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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN5_chr11_99015949_100363885 | 99359610 | AATAAATA others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02886.hp2 HG02895.hp1 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0006a0001c0001t0010a0002c0002t0005others(4): Show | a0001c0001t0006g0040a0001c0001t0010g0023a0002c0002t0005g0015others(4): Show | 7 | 66 | 0.1061 | -18 | c.-71 others(37): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99408430 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG02895.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0001t0001g0052a0002c0002t0003g0036a0002c0002t0003g0037others(2): Show | 5 | 66 | 0.0758 | -18 | c.-71 others(37): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99422516 | TTTTATAT others(11): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG01934.hp2 |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0002a0006c0006t0001 | a0003c0003t0002g0011a0006c0006t0001g0005 | 2 | 66 | 0.0303 | -18 | c.-71 others(37): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99422518 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02976.hp2 NA18522.hp2 |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0007a0005c0005t0001a0005c0005t0018 | a0003c0003t0007g0057a0005c0005t0001g0017a0005c0005t0018g0028 | 3 | 66 | 0.0455 | -18 | c.-71 others(37): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99934898 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG02109.hp2 others(4): Show |
a0001a0007a0011 | a0001c0001a0007c0007a0011c0009 | a0001c0001t0003a0001c0001t0009a0001c0001t0015others(2): Show | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0060others(4): Show | 7 | 66 | 0.1061 | -18 | c.673 others(37): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99934931 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp1 HG02602.hp1 others(2): Show |
a0001a0006a0010 | a0001c0001a0006c0006a0010c0010 | a0001c0001t0004a0001c0001t0006a0006c0006t0009others(1): Show | a0001c0001t0004g0044a0001c0001t0006g0032a0001c0001t0006g0066others(2): Show | 5 | 66 | 0.0758 | -18 | c.673 others(37): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 100099554 | AACTACAC others(11): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG02258.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0003a0005c0005t0003 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0060others(1): Show | 4 | 66 | 0.0606 | -18 | c.158 others(39): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 13/24 | chr11 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 100241549 | CCTTTTGG others(11): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG02723.hp1 others(2): Show |
a0001a0011 | a0001c0001a0011c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0008a0001c0001t0004g0010a0001c0001t0006g0040others(2): Show | 5 | 66 | 0.0758 | -18 | c.200 others(39): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1202541 | AAAAAATA others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00639.hp1 others(23): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0013a0001c0001t0001g0027a0001c0001t0001g0067others(23): Show | 26 | 232 | 0.1121 | -18 | c.56- others(35): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1202545 | AATAAATA others(11): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01167.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0035a0001c0001t0001g0086others(53): Show | 56 | 232 | 0.2414 | -18 | c.56- others(35): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1212479 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00741.hp1 others(50): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(8): Show | a0001c0001t0001g0024a0001c0001t0001g0033a0001c0001t0001g0035others(50): Show | 53 | 232 | 0.2285 | -18 | c.56- others(33): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1300567 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0220 | 1 | 232 | 0.0043 | -18 | c.761 others(35): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1300587 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0222 | 1 | 232 | 0.0043 | -18 | c.761 others(35): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146155685 | CATTATTA others(11): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0004t0005a0001c0010t0002others(1): Show | a0001c0001t0001g0003a0001c0004t0005g0004a0001c0010t0002g0014others(1): Show | 4 | 40 | 0.1000 | -18 | c.97+ others(35): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146622261 | ATCTATCT others(11): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG03139.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0016others(1): Show | a0001c0001t0001g0038a0001c0002t0001g0008a0001c0011t0016g0019others(1): Show | 4 | 40 | 0.1000 | -18 | c.98- others(37): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146760409 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0028 | 1 | 40 | 0.0250 | -18 | c.98- others(35): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146851650 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02486.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0007a0001c0001t0018a0001c0019t0006 | a0001c0001t0007g0020a0001c0001t0018g0001a0001c0019t0006g0015 | 3 | 40 | 0.0750 | -18 | c.402 others(37): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146855807 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG03139.hp2 |
a0001a0004 | a0001c0006a0001c0011a0004c0014 | a0001c0006t0014a0001c0011t0016a0004c0014t0021 | a0001c0006t0014g0033a0001c0011t0016g0019a0004c0014t0021g0022 | 3 | 40 | 0.0750 | -18 | c.402 others(37): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147033160 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG02886.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0018a0001c0003t0013a0001c0006t0014others(2): Show | a0001c0001t0018g0001a0001c0003t0013g0010a0001c0006t0014g0033others(2): Show | 5 | 40 | 0.1250 | -18 | c.403 others(37): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147104873 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001 | a0001c0001t0012g0034a0001c0002t0001g0007 | 2 | 40 | 0.0500 | -18 | c.551 others(35): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147347423 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0006a0001c0002t0001g0021 | 2 | 40 | 0.0500 | -18 | c.149 others(39): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147438387 | CATTCTGT others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0033 | 1 | 40 | 0.0250 | -18 | c.167 others(39): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147583503 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0017 | a0002c0017t0015 | a0002c0017t0015g0037 | 1 | 40 | 0.0250 | -18 | c.189 others(39): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147784494 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 40 | 0.0250 | -18 | c.209 others(41): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147902796 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0019 | a0001c0001t0007a0001c0004t0003a0001c0019t0006 | a0001c0001t0007g0018a0001c0004t0003g0035a0001c0004t0003g0036others(1): Show | 4 | 40 | 0.1000 | -18 | c.209 others(35): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148369180 | CCTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0039 | 1 | 40 | 0.0250 | -18 | c.347 others(39): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | chr7 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41900741 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp2 HG02083.hp1 others(8): Show |
a0002a0004a0006others(4): Show | a0002c0002a0004c0004a0006c0007others(4): Show | a0002c0002t0001a0004c0004t0005a0006c0007t0002others(4): Show | a0002c0002t0001g0049a0004c0004t0005g0029a0004c0004t0005g0030others(8): Show | 11 | 108 | 0.1019 | -18 | c.344 others(37): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 21/23 | chr9 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 42030750 | CAGAGAGA others(11): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0011 | a0003c0011t0004 | a0003c0011t0004g0074 | 1 | 108 | 0.0093 | -18 | c.391 others(37): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76376907 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG03098.hp1 HG03139.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0002c0002t0028a0003c0003t0007 | a0001c0001t0003g0223a0002c0002t0028g0239a0003c0003t0007g0260 | 3 | 274 | 0.0110 | -18 | c.390 others(37): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76397938 | TTATATAC others(11): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG02896.hp2 HG02897.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0005a0001c0001t0009a0001c0004t0001others(7): Show | a0001c0001t0005g0046a0001c0001t0009g0189a0001c0004t0001g0122others(8): Show | 11 | 274 | 0.0402 | -18 | c.391 others(37): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76506564 | GGGTTCAA others(11): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02630.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0005a0001c0001t0010a0002c0002t0004others(3): Show | a0001c0001t0005g0046a0001c0001t0005g0202a0001c0001t0010g0250others(4): Show | 7 | 274 | 0.0256 | -18 | c.236 others(37): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124044889 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03130.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0018a0001c0002t0003others(1): Show | a0001c0001t0004g0052a0001c0001t0018g0021a0001c0002t0003g0056others(1): Show | 4 | 64 | 0.0625 | -18 | c.82+ others(35): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124194394 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02698.hp1 HG03139.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0026a0001c0001t0002g0027a0001c0002t0001g0046others(4): Show | 7 | 64 | 0.1094 | -18 | c.83- others(35): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124211511 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 64 | 0.0156 | -18 | c.83- others(35): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124245651 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG02145.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0033a0001c0001t0002g0019others(19): Show | 22 | 64 | 0.3438 | -18 | c.381 others(35): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124297810 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02970.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0013a0001c0002t0005others(1): Show | a0001c0001t0001g0033a0001c0001t0013g0041a0001c0002t0005g0045others(1): Show | 4 | 64 | 0.0625 | -18 | c.381 others(37): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124619842 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02897.hp1 HG03139.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0009a0001c0002t0019 | a0001c0001t0007g0039a0001c0001t0009g0061a0001c0002t0019g0051 | 3 | 64 | 0.0469 | -18 | c.187 others(37): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124619908 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01069.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0043others(11): Show | 14 | 64 | 0.2188 | -18 | c.187 others(38): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124655939 | GAGAGAGA others(11): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031 | 1 | 64 | 0.0156 | -18 | c.207 others(37): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124674496 | CCTTTCTT others(11): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 64 | 0.0156 | -18 | c.207 others(39): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124702346 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 64 | 0.0156 | -18 | c.207 others(39): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124707140 | GGAAGAAG others(11): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG02698.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0026a0001c0001t0002g0024a0001c0001t0002g0027others(2): Show | 5 | 64 | 0.0781 | -18 | c.207 others(39): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124713225 | TTCTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 64 | 0.0156 | -18 | c.207 others(39): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43691459 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 384 | 0.0026 | -18 | c.-39 others(37): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA8_chr14_103557960_103595896 | 103594289 | AGGGAAAG others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(126): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0018others(113): Show | 129 | 382 | 0.3377 | -18 | c.*40 others(29): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 3394 | chr14 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164725117 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01261.hp1 others(19): Show |
a0001a0003a0008others(2): Show | a0001c0002a0003c0007a0008c0011others(2): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0010others(12): Show | a0001c0002t0001g0051a0001c0002t0005g0158a0001c0002t0010g0017others(19): Show | 22 | 212 | 0.1038 | -18 | c.662 others(35): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164822734 | ATATTATT others(11): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp2 HG02109.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0043others(6): Show | a0001c0001t0001g0045a0001c0001t0018g0167a0001c0001t0018g0168others(7): Show | 10 | 212 | 0.0472 | -18 | c.41+ others(35): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51011216 | GGCCACAG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01074.hp1 others(9): Show |
a0002 | a0002c0003a0002c0007a0002c0019 | a0002c0003t0001a0002c0007t0001a0002c0019t0001 | a0002c0003t0001g0023a0002c0003t0001g0091a0002c0003t0001g0092others(9): Show | 12 | 230 | 0.0522 | -18 | c.*63 others(29): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 4995 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018905 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp2 | a0004 | a0004c0063 | a0004c0063t0001 | a0004c0063t0001g0020 | 1 | 230 | 0.0044 | -18 | c.376 others(37): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51108940 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(99): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0004a0001c0015others(36): Show | a0001c0002t0002a0001c0004t0001a0001c0015t0006others(50): Show | a0001c0002t0002g0027a0001c0002t0002g0122a0001c0004t0001g0119others(99): Show | 102 | 230 | 0.4435 | -18 | c.958 others(37): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar |