | -32 | c.-37 others(43): Show |
CHST10 | ENSG00000115526.11 | transcript | ENST00000264249.8 | protein_coding | 3300 | chr2 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2409774 | GGGAACAG others(25): Show |
G | intron_variant | MODIFIER | HG01258.hp2 | a0003 | a0003c0003 | a0003c0003t0017 | a0003c0003t0017g0119 | 1 | 342 | 0.0029 | -32 | c.-78 others(49): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33694169 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00609.hp2 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0223 a0001c0001t0002g0049 |
2 | 19 | 0.1053 | -32 | c.130 others(49): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757387 | GAAGAAAG others(25): Show |
G | intron_variant | MODIFIER | HG02258.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0002g0175 |
2 | 180 | 0.0111 | -32 | c.131 others(51): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130143752 | ATATATGT others(25): Show |
A | intron_variant | MODIFIER | HG00423.hp2 NA19002.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0019 | a0001c0001t0002g0176 a0002c0005t0019g0078 |
2 | 276 | 0.0072 | -32 | c.108 others(53): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CIB3_chr19_16156368_16178525 | 16168956 | GTTCCCCT others(25): Show |
G | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 376 | 0.0027 | -32 | c.198 others(47): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 3/5 | chr19 | TogoVar |