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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKS1B_chr12_98738974_99989936 | 99380754 | C | CTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02922.hp2 |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0026 | a0001c0002t0018g0037a0001c0002t0026g0047 | 2 | 48 | 0.0417 | 20 | c.175 others(41): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 12/26 | chr12 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99393096 | T | TGATAGAT others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 48 | 0.0208 | 20 | c.175 others(39): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 12/26 | chr12 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99632767 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0022 | 1 | 48 | 0.0208 | 20 | c.127 others(41): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 9/26 | chr12 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99657659 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0008 | a0001c0001t0011g0002a0001c0003t0008g0031 | 2 | 48 | 0.0417 | 20 | c.112 others(39): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 8/26 | chr12 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99667353 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 48 | 0.0208 | 20 | c.112 others(41): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 8/26 | chr12 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99794460 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03239.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0005a0001c0001t0013a0001c0003t0008others(1): Show | a0001c0001t0005g0005a0001c0001t0013g0027a0001c0003t0008g0031others(1): Show | 4 | 48 | 0.0833 | 20 | c.669 others(39): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99850281 | G | GTCTCTCC others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0011a0001c0004t0001 | a0001c0001t0011g0002a0001c0004t0001g0013 | 2 | 48 | 0.0417 | 20 | c.135 others(39): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 1/26 | chr12 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99894289 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0017a0001c0003t0008a0001c0007t0007 | a0001c0001t0017g0032a0001c0003t0008g0031a0001c0007t0007g0042 | 3 | 48 | 0.0625 | 20 | c.135 others(39): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 1/26 | chr12 | TogoVar | ||||||
ANKS3_chr16_4691511_4739271 | 4714990 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0350 | 1 | 374 | 0.0027 | 20 | c.574 others(35): Show |
ANKS3 | ENSG00000168096.15 | transcript | ENST00000304283.9 | protein_coding | 6/17 | chr16 | TogoVar | ||||||
ANKS6_chr9_98727009_98801555 | 98739758 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0004 | a0004c0007 | a0004c0007t0010 | a0004c0007t0010g0285 | 1 | 348 | 0.0029 | 20 | c.251 others(39): Show |
ANKS6 | ENSG00000165138.18 | transcript | ENST00000353234.5 | protein_coding | 14/14 | chr9 | TogoVar | ||||||
ANKUB1_chr3_149756100_149797554 | 149786023 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0243 | 1 | 372 | 0.0027 | 20 | c.234 others(37): Show |
ANKUB1 | ENSG00000206199.11 | transcript | ENST00000446160.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
ANKZF1_chr2_219224806_219241679 | 219241434 | G | GTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | 20 | c.*49 others(31): Show |
ANKZF1 | ENSG00000163516.14 | transcript | ENST00000323348.10 | protein_coding | 4756 | chr2 | TogoVar | ||||||
ANKZF1_chr2_219224806_219241679 | 219241438 | G | GTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | 20 | c.*49 others(31): Show |
ANKZF1 | ENSG00000163516.14 | transcript | ENST00000323348.10 | protein_coding | 4760 | chr2 | TogoVar | ||||||
ANKZF1_chr2_219224806_219241679 | 219241442 | G | GTGTATAT others(13): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 376 | 0.0027 | 20 | c.*49 others(31): Show |
ANKZF1 | ENSG00000163516.14 | transcript | ENST00000323348.10 | protein_coding | 4764 | chr2 | TogoVar | ||||||
ANKZF1_chr2_219224806_219241679 | 219241465 | T | TATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 HG01496.hp2 |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0001 | a0001c0001t0001g0001a0007c0007t0001g0001 | 2 | 376 | 0.0053 | 20 | c.*50 others(31): Show |
ANKZF1 | ENSG00000163516.14 | transcript | ENST00000323348.10 | protein_coding | 4787 | chr2 | TogoVar | ||||||
ANLN_chr7_36384862_36458791 | 36385787 | A | AAAAATAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0323 | 1 | 408 | 0.0025 | 20 | c.-42 others(31): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 4074 | chr7 | TogoVar | ||||||
ANO10_chr3_43360848_43627011 | 43472383 | A | AACCCTTA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00621.hp1 others(69): Show |
a0002a0004a0005others(1): Show | a0002c0002a0004c0004a0005c0006others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(7): Show | a0002c0002t0001g0020a0002c0002t0001g0021a0002c0002t0001g0022others(69): Show | 72 | 224 | 0.3214 | 20 | c.179 others(41): Show |
ANO10 | ENSG00000160746.13 | transcript | ENST00000292246.8 | protein_coding | 11/12 | chr3 | TogoVar | ||||||
ANO10_chr3_43360848_43627011 | 43480989 | A | AATAATAC others(13): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 224 | 0.0045 | 20 | c.179 others(41): Show |
ANO10 | ENSG00000160746.13 | transcript | ENST00000292246.8 | protein_coding | 11/12 | chr3 | TogoVar | ||||||
ANO10_chr3_43360848_43627011 | 43614771 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02976.hp2 HG03486.hp2 others(1): Show |
a0001a0003a0012 | a0001c0001a0003c0008a0012c0009 | a0001c0001t0003a0003c0008t0001a0012c0009t0004 | a0001c0001t0003g0009a0001c0001t0003g0013a0003c0008t0001g0138others(1): Show | 4 | 224 | 0.0179 | 20 | c.-12 others(37): Show |
ANO10 | ENSG00000160746.13 | transcript | ENST00000292246.8 | protein_coding | 1/12 | chr3 | TogoVar | ||||||
ANO10_chr3_43360848_43627011 | 43614801 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01934.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0114a0001c0001t0001g0115a0001c0001t0001g0116others(4): Show | 7 | 224 | 0.0313 | 20 | c.-12 others(37): Show |
ANO10 | ENSG00000160746.13 | transcript | ENST00000292246.8 | protein_coding | 1/12 | chr3 | TogoVar | ||||||
ANO1_chr11_70073317_70194530 | 70174920 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03209.hp1 HG03654.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0001 | a0001c0001t0004g0083a0001c0004t0001g0257a0001c0004t0001g0301 | 3 | 302 | 0.0099 | 20 | c.235 others(39): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO1_chr11_70073317_70194530 | 70186352 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(26): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0031a0001c0001t0001g0067a0001c0001t0001g0069others(26): Show | 29 | 302 | 0.0960 | 20 | c.269 others(37): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO1_chr11_70073317_70194530 | 70186352 | G | GAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0257 | 1 | 302 | 0.0033 | 20 | c.269 others(37): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO1_chr11_70073317_70194530 | 70186395 | G | GAAGGAAG others(13): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0183 | 1 | 302 | 0.0033 | 20 | c.269 others(37): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO2_chr12_5557655_5950259 | 5562500 | A | AAGGAGAG others(13): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG01884.hp2 HG02257.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0140a0001c0001t0002g0159a0001c0001t0003g0004others(3): Show | 6 | 162 | 0.0370 | 20 | c.*77 others(29): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 154 | chr12 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5562562 | C | CGAGAGGA others(13): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01167.hp2 HG01346.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0004others(1): Show | a0001c0002t0001a0002c0003t0002a0003c0004t0001others(1): Show | a0001c0002t0001g0044a0002c0003t0002g0147a0003c0004t0001g0029others(1): Show | 4 | 162 | 0.0247 | 20 | c.*73 others(29): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 92 | chr12 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5610723 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0147 | 1 | 162 | 0.0062 | 20 | c.208 others(39): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 19/24 | chr12 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5610983 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03041.hp2 HG03139.hp1 others(3): Show |
a0001a0005a0006 | a0001c0001a0005c0010a0006c0012 | a0001c0001t0001a0001c0001t0003a0005c0010t0003others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0106a0001c0001t0003g0015others(3): Show | 6 | 162 | 0.0370 | 20 | c.208 others(39): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 19/24 | chr12 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5694251 | C | CAGACAGA others(13): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02895.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0001g0053a0001c0001t0002g0133 | 3 | 162 | 0.0185 | 20 | c.154 others(41): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 14/24 | chr12 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5694251 | C | CAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03209.hp1 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0002a0005c0010t0003 | a0001c0001t0002g0144a0005c0010t0003g0006 | 2 | 162 | 0.0124 | 20 | c.154 others(41): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 14/24 | chr12 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5880900 | G | GGGATGGA others(13): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02818.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0051a0001c0001t0004g0098 | 3 | 162 | 0.0185 | 20 | c.535 others(39): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 3/24 | chr12 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5902656 | A | AGGGAGGG others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0108 | 1 | 162 | 0.0062 | 20 | c.534 others(39): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 3/24 | chr12 | TogoVar | ||||||
ANO3_chr11_26327130_26668289 | 26385893 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0007a0001c0005t0026 | a0001c0003t0007g0186a0001c0005t0026g0161 | 2 | 190 | 0.0105 | 20 | c.46+ others(37): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26385908 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02027.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0003others(4): Show | a0001c0001t0001g0117a0001c0002t0002g0072a0001c0002t0002g0097others(6): Show | 9 | 190 | 0.0474 | 20 | c.46+ others(37): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26544251 | C | CACATATA others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG04199.hp2 NA18998.hp2 |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0022a0001c0004t0003a0001c0006t0006 | a0001c0002t0022g0047a0001c0004t0003g0189a0001c0006t0006g0086 | 3 | 190 | 0.0158 | 20 | c.115 others(39): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26544251 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG06807.hp1 |
a0001 | a0001c0005a0001c0008 | a0001c0005t0026a0001c0008t0009 | a0001c0005t0026g0161a0001c0008t0009g0152 | 2 | 190 | 0.0105 | 20 | c.115 others(39): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26544273 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA18949.hp1 NA19001.hp2 NA19011.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0048a0001c0001t0001g0050a0001c0002t0002g0033 | 3 | 190 | 0.0158 | 20 | c.115 others(39): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26576962 | T | TCTTTTTA others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01346.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0005a0001c0005t0006others(3): Show | a0001c0001t0001g0040a0001c0005t0005g0187a0001c0005t0006g0085others(5): Show | 8 | 190 | 0.0421 | 20 | c.144 others(41): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26586503 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0015 | 1 | 190 | 0.0053 | 20 | c.144 others(41): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO4_chr12_100789776_101133629 | 100806523 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0053a0001c0001t0004g0052 | 2 | 236 | 0.0085 | 20 | c.-14 others(41): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 1/27 | chr12 | TogoVar | ||||||
ANO4_chr12_100789776_101133629 | 100812490 | T | TCATACAT others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01361.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0001others(3): Show | a0001c0001t0003g0105a0001c0001t0004g0038a0001c0003t0001g0041others(4): Show | 7 | 236 | 0.0297 | 20 | c.-14 others(41): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ANO4_chr12_100789776_101133629 | 100919734 | A | ATCTATCT others(13): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 236 | 0.0042 | 20 | c.56- others(35): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ANO4_chr12_100789776_101133629 | 100970663 | C | CGCCTTCC others(13): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123a0001c0001t0001g0130 | 2 | 236 | 0.0085 | 20 | c.457 others(35): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 5/27 | chr12 | TogoVar | ||||||
ANO4_chr12_100789776_101133629 | 101073228 | C | CATACTAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0080a0001c0001t0001g0172a0001c0001t0001g0203others(6): Show | 9 | 236 | 0.0381 | 20 | c.131 others(39): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ANO5_chr11_22188085_22288357 | 22213891 | T | TTTTTGTT others(13): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18968.hp1 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135a0001c0001t0003g0136a0001c0001t0003g0137 | 3 | 364 | 0.0082 | 20 | c.138 others(37): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO5_chr11_22188085_22288357 | 22218115 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02970.hp2 NA18943.hp1 NA18950.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0030 | a0001c0001t0003g0111a0001c0001t0003g0132a0001c0001t0003g0135others(5): Show | 8 | 364 | 0.0220 | 20 | c.139 others(35): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO5_chr11_22188085_22288357 | 22218115 | T | TCTCACAC others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01167.hp1 others(9): Show |
a0001a0002a0010 | a0001c0001a0002c0003a0010c0013 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0001g0215a0001c0001t0006g0285a0001c0001t0009g0311others(9): Show | 12 | 364 | 0.0330 | 20 | c.139 others(35): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO5_chr11_22188085_22288357 | 22252029 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0299 | 1 | 364 | 0.0028 | 20 | c.118 others(39): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO5_chr11_22188085_22288357 | 22267508 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0335a0001c0001t0006g0301 | 2 | 364 | 0.0055 | 20 | c.189 others(39): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO5_chr11_22188085_22288357 | 22284807 | A | AGAAGAGG others(13): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(96): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0025others(18): Show | a0001c0001t0001g0008a0001c0001t0001g0025a0001c0001t0001g0101others(94): Show | 99 | 364 | 0.2720 | 20 | c.*50 others(31): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 1451 | chr11 | TogoVar |