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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP1G1_chr16_71724000_71813834 | 71736117 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 320 | 0.0031 | 17 | c.226 others(36): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71736117 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0238 | 1 | 320 | 0.0031 | 17 | c.226 others(36): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG others(10): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18949.hp2 NA18997.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0130a0001c0001t0147 | a0001c0001t0004g0239a0001c0001t0130g0225a0001c0001t0147g0240 | 3 | 308 | 0.0097 | 17 | c.546 others(34): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0138 | 1 | 394 | 0.0025 | 17 | c.*25 others(28): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18972.hp1 NA18972.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0181 | 3 | 318 | 0.0094 | 17 | c.427 others(34): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0032a0001c0001t0001g0146others(2): Show | 8 | 318 | 0.0252 | 17 | c.427 others(34): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01099.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0003a0001c0003t0002a0001c0005t0003 | a0001c0002t0003g0137a0001c0002t0003g0138a0001c0002t0003g0147others(11): Show | 14 | 268 | 0.0522 | 17 | c.67+ others(32): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 946770 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(94): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(94): Show | 97 | 268 | 0.3619 | 17 | c.68- others(34): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 991686 | G | GGCTCCAG others(10): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0164 | 1 | 268 | 0.0037 | 17 | c.127 others(34): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 372 | 0.0027 | 17 | c.278 others(36): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720574 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0292 | 1 | 372 | 0.0027 | 17 | c.278 others(36): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78174539 | C | CAGCACAG others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 226 | 0.0044 | 17 | c.116 others(36): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78184686 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0001a0006 | a0001c0005a0006c0013 | a0001c0005t0001a0001c0005t0002a0006c0013t0002 | a0001c0005t0001g0195a0001c0005t0002g0190a0001c0005t0002g0191others(2): Show | 5 | 226 | 0.0221 | 17 | c.787 others(34): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 NA18949.hp2 NA18982.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0180a0001c0002t0001g0183a0001c0002t0002g0171 | 3 | 226 | 0.0133 | 17 | c.787 others(36): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02015.hp2 NA18978.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0181a0001c0002t0001g0184a0001c0002t0002g0150others(2): Show | 5 | 226 | 0.0221 | 17 | c.787 others(36): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0174 | 1 | 226 | 0.0044 | 17 | c.787 others(36): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82700397 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01069.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0026a0001c0001t0001g0141a0001c0001t0001g0159others(9): Show | 12 | 368 | 0.0326 | 17 | c.113 others(34): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42166591 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013a0001c0001t0005g0061 | 5 | 392 | 0.0128 | 17 | c.804 others(32): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AP4B1_chr1_113889194_113909799 | 113907204 | G | GTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01257.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0012 | 2 | 434 | 0.0046 | 17 | c.-25 others(28): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50962889 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0302a0001c0001t0005g0330 | 2 | 392 | 0.0051 | 17 | c.185 others(36): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02074.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010 | a0001c0001t0001g0139a0001c0001t0005g0241a0001c0001t0010g0272others(2): Show | 5 | 346 | 0.0145 | 17 | c.306 others(34): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5S1_chr20_3815547_3833838 | 3816995 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0026 | 1 | 412 | 0.0024 | 17 | c.-37 others(28): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3551 | chr20 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98643816 | T | TCTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0299 | 1 | 366 | 0.0027 | 17 | c.-20 others(28): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 1473 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653687 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01168.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0094 | 2 | 366 | 0.0055 | 17 | c.526 others(34): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653689 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03492.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0085a0001c0001t0005g0086 | 2 | 366 | 0.0055 | 17 | c.526 others(34): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 366 | 0.0027 | 17 | c.526 others(34): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0038 | 2 | 366 | 0.0055 | 17 | c.526 others(34): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653691 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02602.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0064others(2): Show | 5 | 366 | 0.0137 | 17 | c.526 others(34): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98692157 | A | ACTGCAAG others(10): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 |
a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0219a0003c0005t0007g0220 | 2 | 366 | 0.0055 | 17 | c.230 others(36): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 28987753 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0147 | 1 | 204 | 0.0049 | 17 | c.-94 others(34): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29056610 | C | CTCCCTCC others(10): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01071.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(2): Show | a0002c0002t0001g0076a0002c0002t0002g0165a0002c0002t0004g0013others(3): Show | 6 | 204 | 0.0294 | 17 | c.951 others(34): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29056610 | C | CTCCCTTC others(10): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0017 | a0002c0017t0034 | a0002c0017t0034g0177 | 1 | 204 | 0.0049 | 17 | c.951 others(34): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26516543 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG02074.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0041a0001c0001t0001g0054others(8): Show | 11 | 358 | 0.0307 | 17 | c.813 others(34): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26524955 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18999.hp2 NA19060.hp2 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0158a0001c0001t0001g0232 | 3 | 358 | 0.0084 | 17 | c.814 others(34): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26524974 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01975.hp2 HG02148.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011a0001c0001t0001g0048a0001c0001t0001g0078others(3): Show | 6 | 358 | 0.0168 | 17 | c.814 others(34): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | chr10 | TogoVar | ||||||
APBB1_chr11_6390125_6424094 | 6391041 | T | TCACTGAG others(10): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0240 | 2 | 416 | 0.0048 | 17 | c.*44 others(28): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 4083 | chr11 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40858454 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01361.hp2 HG03471.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0006a0001c0003t0026 | a0001c0002t0001g0173a0001c0002t0006g0058a0001c0003t0026g0019 | 3 | 192 | 0.0156 | 17 | c.153 others(38): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40946254 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01069.hp1 HG01261.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0018a0001c0003t0003others(5): Show | a0001c0002t0001g0110a0001c0002t0018g0003a0001c0003t0003g0136others(5): Show | 8 | 192 | 0.0417 | 17 | c.836 others(34): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40946254 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0108 | 1 | 192 | 0.0052 | 17 | c.836 others(34): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40948890 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0027 | 1 | 192 | 0.0052 | 17 | c.836 others(34): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40972445 | T | TAAATAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01891.hp2 HG02486.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0001c0002t0004a0002c0001t0024others(1): Show | a0001c0002t0003g0033a0001c0002t0003g0034a0001c0002t0004g0028others(2): Show | 5 | 192 | 0.0260 | 17 | c.836 others(36): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40982405 | G | GGAAAGGA others(10): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 |
a0002 | a0002c0005 | a0002c0005t0005a0002c0005t0008 | a0002c0005t0005g0076a0002c0005t0008g0127 | 2 | 192 | 0.0104 | 17 | c.835 others(36): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41216419 | C | CGGGGGGG others(10): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0008 | a0002c0008t0046 | a0002c0008t0046g0090 | 1 | 192 | 0.0052 | 17 | c.-24 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1878 | chr4 | TogoVar | ||||||
APC2_chr19_1445121_1478244 | 1454563 | C | CTTTTCTT others(10): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0253 | 1 | 350 | 0.0029 | 17 | c.414 others(32): Show |
APC2 | ENSG00000115266.12 | transcript | ENST00000590469.6 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
APC2_chr19_1445121_1478244 | 1457895 | C | CCGGGGGG others(10): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0080a0001c0001t0026g0254 | 2 | 350 | 0.0057 | 17 | c.120 others(32): Show |
APC2 | ENSG00000115266.12 | transcript | ENST00000590469.6 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
APCDD1_chr18_10449635_10494949 | 10492170 | G | GGATTGCT others(10): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165 | 1 | 422 | 0.0024 | 17 | c.*41 others(28): Show |
APCDD1 | ENSG00000154856.13 | transcript | ENST00000355285.10 | protein_coding | 2222 | chr18 | TogoVar | ||||||
APEH_chr3_49669351_49688971 | 49673087 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 318 | 0.0031 | 17 | c.-13 others(28): Show |
APEH | ENSG00000164062.13 | transcript | ENST00000296456.10 | protein_coding | 1263 | chr3 | TogoVar | ||||||
APELA_chr4_164872178_164902527 | 164884121 | G | GAAAGAAG others(10): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0139 | 1 | 434 | 0.0023 | 17 | c.*1+ others(32): Show |
APELA | ENSG00000248329.6 | transcript | ENST00000507152.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
APH1B_chr15_63272605_63314126 | 63281359 | T | TCAGCGCC others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 422 | 0.0047 | 17 | c.284 others(34): Show |
APH1B | ENSG00000138613.14 | transcript | ENST00000261879.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68572087 | A | AGGCTTAG others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02145.hp2 others(8): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0002a0002c0011t0002 | a0002c0002t0002g0036a0002c0002t0002g0037a0002c0002t0002g0038others(8): Show | 11 | 176 | 0.0625 | 17 | c.133 others(36): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 9/9 | chr2 | TogoVar |