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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANK2_chr4_113044653_113388736 | 113163764 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0029 | 1 | 178 | 0.0056 | 20 | c.85- others(37): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113195505 | G | GTACATGT others(13): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 | 1 | 178 | 0.0056 | 20 | c.187 others(35): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 2/45 | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113308884 | A | AGGGGATG others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 178 | 0.0056 | 20 | c.254 others(39): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 23/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK3_chr10_60021298_60394875 | 60079174 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02647.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0015a0001c0039 | a0001c0001t0002a0001c0015t0004a0001c0015t0021others(1): Show | a0001c0001t0002g0135a0001c0015t0004g0035a0001c0015t0021g0149others(1): Show | 4 | 192 | 0.0208 | 20 | c.443 others(39): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 36/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60100234 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02895.hp1 HG04204.hp2 |
a0001 | a0001c0008a0001c0054 | a0001c0008t0013a0001c0054t0005 | a0001c0008t0013g0125a0001c0054t0005g0151 | 2 | 192 | 0.0104 | 20 | c.332 others(39): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 28/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60104405 | G | GAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG03540.hp1 others(1): Show |
a0010a0015a0020 | a0010c0053a0010c0088a0015c0049others(1): Show | a0010c0053t0002a0010c0088t0032a0015c0049t0001others(1): Show | a0010c0053t0002g0027a0010c0088t0032g0005a0015c0049t0001g0158others(1): Show | 4 | 192 | 0.0208 | 20 | c.332 others(39): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 28/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60288889 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 |
a0006 | a0006c0020a0006c0091 | a0006c0020t0035a0006c0091t0014 | a0006c0020t0035g0050a0006c0091t0014g0001 | 2 | 192 | 0.0104 | 20 | c.115 others(37): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189729695 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03942.hp1 NA21309.hp2 |
a0001a0002a0016 | a0001c0001a0002c0002a0016c0012 | a0001c0001t0001a0002c0002t0001a0016c0012t0001 | a0001c0001t0001g0007a0002c0002t0001g0066a0016c0012t0001g0067 | 3 | 296 | 0.0101 | 20 | c.319 others(37): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKAR_chr2_189669670_189751647 | 189729703 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG03486.hp1 others(2): Show |
a0001a0008 | a0001c0001a0008c0024 | a0001c0001t0001a0008c0024t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(2): Show | 5 | 296 | 0.0169 | 20 | c.319 others(37): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKAR_chr2_189669670_189751647 | 189729715 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 296 | 0.0034 | 20 | c.319 others(37): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64945607 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(71): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0024a0001c0001t0001g0026others(70): Show | 74 | 338 | 0.2189 | 20 | c.116 others(37): 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(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03041.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0208a0001c0002t0004g0229a0001c0002t0004g0231others(2): Show | 5 | 338 | 0.0148 | 20 | c.116 others(37): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 12/14 | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64952648 | T | TCTTTCTT others(13): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0217 | 1 | 338 | 0.0030 | 20 | c.148 others(39): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64952648 | T | TCTTTCTT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(283): Show | 293 | 338 | 0.8669 | 20 | c.148 others(39): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64953538 | C | CCTTCTTC others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(199): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(194): Show | 202 | 338 | 0.5976 | 20 | c.148 others(39): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75612322 | C | CCCCCCCC others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02056.hp1 HG02132.hp1 others(1): Show |
a0009 | a0009c0010 | a0009c0010t0009 | a0009c0010t0009g0040a0009c0010t0009g0041a0009c0010t0009g0042others(1): Show | 4 | 372 | 0.0108 | 20 | c.193 others(35): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75612350 | T | TCCGCCCC others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02257.hp2 others(13): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0008 | a0002c0002t0003a0002c0002t0004a0002c0002t0016others(2): Show | a0002c0002t0003g0076a0002c0002t0003g0172a0002c0002t0003g0175others(11): Show | 16 | 372 | 0.0430 | 20 | c.193 others(35): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75637240 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0222 | 1 | 372 | 0.0027 | 20 | c.798 others(37): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKEF1_chr20_10029987_10063303 | 10061053 | A | ATATGTGT others(13): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0028 | 1 | 392 | 0.0026 | 20 | c.*53 others(31): Show |
ANKEF1 | ENSG00000132623.16 | transcript | ENST00000378392.6 | protein_coding | 2751 | chr20 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56170803 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 112 | 0.0089 | 20 | c.-71 others(39): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56170805 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0017 | 1 | 112 | 0.0089 | 20 | c.-71 others(39): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56170807 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 112 | 0.0089 | 20 | c.-71 others(39): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56170807 | T | TATACACA others(13): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0025 | 1 | 112 | 0.0089 | 20 | c.-71 others(39): 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(13): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0011 | a0011c0016 | a0011c0016t0012 | a0011c0016t0012g0077 | 1 | 112 | 0.0089 | 20 | c.-71 others(39): 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(13): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0096 | 1 | 112 | 0.0089 | 20 | c.-71 others(39): 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(13): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 112 | 0.0089 | 20 | c.-70 others(39): 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(13): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0095 | 1 | 112 | 0.0089 | 20 | c.-70 others(39): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56189179 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0012 | a0002c0012t0005 | a0002c0012t0005g0081a0002c0012t0005g0082 | 2 | 112 | 0.0179 | 20 | c.-70 others(39): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56189179 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0079 | 1 | 112 | 0.0089 | 20 | c.-70 others(39): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56189179 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01243.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0070a0001c0001t0001g0074a0001c0001t0001g0086others(10): Show | 13 | 112 | 0.1161 | 20 | c.-70 others(39): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56368276 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0006 | a0006c0014 | a0006c0014t0006 | a0006c0014t0006g0064 | 1 | 112 | 0.0089 | 20 | c.602 others(37): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56401325 | A | AGTATTGT others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01884.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0010others(6): Show | a0001c0001t0001a0001c0007t0007a0001c0007t0025others(9): Show | a0001c0001t0001g0104a0001c0007t0007g0061a0001c0007t0025g0039others(9): Show | 12 | 112 | 0.1071 | 20 | c.910 others(39): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56467791 | G | GAAAGAAG others(13): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0088 | 1 | 112 | 0.0089 | 20 | c.177 others(39): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140419917 | C | CCCCCTCC others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 322 | 0.0031 | 20 | c.307 others(39): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140419945 | C | CCTCCCCT others(13): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02717.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(2): Show | 5 | 322 | 0.0155 | 20 | c.307 others(39): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140485397 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02809.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0160a0001c0001t0001g0250others(2): Show | 5 | 322 | 0.0155 | 20 | c.199 others(37): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 12/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKH_chr5_14699800_14876778 | 14764077 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0039a0001c0002t0005others(2): Show | a0001c0001t0001g0055a0001c0001t0039g0141a0001c0002t0005g0110others(4): Show | 7 | 232 | 0.0302 | 20 | c.313 others(37): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132748882 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0184 | 1 | 350 | 0.0029 | 20 | c.848 others(35): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 3/12 | chr12 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132757431 | C | CCAGCGCT others(13): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0273 | 1 | 350 | 0.0029 | 20 | c.182 others(37): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
ANKMY2_chr7_16594779_16650754 | 16649186 | T | TAGTTGAG others(13): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0177 | 1 | 402 | 0.0025 | 20 | c.-36 others(31): Show |
ANKMY2 | ENSG00000106524.9 | transcript | ENST00000306999.7 | protein_coding | 3433 | chr7 | TogoVar | ||||||
ANKRD10_chr13_110873540_110920069 | 110892416 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00558.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0014others(26): Show | 34 | 362 | 0.0939 | 20 | c.691 others(35): Show |
ANKRD10 | ENSG00000088448.14 | transcript | ENST00000267339.6 | protein_coding | 4/5 | chr13 | TogoVar | ||||||
ANKRD10_chr13_110873540_110920069 | 110892436 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 362 | 0.0028 | 20 | c.691 others(35): Show |
ANKRD10 | ENSG00000088448.14 | transcript | ENST00000267339.6 | protein_coding | 4/5 | chr13 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89267929 | T | TGTGTCCC others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0121 | 1 | 310 | 0.0032 | 20 | c.*52 others(29): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 13/13 | 548 | chr16 | TogoVar | |||||
ANKRD11_chr16_89262630_89495561 | 89279581 | C | CCGTGGGT others(13): Show |
frameshift_variant | HIGH | NA18953.hp1 | a0032 | a0032c0050 | a0032c0050t0001 | a0032c0050t0001g0067 | 1 | 310 | 0.0032 | 20 | c.694 others(29): Show |
p.Ala others(6): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 9/13 | 7421/9301 | 6960/7992 | 2320/2663 | chr16 | TogoVar | ||
ANKRD11_chr16_89262630_89495561 | 89295981 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0088 | 1 | 310 | 0.0032 | 20 | c.227 others(37): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 4/12 | chr16 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89323399 | C | CAGCCCAG others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0121 | 1 | 310 | 0.0032 | 20 | c.-59 others(37): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89323404 | C | CAGGGCAG others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03927.hp1 NA18995.hp1 |
a0002a0026 | a0002c0002a0026c0042 | a0002c0002t0002a0002c0002t0009a0026c0042t0002 | a0002c0002t0002g0110a0002c0002t0009g0114a0026c0042t0002g0111 | 3 | 310 | 0.0097 | 20 | c.-59 others(37): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89323424 | G | GAGGGCAG others(13): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0031 | a0031c0052 | a0031c0052t0003 | a0031c0052t0003g0120 | 1 | 310 | 0.0032 | 20 | c.-59 others(37): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89323438 | T | TGAGCCGA others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0121 | 1 | 310 | 0.0032 | 20 | c.-59 others(37): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89323484 | C | CAGGGCAG others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02809.hp1 |
a0001a0008a0029 | a0001c0018a0008c0059a0029c0049 | a0001c0018t0001a0008c0059t0001a0029c0049t0001 | a0001c0018t0001g0266a0008c0059t0001g0264a0029c0049t0001g0265 | 3 | 310 | 0.0097 | 20 | c.-59 others(37): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar |