| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CSMD1_chr8_2930361_4999914 | 3182578 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01071.hp2 HG01081.hp2 others(16): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0033others(16): Show | a0001c0001t0002a0001c0004t0020a0001c0033t0003others(16): Show | a0001c0001t0002g0125a0001c0004t0020g0086a0001c0033t0003g0059others(16): Show | 19 | 126 | 0.1508 | -8 | c.562 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 36/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3188756 | CCAGTATA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG01243.hp2 others(6): Show |
a0001a0004a0028others(2): Show | a0001c0002a0001c0094a0001c0108others(6): Show | a0001c0002t0002a0001c0094t0002a0001c0108t0054others(6): Show | a0001c0002t0002g0083a0001c0094t0002g0110a0001c0108t0054g0074others(6): Show | 9 | 126 | 0.0714 | -8 | c.552 others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 35/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3209291 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG02451.hp1 others(2): Show |
a0001a0002a0032others(1): Show | a0001c0073a0002c0051a0002c0078others(2): Show | a0001c0073t0007a0002c0051t0006a0002c0078t0044others(2): Show | a0001c0073t0007g0108a0002c0051t0006g0081a0002c0078t0044g0064others(2): Show | 5 | 126 | 0.0397 | -8 | c.486 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 30/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3262184 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG06807.hp1 |
a0002 | a0002c0035a0002c0089 | a0002c0035t0047a0002c0089t0001 | a0002c0035t0047g0076a0002c0089t0001g0037 | 2 | 126 | 0.0159 | -8 | c.415 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3270046 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG03017.hp2 NA18979.hp2 others(3): Show |
a0001a0036a0039 | a0001c0003a0001c0005a0001c0080others(3): Show | a0001c0003t0013a0001c0005t0002a0001c0080t0040others(3): Show | a0001c0003t0013g0026a0001c0005t0002g0111a0001c0080t0040g0025others(3): Show | 6 | 126 | 0.0476 | -8 | c.415 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3280194 | AGAGTAGT others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02074.hp2 HG02129.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0073others(2): Show | a0001c0001t0002a0001c0007t0032a0001c0073t0007others(2): Show | a0001c0001t0002g0102a0001c0007t0032g0033a0001c0073t0007g0108others(2): Show | 5 | 126 | 0.0397 | -8 | c.415 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3383098 | ACCACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01071.hp1 others(57): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0004others(52): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0002others(56): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0001t0039g0017others(57): Show | 60 | 126 | 0.4762 | -8 | c.278 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 18/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3412095 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03130.hp2 |
a0002a0018 | a0002c0053a0018c0044 | a0002c0053t0022a0018c0044t0064 | a0002c0053t0022g0041a0018c0044t0064g0085 | 2 | 126 | 0.0159 | -8 | c.156 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3412157 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG02886.hp1 others(1): Show |
a0001a0002a0004 | a0001c0039a0001c0049a0002c0048others(1): Show | a0001c0039t0066a0001c0049t0002a0002c0048t0013others(1): Show | a0001c0039t0066g0080a0001c0049t0002g0071a0002c0048t0013g0015others(1): Show | 4 | 126 | 0.0318 | -8 | c.156 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3494554 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01074.hp1 others(40): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0008others(40): Show | a0001c0001t0002g0125a0001c0002t0002g0083a0001c0003t0008g0053others(40): Show | 43 | 126 | 0.3413 | -8 | c.134 others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3497401 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01081.hp2 others(24): Show |
a0001a0002a0004others(7): Show | a0001c0007a0001c0019a0001c0020others(24): Show | a0001c0007t0032a0001c0019t0078a0001c0020t0016others(24): Show | a0001c0007t0032g0033a0001c0019t0078g0105a0001c0020t0016g0065others(24): Show | 27 | 126 | 0.2143 | -8 | c.134 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3556516 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02572.hp2 others(7): Show |
a0001a0002a0007others(3): Show | a0001c0017a0001c0020a0002c0070others(7): Show | a0001c0017t0005a0001c0020t0016a0002c0070t0046others(7): Show | a0001c0017t0005g0003a0001c0020t0016g0065a0002c0070t0046g0092others(7): Show | 10 | 126 | 0.0794 | -8 | c.134 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3591786 | TAGATGGA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01243.hp1 others(3): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0019a0005c0064others(3): Show | a0001c0001t0039a0001c0019t0078a0005c0064t0051others(3): Show | a0001c0001t0039g0017a0001c0019t0078g0105a0005c0064t0051g0078others(3): Show | 6 | 126 | 0.0476 | -8 | c.109 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3671560 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02280.hp1 others(4): Show |
a0001a0002a0012others(2): Show | a0001c0114a0002c0022a0002c0053others(4): Show | a0001c0114t0003a0002c0022t0036a0002c0053t0022others(4): Show | a0001c0114t0003g0119a0002c0022t0036g0048a0002c0053t0022g0041others(4): Show | 7 | 126 | 0.0556 | -8 | c.100 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3703436 | TTTCATTC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01074.hp1 others(37): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(35): Show | a0001c0001t0002a0001c0002t0028a0001c0003t0013others(37): Show | a0001c0001t0002g0102a0001c0002t0028g0005a0001c0003t0013g0026others(37): Show | 40 | 126 | 0.3175 | -8 | c.100 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3733168 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG03195.hp2 |
a0001a0013 | a0001c0004a0013c0027 | a0001c0004t0063a0013c0027t0003 | a0001c0004t0063g0095a0013c0027t0003g0099 | 2 | 126 | 0.0159 | -8 | c.931 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3733199 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02559.hp1 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0017a0001c0026others(8): Show | a0001c0004t0020a0001c0017t0005a0001c0026t0006others(8): Show | a0001c0004t0020g0086a0001c0017t0005g0003a0001c0026t0006g0093others(8): Show | 11 | 126 | 0.0873 | -8 | c.931 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3772185 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG03225.hp1 others(2): Show |
a0001a0020 | a0001c0017a0001c0019a0001c0046others(2): Show | a0001c0017t0005a0001c0019t0078a0001c0046t0073others(2): Show | a0001c0017t0005g0003a0001c0019t0078g0105a0001c0046t0073g0091others(2): Show | 5 | 126 | 0.0397 | -8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3772332 | TAGACATA others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG03540.hp1 |
a0002a0003 | a0002c0015a0002c0051a0003c0034 | a0002c0015t0021a0002c0051t0006a0003c0034t0030 | a0002c0015t0021g0008a0002c0051t0006g0081a0003c0034t0030g0038 | 3 | 126 | 0.0238 | -8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3772348 | CATATATT others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG03540.hp1 |
a0002a0003 | a0002c0015a0002c0051a0003c0034 | a0002c0015t0021a0002c0051t0006a0003c0034t0030 | a0002c0015t0021g0008a0002c0051t0006g0081a0003c0034t0030g0038 | 3 | 126 | 0.0238 | -8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3772356 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp1 HG02965.hp1 others(1): Show |
a0002a0006a0030others(1): Show | a0002c0035a0006c0083a0030c0052others(1): Show | a0002c0035t0047a0006c0083t0004a0030c0052t0049others(1): Show | a0002c0035t0047g0076a0006c0083t0004g0006a0030c0052t0049g0098others(1): Show | 4 | 126 | 0.0318 | -8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3772635 | TTATATAC others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(31): Show |
a0001a0002a0005others(10): Show | a0001c0002a0001c0003a0001c0004others(31): Show | a0001c0002t0002a0001c0003t0013a0001c0004t0063others(31): Show | a0001c0002t0002g0083a0001c0003t0013g0026a0001c0004t0063g0095others(31): Show | 34 | 126 | 0.2698 | -8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3777121 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01123.hp2 others(29): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0002a0001c0002t0061a0001c0003t0008others(29): Show | a0001c0001t0002g0125a0001c0002t0061g0069a0001c0003t0008g0053others(29): Show | 32 | 126 | 0.2540 | -8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3796260 | TAGATATA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02280.hp2 HG02451.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0004a0002c0015a0002c0030others(6): Show | a0001c0004t0020a0002c0015t0021a0002c0030t0016others(6): Show | a0001c0004t0020g0086a0002c0015t0021g0008a0002c0030t0016g0122others(6): Show | 9 | 126 | 0.0714 | -8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3796262 | GATATAGA others(1): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG06807.hp2 |
a0001a0026 | a0001c0068a0026c0082 | a0001c0068t0015a0026c0082t0052 | a0001c0068t0015g0049a0026c0082t0052g0097 | 2 | 126 | 0.0159 | -8 | c.819 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3889452 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03195.hp2 NA18906.hp1 |
a0002a0013a0029 | a0002c0032a0013c0027a0029c0028 | a0002c0032t0050a0013c0027t0003a0029c0028t0024 | a0002c0032t0050g0061a0013c0027t0003g0099a0029c0028t0024g0040 | 3 | 126 | 0.0238 | -8 | c.818 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3889486 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG03225.hp1 HG03516.hp1 others(2): Show |
a0001a0003a0008 | a0001c0017a0001c0093a0001c0111others(2): Show | a0001c0017t0005a0001c0093t0009a0001c0111t0045others(2): Show | a0001c0017t0005g0003a0001c0093t0009g0007a0001c0111t0045g0063others(2): Show | 5 | 126 | 0.0397 | -8 | c.818 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3926036 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 |
a0001a0002 | a0001c0043a0002c0070 | a0001c0043t0031a0002c0070t0046 | a0001c0043t0031g0044a0002c0070t0046g0092 | 2 | 126 | 0.0159 | -8 | c.818 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3926082 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG02055.hp2 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0071a0002c0022others(4): Show | a0001c0001t0002a0001c0071t0069a0002c0022t0036others(4): Show | a0001c0001t0002g0125a0001c0071t0069g0115a0002c0022t0036g0048others(4): Show | 7 | 126 | 0.0556 | -8 | c.818 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3940497 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01081.hp1 others(16): Show |
a0001a0002a0003others(10): Show | a0001c0006a0001c0019a0001c0045others(16): Show | a0001c0006t0002a0001c0019t0078a0001c0045t0012others(16): Show | a0001c0006t0002g0109a0001c0019t0078g0105a0001c0045t0012g0010others(16): Show | 19 | 126 | 0.1508 | -8 | c.818 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3966753 | ACGCGCGC others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02886.hp1 |
a0001a0032 | a0001c0039a0032c0011 | a0001c0039t0066a0032c0011t0065 | a0001c0039t0066g0080a0032c0011t0065g0101 | 2 | 126 | 0.0159 | -8 | c.818 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3984704 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02486.hp2 HG02647.hp2 others(1): Show |
a0001a0002a0005 | a0001c0111a0002c0070a0002c0084others(1): Show | a0001c0111t0045a0002c0070t0046a0002c0084t0018others(1): Show | a0001c0111t0045g0063a0002c0070t0046g0092a0002c0084t0018g0087others(1): Show | 4 | 126 | 0.0318 | -8 | c.818 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3984745 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG03579.hp1 |
a0001a0006 | a0001c0046a0001c0115a0006c0116 | a0001c0046t0073a0001c0115t0042a0006c0116t0004 | a0001c0046t0073g0091a0001c0115t0042g0055a0006c0116t0004g0039 | 3 | 126 | 0.0238 | -8 | c.818 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4026924 | CAACAAAC others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01243.hp1 others(19): Show |
a0001a0002a0003others(7): Show | a0001c0017a0001c0039a0001c0043others(19): Show | a0001c0017t0005a0001c0039t0066a0001c0043t0031others(19): Show | a0001c0017t0005g0003a0001c0039t0066g0080a0001c0043t0031g0044others(19): Show | 22 | 126 | 0.1746 | -8 | c.610 others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 4/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4036956 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG01074.hp2 others(49): Show |
a0001a0002a0003others(16): Show | a0001c0002a0001c0003a0001c0004others(49): Show | a0001c0002t0028a0001c0003t0008a0001c0004t0020others(49): Show | a0001c0002t0028g0005a0001c0003t0008g0053a0001c0004t0020g0086others(49): Show | 52 | 126 | 0.4127 | -8 | c.416 others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4078935 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03669.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0039a0001c0004t0020 | a0001c0001t0039g0017a0001c0004t0020g0086 | 2 | 126 | 0.0159 | -8 | c.416 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4093965 | AATAGATA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01934.hp2 HG02683.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0021a0002c0036a0002c0092others(2): Show | a0001c0021t0005a0002c0036t0029a0002c0092t0001others(2): Show | a0001c0021t0005g0012a0002c0036t0029g0009a0002c0092t0001g0011others(2): Show | 5 | 126 | 0.0397 | -8 | c.416 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4115964 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01071.hp2 others(24): Show |
a0001a0002a0003others(11): Show | a0001c0003a0001c0004a0001c0005others(24): Show | a0001c0003t0013a0001c0004t0063a0001c0005t0007others(24): Show | a0001c0003t0013g0026a0001c0004t0063g0095a0001c0005t0007g0070others(24): Show | 27 | 126 | 0.2143 | -8 | c.416 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4138044 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02074.hp2 HG02280.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0019others(10): Show | a0001c0001t0002a0001c0004t0063a0001c0019t0078others(10): Show | a0001c0001t0002g0125a0001c0004t0063g0095a0001c0019t0078g0105others(10): Show | 13 | 126 | 0.1032 | -8 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4146593 | CATTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00735.hp1 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0080a0002c0054others(8): Show | a0001c0002t0002a0001c0002t0028a0001c0080t0040others(9): Show | a0001c0002t0002g0083a0001c0002t0028g0005a0001c0080t0040g0025others(9): Show | 12 | 126 | 0.0952 | -8 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4146594 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01884.hp1 HG02258.hp2 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0033a0001c0046a0001c0105others(6): Show | a0001c0033t0003a0001c0046t0073a0001c0105t0001others(6): Show | a0001c0033t0003g0059a0001c0046t0073g0091a0001c0105t0001g0029others(6): Show | 9 | 126 | 0.0714 | -8 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4168146 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG03834.hp1 |
a0004a0007a0024 | a0004c0087a0007c0088a0024c0038 | a0004c0087t0001a0007c0088t0076a0024c0038t0075 | a0004c0087t0001g0022a0007c0088t0076g0057a0024c0038t0075g0067 | 3 | 126 | 0.0238 | -8 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4201540 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(30): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0004others(29): Show | a0001c0002t0061a0001c0003t0013a0001c0004t0020others(30): Show | a0001c0002t0061g0069a0001c0003t0013g0026a0001c0004t0020g0086others(30): Show | 33 | 126 | 0.2619 | -8 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4212174 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03130.hp2 |
a0001a0018 | a0001c0039a0018c0044 | a0001c0039t0066a0018c0044t0064 | a0001c0039t0066g0080a0018c0044t0064g0085 | 2 | 126 | 0.0159 | -8 | c.416 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4226067 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp2 NA19030.hp2 NA19043.hp1 |
a0001a0003a0012 | a0001c0093a0003c0034a0012c0104 | a0001c0093t0009a0003c0034t0030a0012c0104t0071 | a0001c0093t0009g0007a0003c0034t0030g0038a0012c0104t0071g0058 | 3 | 126 | 0.0238 | -8 | c.415 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4295750 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG02280.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0045a0001c0068a0002c0051others(10): Show | a0001c0045t0012a0001c0068t0015a0002c0051t0006others(10): Show | a0001c0045t0012g0010a0001c0068t0015g0049a0002c0051t0006g0081others(10): Show | 13 | 126 | 0.1032 | -8 | c.415 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4295781 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp2 HG01081.hp2 others(18): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0019a0001c0025others(18): Show | a0001c0001t0002a0001c0019t0078a0001c0025t0003others(18): Show | a0001c0001t0002g0125a0001c0019t0078g0105a0001c0025t0003g0077others(18): Show | 21 | 126 | 0.1667 | -8 | c.415 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4388313 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG02056.hp1 others(10): Show |
a0001a0002a0019others(3): Show | a0001c0002a0001c0004a0001c0103others(10): Show | a0001c0002t0002a0001c0004t0020a0001c0103t0033others(10): Show | a0001c0002t0002g0083a0001c0004t0020g0086a0001c0103t0033g0028others(10): Show | 13 | 126 | 0.1032 | -8 | c.415 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4446755 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG02055.hp1 others(3): Show |
a0001a0006a0008others(1): Show | a0001c0006a0001c0021a0001c0111others(3): Show | a0001c0006t0002a0001c0021t0005a0001c0111t0045others(3): Show | a0001c0006t0002g0109a0001c0021t0005g0012a0001c0111t0045g0063others(3): Show | 6 | 126 | 0.0476 | -8 | c.303 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4453216 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG02622.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0006a0001c0021a0002c0030others(3): Show | a0001c0006t0002a0001c0021t0005a0002c0030t0016others(3): Show | a0001c0006t0002g0109a0001c0021t0005g0012a0002c0030t0016g0122others(3): Show | 6 | 126 | 0.0476 | -8 | c.303 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar |