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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKAR_chr2_189669670_189751647 | 189745027 | C | CTAATAAT others(5): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01123.hp1 HG01243.hp2 others(20): Show |
a0001a0002a0012others(2): Show | a0001c0001a0002c0002a0012c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0094a0001c0001t0001g0099others(20): Show | 23 | 296 | 0.0777 | 12 | c.405 others(29): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64945607 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG03834.hp1 HG04228.hp1 NA18988.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0012 | a0001c0001t0001g0101a0001c0001t0001g0172a0001c0001t0001g0232others(2): Show | 5 | 338 | 0.0148 | 12 | c.116 others(29): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64945607 | C | CTTATATA others(5): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02976.hp1 HG03540.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0002c0003t0002 | a0001c0002t0004g0241a0002c0003t0002g0202a0002c0003t0002g0203 | 3 | 338 | 0.0089 | 12 | c.116 others(29): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 12/14 | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64951317 | T | TTTTCTTC others(5): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02056.hp2 NA18962.hp1 others(1): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0020 | a0001c0001t0001a0002c0003t0002a0007c0020t0001 | a0001c0001t0001g0051a0001c0001t0001g0128a0002c0003t0002g0165others(1): Show | 4 | 338 | 0.0118 | 12 | c.148 others(31): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64951553 | T | TTCTTTTC others(5): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0019 | 1 | 338 | 0.0030 | 12 | c.148 others(31): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64951560 | T | TTTCTTCT others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 |
a0001a0004 | a0001c0004a0004c0007 | a0001c0004t0003a0004c0007t0003 | a0001c0004t0003g0250a0004c0007t0003g0034 | 2 | 338 | 0.0059 | 12 | c.148 others(31): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64952726 | T | TTCTCCTT others(5): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0250 | 1 | 338 | 0.0030 | 12 | c.148 others(31): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64955013 | C | CACTTCTT others(5): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0265 | 1 | 338 | 0.0030 | 12 | c.148 others(31): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75637240 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18965.hp1 NA18998.hp1 |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0225a0003c0003t0005g0226 | 2 | 372 | 0.0054 | 12 | c.798 others(29): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75646103 | A | AATAATAA others(5): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0075 | 1 | 372 | 0.0027 | 12 | c.799 others(29): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75648269 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 372 | 0.0027 | 12 | c.799 others(29): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75648269 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(44): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0021a0002c0002t0004others(6): Show | a0001c0001t0001g0126a0001c0001t0001g0203a0001c0001t0021g0146others(42): Show | 47 | 372 | 0.1263 | 12 | c.799 others(29): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75648270 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(86): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0035a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0018others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(73): Show | 89 | 372 | 0.2393 | 12 | c.799 others(29): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75661414 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03491.hp1 NA18985.hp1 NA18998.hp2 |
a0002a0005 | a0002c0002a0005c0004 | a0002c0002t0003a0002c0002t0016a0005c0004t0003 | a0002c0002t0003g0136a0002c0002t0016g0171a0005c0004t0003g0081 | 3 | 372 | 0.0081 | 12 | c.109 others(31): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKEF1_chr20_10029987_10063303 | 10034899 | G | GGGCGGAG others(5): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 392 | 0.0026 | 12 | c.-54 others(21): Show |
ANKEF1 | ENSG00000132623.16 | transcript | ENST00000378392.6 | protein_coding | 87 | chr20 | TogoVar | ||||||
ANKEF1_chr20_10029987_10063303 | 10056496 | T | TGATAGAT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG01071.hp1 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0004a0001c0001t0022a0001c0001t0061others(9): Show | a0001c0001t0004g0002a0001c0001t0004g0005a0001c0001t0004g0009others(23): Show | 45 | 392 | 0.1148 | 12 | c.*86 others(21): Show |
ANKEF1 | ENSG00000132623.16 | transcript | ENST00000378392.6 | protein_coding | 11/11 | 879 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
ANKFN1_chr17_56148475_56522016 | 56170774 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02809.hp1 |
a0002a0007 | a0002c0002a0007c0032 | a0002c0002t0002a0002c0002t0004a0007c0032t0007 | a0002c0002t0002g0080a0002c0002t0004g0110a0007c0032t0007g0087 | 3 | 112 | 0.0268 | 12 | c.-71 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56170807 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18981.hp2 |
a0001 | a0001c0009a0001c0023 | a0001c0009t0001a0001c0023t0023 | a0001c0009t0001g0076a0001c0023t0023g0085 | 2 | 112 | 0.0179 | 12 | c.-71 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56170807 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 112 | 0.0089 | 12 | c.-71 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56170807 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02965.hp1 NA21309.hp1 |
a0002a0003 | a0002c0008a0003c0003 | a0002c0008t0002a0003c0003t0003 | a0002c0008t0002g0088a0003c0003t0003g0002 | 2 | 112 | 0.0179 | 12 | c.-71 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56188581 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0020 | a0003c0020t0020 | a0003c0020t0020g0068 | 1 | 112 | 0.0089 | 12 | c.-70 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56188581 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 112 | 0.0089 | 12 | c.-70 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56188581 | G | GTGTGTAT others(5): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0076 | 1 | 112 | 0.0089 | 12 | c.-70 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56188581 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18981.hp2 |
a0001a0007 | a0001c0023a0007c0032 | a0001c0023t0023a0007c0032t0007 | a0001c0023t0023g0085a0007c0032t0007g0087 | 2 | 112 | 0.0179 | 12 | c.-70 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56189170 | C | CATTTTTT others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG03225.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0007a0001c0028others(1): Show | a0001c0001t0001a0001c0001t0028a0001c0007t0007others(2): Show | a0001c0001t0001g0055a0001c0001t0028g0060a0001c0007t0007g0061others(3): Show | 6 | 112 | 0.0536 | 12 | c.-70 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56189170 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0063 | 1 | 112 | 0.0089 | 12 | c.-70 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56210061 | C | CATAGATA others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03017.hp2 NA19086.hp1 |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0011a0002c0002t0001 | a0001c0001t0001g0101a0001c0004t0011g0090a0002c0002t0001g0028 | 3 | 112 | 0.0268 | 12 | c.-70 others(29): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56283524 | G | GATATATA others(5): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0010 | a0001c0010t0015 | a0001c0010t0015g0021 | 1 | 112 | 0.0089 | 12 | c.54- others(29): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56368276 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01884.hp1 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0002a0002c0021others(2): Show | a0001c0004t0011a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0004t0011g0090a0002c0002t0001g0013a0002c0002t0001g0018others(10): Show | 13 | 112 | 0.1161 | 12 | c.602 others(29): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56391212 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0083 | 1 | 112 | 0.0089 | 12 | c.910 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56422341 | C | CAAATATT others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00621.hp2 others(85): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0007others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(48): Show | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0048others(85): Show | 88 | 112 | 0.7857 | 12 | c.911 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56437973 | G | GGGGTGTG others(5): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0012 | a0012c0015 | a0012c0015t0003 | a0012c0015t0003g0008 | 1 | 112 | 0.0089 | 12 | c.911 others(29): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56437973 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0012 | a0001c0001t0001a0001c0004t0005a0002c0012t0005 | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0004t0005g0006others(2): Show | 5 | 112 | 0.0446 | 12 | c.911 others(29): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56495313 | G | GTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02559.hp1 others(3): Show |
a0004a0005a0009 | a0004c0005a0005c0013a0009c0018 | a0004c0005t0004a0005c0013t0004a0009c0018t0006 | a0004c0005t0004g0005a0004c0005t0004g0011a0004c0005t0004g0095others(3): Show | 6 | 112 | 0.0536 | 12 | c.242 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56503486 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02809.hp1 others(2): Show |
a0001a0002a0003 | a0001c0010a0002c0002a0002c0008others(1): Show | a0001c0010t0015a0002c0002t0002a0002c0008t0005others(1): Show | a0001c0010t0015g0021a0002c0002t0002g0038a0002c0002t0002g0080others(2): Show | 5 | 112 | 0.0446 | 12 | c.264 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFY1_chr17_4158821_4268979 | 4194103 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0004 | a0001c0004t0032 | a0001c0004t0032g0213 | 1 | 300 | 0.0033 | 12 | c.137 others(29): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 10/24 | chr17 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140419780 | T | TTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02698.hp1 NA18939.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0001g0121others(1): Show | 4 | 322 | 0.0124 | 12 | c.307 others(31): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140419975 | C | CCTCCCCT others(5): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 322 | 0.0031 | 12 | c.307 others(31): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140458945 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02615.hp1 NA18953.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0015a0001c0001t0001g0042a0001c0001t0001g0135others(2): Show | 5 | 322 | 0.0155 | 12 | c.148 others(29): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140458981 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01516.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0001 | a0001c0001t0001g0293a0001c0019t0001g0314 | 2 | 322 | 0.0062 | 12 | c.148 others(29): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140459005 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 322 | 0.0031 | 12 | c.148 others(29): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140462724 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 322 | 0.0031 | 12 | c.167 others(31): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140485397 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01433.hp2 others(7): Show |
a0001a0003a0009 | a0001c0001a0003c0005a0009c0016 | a0001c0001t0001a0003c0005t0001a0009c0016t0001 | a0001c0001t0001g0155a0001c0001t0001g0157a0001c0001t0001g0201others(7): Show | 10 | 322 | 0.0311 | 12 | c.199 others(29): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 12/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140491139 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 322 | 0.0031 | 12 | c.224 others(31): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 14/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140533097 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 322 | 0.0031 | 12 | c.685 others(31): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKH_chr5_14699800_14876778 | 14721929 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0056a0001c0001t0008g0057a0001c0001t0008g0090 | 3 | 232 | 0.0129 | 12 | c.101 others(31): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 8/11 | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14764077 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0010a0001c0001t0025others(1): Show | a0001c0001t0001g0094a0001c0001t0010g0085a0001c0001t0010g0086others(2): Show | 5 | 232 | 0.0216 | 12 | c.313 others(29): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14783289 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0001 | 1 | 232 | 0.0043 | 12 | c.97- others(29): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14819900 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0136 | 1 | 232 | 0.0043 | 12 | c.97- others(29): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14830510 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 232 | 0.0043 | 12 | c.96+ others(29): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1/11 | chr5 | TogoVar |