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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN1_chr12_40687439_41077415 | 40799897 | TGAGCTTA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01255.hp2 HG01433.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0018others(1): Show | a0001c0001t0001g0118a0001c0001t0013g0133a0001c0001t0018g0048others(1): Show | 4 | 230 | 0.0174 | -9 | c.-77 others(30): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40825759 | AGTGTCCC others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054a0001c0001t0004g0184 | 2 | 230 | 0.0087 | -9 | c.-76 others(28): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40932957 | GCTGTGTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01255.hp1 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0015a0001c0006t0006g0017a0001c0006t0006g0018others(3): Show | 6 | 230 | 0.0261 | -9 | c.704 others(24): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 41007045 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01106.hp2 HG01361.hp1 others(4): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0008 | a0001c0002t0003a0001c0003t0003a0001c0003t0005others(3): Show | a0001c0002t0003g0060a0001c0003t0003g0061a0001c0003t0005g0070others(4): Show | 7 | 230 | 0.0304 | -9 | c.211 others(28): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN3_chr3_74257568_74619659 | 74391557 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(38): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0112a0001c0001t0001g0139a0001c0001t0003g0024others(38): Show | 41 | 174 | 0.2356 | -9 | c.455 others(28): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 5/22 | chr3 | TogoVar | ||||||
CNTN3_chr3_74257568_74619659 | 74529479 | ATGTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0108a0001c0001t0001g0139a0001c0001t0002g0062others(30): Show | 33 | 174 | 0.1897 | -9 | c.-80 others(26): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2158088 | TTGCATAT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01256.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0099a0001c0001t0002g0055a0001c0001t0005g0098others(6): Show | 9 | 116 | 0.0776 | -9 | c.-14 others(30): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2178137 | TGGTGTTG others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0033a0001c0001t0003g0006a0001c0001t0004g0042others(5): Show | 8 | 116 | 0.0690 | -9 | c.-14 others(30): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2287711 | GGAAGAAG others(2): Show |
G | intron_variant | MODIFIER | HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0095a0001c0002t0003g0114 | 2 | 116 | 0.0172 | -9 | c.-14 others(30): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2575809 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp2 others(12): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(9): Show | a0001c0001t0002g0028a0001c0001t0004g0081a0001c0002t0001g0088others(12): Show | 15 | 116 | 0.1293 | -9 | c.55+ others(24): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2776274 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02572.hp1 others(2): Show |
a0001a0009 | a0001c0002a0001c0005a0009c0027 | a0001c0002t0001a0001c0005t0001a0009c0027t0001 | a0001c0002t0001g0021a0001c0002t0001g0110a0001c0005t0001g0090others(2): Show | 5 | 116 | 0.0431 | -9 | c.358 others(28): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2886728 | GGTTTCAA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01256.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0099a0001c0001t0002g0055a0001c0001t0005g0098others(3): Show | 6 | 116 | 0.0517 | -9 | c.756 others(24): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 9/24 | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 3024384 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01256.hp1 HG01257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018a0001c0001t0005g0019a0001c0001t0005g0054others(1): Show | 4 | 116 | 0.0345 | -9 | c.148 others(28): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99306746 | GATAATAA others(2): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02004.hp1 HG02132.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0054others(10): Show | 13 | 66 | 0.1970 | -9 | c.-20 others(30): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99368229 | AAAATTTA others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01169.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0053a0001c0001t0004g0029a0001c0001t0005g0048others(12): Show | 15 | 66 | 0.2273 | -9 | c.-71 others(28): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | chr11 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99472375 | GCATTTAC others(2): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp2 NA18522.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0005a0002c0002t0004a0003c0003t0007others(2): Show | a0001c0001t0005g0048a0002c0002t0004g0007a0003c0003t0007g0057others(2): Show | 5 | 66 | 0.0758 | -9 | c.-70 others(28): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99543918 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01099.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0008a0001c0001t0004g0010a0001c0001t0006g0040others(7): Show | 10 | 66 | 0.1515 | -9 | c.-70 others(28): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 100113417 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01081.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0010others(6): Show | a0001c0001t0006g0066a0001c0001t0009g0043a0001c0001t0009g0063others(11): Show | 14 | 66 | 0.2121 | -9 | c.158 others(30): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1245286 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01169.hp2 others(4): Show |
a0001a0002a0003 | a0001c0005a0001c0006a0001c0007others(2): Show | a0001c0005t0001a0001c0006t0001a0001c0007t0001others(2): Show | a0001c0005t0001g0157a0001c0006t0001g0200a0001c0006t0001g0201others(4): Show | 7 | 232 | 0.0302 | -9 | c.358 others(28): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1277346 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 HG02109.hp1 others(9): Show |
a0001a0003a0006 | a0001c0002a0001c0005a0001c0006others(5): Show | a0001c0002t0001a0001c0005t0001a0001c0005t0004others(6): Show | a0001c0002t0001g0063a0001c0005t0001g0196a0001c0005t0004g0194others(9): Show | 12 | 232 | 0.0517 | -9 | c.359 others(26): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1301024 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(82): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(17): Show | a0001c0001t0001g0027a0001c0001t0001g0046a0001c0001t0001g0047others(82): Show | 85 | 232 | 0.3664 | -9 | c.761 others(26): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146414420 | TTGAGAAA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0006a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0006g0009a0001c0001t0007g0018a0001c0002t0001g0021others(2): Show | 5 | 40 | 0.1250 | -9 | c.97+ others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146469518 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03098.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(3): Show | a0001c0001t0001g0038a0001c0001t0002g0006a0001c0001t0018g0001others(3): Show | 6 | 40 | 0.1500 | -9 | c.98- others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146486046 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02486.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0020others(2): Show | a0001c0001t0001g0003a0001c0001t0007g0020a0001c0003t0020g0017others(2): Show | 5 | 40 | 0.1250 | -9 | c.98- others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146504262 | GTATTCCT others(2): Show |
G | intron_variant | MODIFIER | HG03225.hp2 HG03239.hp1 NA21309.hp2 |
a0001a0003 | a0001c0001a0001c0018a0003c0007 | a0001c0001t0018a0001c0018t0002a0003c0007t0017 | a0001c0001t0018g0001a0001c0018t0002g0012a0003c0007t0017g0031 | 3 | 40 | 0.0750 | -9 | c.98- others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147606923 | CACAGAGA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01891.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(23): Show | a0001c0001t0001g0038a0001c0001t0006g0009a0001c0001t0007g0018others(28): Show | 31 | 40 | 0.7750 | -9 | c.189 others(30): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147615227 | GCACTCCA others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01891.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(25): Show | a0001c0001t0001g0038a0001c0001t0006g0009a0001c0001t0007g0018others(30): Show | 33 | 40 | 0.8250 | -9 | c.189 others(30): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147772478 | ATATATAC others(2): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02922.hp2 HG03540.hp1 |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0010a0001c0004t0005a0001c0005t0008 | a0001c0002t0010g0002a0001c0004t0005g0004a0001c0005t0008g0005 | 3 | 40 | 0.0750 | -9 | c.209 others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148413402 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001 | a0001c0001t0007g0020a0001c0002t0001g0007 | 2 | 40 | 0.0500 | -9 | c.379 others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 23/23 | chr7 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41904311 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG01106.hp1 others(11): Show |
a0001a0006a0010others(2): Show | a0001c0001a0001c0042a0006c0007others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0042t0013others(5): Show | a0001c0001t0002g0006a0001c0001t0003g0093a0001c0001t0003g0095others(11): Show | 14 | 108 | 0.1296 | -9 | c.344 others(28): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 21/23 | chr9 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41950747 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(28): Show |
a0001a0006a0010others(2): Show | a0001c0001a0001c0012a0001c0042others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(28): Show | 31 | 108 | 0.2870 | -9 | c.208 others(28): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 13/23 | chr9 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 42056326 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG04115.hp1 |
a0001a0013 | a0001c0001a0013c0021 | a0001c0001t0002a0013c0021t0027 | a0001c0001t0002g0006a0013c0021t0027g0064 | 2 | 108 | 0.0185 | -9 | c.390 others(28): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76274705 | TTTTGTTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG03130.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0004g0191a0001c0001t0005g0046a0001c0001t0006g0052others(3): Show | 6 | 274 | 0.0219 | -9 | c.-29 others(20): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 2695 | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76457882 | AATTGAAC others(2): Show |
A | intron_variant | MODIFIER | HG02886.hp2 NA19240.hp2 |
a0002 | a0002c0012a0002c0042 | a0002c0012t0008a0002c0042t0008 | a0002c0012t0008g0242a0002c0042t0008g0036 | 2 | 274 | 0.0073 | -9 | c.133 others(28): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76506420 | CTTCCTCC others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02257.hp2 others(25): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0012others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0001g0140a0001c0001t0004g0053a0001c0001t0004g0172others(25): Show | 28 | 274 | 0.1022 | -9 | c.236 others(28): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76522651 | TCTCTTTC others(2): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG02615.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0006a0003c0003t0027 | a0001c0001t0003g0028a0001c0001t0006g0161a0003c0003t0027g0237 | 3 | 274 | 0.0110 | -9 | c.275 others(26): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76522686 | CCTTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03239.hp1 HG03669.hp1 |
a0002a0014 | a0002c0002a0014c0031 | a0002c0002t0002a0002c0002t0010a0014c0031t0002 | a0002c0002t0002g0012a0002c0002t0010g0204a0014c0031t0002g0057 | 3 | 274 | 0.0110 | -9 | c.275 others(26): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124035006 | CCCCTCCC others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02886.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0003 | a0001c0001t0003g0006a0001c0002t0001g0003a0001c0002t0001g0005others(2): Show | 5 | 64 | 0.0781 | -9 | c.82+ others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124297810 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp1 HG03139.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0009a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0009g0061a0001c0002t0001g0064a0001c0002t0002g0060others(3): Show | 6 | 64 | 0.0938 | -9 | c.381 others(28): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124392703 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02723.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0003g0006others(6): Show | 9 | 64 | 0.1406 | -9 | c.382 others(28): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124707140 | GGAAGAAG others(2): Show |
G | intron_variant | MODIFIER | HG01070.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043a0001c0001t0002g0042 | 2 | 64 | 0.0313 | -9 | c.207 others(30): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124725595 | TTTTGGCA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0017a0001c0002t0005 | a0001c0001t0005g0040a0001c0001t0017g0012a0001c0002t0005g0045 | 3 | 64 | 0.0469 | -9 | c.207 others(30): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124828735 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02723.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0043a0001c0001t0003g0006others(4): Show | 7 | 64 | 0.1094 | -9 | c.321 others(30): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43644715 | TAGATAGA others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0155a0001c0001t0001g0158others(2): Show | 5 | 384 | 0.0130 | -9 | c.264 others(24): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691407 | GGAAGGAA others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG02027.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193a0001c0001t0001g0197a0001c0001t0001g0201others(4): Show | 7 | 384 | 0.0182 | -9 | c.-39 others(28): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA5_chr2_98594314_98613512 | 98606768 | ACGTCTGG others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp1 NA18941.hp2 NA18944.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006a0001c0001t0003g0029a0001c0001t0003g0059 | 8 | 420 | 0.0191 | -9 | c.99+ others(24): Show |
COA5 | ENSG00000183513.9 | transcript | ENST00000328709.8 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164822734 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02622.hp2 others(3): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0002t0051a0004c0005t0015others(2): Show | a0001c0001t0001g0047a0001c0001t0001g0095a0001c0002t0051g0003others(3): Show | 6 | 212 | 0.0283 | -9 | c.41+ others(26): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51058554 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(106): Show |
a0001a0002a0003others(10): Show | a0001c0004a0002c0003a0002c0007others(30): Show | a0001c0004t0001a0002c0003t0001a0002c0003t0002others(45): Show | a0001c0004t0001g0078a0001c0004t0001g0183a0001c0004t0001g0219others(106): Show | 109 | 230 | 0.4739 | -9 | c.109 others(30): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51086358 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01258.hp2 HG01261.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0015a0002c0003others(3): Show | a0001c0004t0001a0001c0015t0001a0002c0003t0001others(3): Show | a0001c0004t0001g0010a0001c0015t0001g0181a0002c0003t0001g0001others(6): Show | 9 | 230 | 0.0391 | -9 | c.958 others(26): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COG2_chr1_230637481_230698982 | 230681983 | TTATCATA others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03225.hp1 NA20129.hp1 |
a0001a0003a0011 | a0001c0010a0003c0004a0011c0027 | a0001c0010t0001a0003c0004t0001a0011c0027t0001 | a0001c0010t0001g0278a0003c0004t0001g0129a0011c0027t0001g0241 | 3 | 406 | 0.0074 | -9 | c.116 others(28): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |