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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKFN1_chr17_56148475_56522016 | 56167318 | C | CATAT | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG03139.hp1 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0004a0002c0002a0005c0029others(1): Show | a0001c0004t0011a0002c0002t0016a0005c0029t0021others(2): Show | a0001c0004t0011g0065 a0002c0002t0016g0063 a0005c0029t0021g0067 others(2): Show |
5 | 26 | 0.1923 | 4 | c.-71 others(23): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56170774 | T | TTATA | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG03139.hp1 others(1): Show |
a0001a0002a0006 | a0001c0004a0002c0002a0006c0014 | a0001c0004t0011a0002c0002t0016a0006c0014t0006others(1): Show | a0001c0004t0011g0065 a0002c0002t0016g0063 a0006c0014t0006g0064 others(1): Show |
4 | 84 | 0.0476 | 4 | c.-71 others(23): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56188543 | A | ATGTG | intron_variant | MODIFIER | HG01496.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0072 a0001c0001t0008g0075 |
2 | 95 | 0.0211 | 4 | c.-70 others(23): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56188545 | A | ATGTG | intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 |
a0002a0011 | a0002c0002a0011c0019 | a0002c0002t0002a0011c0019t0006 | a0002c0002t0002g0038 a0011c0019t0006g0037 |
2 | 41 | 0.0488 | 4 | c.-70 others(23): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56188579 | G | GTATA | intron_variant | MODIFIER | HG02896.hp2 HG03225.hp1 |
a0003a0005 | a0003c0024a0005c0013 | a0003c0024t0003a0005c0013t0027 | a0003c0024t0003g0097 a0005c0013t0027g0047 |
2 | 82 | 0.0244 | 4 | c.-70 others(23): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56188581 | G | GTATA | intron_variant | MODIFIER | HG02257.hp2 HG03540.hp2 NA19088.hp2 |
a0001a0002a0005 | a0001c0004a0002c0002a0005c0022 | a0001c0004t0001a0002c0002t0016a0005c0022t0017 | a0001c0004t0001g0052 a0002c0002t0016g0012 a0005c0022t0017g0049 |
3 | 36 | 0.0833 | 4 | c.-70 others(23): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56210061 | C | CATAG | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00741.hp1 others(24): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0011others(14): Show | a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0073 others(24): Show |
27 | 68 | 0.3971 | 4 | c.-70 others(21): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56220864 | A | AAGGG | intron_variant | MODIFIER | HG01106.hp1 HG02559.hp1 HG02895.hp2 others(1): Show |
a0001a0002a0005 | a0001c0007a0001c0010a0002c0002others(1): Show | a0001c0007t0007a0001c0010t0015a0002c0002t0001others(1): Show | a0001c0007t0007g0061 a0001c0010t0015g0021 a0002c0002t0001g0016 others(1): Show |
4 | 106 | 0.0377 | 4 | c.13- others(19): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56220868 | A | AAGGG | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00741.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0028a0003c0006t0018 | a0001c0001t0001g0055 a0001c0001t0028g0060 a0003c0006t0018g0057 |
3 | 86 | 0.0349 | 4 | c.13- others(19): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56259909 | A | AACAC | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01106.hp2 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0029a0001c0010t0007others(7): Show | a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0091 others(11): Show |
14 | 53 | 0.2642 | 4 | c.53+ others(21): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56325262 | C | CTGTG | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG03139.hp1 |
a0001a0006 | a0001c0004a0006c0014 | a0001c0004t0011a0006c0014t0006a0006c0014t0022 | a0001c0004t0011g0065 a0006c0014t0006g0064 a0006c0014t0022g0066 |
3 | 24 | 0.1250 | 4 | c.54- others(17): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56332979 | G | GTGTA | intron_variant | MODIFIER | HG00621.hp2 HG01106.hp2 HG01496.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0009others(6): Show | a0001c0001t0001a0001c0004t0015a0001c0009t0001others(6): Show | a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0072 others(14): Show |
17 | 49 | 0.3469 | 4 | c.188 others(21): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56354411 | C | CTTCA | intron_variant | MODIFIER | HG02622.hp1 HG02895.hp1 HG02897.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0007a0001c0011a0001c0023others(4): Show | a0001c0007t0007a0001c0007t0011a0001c0007t0025others(6): Show | a0001c0007t0007g0061 a0001c0007t0011g0006 a0001c0007t0025g0036 others(7): Show |
10 | 105 | 0.0952 | 4 | c.601 others(19): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56391212 | C | CATAT | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00741.hp1 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0004a0001c0010a0001c0011others(4): Show | a0001c0004t0011a0001c0010t0007a0001c0011t0014others(6): Show | a0001c0004t0011g0065 a0001c0010t0007g0069 a0001c0011t0014g0022 others(12): Show |
15 | 69 | 0.2174 | 4 | c.910 others(23): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56430500 | C | CCACA | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00741.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0046 others(23): Show |
26 | 66 | 0.3939 | 4 | c.911 others(21): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56437973 | G | GGTGT | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02258.hp2 others(21): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0010others(9): Show | a0001c0001t0001a0001c0007t0007a0001c0007t0011others(12): Show | a0001c0001t0001g0046 a0001c0001t0001g0102 a0001c0007t0007g0061 others(21): Show |
24 | 44 | 0.5455 | 4 | c.911 others(21): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56480888 | G | GGTGT | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp2 HG02523.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0017others(4): Show | a0001c0001t0001a0001c0001t0008a0002c0002t0004others(6): Show | a0001c0001t0001g0046 a0001c0001t0001g0102 a0001c0001t0008g0075 others(10): Show |
13 | 91 | 0.1429 | 4 | c.209 others(21): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56481082 | C | CAAAA | intron_variant | MODIFIER | HG03098.hp2 NA18906.hp2 NA18981.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0023a0003c0006others(1): Show | a0001c0001t0001a0001c0023t0023a0003c0006t0009others(1): Show | a0001c0001t0001g0102 a0001c0023t0023g0085 a0003c0006t0009g0058 others(1): Show |
4 | 58 | 0.0690 | 4 | c.209 others(21): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56493258 | A | AAAAC | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03453.hp1 |
a0001 | a0001c0011a0001c0028 | a0001c0011t0014a0001c0028t0005 | a0001c0011t0014g0022 a0001c0011t0014g0045 a0001c0028t0005g0054 |
3 | 106 | 0.0283 | 4 | c.242 others(21): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56495313 | G | GTCTC | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00621.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0028others(10): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0046 others(32): Show |
35 | 98 | 0.3571 | 4 | c.242 others(23): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56503486 | C | CATAT | intron_variant | MODIFIER | HG02486.hp2 HG02895.hp1 HG02897.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0011a0002c0002a0003c0003others(2): Show | a0001c0011t0014a0002c0002t0010a0003c0003t0003others(2): Show | a0001c0011t0014g0022 a0001c0011t0014g0045 a0002c0002t0010g0034 others(4): Show |
7 | 13 | 0.5385 | 4 | c.264 others(23): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56516257 | A | AGTGT | 3_prime_UTR_variant | MODIFIER | HG02895.hp2 HG03041.hp1 HG03453.hp2 others(1): Show |
a0001a0007 | a0001c0004a0001c0010a0007c0027 | a0001c0004t0015a0001c0010t0015a0001c0010t0026others(1): Show | a0001c0004t0015g0010 a0001c0010t0015g0021 a0001c0010t0026g0009 others(1): Show |
4 | 67 | 0.0597 | 4 | c.*50 others(15): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 21/21 | 5014 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFY1_chr17_4158821_4268979 | 4194086 | C | CATAT | intron_variant | MODIFIER | HG01928.hp1 HG03098.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0003t0033a0001c0007t0010 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0038 others(3): Show |
6 | 142 | 0.0423 | 4 | c.137 others(21): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 10/24 | chr17 | TogoVar | |||||||
ANKFY1_chr17_4158821_4268979 | 4196144 | T | TACAC | intron_variant | MODIFIER | HG02055.hp2 NA18906.hp1 NA19030.hp1 |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0005a0001c0003t0009a0001c0004t0011 | a0001c0002t0005g0200 a0001c0003t0009g0148 a0001c0004t0011g0003 |
3 | 9 | 0.3333 | 4 | c.110 others(21): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 8/24 | chr17 | TogoVar | |||||||
ANKFY1_chr17_4158821_4268979 | 4202696 | C | CAAAA | intron_variant | MODIFIER | HG00673.hp1 HG01928.hp1 HG01978.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0025 others(15): Show |
18 | 153 | 0.1176 | 4 | c.898 others(21): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 7/24 | chr17 | TogoVar | |||||||
ANKFY1_chr17_4158821_4268979 | 4202981 | C | CATAT | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01081.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0011 | a0001c0001t0001a0001c0001t0007a0001c0009t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0031 others(15): Show |
18 | 175 | 0.1029 | 4 | c.898 others(21): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 7/24 | chr17 | TogoVar | |||||||
ANKFY1_chr17_4158821_4268979 | 4210708 | C | CAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(78): Show |
82 | 104 | 0.7885 | 4 | c.459 others(19): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 4/24 | chr17 | TogoVar | |||||||
ANKFY1_chr17_4158821_4268979 | 4215921 | A | AAACT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(273): Show |
277 | 298 | 0.9295 | 4 | c.458 others(21): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 4/24 | chr17 | TogoVar | |||||||
ANKHD1_chr5_140396833_140544849 | 140419774 | T | TTTTC | intron_variant | MODIFIER | HG00423.hp2 HG01516.hp2 HG01517.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0052 others(2): Show |
5 | 123 | 0.0407 | 4 | c.307 others(23): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140419788 | T | TTCTC | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00738.hp2 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0106 others(23): Show |
26 | 318 | 0.0818 | 4 | c.307 others(23): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140426500 | T | TTTTA | intron_variant | MODIFIER | HG00558.hp2 HG01433.hp1 HG02074.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0192 others(25): Show |
28 | 319 | 0.0878 | 4 | c.307 others(21): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140458945 | C | CATAT | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01109.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0041 others(25): Show |
28 | 210 | 0.1333 | 4 | c.148 others(21): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140458971 | T | TATGC | intron_variant | MODIFIER | HG02717.hp2 HG02809.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(2): Show |
5 | 317 | 0.0158 | 4 | c.148 others(21): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140458997 | C | CATAT | intron_variant | MODIFIER | HG01516.hp1 HG01891.hp1 NA18988.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0265 a0001c0001t0001g0266 others(2): Show |
5 | 233 | 0.0215 | 4 | c.148 others(21): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140478995 | T | TTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(314): Show |
317 | 320 | 0.9906 | 4 | c.178 others(23): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 10/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140485397 | A | AACAC | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG02738.hp2 others(2): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0010 | a0001c0001t0001a0003c0004t0001a0006c0010t0001 | a0001c0001t0001g0004 a0001c0001t0001g0227 a0001c0001t0001g0278 others(2): Show |
5 | 61 | 0.0820 | 4 | c.199 others(21): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 12/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140487221 | C | CGTAA | intron_variant | MODIFIER | HG01496.hp1 HG02615.hp2 HG02717.hp2 others(8): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(8): Show |
11 | 320 | 0.0344 | 4 | c.224 others(21): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 14/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140491092 | G | GTATA | intron_variant | MODIFIER | HG01496.hp1 HG02717.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(3): Show |
6 | 300 | 0.0200 | 4 | c.224 others(23): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 14/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140491139 | C | CACAT | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01123.hp1 others(42): Show |
a0001a0005a0009 | a0001c0001a0005c0003a0009c0016 | a0001c0001t0001a0001c0001t0002a0005c0003t0001others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 others(42): Show |
45 | 269 | 0.1673 | 4 | c.224 others(23): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 14/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140491139 | C | CATAT | intron_variant | MODIFIER | HG01071.hp1 NA18946.hp2 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0206 a0001c0001t0001g0211 others(1): Show |
4 | 228 | 0.0175 | 4 | c.224 others(23): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 14/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140491160 | A | ATTTT | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01081.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0039 a0001c0001t0001g0196 a0001c0001t0001g0202 others(3): Show |
6 | 105 | 0.0571 | 4 | c.224 others(23): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 14/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140497877 | C | CCACA | intron_variant | MODIFIER | HG01243.hp2 HG01257.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0001 | a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0053 others(3): Show |
6 | 107 | 0.0561 | 4 | c.300 others(21): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 15/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140503553 | C | CTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01192.hp1 HG01358.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0080 a0001c0001t0001g0086 others(6): Show |
9 | 46 | 0.1957 | 4 | c.300 others(23): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 15/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140526696 | T | TCTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0006a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(215): Show |
218 | 320 | 0.6813 | 4 | c.494 others(21): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 26/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140542703 | A | AAAAG | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(30): Show |
a0001a0003a0006 | a0001c0001a0001c0012a0003c0004others(1): Show | a0001c0001t0001a0001c0012t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(30): Show |
33 | 319 | 0.1034 | 4 | c.*32 others(15): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 2855 | chr5 | TogoVar | |||||||
ANKH_chr5_14699800_14876778 | 14710254 | G | GACTT | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01167.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0028a0001c0001t0029others(3): Show | a0001c0001t0005g0019 a0001c0001t0005g0026 a0001c0001t0028g0127 others(9): Show |
12 | 230 | 0.0522 | 4 | c.*93 others(13): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 12/12 | 942 | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14710777 | G | GTTGA | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0046a0001c0001t0064a0001c0005t0020 | a0001c0001t0046g0132 a0001c0001t0064g0224 a0001c0005t0020g0032 others(1): Show |
4 | 230 | 0.0174 | 4 | c.*41 others(13): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 12/12 | 419 | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14711880 | G | GTCAC | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01928.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0028a0001c0001t0029others(2): Show | a0001c0001t0005g0019 a0001c0001t0005g0026 a0001c0001t0028g0127 others(8): Show |
11 | 230 | 0.0478 | 4 | c.136 others(21): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
ANKH_chr5_14699800_14876778 | 14716492 | C | CAATA | intron_variant | MODIFIER | HG01928.hp1 HG02074.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0012 a0001c0002t0005g0124 |
2 | 212 | 0.0094 | 4 | c.114 others(21): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 9/11 | chr5 | TogoVar | |||||||
ANKH_chr5_14699800_14876778 | 14736006 | C | CTTTT | intron_variant | MODIFIER | HG01106.hp1 HG02486.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0006a0001c0001t0012a0001c0001t0015others(2): Show | a0001c0001t0006g0083 a0001c0001t0006g0140 a0001c0001t0012g0051 others(3): Show |
6 | 106 | 0.0566 | 4 | c.101 others(23): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 8/11 | chr5 | TogoVar |