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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP2_chr7_146111801_148425998 | 146761830 | T | TTACTC | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02451.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0002g0006others(22): Show | 25 | 40 | 0.6250 | 5 | c.98- others(22): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146786265 | G | GAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01891.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0002g0006others(32): Show | 35 | 40 | 0.8750 | 5 | c.208 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 2/23 | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146788825 | T | TTTTTG | intron_variant | MODIFIER | HG00735.hp2 HG02486.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0007a0001c0001t0012a0001c0001t0018others(1): Show | a0001c0001t0007g0020a0001c0001t0012g0034a0001c0001t0018g0001others(1): Show | 4 | 40 | 0.1000 | 5 | c.208 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146864990 | T | TAAAAA | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0009t0019others(1): Show | a0001c0001t0001g0003a0001c0001t0002g0006a0001c0009t0019g0027others(1): Show | 4 | 40 | 0.1000 | 5 | c.402 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146937364 | A | AAAAAT | intron_variant | MODIFIER | HG02451.hp1 HG02896.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0001g0038a0001c0001t0007g0018a0001c0002t0001g0007others(4): Show | 7 | 40 | 0.1750 | 5 | c.402 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147060868 | A | AAAAAT | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02630.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0007g0020a0001c0002t0001g0007a0001c0002t0002g0013others(5): Show | 8 | 40 | 0.2000 | 5 | c.550 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147198232 | C | CTTTTT | intron_variant | MODIFIER | HG03540.hp1 NA19030.hp1 NA20129.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0010a0001c0003t0023others(1): Show | a0001c0001t0001g0038a0001c0002t0010g0002a0001c0003t0023g0030others(1): Show | 4 | 40 | 0.1000 | 5 | c.134 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147272664 | A | ATTTTT | intron_variant | MODIFIER | HG00735.hp2 HG02630.hp1 HG02897.hp1 others(3): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0009others(3): Show | a0001c0002t0001a0001c0003t0020a0001c0009t0019others(3): Show | a0001c0002t0001g0008a0001c0003t0020g0017a0001c0009t0019g0027others(3): Show | 6 | 40 | 0.1500 | 5 | c.134 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147406201 | A | AAGGAG | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0013 | a0001c0002t0001a0001c0003t0011a0001c0003t0020others(1): Show | a0001c0002t0001g0007a0001c0003t0011g0023a0001c0003t0020g0017others(1): Show | 4 | 40 | 0.1000 | 5 | c.167 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147494468 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG02886.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0013others(3): Show | a0001c0001t0001g0003a0001c0002t0002g0040a0001c0003t0013g0010others(3): Show | 6 | 40 | 0.1500 | 5 | c.177 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147515977 | C | CAAAGT | intron_variant | MODIFIER | HG03239.hp1 HG03540.hp2 NA19030.hp2 |
a0001a0002a0003 | a0001c0003a0002c0016a0003c0007 | a0001c0003t0004a0002c0016t0004a0003c0007t0017 | a0001c0003t0004g0029a0002c0016t0004g0024a0003c0007t0017g0031 | 3 | 40 | 0.0750 | 5 | c.177 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147527011 | A | ATTTCT | intron_variant | MODIFIER | NA19030.hp2 NA20129.hp2 |
a0001a0002 | a0001c0003a0002c0016 | a0001c0003t0023a0002c0016t0004 | a0001c0003t0023g0030a0002c0016t0004g0024 | 2 | 40 | 0.0500 | 5 | c.177 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147537291 | T | TTACTC | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01891.hp1 others(23): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0018others(20): Show | a0001c0001t0001g0038a0001c0001t0006g0009a0001c0001t0018g0001others(23): Show | 26 | 40 | 0.6500 | 5 | c.177 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147654808 | C | CTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02897.hp1 NA20129.hp2 others(1): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0001a0001c0003t0023a0001c0010t0002others(1): Show | a0001c0002t0001g0008a0001c0003t0023g0030a0001c0010t0002g0014others(1): Show | 4 | 40 | 0.1000 | 5 | c.209 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147861999 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG03239.hp1 others(2): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0010others(2): Show | a0001c0001t0002a0001c0003t0023a0001c0010t0002others(2): Show | a0001c0001t0002g0006a0001c0003t0023g0030a0001c0010t0002g0014others(2): Show | 5 | 40 | 0.1250 | 5 | c.209 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147945840 | C | CTCTTT | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0006a0001c0001t0007a0001c0004t0003others(1): Show | a0001c0001t0006g0009a0001c0001t0007g0018a0001c0004t0003g0035others(2): Show | 5 | 40 | 0.1250 | 5 | c.225 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147992087 | C | CTTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02717.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0012a0001c0001t0018a0001c0002t0002others(6): Show | a0001c0001t0012g0034a0001c0001t0018g0001a0001c0002t0002g0013others(6): Show | 9 | 40 | 0.2250 | 5 | c.238 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148109351 | G | GTGTTT | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02451.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0038a0001c0001t0002g0006a0001c0001t0006g0009others(13): Show | 16 | 40 | 0.4000 | 5 | c.238 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148228827 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG02451.hp1 others(11): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0007a0001c0001t0012a0001c0002t0001others(10): Show | a0001c0001t0007g0020a0001c0001t0012g0034a0001c0002t0001g0007others(11): Show | 14 | 40 | 0.3500 | 5 | c.324 others(22): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148228829 | A | AAAAAC | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02896.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0018a0001c0002t0002others(4): Show | a0001c0001t0001g0003a0001c0001t0018g0001a0001c0002t0002g0013others(5): Show | 8 | 40 | 0.2000 | 5 | c.324 others(22): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148295388 | C | CAAAAG | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0007a0001c0003t0004a0001c0004t0003 | a0001c0001t0007g0018a0001c0003t0004g0029a0001c0004t0003g0035others(1): Show | 4 | 40 | 0.1000 | 5 | c.347 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148336551 | A | AAAAAG | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02630.hp2 others(20): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0012g0034others(20): Show | 23 | 40 | 0.5750 | 5 | c.347 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148354648 | C | CTCCCT | intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0010 | a0001c0001t0012g0034a0001c0002t0010g0002 | 2 | 40 | 0.0500 | 5 | c.347 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148355166 | C | CTTTTT | intron_variant | MODIFIER | HG02886.hp2 NA20129.hp1 NA20129.hp2 |
a0001 | a0001c0003a0001c0005a0001c0006 | a0001c0003t0023a0001c0005t0022a0001c0006t0009 | a0001c0003t0023g0030a0001c0005t0022g0032a0001c0006t0009g0028 | 3 | 40 | 0.0750 | 5 | c.347 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148356150 | T | TAATTA | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01891.hp2 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0002g0006others(35): Show | 38 | 40 | 0.9500 | 5 | c.347 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148403079 | A | ATCTGC | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02451.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0002g0006others(19): Show | 22 | 40 | 0.5500 | 5 | c.371 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148416888 | C | CTTAGT | 3_prime_UTR_variant | MODIFIER | HG02717.hp2 HG02886.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0013a0001c0005t0008 | a0001c0003t0013g0010a0001c0005t0008g0005 | 2 | 40 | 0.0500 | 5 | c.*12 others(16): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 24/24 | 1281 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CNTNAP3B_chr9_41885536_42134426 | 41888506 | C | CTAAAA | downstream_gene_variant | MODIFIER | HG02040.hp1 HG03239.hp1 NA18968.hp1 others(2): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0001t0003a0001c0012t0002 | a0001c0001t0002g0011a0001c0001t0002g0024a0001c0001t0003g0099others(2): Show | 5 | 108 | 0.0463 | 5 | c.*54 others(16): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 2029 | chr9 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41907618 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(29): Show |
a0001a0003a0005others(12): Show | a0001c0001a0001c0012a0003c0003others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(18): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0011others(29): Show | 32 | 108 | 0.2963 | 5 | c.322 others(22): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 19/23 | chr9 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41948368 | A | AGGCAT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(31): Show |
a0001a0006a0010others(3): Show | a0001c0001a0001c0012a0001c0042others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(31): Show | 34 | 108 | 0.3148 | 5 | c.208 others(24): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 13/23 | chr9 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41956702 | G | GGTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp2 |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0031a0004c0004t0005g0032 | 2 | 108 | 0.0185 | 5 | c.187 others(24): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 12/23 | chr9 | TogoVar | ||||||
CNTNAP3_chr9_39059710_39293167 | 39085706 | A | AGATTT | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0004 | a0001c0001t0003g0002a0002c0003t0004g0001 | 2 | 4 | 0.5000 | 5 | c.344 others(20): Show |
CNTNAP3 | ENSG00000106714.18 | transcript | ENST00000297668.11 | protein_coding | 21/23 | chr9 | TogoVar | ||||||
CNTNAP3_chr9_39059710_39293167 | 39092785 | T | TTATTC | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0004 | a0001c0001t0003g0002a0002c0003t0004g0001 | 2 | 4 | 0.5000 | 5 | c.299 others(24): Show |
CNTNAP3 | ENSG00000106714.18 | transcript | ENST00000297668.11 | protein_coding | 18/23 | chr9 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76365751 | C | CAAAAA | intron_variant | MODIFIER | HG01358.hp2 HG02109.hp2 HG02145.hp1 others(5): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(5): Show | a0001c0001t0001g0037a0001c0001t0004g0051a0001c0001t0020g0181others(5): Show | 8 | 274 | 0.0292 | 5 | c.390 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76402871 | T | TGTTGA | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0006 | a0001c0001t0004a0003c0003t0001a0003c0003t0006others(3): Show | a0001c0001t0004g0172a0003c0003t0001g0098a0003c0003t0001g0271others(7): Show | 10 | 274 | 0.0365 | 5 | c.391 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76456111 | A | ATTGAC | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp2 others(76): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0018a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(17): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0026others(76): Show | 79 | 274 | 0.2883 | 5 | c.133 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76484275 | G | GAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp2 others(75): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0026others(75): Show | 78 | 274 | 0.2847 | 5 | c.188 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76522687 | C | CTTTCT | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(6): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0004a0003c0006others(2): Show | a0001c0001t0001a0001c0004t0001a0003c0006t0001others(2): Show | a0001c0001t0001g0040a0001c0001t0001g0095a0001c0001t0001g0159others(6): Show | 9 | 274 | 0.0329 | 5 | c.275 others(22): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76525754 | C | CTTATA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(268): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0004a0001c0015others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0020others(268): Show | 271 | 274 | 0.9891 | 5 | c.275 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124044889 | A | ACACAC | intron_variant | MODIFIER | HG02145.hp2 HG02698.hp1 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0002c0008t0001 | a0001c0001t0002g0027a0002c0008t0001g0038 | 2 | 64 | 0.0313 | 5 | c.82+ others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124057448 | A | ATTTTT | intron_variant | MODIFIER | HG02293.hp2 HG02451.hp2 HG02698.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0002g0027a0001c0001t0004g0052a0001c0001t0009g0061others(5): Show | 8 | 64 | 0.1250 | 5 | c.82+ others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124145836 | A | AAAAAG | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01261.hp1 others(31): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0026others(31): Show | 34 | 64 | 0.5313 | 5 | c.83- others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124228665 | C | CATACT | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0007 | a0001c0001t0004g0052a0001c0002t0007g0009 | 2 | 64 | 0.0313 | 5 | c.187 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124255524 | A | AAAAAT | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02723.hp1 others(3): Show |
a0001a0002a0003 | a0001c0002a0002c0008a0003c0007 | a0001c0002t0001a0001c0002t0003a0001c0002t0016others(2): Show | a0001c0002t0001g0005a0001c0002t0001g0054a0001c0002t0003g0056others(3): Show | 6 | 64 | 0.0938 | 5 | c.381 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124255581 | A | AAATAG | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0007 | a0001c0001t0004g0052a0001c0002t0007g0009 | 2 | 64 | 0.0313 | 5 | c.381 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124322161 | T | TAATAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010a0001c0001t0002g0019a0001c0001t0002g0049 | 3 | 64 | 0.0469 | 5 | c.381 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124349874 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01891.hp2 HG02145.hp1 others(5): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0033a0001c0001t0003g0006others(5): Show | 8 | 64 | 0.1250 | 5 | c.382 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124419988 | C | CTTTCT | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0026a0001c0002t0001g0046others(4): Show | 7 | 64 | 0.1094 | 5 | c.529 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124485612 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp1 HG03098.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0043others(4): Show | 7 | 64 | 0.1094 | 5 | c.106 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124541179 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG02145.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0033a0001c0001t0002g0019a0001c0001t0002g0024others(14): Show | 17 | 64 | 0.2656 | 5 | c.164 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |