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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AIMP2_chr7_6004272_6028834 | 6007087 | CATTATT | C | upstream_gene_variant | MODIFIER | HG02630.hp2 NA20805.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0288a0001c0001t0001g0289a0002c0003t0001g0045 | 3 | 442 | 0.0068 | -6 | c.-22 others(17): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 2184 | chr7 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6430044 | GGTGTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(101): Show |
a0001a0002a0008others(1): Show | a0001c0002a0002c0003a0008c0016others(1): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0003others(11): Show | a0001c0002t0001g0030a0001c0002t0001g0137a0001c0002t0001g0138others(66): Show | 104 | 454 | 0.2291 | -6 | c.277 others(23): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433611 | TCACACA | T | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(18): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0002g0009a0001c0001t0002g0018a0001c0001t0002g0197others(12): Show | 21 | 454 | 0.0463 | -6 | c.276 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44299197 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01361.hp2 others(22): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0010others(6): Show | a0001c0004t0003a0001c0005t0001a0001c0010t0001others(11): Show | a0001c0004t0003g0118a0001c0004t0003g0200a0001c0004t0003g0223others(20): Show | 25 | 426 | 0.0587 | -6 | c.*14 others(17): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 550 | chr21 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4679808 | GGTGTGT | G | intron_variant | MODIFIER | HG01243.hp1 HG03139.hp1 NA20300.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0110a0004c0006t0015a0004c0006t0175 | a0001c0001t0110g0317a0004c0006t0015g0108a0004c0006t0175g0007 | 3 | 334 | 0.0090 | -6 | c.29+ others(23): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4744625 | GCACACA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(41): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0017others(5): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0026others(34): Show | a0001c0001t0005g0196a0001c0001t0005g0202a0001c0001t0005g0203others(41): Show | 44 | 334 | 0.1317 | -6 | c.830 others(25): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4754211 | ATTCTAT | A | intron_variant | MODIFIER | HG01433.hp1 HG02129.hp1 HG02602.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0024a0001c0001t0117a0001c0001t0127others(7): Show | a0001c0001t0024g0016a0001c0001t0117g0072a0001c0001t0127g0093others(7): Show | 11 | 334 | 0.0329 | -6 | c.830 others(25): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4778571 | ATCTCTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0004a0001c0001t0010a0001c0001t0041others(49): Show | a0001c0001t0004g0059a0001c0001t0010g0149a0001c0001t0041g0248others(55): Show | 58 | 334 | 0.1737 | -6 | c.*60 others(23): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4783469 | GTGTATA | G | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG02280.hp2 HG02622.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0003a0004c0006others(1): Show | a0001c0002t0068a0001c0002t0093a0001c0002t0147others(3): Show | a0001c0002t0068g0157a0001c0002t0093g0257a0001c0002t0147g0020others(3): Show | 6 | 334 | 0.0180 | -6 | c.*98 others(15): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 6/6 | 8972 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
AJAP1_chr1_4649609_4797534 | 4783471 | GTATATA | G | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG01884.hp2 HG01928.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0169others(14): Show | a0001c0001t0003g0145a0001c0001t0003g0304a0001c0001t0003g0318others(20): Show | 23 | 334 | 0.0689 | -6 | c.*10 others(17): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 6/6 | 9006 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
AJAP1_chr1_4649609_4797534 | 4787598 | GAGGGGC | G | 3_prime_UTR_variant | MODIFIER | HG02717.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0044a0001c0002t0077a0004c0006t0076 | a0001c0002t0044g0029a0001c0002t0044g0030a0001c0002t0077g0324others(1): Show | 4 | 334 | 0.0120 | -6 | c.*51 others(17): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 6/6 | 13115 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
AJAP1_chr1_4649609_4797534 | 4790916 | TTTTTTG | T | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02602.hp1 HG02735.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0024a0001c0001t0100a0001c0001t0127others(8): Show | a0001c0001t0024g0016a0001c0001t0100g0215a0001c0001t0127g0093others(8): Show | 12 | 334 | 0.0359 | -6 | c.*84 others(17): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 6/6 | 16452 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
AJUBA_chr14_22966177_22987551 | 22971115 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(54): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0009a0001c0001t0002g0020others(9): Show | 57 | 334 | 0.1707 | -6 | c.*23 others(17): Show |
AJUBA | ENSG00000129474.17 | transcript | ENST00000262713.7 | protein_coding | 61 | chr14 | TogoVar | ||||||
AK1_chr9_127861486_127882675 | 127879066 | AACACAC | A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG03490.hp2 HG03492.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0194a0001c0001t0005g0065others(4): Show | 11 | 426 | 0.0258 | -6 | c.-14 others(17): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 1392 | chr9 | TogoVar | ||||||
AK2_chr1_33002986_33041883 | 33020188 | AACACAC | A | intron_variant | MODIFIER | HG01069.hp1 HG02257.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0105a0001c0001t0001g0153others(2): Show | 6 | 350 | 0.0171 | -6 | c.425 others(23): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4735256 | TATATAA | T | intron_variant | MODIFIER | HG00423.hp1 HG01168.hp1 HG01169.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0047a0001c0001t0001g0067a0001c0001t0001g0069others(31): Show | 35 | 462 | 0.0758 | -6 | c.151 others(23): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65152316 | ATCTCTC | A | intron_variant | MODIFIER | HG02071.hp1 NA18747.hp1 NA18999.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018 | a0001c0001t0001g0019a0001c0001t0002g0022a0001c0001t0002g0142others(1): Show | 4 | 300 | 0.0133 | -6 | c.145 others(23): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65152356 | CTCTCTA | C | intron_variant | MODIFIER | HG00438.hp2 NA18942.hp2 NA18999.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0029a0001c0002t0059 | a0001c0001t0002g0145a0001c0002t0029g0144a0001c0002t0059g0146 | 3 | 300 | 0.0100 | -6 | c.145 others(23): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65166310 | CTGTGTG | C | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01358.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0013a0001c0001t0023others(6): Show | a0001c0001t0004g0278a0001c0001t0013g0246a0001c0001t0023g0251others(24): Show | 27 | 300 | 0.0900 | -6 | c.145 others(25): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65172063 | GTATATA | G | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01884.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0018others(16): Show | a0001c0001t0001g0024a0001c0001t0001g0111a0001c0001t0009g0269others(20): Show | 23 | 300 | 0.0767 | -6 | c.146 others(25): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65183649 | CCGTGTG | C | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01106.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(10): Show | a0001c0001t0003g0297a0001c0001t0004g0278a0001c0001t0004g0294others(32): Show | 35 | 300 | 0.1167 | -6 | c.146 others(23): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65183650 | CGTGTGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(87): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(31): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(87): Show | 90 | 300 | 0.3000 | -6 | c.146 others(23): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77324318 | CGTGTGT | C | intron_variant | MODIFIER | HG00673.hp2 HG01175.hp2 HG01346.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0198a0001c0001t0001g0199a0001c0001t0001g0201others(26): Show | 29 | 284 | 0.1021 | -6 | c.700 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77355868 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp2 HG01261.hp1 HG01981.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0042a0001c0001t0001g0263others(6): Show | 9 | 284 | 0.0317 | -6 | c.891 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77368215 | CTATATA | C | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02559.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0002a0002c0002t0009others(1): Show | a0001c0001t0001g0136a0002c0002t0002g0135a0002c0002t0009g0134others(2): Show | 5 | 284 | 0.0176 | -6 | c.891 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77376445 | AAAAAAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00609.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0078a0001c0001t0001g0111a0001c0001t0001g0258others(47): Show | 50 | 284 | 0.1761 | -6 | c.892 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77391434 | TATATAC | T | intron_variant | MODIFIER | HG01256.hp2 HG01891.hp1 HG01928.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0001t0001g0213others(22): Show | 25 | 284 | 0.0880 | -6 | c.892 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77391495 | GTATATA | G | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01517.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0021others(7): Show | a0001c0001t0001g0117a0001c0003t0001g0239a0001c0003t0001g0243others(18): Show | 21 | 284 | 0.0739 | -6 | c.892 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77410585 | GTGTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(192): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(192): Show | 195 | 284 | 0.6866 | -6 | c.892 others(21): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77444158 | TCTCTCA | T | intron_variant | MODIFIER | HG02818.hp2 HG03540.hp1 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0224a0002c0002t0002g0225 | 3 | 284 | 0.0106 | -6 | c.105 others(27): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77475193 | ATATGTG | A | intron_variant | MODIFIER | HG01981.hp2 HG02257.hp1 HG03239.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0006a0002c0002t0002a0002c0006t0014 | a0001c0001t0006g0228a0002c0002t0002g0268a0002c0006t0014g0089 | 3 | 284 | 0.0106 | -6 | c.106 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77475382 | ATATATG | A | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02559.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0009 | a0001c0001t0001g0064a0002c0002t0009g0134a0002c0002t0009g0137 | 3 | 284 | 0.0106 | -6 | c.106 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77480119 | AGTGTGT | A | intron_variant | MODIFIER | HG01099.hp1 HG01169.hp1 HG01361.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(10): Show | a0001c0001t0001g0006a0001c0001t0001g0049a0001c0001t0001g0064others(18): Show | 21 | 284 | 0.0739 | -6 | c.106 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77499869 | CATTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00639.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0058others(55): Show | 58 | 284 | 0.2042 | -6 | c.114 others(27): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 10/13 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77526465 | CTTTTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02451.hp1 others(4): Show |
a0002a0003 | a0002c0002a0002c0006a0003c0005 | a0002c0002t0009a0002c0006t0014a0003c0005t0009 | a0002c0002t0009g0134a0002c0002t0009g0137a0002c0006t0014g0088others(4): Show | 7 | 284 | 0.0247 | -6 | c.142 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77531874 | TGGCGGG | T | intron_variant | MODIFIER | NA18959.hp1 NA18994.hp2 NA19012.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0021 | a0001c0001t0001g0067a0001c0003t0001g0243a0001c0003t0021g0237 | 3 | 284 | 0.0106 | -6 | c.142 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77533509 | CAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp1 HG01257.hp1 others(38): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0015others(38): Show | 41 | 284 | 0.1444 | -6 | c.142 others(25): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK6_chr5_69345984_69374520 | 69373685 | AATTTTT | A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(167): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(96): Show | 170 | 421 | 0.4038 | -6 | c.-42 others(17): Show |
AK6 | ENSG00000085231.14 | transcript | ENST00000380822.9 | protein_coding | 4166 | chr5 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96402185 | GCACACA | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01891.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0277a0001c0001t0002g0310a0001c0001t0004g0268others(2): Show | 5 | 316 | 0.0158 | -6 | c.295 others(23): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AK7_chr14_96387128_96494427 | 96418506 | CTTTTTG | C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00621.hp2 others(40): Show |
a0001a0002a0008 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0001g0105others(40): Show | 43 | 316 | 0.1361 | -6 | c.499 others(23): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AK7_chr14_96387128_96494427 | 96434422 | GTCTCTC | G | intron_variant | MODIFIER | HG00733.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0002a0003c0009t0002 | a0001c0001t0001g0295a0001c0001t0001g0304a0001c0001t0001g0313others(6): Show | 9 | 316 | 0.0285 | -6 | c.610 others(23): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AK7_chr14_96387128_96494427 | 96435893 | TGGTGAG | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0144 | 3 | 316 | 0.0095 | -6 | c.610 others(23): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AK8_chr9_132720578_132883284 | 132741638 | CGTTTTT | C | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02896.hp2 others(2): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0001a0002c0003t0001 | a0001c0004t0001g0197a0001c0004t0001g0212a0001c0004t0001g0214others(2): Show | 5 | 266 | 0.0188 | -6 | c.112 others(27): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 11/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132796770 | TACACAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02273.hp1 HG02486.hp1 others(11): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0006 | a0001c0001t0001a0002c0002t0001a0010c0006t0001 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0050others(11): Show | 14 | 266 | 0.0526 | -6 | c.980 others(23): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132806101 | CGTGTGT | C | intron_variant | MODIFIER | HG01074.hp1 HG01175.hp2 HG01192.hp1 others(16): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0012a0006c0010others(1): Show | a0001c0001t0001a0005c0012t0001a0006c0010t0001others(1): Show | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0100others(16): Show | 19 | 266 | 0.0714 | -6 | c.979 others(23): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132821763 | ATATATG | A | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02970.hp1 others(9): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0132a0001c0001t0001g0133a0002c0002t0001g0001others(9): Show | 12 | 266 | 0.0451 | -6 | c.889 others(23): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132840406 | TCACACA | T | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01109.hp1 others(36): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(6): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0044others(36): Show | 39 | 266 | 0.1466 | -6 | c.403 others(25): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 5/12 | chr9 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109497360 | ACACTCT | A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01261.hp2 others(4): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0204a0004c0004t0001g0105a0004c0004t0001g0182others(4): Show | 7 | 378 | 0.0185 | -6 | c.531 others(22): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 38/40 | chr6 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109632856 | GATAGAC | G | intron_variant | MODIFIER | HG03453.hp1 HG03579.hp2 NA18906.hp2 others(1): Show |
a0012a0022 | a0012c0017a0012c0032a0022c0031 | a0012c0017t0001a0012c0032t0001a0022c0031t0001 | a0012c0017t0001g0025a0012c0017t0001g0026a0012c0032t0001g0086others(1): Show | 4 | 378 | 0.0106 | -6 | c.125 others(21): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 12/40 | chr6 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109684873 | CAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG02257.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0002 | a0001c0002t0001g0032a0001c0002t0001g0076a0001c0002t0001g0077others(4): Show | 7 | 378 | 0.0185 | -6 | c.-12 others(23): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 1/40 | chr6 | TogoVar |