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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANK3_chr10_60021298_60394875 | 60206564 | CCACTT | C | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp2 HG02257.hp1 others(8): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0039a0001c0047others(5): Show | a0001c0001t0008a0001c0001t0034a0001c0001t0042others(8): Show | a0001c0001t0008g0047a0001c0001t0034g0058a0001c0001t0042g0145others(8): Show | 11 | 192 | 0.0573 | -5 | c.119 others(22): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 10/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60226395 | ATATAG | A | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG02895.hp1 others(3): Show |
a0001a0004a0013 | a0001c0001a0001c0016a0001c0054others(2): Show | a0001c0001t0044a0001c0016t0006a0001c0054t0005others(3): Show | a0001c0001t0044g0189a0001c0016t0006g0011a0001c0054t0005g0151others(3): Show | 6 | 192 | 0.0313 | -5 | c.897 others(22): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 8/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60235550 | GTTTTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(37): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0001g0065a0001c0001t0001g0067a0001c0001t0001g0119others(37): Show | 40 | 192 | 0.2083 | -5 | c.799 others(20): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60243623 | ATGAGT | A | intron_variant | MODIFIER | HG01123.hp1 HG02622.hp2 HG03139.hp2 others(2): Show |
a0001a0004a0007others(2): Show | a0001c0075a0004c0076a0007c0017others(2): Show | a0001c0075t0002a0004c0076t0047a0007c0017t0049others(2): Show | a0001c0075t0002g0071a0004c0076t0047g0132a0007c0017t0049g0023others(2): Show | 5 | 192 | 0.0260 | -5 | c.799 others(22): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60246255 | CAAAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02965.hp2 others(2): Show |
a0001a0003a0008 | a0001c0039a0001c0047a0001c0055others(2): Show | a0001c0039t0012a0001c0047t0045a0001c0055t0015others(2): Show | a0001c0039t0012g0034a0001c0047t0045g0131a0001c0055t0015g0130others(2): Show | 5 | 192 | 0.0260 | -5 | c.799 others(24): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60246277 | AAAAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00609.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0065a0001c0001t0001g0067a0001c0001t0001g0119others(17): Show | 20 | 192 | 0.1042 | -5 | c.799 others(24): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60258810 | CTACTG | C | intron_variant | MODIFIER | HG00323.hp2 HG01361.hp2 HG01496.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0079 | a0001c0001t0003a0001c0001t0004a0002c0004t0002others(1): Show | a0001c0001t0003g0113a0001c0001t0004g0112a0002c0004t0002g0032others(1): Show | 4 | 192 | 0.0208 | -5 | c.798 others(22): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60311474 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(61): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0005others(41): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(54): Show | a0001c0001t0001g0103a0001c0001t0001g0106a0001c0001t0001g0119others(61): Show | 64 | 192 | 0.3333 | -5 | c.115 others(24): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189672749 | GCTACT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0007a0001c0008others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(23): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(288): Show | 291 | 296 | 0.9831 | -5 | c.-21 others(16): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 1920 | chr2 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189675241 | TAAATC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(46): Show |
a0001a0013a0014 | a0001c0001a0001c0018a0013c0014others(1): Show | a0001c0001t0001a0001c0018t0001a0013c0014t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(46): Show | 49 | 296 | 0.1655 | -5 | c.-36 others(20): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKAR_chr2_189669670_189751647 | 189713041 | TAATGA | T | intron_variant | MODIFIER | HG01261.hp2 HG02109.hp2 HG02135.hp1 others(15): Show |
a0003a0004 | a0003c0003a0003c0010a0004c0006others(1): Show | a0003c0003t0001a0003c0010t0001a0004c0006t0001others(1): Show | a0003c0003t0001g0279a0003c0003t0001g0282a0003c0003t0001g0283others(15): Show | 18 | 296 | 0.0608 | -5 | c.222 others(24): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKAR_chr2_189669670_189751647 | 189714967 | AGAGAG | A | intron_variant | MODIFIER | HG01167.hp2 HG02074.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0036 | 3 | 296 | 0.0101 | -5 | c.222 others(24): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 10/22 | chr2 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189728442 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(126): Show |
a0001a0005a0008others(4): Show | a0001c0001a0001c0007a0001c0008others(8): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(126): Show | 129 | 296 | 0.4358 | -5 | c.303 others(20): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 14/22 | chr2 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64950729 | GCCCCC | G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(43): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0021others(43): Show | 46 | 338 | 0.1361 | -5 | c.148 others(22): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64951373 | CTTTCT | C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02145.hp1 others(11): Show |
a0001a0009a0010 | a0001c0002a0009c0021a0010c0014 | a0001c0002t0004a0009c0021t0004a0010c0014t0002 | a0001c0002t0004g0191a0001c0002t0004g0192a0001c0002t0004g0208others(11): Show | 14 | 338 | 0.0414 | -5 | c.148 others(24): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64951378 | TTTTTC | T | intron_variant | MODIFIER | HG01167.hp1 HG02257.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0143a0001c0002t0002g0147a0001c0002t0002g0150 | 3 | 338 | 0.0089 | -5 | c.148 others(24): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64951399 | TTTTTC | T | intron_variant | MODIFIER | HG02886.hp1 HG03491.hp2 HG03516.hp2 others(1): Show |
a0001a0008 | a0001c0001a0008c0019 | a0001c0001t0001a0008c0019t0001 | a0001c0001t0001g0027a0001c0001t0001g0199a0001c0001t0001g0242others(1): Show | 4 | 338 | 0.0118 | -5 | c.148 others(24): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64951425 | TTCTTC | T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02258.hp2 others(2): Show |
a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0007a0002c0006t0007g0131a0002c0006t0007g0168others(1): Show | 5 | 338 | 0.0148 | -5 | c.148 others(24): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64951448 | CTTTCT | C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0003a0001c0009t0003 | a0001c0004t0003g0193a0001c0004t0003g0252a0001c0004t0003g0312others(1): Show | 4 | 338 | 0.0118 | -5 | c.148 others(24): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64951485 | CTTCTT | C | intron_variant | MODIFIER | HG02922.hp2 HG03486.hp2 HG03579.hp2 others(1): Show |
a0001a0004 | a0001c0004a0001c0009a0004c0007 | a0001c0004t0003a0001c0009t0003a0004c0007t0003 | a0001c0004t0003g0040a0001c0009t0003g0180a0004c0007t0003g0240others(1): Show | 4 | 338 | 0.0118 | -5 | c.148 others(24): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64951619 | TTCTTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(200): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(195): Show | 203 | 338 | 0.6006 | -5 | c.148 others(24): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64952114 | TCTTTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(158): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(154): Show | 161 | 338 | 0.4763 | -5 | c.148 others(24): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64955043 | CTTTCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(66): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0002c0005others(2): Show | a0001c0002t0002a0002c0003t0002a0002c0005t0002others(2): Show | a0001c0002t0002g0143a0001c0002t0002g0147a0001c0002t0002g0150others(65): Show | 69 | 338 | 0.2041 | -5 | c.148 others(24): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75635851 | CCCAGT | C | frameshift_variant | HIGH | HG00741.hp1 HG01106.hp2 HG01167.hp2 others(12): Show |
a0006a0015a0020 | a0006c0009a0006c0015a0006c0034others(3): Show | a0006c0009t0007a0006c0015t0001a0006c0034t0003others(3): Show | a0006c0009t0007g0141a0006c0009t0007g0207a0006c0009t0007g0209others(11): Show | 15 | 372 | 0.0403 | -5 | c.768 others(12): Show |
p.Gln others(5): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/14 | 950/2575 | 768/1587 | 256/528 | chr5 | TogoVar | ||
ANKDD1B_chr5_75606453_75676846 | 75637240 | CAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01261.hp2 HG02132.hp1 others(11): Show |
a0001a0007a0008others(4): Show | a0001c0001a0007c0007a0008c0008others(4): Show | a0001c0001t0006a0007c0007t0013a0007c0007t0014others(5): Show | a0001c0001t0006g0084a0001c0001t0006g0154a0001c0001t0006g0196others(10): Show | 14 | 372 | 0.0376 | -5 | c.798 others(22): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75673758 | AGCCTG | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG01099.hp2 others(48): Show |
a0002a0004a0005others(9): Show | a0002c0002a0002c0029a0004c0005others(11): Show | a0002c0002t0003a0002c0002t0004a0002c0029t0004others(13): Show | a0002c0002t0003g0262a0002c0002t0003g0263a0002c0002t0003g0266others(43): Show | 51 | 372 | 0.1371 | -5 | c.*27 others(16): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1913 | chr5 | TogoVar | ||||||
ANKEF1_chr20_10029987_10063303 | 10050363 | ATTAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01069.hp1 others(32): Show |
a0001a0003a0011others(1): Show | a0001c0002a0003c0004a0011c0022others(1): Show | a0001c0002t0009a0001c0002t0017a0001c0002t0020others(11): Show | a0001c0002t0009g0008a0001c0002t0009g0013a0001c0002t0009g0018others(19): Show | 35 | 392 | 0.0893 | -5 | c.164 others(22): Show |
ANKEF1 | ENSG00000132623.16 | transcript | ENST00000378392.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56177805 | TTTTTG | T | intron_variant | MODIFIER | HG01106.hp1 HG01496.hp2 HG01934.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0009t0001others(7): Show | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0008g0025others(11): Show | 14 | 112 | 0.1250 | -5 | c.-71 others(24): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56202300 | TCAGCC | T | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00639.hp1 others(34): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0028others(24): Show | a0001c0001t0001g0055a0001c0001t0001g0091a0001c0001t0001g0098others(34): Show | 37 | 112 | 0.3304 | -5 | c.-70 others(24): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56205077 | AAAAAC | A | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG01934.hp1 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0026a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0029others(4): Show | a0001c0001t0001g0091a0001c0001t0001g0098a0001c0001t0001g0099others(10): Show | 13 | 112 | 0.1161 | -5 | c.-70 others(22): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56220687 | AGAAAG | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02280.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0007a0002c0008a0003c0003others(1): Show | a0001c0007t0010a0002c0008t0002a0002c0008t0005others(3): Show | a0001c0007t0010g0108a0002c0008t0002g0088a0002c0008t0005g0001others(3): Show | 6 | 112 | 0.0536 | -5 | c.13- others(20): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56401325 | AGTATT | A | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02451.hp1 others(5): Show |
a0001a0002a0004 | a0001c0004a0002c0002a0004c0005 | a0001c0004t0011a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0004t0011g0090a0002c0002t0001g0016a0002c0002t0002g0080others(5): Show | 8 | 112 | 0.0714 | -5 | c.910 others(24): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56401368 | ATTGTG | A | intron_variant | MODIFIER | HG01884.hp1 NA18522.hp1 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0011a0002c0002t0010 | a0001c0004t0011g0090a0002c0002t0010g0034 | 2 | 112 | 0.0179 | -5 | c.910 others(24): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56506040 | ATTTGT | A | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00621.hp2 others(30): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0028a0001c0001t0029others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0048others(30): Show | 33 | 112 | 0.2946 | -5 | c.264 others(24): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFY1_chr17_4158821_4268979 | 4158979 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01081.hp1 others(23): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0015a0001c0001t0027others(5): Show | a0001c0001t0001g0231a0001c0001t0001g0234a0001c0001t0001g0240others(23): Show | 26 | 300 | 0.0867 | -5 | c.*87 others(16): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 4841 | chr17 | TogoVar | ||||||
ANKFY1_chr17_4158821_4268979 | 4188946 | AAAGGT | A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01192.hp2 others(14): Show |
a0001 | a0001c0003a0001c0010 | a0001c0003t0001a0001c0003t0016a0001c0003t0026others(1): Show | a0001c0003t0001g0144a0001c0003t0001g0152a0001c0003t0001g0193others(14): Show | 17 | 300 | 0.0567 | -5 | c.147 others(22): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 11/24 | chr17 | TogoVar | ||||||
ANKFY1_chr17_4158821_4268979 | 4201479 | ATTTTT | A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01192.hp2 others(15): Show |
a0001 | a0001c0003a0001c0004a0001c0008others(1): Show | a0001c0003t0001a0001c0003t0016a0001c0003t0026others(3): Show | a0001c0003t0001g0144a0001c0003t0001g0152a0001c0003t0001g0193others(15): Show | 18 | 300 | 0.0600 | -5 | c.899 others(22): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 7/24 | chr17 | TogoVar | ||||||
ANKFY1_chr17_4158821_4268979 | 4211918 | ACAAAC | A | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0001a0001c0002t0006a0001c0002t0018others(3): Show | a0001c0002t0001g0149a0001c0002t0006g0195a0001c0002t0018g0190others(7): Show | 10 | 300 | 0.0333 | -5 | c.459 others(22): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 4/24 | chr17 | TogoVar | ||||||
ANKFY1_chr17_4158821_4268979 | 4248234 | GCGGGC | G | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0152a0001c0003t0001g0193a0001c0003t0001g0222others(1): Show | 4 | 300 | 0.0133 | -5 | c.11- others(20): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 1/24 | chr17 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140419917 | CCCCCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0103a0001c0001t0001g0143a0001c0001t0001g0165others(41): Show | 44 | 322 | 0.1367 | -5 | c.307 others(24): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140499237 | TAAGTC | T | intron_variant | MODIFIER | HG01496.hp1 HG02717.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(3): Show | 6 | 322 | 0.0186 | -5 | c.300 others(24): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 15/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKH_chr5_14699800_14876778 | 14768522 | GAATAA | G | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp1 |
a0001 | a0001c0009a0001c0010 | a0001c0009t0062a0001c0010t0052 | a0001c0009t0062g0208a0001c0010t0052g0154 | 2 | 232 | 0.0086 | -5 | c.313 others(20): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14774885 | AAATAG | A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01071.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0059a0001c0001t0001g0068a0001c0001t0001g0074others(64): Show | 67 | 232 | 0.2888 | -5 | c.97- others(20): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14853988 | GAACAC | G | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02280.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0030a0001c0002t0006g0032a0001c0002t0006g0081 | 3 | 232 | 0.0129 | -5 | c.96+ others(22): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14858754 | TAAATA | T | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0035a0001c0001t0001g0041others(54): Show | 57 | 232 | 0.2457 | -5 | c.96+ others(22): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92261390 | GTTTGT | G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(92): Show |
a0001a0006 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0019others(7): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004others(92): Show | 95 | 314 | 0.3026 | -5 | c.-91 others(24): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ANKIB1_chr7_92240974_92406383 | 92338477 | TTTGAG | T | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02615.hp1 others(16): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0013a0001c0004t0005a0001c0004t0006others(1): Show | a0001c0003t0013g0018a0001c0004t0005g0014a0001c0004t0005g0019others(16): Show | 19 | 314 | 0.0605 | -5 | c.788 others(22): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ANKIB1_chr7_92240974_92406383 | 92338934 | ATATAT | A | intron_variant | MODIFIER | HG00597.hp1 NA18955.hp2 NA18984.hp2 others(1): Show |
a0002a0003 | a0002c0001a0003c0006 | a0002c0001t0001a0003c0006t0002 | a0002c0001t0001g0134a0002c0001t0001g0138a0002c0001t0001g0236others(1): Show | 4 | 314 | 0.0127 | -5 | c.788 others(22): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 5/19 | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92371949 | GGGTGT | G | intron_variant | MODIFIER | HG01106.hp1 HG02071.hp1 NA18972.hp2 |
a0001a0002 | a0001c0003a0001c0005a0002c0001 | a0001c0003t0002a0001c0005t0003a0002c0001t0001 | a0001c0003t0002g0272a0001c0005t0003g0185a0002c0001t0001g0084 | 3 | 314 | 0.0096 | -5 | c.161 others(22): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ANKLE1_chr19_17276901_17292646 | 17280981 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(91): Show |
a0002a0003a0004others(7): Show | a0002c0002a0003c0003a0003c0006others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0002t0012others(20): Show | a0002c0002t0002g0002a0002c0002t0002g0006a0002c0002t0002g0018others(26): Show | 94 | 406 | 0.2315 | -5 | c.-93 others(14): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 919 | chr19 | TogoVar |