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 | 3720620 | T | TTCACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02257.hp1 HG02486.hp2 others(4): Show |
a0001a0002a0007others(2): Show | a0001c0005a0001c0050a0001c0080others(4): Show | a0001c0005t0007a0001c0050t0053a0001c0080t0040others(4): Show | a0001c0005t0007g0070a0001c0050t0053g0120a0001c0080t0040g0025others(4): Show | 7 | 126 | 0.0556 | 14 | c.932 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3720620 | T | TTCTCACA others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00735.hp2 others(14): Show |
a0001a0002a0004others(5): Show | a0001c0003a0001c0005a0001c0033others(14): Show | a0001c0003t0013a0001c0005t0002a0001c0033t0003others(14): Show | a0001c0003t0013g0026a0001c0005t0002g0111a0001c0033t0003g0059others(14): Show | 17 | 126 | 0.1349 | 14 | c.932 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3720620 | T | TTCTCTCA others(7): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0107 | 1 | 126 | 0.0079 | 14 | c.932 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3776807 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01123.hp1 HG02257.hp1 others(1): Show |
a0001a0004a0007others(1): Show | a0001c0001a0004c0056a0007c0088others(1): Show | a0001c0001t0039a0004c0056t0062a0007c0088t0076others(1): Show | a0001c0001t0039g0017a0004c0056t0062g0072a0007c0088t0076g0057others(1): Show | 4 | 126 | 0.0318 | 14 | c.819 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3889452 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0030 | a0030c0052 | a0030c0052t0049 | a0030c0052t0049g0098 | 1 | 126 | 0.0079 | 14 | c.818 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3982197 | A | AATAATAA others(7): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0079 | a0001c0079t0072 | a0001c0079t0072g0113 | 1 | 126 | 0.0079 | 14 | c.818 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4042815 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG01123.hp1 others(5): Show |
a0001a0008a0012others(1): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0039a0001c0003t0008a0001c0005t0007others(5): Show | a0001c0001t0039g0017a0001c0003t0008g0053a0001c0005t0007g0070others(5): Show | 8 | 126 | 0.0635 | 14 | c.416 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4077297 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03130.hp1 HG03195.hp2 others(1): Show |
a0001a0013a0031 | a0001c0026a0001c0111a0013c0027others(1): Show | a0001c0026t0006a0001c0111t0045a0013c0027t0003others(1): Show | a0001c0026t0006g0093a0001c0111t0045g0063a0013c0027t0003g0099others(1): Show | 4 | 126 | 0.0318 | 14 | c.416 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4212751 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0004 | a0004c0099 | a0004c0099t0014 | a0004c0099t0014g0020 | 1 | 126 | 0.0079 | 14 | c.416 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4312376 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03516.hp1 NA20129.hp2 |
a0001a0002a0003 | a0001c0111a0002c0022a0003c0014 | a0001c0111t0045a0002c0022t0036a0003c0014t0055 | a0001c0111t0045g0063a0002c0022t0036g0048a0003c0014t0055g0056 | 3 | 126 | 0.0238 | 14 | c.415 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4312396 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0083 | a0006c0083t0004 | a0006c0083t0004g0006 | 1 | 126 | 0.0079 | 14 | c.415 others(35): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4387570 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 NA19060.hp1 |
a0001a0021a0028 | a0001c0007a0021c0016a0028c0097 | a0001c0007t0001a0021c0016t0048a0028c0097t0018 | a0001c0007t0001g0035a0021c0016t0048g0106a0028c0097t0018g0089 | 3 | 126 | 0.0238 | 14 | c.415 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4441095 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03834.hp2 NA19043.hp1 |
a0001 | a0001c0040a0001c0093 | a0001c0040t0019a0001c0093t0009 | a0001c0040t0019g0123a0001c0093t0009g0007 | 2 | 126 | 0.0159 | 14 | c.303 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4446739 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0064 | a0005c0064t0051 | a0005c0064t0051g0078 | 1 | 126 | 0.0079 | 14 | c.303 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4455929 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 126 | 0.0079 | 14 | c.303 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4510390 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0053 | a0002c0053t0022 | a0002c0053t0022g0041 | 1 | 126 | 0.0079 | 14 | c.303 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4578332 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0039 | a0039c0009 | a0039c0009t0001 | a0039c0009t0001g0002 | 1 | 126 | 0.0079 | 14 | c.302 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4588779 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01071.hp1 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0002a0001c0001t0039a0001c0003t0013others(15): Show | a0001c0001t0002g0102a0001c0001t0039g0017a0001c0003t0013g0026others(15): Show | 18 | 126 | 0.1429 | 14 | c.302 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4604381 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02683.hp1 NA18906.hp2 others(1): Show |
a0001a0002a0008 | a0001c0021a0001c0093a0002c0070others(1): Show | a0001c0021t0005a0001c0093t0009a0002c0070t0046others(1): Show | a0001c0021t0005g0012a0001c0093t0009g0007a0002c0070t0046g0092others(1): Show | 4 | 126 | 0.0318 | 14 | c.302 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4604410 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0005 | 1 | 126 | 0.0079 | 14 | c.302 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4637644 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0109 | a0001c0109t0038 | a0001c0109t0038g0013 | 1 | 126 | 0.0079 | 14 | c.86- others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4650556 | A | ACATGCAG others(7): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0027 | a0027c0023 | a0027c0023t0001 | a0027c0023t0001g0052 | 1 | 126 | 0.0079 | 14 | c.86- others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4680950 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01261.hp1 HG02486.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0021a0001c0108a0002c0036others(4): Show | a0001c0021t0005a0001c0108t0054a0002c0036t0029others(4): Show | a0001c0021t0005g0012a0001c0108t0054g0074a0002c0036t0029g0009others(4): Show | 7 | 126 | 0.0556 | 14 | c.86- others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4680975 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0036 | 1 | 126 | 0.0079 | 14 | c.86- others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4738903 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG03195.hp1 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0040a0002c0051a0002c0054others(2): Show | a0001c0040t0019a0002c0051t0006a0002c0054t0079others(2): Show | a0001c0040t0019g0123a0002c0051t0006g0081a0002c0054t0079g0096others(2): Show | 5 | 126 | 0.0397 | 14 | c.86- others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4799598 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0030 | a0002c0030t0016 | a0002c0030t0016g0122 | 1 | 126 | 0.0079 | 14 | c.86- others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4817101 | A | AATGTATA others(7): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0007 | a0001c0007t0032 | a0001c0007t0032g0033 | 1 | 126 | 0.0079 | 14 | c.85+ others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4841911 | C | CAAACAAA others(7): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0045 | a0001c0045t0012 | a0001c0045t0012g0010 | 1 | 126 | 0.0079 | 14 | c.85+ others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4912135 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01255.hp2 others(5): Show |
a0001a0002a0016others(2): Show | a0001c0003a0001c0004a0001c0017others(5): Show | a0001c0003t0019a0001c0004t0020a0001c0017t0005others(5): Show | a0001c0003t0019g0107a0001c0004t0020g0086a0001c0017t0005g0003others(5): Show | 8 | 126 | 0.0635 | 14 | c.85+ others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4912135 | A | AAAAAAGA others(7): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0008 | a0008c0008 | a0008c0008t0082 | a0008c0008t0082g0126 | 1 | 126 | 0.0079 | 14 | c.85+ others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4925215 | G | GGTTTTTT others(7): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0092 | a0002c0092t0001 | a0002c0092t0001g0011 | 1 | 126 | 0.0079 | 14 | c.85+ others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33544831 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02965.hp2 HG03195.hp1 others(1): Show |
a0001a0004a0005others(1): Show | a0001c0045a0004c0051a0005c0012others(1): Show | a0001c0045t0013a0004c0051t0001a0005c0012t0001others(1): Show | a0001c0045t0013g0027a0004c0051t0001g0019a0005c0012t0001g0003others(1): Show | 4 | 66 | 0.0606 | 14 | c.910 others(33): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 57/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33567478 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG02080.hp1 others(2): Show |
a0002a0004a0010others(1): Show | a0002c0002a0004c0034a0004c0049others(2): Show | a0002c0002t0010a0004c0034t0015a0004c0049t0009others(2): Show | a0002c0002t0010g0016a0004c0034t0015g0015a0004c0049t0009g0012others(2): Show | 5 | 66 | 0.0758 | 14 | c.838 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 53/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33618015 | A | AAGACAGA others(7): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01069.hp1 others(32): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0026a0001c0044others(28): Show | a0001c0001t0001a0001c0001t0005a0001c0026t0003others(30): Show | a0001c0001t0001g0033a0001c0001t0001g0062a0001c0001t0005g0055others(32): Show | 35 | 66 | 0.5303 | 14 | c.582 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 37/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33862343 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01192.hp1 HG03139.hp1 |
a0002a0003 | a0002c0002a0002c0005a0003c0050 | a0002c0002t0005a0002c0005t0003a0003c0050t0004 | a0002c0002t0005g0036a0002c0005t0003g0056a0003c0050t0004g0037 | 3 | 66 | 0.0455 | 14 | c.921 others(33): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33950383 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 |
a0023a0026 | a0023c0017a0026c0023 | a0023c0017t0016a0026c0023t0003 | a0023c0017t0016g0066a0026c0023t0003g0039 | 2 | 66 | 0.0303 | 14 | c.518 others(33): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33975486 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01071.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0047a0002c0002others(3): Show | a0001c0001t0001a0001c0047t0001a0002c0002t0005others(3): Show | a0001c0001t0001g0062a0001c0047t0001g0031a0002c0002t0005g0036others(3): Show | 6 | 66 | 0.0909 | 14 | c.518 others(33): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33975486 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03453.hp1 NA18998.hp1 others(1): Show |
a0001a0003a0010 | a0001c0001a0003c0035a0010c0056 | a0001c0001t0001a0001c0001t0005a0003c0035t0006others(1): Show | a0001c0001t0001g0033a0001c0001t0005g0055a0003c0035t0006g0006others(1): Show | 4 | 66 | 0.0606 | 14 | c.518 others(33): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 34052495 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0045 | a0001c0045t0013 | a0001c0045t0013g0027 | 1 | 66 | 0.0152 | 14 | c.405 others(33): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112387465 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0051 | 1 | 80 | 0.0125 | 14 | c.593 others(33): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 36/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112458215 | C | CCACACAC others(7): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG01257.hp2 others(6): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0007a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0001others(3): Show | a0001c0001t0001g0016a0001c0001t0003g0010a0001c0007t0001g0012others(6): Show | 9 | 80 | 0.1125 | 14 | c.539 others(35): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112465974 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03225.hp1 HG03516.hp1 |
a0005a0008a0013 | a0005c0012a0008c0014a0013c0026 | a0005c0012t0001a0008c0014t0005a0013c0026t0001 | a0005c0012t0001g0038a0008c0014t0005g0040a0013c0026t0001g0057 | 3 | 80 | 0.0375 | 14 | c.539 others(33): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112747962 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18990.hp1 |
a0001 | a0001c0006a0001c0016 | a0001c0006t0003a0001c0016t0001 | a0001c0006t0003g0074a0001c0016t0001g0073 | 2 | 80 | 0.0250 | 14 | c.197 others(35): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112827160 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0032 | 1 | 80 | 0.0125 | 14 | c.185 others(33): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 12/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112827164 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0013 | a0013c0026 | a0013c0026t0001 | a0013c0026t0001g0057 | 1 | 80 | 0.0125 | 14 | c.185 others(33): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 12/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112897694 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03041.hp2 |
a0005 | a0005c0012a0005c0013 | a0005c0012t0001a0005c0013t0001 | a0005c0012t0001g0038a0005c0013t0001g0039 | 2 | 80 | 0.0250 | 14 | c.163 others(35): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113195791 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0010 | a0010c0025 | a0010c0025t0003 | a0010c0025t0003g0052 | 1 | 80 | 0.0125 | 14 | c.515 others(33): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113221354 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0008 | 1 | 80 | 0.0125 | 14 | c.515 others(33): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113223622 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0060 | 1 | 80 | 0.0125 | 14 | c.515 others(33): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113318786 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01257.hp2 HG02895.hp2 |
a0001a0009a0012 | a0001c0001a0009c0018a0012c0022 | a0001c0001t0003a0009c0018t0003a0012c0022t0001 | a0001c0001t0003g0023a0009c0018t0003g0071a0012c0022t0001g0013 | 3 | 80 | 0.0375 | 14 | c.179 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 1/70 | chr8 | TogoVar |