view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSMD1_chr8_2930361_4999914 | 3712400 | GACAGACA others(3): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0006 | a0001c0006t0060 | a0001c0006t0060g0103 | 1 | 126 | 0.0079 | -10 | c.932 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3729922 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0007 | a0007c0088 | a0007c0088t0076 | a0007c0088t0076g0057 | 1 | 126 | 0.0079 | -10 | c.932 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3729952 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0045 | a0001c0045t0012 | a0001c0045t0012g0010 | 1 | 126 | 0.0079 | -10 | c.932 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3733168 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01081.hp1 others(20): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0013others(20): Show | a0001c0001t0002g0102 a0001c0002t0002g0083 a0001c0003t0013g0026 others(20): Show |
23 | 126 | 0.1825 | -10 | c.931 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3772379 | TCATATAT others(3): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0027 | a0027c0023 | a0027c0023t0001 | a0027c0023t0001g0052 | 1 | 126 | 0.0079 | -10 | c.819 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3772439 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01071.hp1 HG01123.hp1 others(8): Show |
a0001a0002a0008others(2): Show | a0001c0004a0001c0061a0001c0094others(8): Show | a0001c0004t0063a0001c0061t0001a0001c0094t0002others(8): Show | a0001c0004t0063g0095 a0001c0061t0001g0021 a0001c0094t0002g0110 others(8): Show |
11 | 126 | 0.0873 | -10 | c.819 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3772632 | TATTTATA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01884.hp2 others(19): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0039a0001c0002t0028a0001c0004t0020others(19): Show | a0001c0001t0039g0017 a0001c0002t0028g0005 a0001c0004t0020g0086 others(19): Show |
22 | 126 | 0.1746 | -10 | c.819 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3777121 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp2 HG03139.hp1 others(4): Show |
a0001a0002a0010others(1): Show | a0001c0020a0002c0032a0002c0060others(4): Show | a0001c0020t0016a0002c0032t0050a0002c0060t0006others(4): Show | a0001c0020t0016g0065 a0002c0032t0050g0061 a0002c0060t0006g0094 others(4): Show |
7 | 126 | 0.0556 | -10 | c.819 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3817252 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp2 NA19043.hp1 |
a0001 | a0001c0004a0001c0093 | a0001c0004t0063a0001c0093t0009 | a0001c0004t0063g0095 a0001c0093t0009g0007 |
2 | 126 | 0.0159 | -10 | c.819 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3821500 | GAGCTGGG others(3): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01081.hp1 HG01123.hp2 others(11): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0002a0001c0003t0008a0001c0006t0002others(11): Show | a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0006t0002g0109 others(11): Show |
14 | 126 | 0.1111 | -10 | c.819 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3889452 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0074 | a0002c0074t0041 | a0002c0074t0041g0031 | 1 | 126 | 0.0079 | -10 | c.818 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3889484 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03098.hp2 HG03579.hp2 others(1): Show |
a0001a0003a0011others(1): Show | a0001c0006a0003c0058a0011c0110others(1): Show | a0001c0006t0060a0003c0058t0057a0011c0110t0074others(1): Show | a0001c0006t0060g0103 a0003c0058t0057g0117 a0011c0110t0074g0082 others(1): Show |
4 | 126 | 0.0318 | -10 | c.818 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3893339 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0076 | a0002c0076t0035 | a0002c0076t0035g0014 | 1 | 126 | 0.0079 | -10 | c.818 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3919184 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG02572.hp1 others(6): Show |
a0001a0002a0003others(6): Show | a0001c0026a0002c0084a0003c0014others(6): Show | a0001c0026t0006a0002c0084t0018a0003c0014t0055others(6): Show | a0001c0026t0006g0093 a0002c0084t0018g0087 a0003c0014t0055g0056 others(6): Show |
9 | 126 | 0.0714 | -10 | c.818 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3926014 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02886.hp2 others(2): Show |
a0001a0002a0007 | a0001c0045a0001c0093a0002c0051others(2): Show | a0001c0045t0012a0001c0093t0009a0002c0051t0006others(2): Show | a0001c0045t0012g0010 a0001c0093t0009g0007 a0002c0051t0006g0081 others(2): Show |
5 | 126 | 0.0397 | -10 | c.818 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3926082 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02280.hp1 HG02647.hp1 others(4): Show |
a0001a0002a0003 | a0001c0006a0001c0050a0001c0108others(4): Show | a0001c0006t0060a0001c0050t0053a0001c0108t0054others(4): Show | a0001c0006t0060g0103 a0001c0050t0053g0120 a0001c0108t0054g0074 others(4): Show |
7 | 126 | 0.0556 | -10 | c.818 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3940497 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01255.hp1 HG02622.hp1 others(6): Show |
a0001a0002a0023 | a0001c0085a0001c0093a0001c0094others(6): Show | a0001c0085t0020a0001c0093t0009a0001c0094t0002others(6): Show | a0001c0085t0020g0060 a0001c0093t0009g0007 a0001c0094t0002g0110 others(6): Show |
9 | 126 | 0.0714 | -10 | c.818 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3984704 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG02257.hp1 HG02886.hp2 |
a0002a0007a0025 | a0002c0078a0007c0088a0025c0096 | a0002c0078t0044a0007c0088t0076a0025c0096t0067 | a0002c0078t0044g0064 a0007c0088t0076g0057 a0025c0096t0067g0116 |
3 | 126 | 0.0238 | -10 | c.818 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3984743 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02559.hp2 NA18982.hp1 |
a0001a0004 | a0001c0043a0004c0086 | a0001c0043t0031a0004c0086t0002 | a0001c0043t0031g0044 a0004c0086t0002g0118 |
2 | 126 | 0.0159 | -10 | c.818 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4036956 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0021 | a0001c0021t0005 | a0001c0021t0005g0012 | 1 | 126 | 0.0079 | -10 | c.416 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4048031 | CTAAAATG others(3): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0031 | a0002c0031t0015 | a0002c0031t0015g0001 | 1 | 126 | 0.0079 | -10 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4078891 | TAATAAAT others(3): Show |
T | intron_variant | MODIFIER | HG03225.hp1 HG03540.hp2 |
a0001a0009 | a0001c0017a0009c0113 | a0001c0017t0005a0009c0113t0011 | a0001c0017t0005g0003 a0009c0113t0011g0043 |
2 | 126 | 0.0159 | -10 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4078896 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0011 | a0011c0110 | a0011c0110t0074 | a0011c0110t0074g0082 | 1 | 126 | 0.0079 | -10 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4108039 | GAAAGAGA others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03209.hp1 others(2): Show |
a0001a0002a0017others(2): Show | a0001c0020a0002c0022a0017c0106others(2): Show | a0001c0020t0016a0002c0022t0036a0017c0106t0012others(2): Show | a0001c0020t0016g0065 a0002c0022t0036g0048 a0017c0106t0012g0042 others(2): Show |
5 | 126 | 0.0397 | -10 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4135338 | GAAGGAAG others(3): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00735.hp2 others(68): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0061others(68): Show | a0001c0001t0002g0125 a0001c0002t0002g0083 a0001c0002t0061g0069 others(68): Show |
71 | 126 | 0.5635 | -10 | c.416 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4135412 | GGGGGAAG others(3): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0050 | a0001c0050t0053 | a0001c0050t0053g0120 | 1 | 126 | 0.0079 | -10 | c.416 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4138044 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01243.hp1 others(13): Show |
a0001a0002a0003others(6): Show | a0001c0007a0001c0079a0001c0085others(13): Show | a0001c0007t0032a0001c0079t0072a0001c0085t0020others(13): Show | a0001c0007t0032g0033 a0001c0079t0072g0113 a0001c0085t0020g0060 others(13): Show |
16 | 126 | 0.1270 | -10 | c.416 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4146592 | ACATTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03516.hp1 |
a0003a0006 | a0003c0014a0006c0083 | a0003c0014t0055a0006c0083t0004 | a0003c0014t0055g0056 a0006c0083t0004g0006 |
2 | 126 | 0.0159 | -10 | c.416 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4201540 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00735.hp1 others(19): Show |
a0001a0002a0004others(7): Show | a0001c0006a0001c0017a0001c0021others(19): Show | a0001c0006t0002a0001c0017t0005a0001c0021t0005others(19): Show | a0001c0006t0002g0109 a0001c0017t0005g0003 a0001c0021t0005g0012 others(19): Show |
22 | 126 | 0.1746 | -10 | c.416 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4226067 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02055.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0114a0002c0035others(6): Show | a0001c0004t0063a0001c0114t0003a0002c0035t0047others(6): Show | a0001c0004t0063g0095 a0001c0114t0003g0119 a0002c0035t0047g0076 others(6): Show |
9 | 126 | 0.0714 | -10 | c.415 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4295750 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 NA18906.hp2 |
a0001a0008a0030 | a0001c0004a0008c0067a0030c0052 | a0001c0004t0063a0008c0067t0059a0030c0052t0049 | a0001c0004t0063g0095 a0008c0067t0059g0079 a0030c0052t0049g0098 |
3 | 126 | 0.0238 | -10 | c.415 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4295779 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01243.hp1 others(28): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0003a0001c0005others(27): Show | a0001c0002t0061a0001c0003t0013a0001c0003t0019others(28): Show | a0001c0002t0061g0069 a0001c0003t0013g0026 a0001c0003t0019g0107 others(28): Show |
31 | 126 | 0.2460 | -10 | c.415 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4303420 | CTGTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0006 | a0001c0006t0060 | a0001c0006t0060g0103 | 1 | 126 | 0.0079 | -10 | c.415 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4303422 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02683.hp1 NA19240.hp1 |
a0001 | a0001c0021a0001c0085 | a0001c0021t0005a0001c0085t0020 | a0001c0021t0005g0012 a0001c0085t0020g0060 |
2 | 126 | 0.0159 | -10 | c.415 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4332598 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02922.hp1 HG06807.hp2 |
a0001a0015 | a0001c0039a0001c0068a0015c0062 | a0001c0039t0066a0001c0068t0015a0015c0062t0056 | a0001c0039t0066g0080 a0001c0068t0015g0049 a0015c0062t0056g0062 |
3 | 126 | 0.0238 | -10 | c.415 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4354865 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0050 | a0001c0050t0053 | a0001c0050t0053g0120 | 1 | 126 | 0.0079 | -10 | c.415 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4387570 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG02055.hp1 HG02486.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0047a0001c0111others(5): Show | a0001c0002t0061a0001c0047t0014a0001c0111t0045others(5): Show | a0001c0002t0061g0069 a0001c0047t0014g0024 a0001c0111t0045g0063 others(5): Show |
8 | 126 | 0.0635 | -10 | c.415 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4388311 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02886.hp1 NA19090.hp1 |
a0001 | a0001c0039a0001c0102 | a0001c0039t0066a0001c0102t0005 | a0001c0039t0066g0080 a0001c0102t0005g0034 |
2 | 126 | 0.0159 | -10 | c.415 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4411989 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG02451.hp1 HG02622.hp1 others(2): Show |
a0001a0002a0015 | a0001c0039a0001c0047a0002c0030others(2): Show | a0001c0039t0066a0001c0047t0014a0002c0030t0016others(2): Show | a0001c0039t0066g0080 a0001c0047t0014g0024 a0002c0030t0016g0122 others(2): Show |
5 | 126 | 0.0397 | -10 | c.415 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4444346 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01071.hp1 HG01074.hp2 others(16): Show |
a0001a0002a0004others(6): Show | a0001c0005a0001c0006a0001c0007others(16): Show | a0001c0005t0002a0001c0006t0060a0001c0007t0001others(16): Show | a0001c0005t0002g0111 a0001c0006t0060g0103 a0001c0007t0001g0035 others(16): Show |
19 | 126 | 0.1508 | -10 | c.303 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4446745 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0031 | a0031c0069 | a0031c0069t0043 | a0031c0069t0043g0100 | 1 | 126 | 0.0079 | -10 | c.303 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4446755 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG02886.hp1 others(4): Show |
a0001a0004a0006others(2): Show | a0001c0007a0001c0039a0001c0102others(4): Show | a0001c0007t0001a0001c0039t0066a0001c0102t0005others(4): Show | a0001c0007t0001g0035 a0001c0039t0066g0080 a0001c0102t0005g0034 others(4): Show |
7 | 126 | 0.0556 | -10 | c.303 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4453216 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0115 | a0001c0115t0042 | a0001c0115t0042g0055 | 1 | 126 | 0.0079 | -10 | c.303 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4455929 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02486.hp1 HG03710.hp2 others(1): Show |
a0001a0022a0037 | a0001c0001a0001c0005a0022c0013others(1): Show | a0001c0001t0002a0001c0005t0007a0022c0013t0007others(1): Show | a0001c0001t0002g0125 a0001c0005t0007g0070 a0022c0013t0007g0112 others(1): Show |
4 | 126 | 0.0318 | -10 | c.303 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4565749 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02055.hp2 HG02056.hp1 others(2): Show |
a0001a0003a0005 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0002a0001c0004t0020a0001c0005t0007others(2): Show | a0001c0002t0002g0083 a0001c0004t0020g0086 a0001c0005t0007g0070 others(2): Show |
5 | 126 | 0.0397 | -10 | c.302 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4682955 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00735.hp2 others(51): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(47): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0002others(51): Show | a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0002g0083 others(51): Show |
54 | 126 | 0.4286 | -10 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4723791 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA18522.hp2 |
a0002a0009 | a0002c0072a0009c0113 | a0002c0072t0003a0009c0113t0011 | a0002c0072t0003g0066 a0009c0113t0011g0043 |
2 | 126 | 0.0159 | -10 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4724520 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG03017.hp2 HG04228.hp1 |
a0001a0036 | a0001c0001a0036c0100 | a0001c0001t0002a0036c0100t0017 | a0001c0001t0002g0125 a0036c0100t0017g0121 |
2 | 126 | 0.0159 | -10 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4753403 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0043 | a0001c0043t0031 | a0001c0043t0031g0044 | 1 | 126 | 0.0079 | -10 | c.86- others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4795252 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 |
a0003a0037 | a0003c0057a0037c0101 | a0003c0057t0080a0037c0101t0008 | a0003c0057t0080g0075 a0037c0101t0008g0023 |
2 | 126 | 0.0159 | -10 | c.86- others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar |