| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CNTNAP3B_chr9_41885536_42134426 | 42025442 | CCTGTTCC others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp2 HG03490.hp1 others(3): Show |
a0004a0028 | a0004c0004a0028c0027 | a0004c0004t0005a0028c0027t0005 | a0004c0004t0005g0029a0004c0004t0005g0030a0004c0004t0005g0031others(3): Show | 6 | 108 | 0.0556 | -8 | c.391 others(27): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | ||||||
| CNTNAP3B_chr9_41885536_42134426 | 42030750 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG03704.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0003g0093 | 3 | 108 | 0.0278 | -8 | c.391 others(27): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | ||||||
| CNTNAP3B_chr9_41885536_42134426 | 42102056 | GATAAATA others(1): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02886.hp2 HG03453.hp1 |
a0008 | a0008c0006 | a0008c0006t0010 | a0008c0006t0010g0069a0008c0006t0010g0070a0008c0006t0010g0071 | 3 | 108 | 0.0278 | -8 | c.196 others(25): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 2/23 | chr9 | TogoVar | ||||||
| CNTNAP3B_chr9_41885536_42134426 | 42134372 | GAAACAAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02135.hp1 HG02145.hp2 others(2): Show |
a0001a0006a0009 | a0001c0001a0006c0007a0009c0008 | a0001c0001t0002a0001c0001t0003a0006c0007t0011others(1): Show | a0001c0001t0002g0005a0001c0001t0002g0022a0001c0001t0003g0093others(2): Show | 5 | 108 | 0.0463 | -8 | c.-52 others(19): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 4947 | chr9 | TogoVar | ||||||
| CNTNAP3_chr9_39059710_39293167 | 39209690 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0002 | a0001c0001t0003a0002c0003t0004a0004c0002t0001 | a0001c0001t0003g0002a0002c0003t0004g0001a0004c0002t0001g0003 | 3 | 4 | 0.7500 | -8 | c.391 others(27): Show |
CNTNAP3 | ENSG00000106714.18 | transcript | ENST00000297668.11 | protein_coding | 3/23 | chr9 | TogoVar | ||||||
| CNTNAP3_chr9_39059710_39293167 | 39253014 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0004 | a0001c0001t0003g0002a0002c0003t0004g0001 | 2 | 4 | 0.5000 | -8 | c.197 others(27): Show |
CNTNAP3 | ENSG00000106714.18 | transcript | ENST00000297668.11 | protein_coding | 2/23 | chr9 | TogoVar | ||||||
| CNTNAP4_chr16_76272401_76565757 | 76274706 | TTTGTTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02486.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0004a0002c0002t0002a0003c0003t0006others(1): Show | a0001c0001t0004g0051a0001c0001t0004g0053a0002c0002t0002g0206others(2): Show | 5 | 274 | 0.0183 | -8 | c.-29 others(19): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 2694 | chr16 | TogoVar | ||||||
| CNTNAP4_chr16_76272401_76565757 | 76286174 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp1 HG02559.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0003g0015others(18): Show | 21 | 274 | 0.0766 | -8 | c.85+ others(23): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76298481 | CATGTATG others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG03139.hp2 others(1): Show |
a0002a0003a0006 | a0002c0014a0003c0003a0003c0028others(1): Show | a0002c0014t0013a0003c0003t0006a0003c0028t0005others(1): Show | a0002c0014t0013g0054a0003c0003t0006g0264a0003c0028t0005g0274others(1): Show | 4 | 274 | 0.0146 | -8 | c.86- others(25): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 1/23 | chr16 | TogoVar | ||||||
| CNTNAP4_chr16_76272401_76565757 | 76298523 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00642.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0076others(13): Show | 16 | 274 | 0.0584 | -8 | c.86- others(25): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76355840 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp2 others(53): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(23): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0024others(53): Show | 56 | 274 | 0.2044 | -8 | c.390 others(23): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76385547 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03540.hp2 NA19030.hp1 |
a0002a0003 | a0002c0012a0003c0003a0003c0028 | a0002c0012t0002a0003c0003t0027a0003c0028t0005 | a0002c0012t0002g0048a0003c0003t0027g0237a0003c0028t0005g0274 | 3 | 274 | 0.0110 | -8 | c.390 others(27): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76397938 | TTATATAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01074.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0014others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(6): Show | a0001c0001t0001g0026a0001c0001t0001g0092a0001c0001t0003g0100others(8): Show | 11 | 274 | 0.0402 | -8 | c.391 others(27): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76483231 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(60): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0015others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(35): Show | a0001c0001t0001g0195a0001c0001t0004g0053a0001c0001t0004g0172others(60): Show | 63 | 274 | 0.2299 | -8 | c.188 others(27): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76486286 | ATAAAAGT others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp2 HG01884.hp1 others(23): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0015a0002c0002others(11): Show | a0001c0001t0005a0001c0015t0006a0002c0002t0002others(16): Show | a0001c0001t0005g0163a0001c0015t0006g0166a0002c0002t0002g0128others(23): Show | 26 | 274 | 0.0949 | -8 | c.188 others(27): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76500754 | CCATATAT others(1): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02970.hp2 HG03098.hp2 |
a0002a0003a0004 | a0002c0002a0003c0006a0004c0007 | a0002c0002t0024a0003c0006t0021a0004c0007t0002 | a0002c0002t0024g0049a0003c0006t0021g0001a0004c0007t0002g0208 | 3 | 274 | 0.0110 | -8 | c.236 others(27): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76522693 | TTTCTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01069.hp1 others(5): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0009 | a0001c0001t0001a0001c0001t0003a0001c0004t0003others(1): Show | a0001c0001t0001g0017a0001c0001t0003g0015a0001c0001t0003g0118others(5): Show | 8 | 274 | 0.0292 | -8 | c.275 others(25): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124042783 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0023 | 2 | 64 | 0.0313 | -8 | c.82+ others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124044889 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02723.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0026others(11): Show | 14 | 64 | 0.2188 | -8 | c.82+ others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124100699 | CTACAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02293.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0033a0001c0001t0002g0027others(14): Show | 17 | 64 | 0.2656 | -8 | c.82+ others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124178907 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02717.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0009a0001c0001t0014a0001c0002t0001others(3): Show | a0001c0001t0009g0061a0001c0001t0014g0037a0001c0002t0001g0005others(3): Show | 6 | 64 | 0.0938 | -8 | c.83- others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124194404 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG02145.hp2 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0015a0001c0001t0018a0001c0002t0001others(4): Show | a0001c0001t0015g0036a0001c0001t0018g0021a0001c0002t0001g0054others(4): Show | 7 | 64 | 0.1094 | -8 | c.83- others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124235940 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01261.hp2 others(21): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0010a0001c0001t0001g0026a0001c0001t0002g0024others(21): Show | 24 | 64 | 0.3750 | -8 | c.188 others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124249985 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02293.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0050a0001c0001t0018g0021 | 2 | 64 | 0.0313 | -8 | c.381 others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124264381 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02698.hp2 NA20129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0020a0001c0001t0001g0043a0001c0001t0005g0040others(1): Show | 4 | 64 | 0.0625 | -8 | c.381 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124271697 | CTATCATC others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp2 HG02451.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0003g0057others(7): Show | 10 | 64 | 0.1563 | -8 | c.381 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | chr2 | TogoVar | ||||||
| CNTNAP5_chr2_124020287_124926219 | 124312559 | ATTTGTTT others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG02293.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0050a0001c0001t0003g0006a0001c0002t0001g0003 | 3 | 64 | 0.0469 | -8 | c.381 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124419896 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG02451.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0001a0001c0002t0004 | a0001c0001t0013g0041a0001c0002t0001g0003a0001c0002t0001g0046others(2): Show | 5 | 64 | 0.0781 | -8 | c.529 others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124510477 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG03139.hp1 HG03471.hp2 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0005a0001c0002t0012a0003c0007t0001 | a0001c0002t0005g0045a0001c0002t0012g0018a0003c0007t0001g0017 | 3 | 64 | 0.0469 | -8 | c.132 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124516858 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03225.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0011others(1): Show | a0001c0002t0001g0062a0001c0002t0006g0028a0001c0002t0011g0029others(1): Show | 4 | 64 | 0.0625 | -8 | c.132 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124567835 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0004a0003c0007t0001 | a0001c0002t0004g0044a0003c0007t0001g0017 | 2 | 64 | 0.0313 | -8 | c.175 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124588153 | TCCTTTTC others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG02897.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0007g0039 | 3 | 64 | 0.0469 | -8 | c.175 others(29): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | chr2 | TogoVar | ||||||
| CNTNAP5_chr2_124020287_124926219 | 124588177 | CTTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01261.hp1 HG02698.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0027a0001c0001t0002g0049a0001c0001t0003g0006others(5): Show | 8 | 64 | 0.1250 | -8 | c.175 others(29): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124600761 | GAGAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01261.hp2 HG02451.hp2 others(9): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0026others(9): Show | 12 | 64 | 0.1875 | -8 | c.175 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124619842 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02717.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0008 | a0001c0002t0001g0003a0001c0002t0002g0031a0001c0002t0008g0058 | 3 | 64 | 0.0469 | -8 | c.187 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124620745 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp2 NA18906.hp2 NA19240.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0004a0001c0002t0001a0002c0008t0001 | a0001c0001t0004g0053a0001c0002t0001g0064a0002c0008t0001g0038 | 3 | 64 | 0.0469 | -8 | c.187 others(29): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124655923 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA19000.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0004a0004c0006t0001 | a0001c0001t0004g0052a0004c0006t0001g0013 | 2 | 64 | 0.0313 | -8 | c.207 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124660043 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02717.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(2): Show | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0005g0040others(3): Show | 6 | 64 | 0.0938 | -8 | c.207 others(29): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124670215 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02145.hp1 HG02145.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0033a0001c0001t0002g0024others(16): Show | 19 | 64 | 0.2969 | -8 | c.207 others(29): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124674509 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020a0001c0001t0002g0049 | 2 | 64 | 0.0313 | -8 | c.207 others(29): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124713318 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG02293.hp2 HG02897.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0020a0001c0002t0001 | a0001c0001t0002g0024a0001c0001t0020g0014a0001c0002t0001g0007 | 3 | 64 | 0.0469 | -8 | c.207 others(29): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124777775 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG02145.hp2 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0026others(10): Show | 13 | 64 | 0.2031 | -8 | c.275 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124786344 | AAAGAAAG others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0019 | a0001c0001t0017g0012a0001c0002t0019g0051 | 2 | 64 | 0.0313 | -8 | c.275 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124786398 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0007a0001c0002t0006g0028 | 2 | 64 | 0.0313 | -8 | c.275 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124809380 | GTATTTAT others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01261.hp1 HG01261.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0043others(21): Show | 24 | 64 | 0.3750 | -8 | c.321 others(29): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124814531 | CTTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02293.hp1 HG02698.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0027a0001c0001t0002g0050a0001c0002t0001g0003 | 3 | 64 | 0.0469 | -8 | c.321 others(29): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | chr2 | TogoVar | ||||||
| CNTNAP5_chr2_124020287_124926219 | 124856075 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG02717.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0013a0001c0001t0015others(3): Show | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0013g0041others(4): Show | 7 | 64 | 0.1094 | -8 | c.321 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124860452 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01261.hp2 HG02698.hp2 others(6): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0026a0001c0001t0002g0024others(6): Show | 9 | 64 | 0.1406 | -8 | c.321 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124860496 | CTTCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG03130.hp1 homoSapiens_chm13v2.hp1 |
a0001a0006 | a0001c0001a0006c0003 | a0001c0001t0001a0006c0003t0008 | a0001c0001t0001g0043a0006c0003t0008g0035 | 2 | 64 | 0.0313 | -8 | c.321 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124872374 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG02886.hp2 HG02970.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0043a0001c0001t0004g0053others(6): Show | 9 | 64 | 0.1406 | -8 | c.343 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |