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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD53_chr2_70973630_70990499 | 70985497 | C | G | splice_region_variant | LOW | HG00423.hp1 HG02155.hp2 NA19011.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 a0001c0001t0004g0007 |
8 | 448 | 0.0179 | 0 | c.*19 others(4): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
ANKRD54_chr22_37825855_37849334 | 37832637 | C | T | splice_region_variant others(1): Show |
LOW | HG01358.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0105 | 1 | 382 | 0.0026 | 0 | c.828 others(3): Show |
p.Gln others(6): Show |
ANKRD54 | ENSG00000100124.15 | transcript | ENST00000215941.9 | protein_coding | 7/8 | 924/2087 | 828/903 | 276/300 | chr22 | TogoVar | |||
ANKRD55_chr5_56094680_56238330 | 56159892 | G | T | missense_variant others(1): Show |
MODERATE | HG00642.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0193 | 1 | 306 | 0.0033 | 0 | c.424 others(3): Show |
p.Leu others(6): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 6/12 | 547/2471 | 424/1845 | 142/614 | chr5 | TogoVar | |||
ANKRD60_chr20_58211126_58233653 | 58221330 | A | C | splice_region_variant others(1): Show |
LOW | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 | 1 | 456 | 0.0022 | 0 | c.727 others(5): Show |
ANKRD60 | ENSG00000124227.6 | transcript | ENST00000457363.2 | protein_coding | 3/3 | chr20 | TogoVar | |||||||
ANKRD60_chr20_58211126_58233653 | 58221338 | C | T | missense_variant others(1): Show |
MODERATE | HG02451.hp2 | a0012 | a0012c0020 | a0012c0020t0006 | a0012c0020t0006g0150 | 1 | 456 | 0.0022 | 0 | c.727 others(3): Show |
p.Gly others(6): Show |
ANKRD60 | ENSG00000124227.6 | transcript | ENST00000457363.2 | protein_coding | 3/4 | 727/3407 | 727/1038 | 243/345 | chr20 | TogoVar | |||
ANKRD62_chr18_12088843_12134764 | 12103150 | G | A | splice_region_variant others(1): Show |
LOW | HG02976.hp2 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0178 | 1 | 390 | 0.0026 | 0 | c.821 others(5): Show |
ANKRD62 | ENSG00000181626.12 | transcript | ENST00000587848.3 | protein_coding | 6/13 | chr18 | TogoVar | |||||||
ANKRD62_chr18_12088843_12134764 | 12127740 | C | T | splice_region_variant others(1): Show |
LOW | HG02630.hp1 HG02970.hp2 HG03098.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0058 a0003c0004t0003g0059 a0003c0004t0003g0181 others(3): Show |
8 | 390 | 0.0205 | 0 | c.256 others(6): Show |
ANKRD62 | ENSG00000181626.12 | transcript | ENST00000587848.3 | protein_coding | 13/13 | chr18 | TogoVar | |||||||
ANKRD65_chr1_1413420_1426276 | 1421013 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 146 | 0.0068 | 0 | c.1-8 others(3): Show |
ANKRD65 | ENSG00000235098.9 | transcript | ENST00000537107.6 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
ANKRD6_chr6_89428152_89638821 | 89595917 | A | G | missense_variant others(1): Show |
MODERATE | HG01934.hp2 | a0012 | a0012c0029 | a0012c0029t0001 | a0012c0029t0001g0147 | 1 | 268 | 0.0037 | 0 | c.122 others(3): Show |
p.His others(5): Show |
ANKRD6 | ENSG00000135299.18 | transcript | ENST00000339746.9 | protein_coding | 3/16 | 489/5368 | 122/2184 | 41/727 | chr6 | TogoVar | |||
ANKRD6_chr6_89428152_89638821 | 89627583 | A | C | missense_variant others(1): Show |
MODERATE | HG02717.hp2 HG03041.hp1 HG03139.hp2 others(2): Show |
a0007a0016 | a0007c0012a0016c0021 | a0007c0012t0006a0016c0021t0006 | a0007c0012t0006g0105 a0007c0012t0006g0106 a0007c0012t0006g0107 others(2): Show |
5 | 268 | 0.0187 | 0 | c.137 others(4): Show |
p.Met others(6): Show |
ANKRD6 | ENSG00000135299.18 | transcript | ENST00000339746.9 | protein_coding | 14/16 | 1739/5368 | 1372/2184 | 458/727 | chr6 | TogoVar | |||
ANKRD6_chr6_89428152_89638821 | 89629097 | G | GT | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00597.hp2 HG00642.hp2 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0026others(3): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0009others(6): Show | a0001c0002t0001g0128 a0001c0003t0002g0013 a0001c0003t0002g0014 others(41): Show |
44 | 267 | 0.1648 | 1 | c.148 others(7): Show |
ANKRD6 | ENSG00000135299.18 | transcript | ENST00000339746.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ANKRD9_chr14_102496767_102514776 | 102508547 | T | C | splice_region_variant | LOW | HG01243.hp1 HG02735.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0001t0020a0001c0001t0058others(1): Show | a0001c0001t0015g0067 a0001c0001t0020g0022 a0001c0001t0058g0068 others(1): Show |
5 | 384 | 0.0130 | 0 | c.-12 others(4): Show |
ANKRD9 | ENSG00000156381.9 | transcript | ENST00000286918.9 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
ANKS1A_chr6_34884255_35096406 | 34985075 | C | T | splice_region_variant others(1): Show |
LOW | NA18977.hp1 NA18977.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0160 a0001c0004t0004g0233 |
2 | 318 | 0.0063 | 0 | c.101 others(6): Show |
ANKS1A | ENSG00000064999.16 | transcript | ENST00000360359.5 | protein_coding | 7/23 | chr6 | TogoVar | |||||||
ANKS1A_chr6_34884255_35096406 | 35082816 | T | C | splice_region_variant others(1): Show |
LOW | HG00733.hp2 HG01192.hp1 HG02630.hp1 |
a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0220 a0001c0012t0004g0221 a0001c0012t0004g0246 |
3 | 318 | 0.0094 | 0 | c.283 others(4): Show |
p.Asn others(6): Show |
ANKS1A | ENSG00000064999.16 | transcript | ENST00000360359.5 | protein_coding | 18/24 | 2983/6350 | 2835/3405 | 945/1134 | chr6 | TogoVar | |||
ANKS1A_chr6_34884255_35096406 | 35091404 | G | A | splice_region_variant | LOW | NA18950.hp1 NA18962.hp1 NA19000.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0279 a0002c0003t0009g0282 a0002c0003t0009g0286 others(1): Show |
4 | 318 | 0.0126 | 0 | c.*27 others(5): Show |
ANKS1A | ENSG00000064999.16 | transcript | ENST00000360359.5 | protein_coding | 24/24 | chr6 | TogoVar | |||||||
ANKS1B_chr12_98738974_99989936 | 99655061 | T | A | splice_region_variant others(1): Show |
LOW | HG01081.hp1 HG01257.hp2 HG02273.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0010 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(5): Show | a0001c0001t0004g0005 a0001c0001t0007g0021 a0001c0001t0010g0001 others(5): Show |
8 | 46 | 0.1739 | 0 | c.127 others(6): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 9/26 | chr12 | TogoVar | |||||||
ANKS3_chr16_4691511_4739271 | 4729981 | G | A | missense_variant others(1): Show |
MODERATE | HG03704.hp2 | a0012 | a0012c0026 | a0012c0026t0001 | a0012c0026t0001g0268 | 1 | 372 | 0.0027 | 0 | c.169 others(3): Show |
p.Arg others(5): Show |
ANKS3 | ENSG00000168096.15 | transcript | ENST00000304283.9 | protein_coding | 3/18 | 573/2772 | 169/1971 | 57/656 | chr16 | TogoVar | |||
ANKS6_chr9_98727009_98801555 | 98773878 | G | A | missense_variant others(1): Show |
MODERATE | HG02280.hp1 | a0009 | a0009c0013 | a0009c0013t0004 | a0009c0013t0004g0210 | 1 | 346 | 0.0029 | 0 | c.182 others(4): Show |
p.Thr others(6): Show |
ANKS6 | ENSG00000165138.18 | transcript | ENST00000353234.5 | protein_coding | 9/15 | 1884/7190 | 1820/2616 | 607/871 | chr9 | TogoVar | |||
ANKUB1_chr3_149756100_149797554 | 149780462 | G | A | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG00642.hp2 HG02109.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0007a0002c0005others(2): Show | a0001c0004t0001a0001c0007t0001a0001c0007t0004others(3): Show | a0001c0004t0001g0244 a0001c0004t0001g0247 a0001c0004t0001g0248 others(7): Show |
12 | 370 | 0.0324 | 0 | c.235 others(5): Show |
ANKUB1 | ENSG00000206199.11 | transcript | ENST00000446160.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
ANLN_chr7_36384862_36458791 | 36420318 | A | T | splice_region_variant others(1): Show |
LOW | NA18961.hp1 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0342 | 1 | 406 | 0.0025 | 0 | c.201 others(6): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 11/23 | chr7 | TogoVar | |||||||
ANLN_chr7_36384862_36458791 | 36424682 | G | A | splice_region_variant others(1): Show |
LOW | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0110 | 1 | 406 | 0.0025 | 0 | c.265 others(6): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 16/23 | chr7 | TogoVar | |||||||
ANLN_chr7_36384862_36458791 | 36425997 | CT | C | splice_region_variant others(1): Show |
LOW | HG00741.hp2 HG01081.hp2 HG01123.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0003a0001c0006t0004a0001c0006t0012others(1): Show | a0001c0001t0003g0035 a0001c0006t0004g0009 a0001c0006t0004g0130 others(6): Show |
10 | 342 | 0.0292 | -1 | c.274 others(7): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANLN_chr7_36384862_36458791 | 36449844 | A | G | splice_region_variant others(1): Show |
LOW | HG02559.hp2 HG02965.hp1 |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0368 a0005c0008t0002g0369 |
2 | 406 | 0.0049 | 0 | c.325 others(6): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 23/23 | chr7 | TogoVar | |||||||
ANLN_chr7_36384862_36458791 | 36453789 | G | A | splice_region_variant | LOW | HG01257.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0335 others(3): Show |
6 | 406 | 0.0148 | 0 | c.*11 others(5): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 24/24 | chr7 | TogoVar | |||||||
ANO10_chr3_43360848_43627011 | 43549856 | A | C | splice_region_variant others(1): Show |
LOW | HG02886.hp2 NA18522.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0202 a0002c0002t0008g0203 |
2 | 222 | 0.0090 | 0 | c.166 others(6): Show |
ANO10 | ENSG00000160746.13 | transcript | ENST00000292246.8 | protein_coding | 10/12 | chr3 | TogoVar | |||||||
ANO10_chr3_43360848_43627011 | 43565732 | C | CA | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG01496.hp2 HG02559.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0008others(4): Show | a0001c0001t0003g0005 a0002c0002t0001g0053 a0002c0002t0008g0202 others(11): Show |
14 | 202 | 0.0693 | 1 | c.121 others(7): Show |
ANO10 | ENSG00000160746.13 | transcript | ENST00000292246.8 | protein_coding | 7/12 | chr3 | TogoVar | |||||||
ANO10_chr3_43360848_43627011 | 43565732 | C | CAA | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG01169.hp1 HG01891.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 others(10): Show |
13 | 201 | 0.0647 | 2 | c.121 others(15): Show |
ANO10 | ENSG00000160746.13 | transcript | ENST00000292246.8 | protein_coding | 7/12 | chr3 | TogoVar | |||||||
ANO10_chr3_43360848_43627011 | 43565732 | CA | C | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG01257.hp2 HG02622.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0189 a0001c0001t0002g0067 a0001c0001t0002g0069 others(4): Show |
7 | 195 | 0.0359 | -1 | c.121 others(7): Show |
ANO10 | ENSG00000160746.13 | transcript | ENST00000292246.8 | protein_coding | 7/12 | chr3 | TogoVar | |||||||
ANO1_chr11_70073317_70194530 | 70155906 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00735.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0071 others(13): Show |
16 | 300 | 0.0533 | 0 | c.142 others(6): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 14/25 | chr11 | TogoVar | |||||||
ANO1_chr11_70073317_70194530 | 70156939 | T | C | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG02647.hp2 HG02723.hp2 others(1): Show |
a0001a0003 | a0001c0016a0003c0014 | a0001c0016t0001a0003c0014t0001 | a0001c0016t0001g0164 a0001c0016t0001g0292 a0003c0014t0001g0176 others(1): Show |
4 | 300 | 0.0133 | 0 | c.150 others(6): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 15/25 | chr11 | TogoVar | |||||||
ANO1_chr11_70073317_70194530 | 70156948 | C | A | missense_variant others(1): Show |
MODERATE | NA21309.hp2 | a0015 | a0015c0028 | a0015c0028t0001 | a0015c0028t0001g0155 | 1 | 300 | 0.0033 | 0 | c.150 others(4): Show |
p.Thr others(6): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 16/26 | 1795/4777 | 1505/2961 | 502/986 | chr11 | TogoVar | |||
ANO1_chr11_70073317_70194530 | 70163346 | C | T | splice_region_variant others(1): Show |
LOW | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 300 | 0.0033 | 0 | c.195 others(6): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 19/25 | chr11 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5578358 | G | A | splice_region_variant others(1): Show |
LOW | HG00438.hp1 HG02080.hp2 |
a0001a0003 | a0001c0002a0003c0011 | a0001c0002t0001a0003c0011t0001 | a0001c0002t0001g0092 a0003c0011t0001g0031 |
2 | 160 | 0.0125 | 0 | c.238 others(6): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5615295 | C | A | missense_variant others(1): Show |
MODERATE | HG04204.hp2 | a0012 | a0012c0023 | a0012c0023t0001 | a0012c0023t0001g0122 | 1 | 160 | 0.0063 | 0 | c.181 others(4): Show |
p.Val others(6): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 17/25 | 1861/3683 | 1819/2997 | 607/998 | chr12 | TogoVar | |||
ANO2_chr12_5557655_5950259 | 5635355 | G | A | splice_region_variant others(1): Show |
LOW | HG01346.hp1 HG01358.hp1 HG01884.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0010 a0001c0001t0002g0133 a0001c0001t0003g0004 others(3): Show |
6 | 160 | 0.0375 | 0 | c.162 others(6): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 15/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5832446 | A | T | splice_region_variant others(1): Show |
LOW | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 160 | 0.0063 | 0 | c.785 others(5): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 5/24 | chr12 | TogoVar | |||||||
ANO3_chr11_26327130_26668289 | 26534449 | T | C | splice_region_variant others(1): Show |
LOW | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 188 | 0.0053 | 0 | c.870 others(5): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 8/26 | chr11 | TogoVar | |||||||
ANO3_chr11_26327130_26668289 | 26537400 | T | C | splice_region_variant others(1): Show |
LOW | HG02071.hp1 NA18949.hp2 NA19002.hp2 others(2): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0005a0001c0006t0006 | a0001c0002t0002g0063 a0001c0002t0002g0088 a0001c0002t0002g0103 others(2): Show |
5 | 188 | 0.0266 | 0 | c.977 others(5): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 9/26 | chr11 | TogoVar | |||||||
ANO4_chr12_100789776_101133629 | 100901648 | T | C | splice_region_variant | LOW | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0219 | 1 | 234 | 0.0043 | 0 | c.-13 others(4): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 2/28 | chr12 | TogoVar | |||||||
ANO4_chr12_100789776_101133629 | 101020139 | T | C | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG02622.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0006a0001c0013a0001c0014 | a0001c0006t0003a0001c0006t0004a0001c0013t0003others(1): Show | a0001c0006t0003g0176 a0001c0006t0004g0181 a0001c0013t0003g0040 others(1): Show |
4 | 234 | 0.0171 | 0 | c.840 others(3): Show |
p.Ile others(6): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 9/28 | 1232/4033 | 840/2868 | 280/955 | chr12 | TogoVar | |||
ANO4_chr12_100789776_101133629 | 101126870 | C | CTG | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(136): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0027 others(136): Show |
139 | 234 | 0.5940 | 2 | c.267 others(15): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO5_chr11_22188085_22288357 | 22218246 | C | T | missense_variant others(1): Show |
MODERATE | HG02622.hp1 | a0009 | a0009c0017 | a0009c0017t0015 | a0009c0017t0015g0283 | 1 | 362 | 0.0028 | 0 | c.139 others(3): Show |
p.Pro others(5): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 4/22 | 547/6742 | 139/2742 | 47/913 | chr11 | TogoVar | |||
ANO5_chr11_22188085_22288357 | 22227286 | CT | C | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00735.hp1 HG01884.hp1 others(95): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0005a0006c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0123 others(90): Show |
98 | 362 | 0.2707 | -1 | c.364 others(6): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO5_chr11_22188085_22288357 | 22236158 | T | C | splice_region_variant others(1): Show |
LOW | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0091 | 1 | 362 | 0.0028 | 0 | c.649 others(5): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 7/21 | chr11 | TogoVar | |||||||
ANO6_chr12_45211095_45437349 | 45350652 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02257.hp2 HG02258.hp1 others(8): Show |
a0002a0003a0004others(1): Show | a0002c0006a0003c0004a0004c0005others(1): Show | a0002c0006t0004a0003c0004t0004a0004c0005t0010others(2): Show | a0002c0006t0004g0001 a0002c0006t0004g0003 a0002c0006t0004g0004 others(8): Show |
11 | 232 | 0.0474 | 0 | c.748 others(5): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 6/19 | chr12 | TogoVar | |||||||
ANO6_chr12_45211095_45437349 | 45357429 | C | G | splice_region_variant others(1): Show |
LOW | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 232 | 0.0043 | 0 | c.998 others(5): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 8/19 | chr12 | TogoVar | |||||||
ANO6_chr12_45211095_45437349 | 45377477 | ATAGAAGC others(4750): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA18994.hp1 | a0011 | a0011c0013 | a0011c0013t0003 | a0011c0013t0003g0163 | 1 | 232 | 0.0043 | -4757 | c.110 others(18): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO6_chr12_45211095_45437349 | 45402026 | G | C | splice_region_variant others(1): Show |
LOW | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 232 | 0.0043 | 0 | c.161 others(6): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 13/19 | chr12 | TogoVar | |||||||
ANO7_chr2_241183677_241230976 | 241195850 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG01069.hp2 others(2): Show |
a0008 | a0008c0007 | a0008c0007t0003 | a0008c0007t0003g0003 a0008c0007t0003g0208 |
5 | 394 | 0.0127 | 0 | c.309 others(5): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
ANO7_chr2_241183677_241230976 | 241200232 | C | T | splice_region_variant others(1): Show |
LOW | NA18945.hp1 NA18947.hp2 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002 | a0003c0004t0001g0278 a0003c0004t0002g0277 |
2 | 394 | 0.0051 | 0 | c.554 others(5): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 6/24 | chr2 | TogoVar |