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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP170B_chr14_104860268_104901747 | 104889890 | CTGGATGG others(25): Show |
C | intron_variant | MODIFIER | NA18960.hp2 NA18995.hp2 |
a0008a0021 | a0008c0086a0021c0085 | a0008c0086t0002a0021c0085t0002 | a0008c0086t0002g0220a0021c0085t0002g0223 | 2 | 328 | 0.0061 | -32 | c.387 others(49): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP290_chr12_88044016_88147088 | 88119062 | TGGCTGTG others(25): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
a0004 | a0004c0005 | a0004c0005t0002a0004c0005t0004 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | 234 | 0.0556 | -32 | c.152 others(49): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93726738 | TATAGCCA others(25): Show |
T | intron_variant | MODIFIER | NA18986.hp2 | a0029 | a0029c0039 | a0029c0039t0001 | a0029c0039t0001g0307 | 1 | 354 | 0.0028 | -32 | c.650 others(49): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109142946 | GCTCTCTC others(25): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0080 | a0002c0002t0080g0210 | 1 | 228 | 0.0044 | -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 | a0002c0002t0001g0002a0002c0007t0001g0033a0002c0011t0001g0029 | 19 | 460 | 0.0413 | -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 | a0001c0002t0001g0020a0001c0002t0001g0034a0001c0002t0001g0043others(6): Show | 11 | 400 | 0.0275 | -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 |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0150a0001c0001t0001g0158a0001c0001t0001g0159others(160): Show | 164 | 298 | 0.5503 | -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 | a0001c0001t0001g0175a0001c0001t0002g0052a0001c0001t0003g0006others(4): Show | 7 | 176 | 0.0398 | -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 | a0001c0001t0001g0012a0001c0001t0001g0028a0001c0001t0002g0029 | 12 | 372 | 0.0323 | -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 | a0002c0002t0001g0039a0002c0002t0001g0040a0002c0002t0001g0087others(21): Show | 24 | 226 | 0.1062 | -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 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0332a0003c0003t0001g0333a0003c0003t0001g0334 | 3 | 354 | 0.0085 | -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 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(25): Show | 28 | 96 | 0.2917 | -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 |
a0025a0050a0051 | a0025c0033a0050c0104a0051c0105 | a0025c0033t0001a0025c0033t0003a0050c0104t0001others(1): Show | a0025c0033t0001g0238a0025c0033t0003g0237a0050c0104t0001g0236others(1): Show | 4 | 246 | 0.0163 | -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 | 246 | 0.0041 | -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 | a0013 | a0013c0011 | a0013c0011t0001 | a0013c0011t0001g0172 | 1 | 216 | 0.0046 | -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 | a0001c0002t0001g0153a0001c0002t0001g0157 | 2 | 316 | 0.0063 | -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 | a0004c0011t0001g0117a0004c0011t0001g0118a0004c0011t0001g0119others(1): Show | 4 | 268 | 0.0149 | -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 | a0001c0001t0001g0217a0001c0004t0001g0068 | 2 | 308 | 0.0065 | -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 | a0001c0001t0001g0300a0001c0004t0001g0301 | 2 | 308 | 0.0065 | -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 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0243others(4): Show | 7 | 308 | 0.0227 | -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 | 392 | 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 | 392 | 0.0026 | -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 | a0002c0001t0001g0016a0002c0001t0001g0166a0002c0001t0001g0274others(8): Show | 12 | 338 | 0.0355 | -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 | 322 | 0.0031 | -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 | 350 | 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(133): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011others(133): Show | 136 | 314 | 0.4331 | -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 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0047others(9): Show | 12 | 308 | 0.0390 | -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 | a0001c0001t0001g0214a0001c0002t0001g0083a0001c0002t0001g0090others(3): Show | 6 | 354 | 0.0170 | -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 |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0001a0001c0001t0013a0006c0014t0004others(1): Show | a0001c0001t0001g0285a0001c0001t0001g0295a0001c0001t0013g0018others(4): Show | 8 | 418 | 0.0191 | -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 | a0001c0019t0010 | a0001c0019t0010g0043 | 1 | 236 | 0.0042 | -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 | a0009c0009t0001g0111 | 1 | 440 | 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 | 440 | 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 |
a0003a0013 | a0003c0003a0013c0014 | a0003c0003t0003a0013c0014t0002 | a0003c0003t0003g0006a0003c0003t0003g0016a0003c0003t0003g0060others(12): Show | 27 | 440 | 0.0614 | -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 | a0003c0003t0002g0040a0003c0003t0003g0006a0003c0003t0003g0069 | 3 | 440 | 0.0068 | -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 | a0005c0005t0001g0012 | 2 | 440 | 0.0046 | -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 | 440 | 0.0023 | -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(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(106): Show | 113 | 208 | 0.5433 | -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 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0031others(11): Show | 23 | 408 | 0.0564 | -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 | 276 | 0.0036 | -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 | a0001c0002t0003g0171a0001c0002t0004g0161 | 2 | 172 | 0.0116 | -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 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0143a0001c0001t0013g0142 | 2 | 172 | 0.0116 | -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 | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(13): Show | a0001c0002t0003g0001a0001c0002t0003g0004a0001c0002t0003g0018others(54): Show | 58 | 172 | 0.3372 | -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 | a0001c0001t0002a0001c0001t0004a0001c0001t0015 | a0001c0001t0002g0037a0001c0001t0002g0051a0001c0001t0004g0030others(1): Show | 4 | 116 | 0.0345 | -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 | 338 | 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 | 450 | 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 | a0001c0001t0015g0303a0001c0001t0016g0201 | 2 | 307 | 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 | 364 | 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 | a0003c0003t0018 | a0003c0003t0018g0119 | 1 | 344 | 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 | a0001c0001t0001g0222a0001c0001t0002g0049 | 2 | 254 | 0.0079 | -32 | c.130 others(49): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |