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 | 4761886 | T | TCTATCTA others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03098.hp1 NA18522.hp2 |
a0001a0002 | a0001c0002a0001c0004a0002c0072 | a0001c0002t0028a0001c0004t0063a0002c0072t0003 | a0001c0002t0028g0005 a0001c0004t0063g0095 a0002c0072t0003g0066 |
3 | 126 | 0.0238 | 8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4761890 | C | CCTATCTA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01255.hp2 HG01261.hp1 others(1): Show |
a0001a0002 | a0001c0049a0001c0102a0001c0108others(1): Show | a0001c0049t0002a0001c0102t0005a0001c0108t0054others(1): Show | a0001c0049t0002g0071 a0001c0102t0005g0034 a0001c0108t0054g0074 others(1): Show |
4 | 126 | 0.0318 | 8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4761912 | A | AATCTATC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02056.hp2 HG02129.hp2 others(6): Show |
a0001a0002a0030others(1): Show | a0001c0005a0001c0007a0001c0071others(6): Show | a0001c0005t0007a0001c0007t0032a0001c0071t0069others(6): Show | a0001c0005t0007g0070 a0001c0007t0032g0033 a0001c0071t0069g0115 others(6): Show |
9 | 126 | 0.0714 | 8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4864875 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(45): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(43): Show | a0001c0001t0002a0001c0002t0028a0001c0003t0008others(45): Show | a0001c0001t0002g0125 a0001c0002t0028g0005 a0001c0003t0008g0053 others(45): Show |
48 | 126 | 0.3810 | 8 | c.85+ others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4881411 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03225.hp2 |
a0001a0022 | a0001c0025a0022c0062 | a0001c0025t0003a0022c0062t0056 | a0001c0025t0003g0077 a0022c0062t0056g0062 |
2 | 126 | 0.0159 | 8 | c.85+ others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4894698 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02257.hp1 HG02615.hp2 others(3): Show |
a0001a0008a0022 | a0001c0004a0001c0050a0001c0105others(3): Show | a0001c0004t0063a0001c0050t0053a0001c0105t0001others(3): Show | a0001c0004t0063g0095 a0001c0050t0053g0120 a0001c0105t0001g0029 others(3): Show |
6 | 126 | 0.0476 | 8 | c.85+ others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4952347 | A | AAACATGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(99): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0003others(93): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0002others(99): Show | a0001c0001t0002g0102 a0001c0001t0039g0017 a0001c0002t0002g0083 others(99): Show |
102 | 126 | 0.8095 | 8 | c.85+ others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4972276 | G | GATATTGT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02647.hp2 HG03516.hp2 others(2): Show |
a0002a0030a0031 | a0002c0035a0002c0053a0002c0084others(2): Show | a0002c0035t0047a0002c0053t0022a0002c0084t0018others(2): Show | a0002c0035t0047g0076 a0002c0053t0022g0041 a0002c0084t0018g0087 others(2): Show |
5 | 126 | 0.0397 | 8 | c.85+ others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33512943 | G | GTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01192.hp2 HG02055.hp1 others(4): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0006a0002c0043others(4): Show | a0002c0002t0001a0002c0006t0001a0002c0043t0003others(4): Show | a0002c0002t0001g0013 a0002c0006t0001g0008 a0002c0043t0003g0061 others(4): Show |
7 | 66 | 0.1061 | 8 | c.*36 others(19): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1054 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33516317 | T | TACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02723.hp2 HG02886.hp1 HG02886.hp2 |
a0003a0018a0019 | a0003c0037a0018c0029a0019c0028 | a0003c0037t0007a0018c0029t0007a0019c0028t0007 | a0003c0037t0007g0038 a0018c0029t0007g0025 a0019c0028t0007g0041 |
3 | 66 | 0.0455 | 8 | c.*29 others(17): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 71/71 | 3200 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33536721 | G | GGTCTGTC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01074.hp2 others(16): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0026a0001c0042others(15): Show | a0001c0001t0003a0001c0001t0005a0001c0026t0003others(16): Show | a0001c0001t0003g0063 a0001c0001t0005g0055 a0001c0026t0003g0035 others(16): Show |
19 | 66 | 0.2879 | 8 | c.987 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 62/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33544831 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | NA18906.hp1 NA18906.hp2 |
a0005 | a0005c0015a0005c0020 | a0005c0015t0001a0005c0020t0006 | a0005c0015t0001g0021 a0005c0020t0006g0046 |
2 | 66 | 0.0303 | 8 | c.910 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 57/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33590595 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03453.hp1 HG03471.hp1 others(3): Show |
a0002a0003a0005others(2): Show | a0002c0006a0003c0035a0005c0012others(3): Show | a0002c0006t0004a0003c0035t0006a0005c0012t0001others(3): Show | a0002c0006t0004g0052 a0003c0035t0006g0006 a0005c0012t0001g0003 others(3): Show |
6 | 66 | 0.0909 | 8 | c.685 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 44/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33790661 | G | GTCTATCT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01978.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0004 | a0001c0001t0002a0003c0003t0005a0003c0004t0003 | a0001c0001t0002g0043 a0003c0003t0005g0029 a0003c0004t0003g0053 others(1): Show |
4 | 66 | 0.0606 | 8 | c.155 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 11/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33790661 | G | GTCTGTCT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01243.hp2 HG03225.hp2 others(1): Show |
a0001a0011a0013others(1): Show | a0001c0042a0011c0041a0013c0038others(1): Show | a0001c0042t0005a0011c0041t0005a0013c0038t0002others(1): Show | a0001c0042t0005g0051 a0011c0041t0005g0011 a0013c0038t0002g0007 others(1): Show |
4 | 66 | 0.0606 | 8 | c.155 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 11/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33790801 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01978.hp1 others(13): Show |
a0001a0002a0003others(10): Show | a0001c0045a0001c0046a0001c0047others(13): Show | a0001c0045t0013a0001c0046t0002a0001c0047t0001others(13): Show | a0001c0045t0013g0027 a0001c0046t0002g0050 a0001c0047t0001g0031 others(13): Show |
16 | 66 | 0.2424 | 8 | c.155 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 11/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33862343 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG02080.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0049others(1): Show | a0001c0001t0002a0001c0001t0005a0002c0002t0001others(2): Show | a0001c0001t0002g0043 a0001c0001t0005g0055 a0002c0002t0001g0013 others(2): Show |
5 | 66 | 0.0758 | 8 | c.921 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33889753 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | NA19030.hp2 homoSapiens_chm13v2.hp1 |
a0002a0030 | a0002c0006a0030c0033 | a0002c0006t0001a0030c0033t0012 | a0002c0006t0001g0008 a0030c0033t0012g0028 |
2 | 66 | 0.0303 | 8 | c.920 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33914385 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03225.hp2 |
a0012a0024 | a0012c0019a0024c0018 | a0012c0019t0011a0024c0018t0001 | a0012c0019t0011g0017 a0024c0018t0001g0048 |
2 | 66 | 0.0303 | 8 | c.920 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33975486 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02886.hp2 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0045a0002c0043a0003c0004others(3): Show | a0001c0045t0013a0002c0043t0003a0003c0004t0003others(3): Show | a0001c0045t0013g0027 a0002c0043t0003g0061 a0003c0004t0003g0053 others(4): Show |
7 | 66 | 0.1061 | 8 | c.518 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33975486 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02922.hp1 others(1): Show |
a0001a0003a0016others(1): Show | a0001c0026a0003c0050a0016c0010others(1): Show | a0001c0026t0003a0003c0050t0004a0016c0010t0017others(1): Show | a0001c0026t0003g0035 a0003c0050t0004g0037 a0016c0010t0017g0064 others(1): Show |
4 | 66 | 0.0606 | 8 | c.518 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34016013 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02886.hp1 NA18998.hp2 others(1): Show |
a0001a0004a0018others(1): Show | a0001c0042a0004c0032a0018c0029others(1): Show | a0001c0042t0005a0004c0032t0001a0018c0029t0007others(1): Show | a0001c0042t0005g0051 a0004c0032t0001g0022 a0018c0029t0007g0025 others(1): Show |
4 | 66 | 0.0606 | 8 | c.517 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34052495 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01978.hp2 HG02080.hp1 others(3): Show |
a0002a0003a0004others(2): Show | a0002c0006a0003c0003a0004c0034others(3): Show | a0002c0006t0004a0003c0003t0005a0004c0034t0015others(3): Show | a0002c0006t0004g0052 a0003c0003t0005g0029 a0004c0034t0015g0015 others(3): Show |
6 | 66 | 0.0909 | 8 | c.405 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34059718 | G | GTGAATGA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(13): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0044a0002c0002others(12): Show | a0001c0001t0001a0001c0044t0002a0002c0002t0005others(12): Show | a0001c0001t0001g0062 a0001c0044t0002g0026 a0002c0002t0005g0036 others(13): Show |
16 | 66 | 0.2424 | 8 | c.405 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34080921 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03139.hp1 NA18906.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0050others(1): Show | a0001c0001t0002a0002c0002t0005a0003c0050t0004others(1): Show | a0001c0001t0002g0043 a0002c0002t0005g0036 a0003c0050t0004g0037 others(1): Show |
4 | 66 | 0.0606 | 8 | c.404 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34135242 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01192.hp2 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0045a0001c0047a0002c0002others(3): Show | a0001c0045t0013a0001c0047t0001a0002c0002t0001others(3): Show | a0001c0045t0013g0027 a0001c0047t0001g0031 a0002c0002t0001g0013 others(3): Show |
6 | 66 | 0.0909 | 8 | c.187 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34169596 | T | TGAGAGAG others(1): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01192.hp1 |
a0002a0003 | a0002c0005a0003c0004 | a0002c0005t0003a0003c0004t0003 | a0002c0005t0003g0056 a0003c0004t0003g0053 |
2 | 66 | 0.0303 | 8 | c.-45 others(19): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 4367 | chr1 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112323148 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(20): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0007a0001c0021others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0068 a0001c0001t0003g0044 a0001c0001t0004g0007 others(20): Show |
23 | 80 | 0.2875 | 8 | c.716 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 45/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112333673 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02717.hp1 others(5): Show |
a0001a0002a0006others(3): Show | a0001c0023a0002c0032a0006c0009others(4): Show | a0001c0023t0001a0002c0032t0001a0006c0009t0001others(4): Show | a0001c0023t0001g0056 a0002c0032t0001g0079 a0006c0009t0001g0048 others(5): Show |
8 | 80 | 0.1000 | 8 | c.716 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 45/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112410495 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG01255.hp2 others(4): Show |
a0001a0002a0010others(1): Show | a0001c0007a0002c0005a0002c0011others(2): Show | a0001c0007t0001a0002c0005t0001a0002c0011t0001others(2): Show | a0001c0007t0001g0012 a0002c0005t0001g0027 a0002c0005t0001g0033 others(4): Show |
7 | 80 | 0.0875 | 8 | c.539 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112430910 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03041.hp2 HG03225.hp1 others(2): Show |
a0001a0007a0016others(1): Show | a0001c0023a0007c0012a0007c0013others(2): Show | a0001c0023t0001a0007c0012t0001a0007c0013t0001others(2): Show | a0001c0023t0001g0056 a0007c0012t0001g0038 a0007c0013t0001g0039 others(2): Show |
5 | 80 | 0.0625 | 8 | c.539 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112473721 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03041.hp2 HG03225.hp1 others(1): Show |
a0001a0007a0016 | a0001c0023a0007c0012a0007c0013others(1): Show | a0001c0023t0001a0007c0012t0001a0007c0013t0001others(1): Show | a0001c0023t0001g0056 a0007c0012t0001g0038 a0007c0013t0001g0039 others(1): Show |
4 | 80 | 0.0500 | 8 | c.527 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 31/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112494494 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 NA20300.hp1 |
a0003a0004 | a0003c0002a0004c0004 | a0003c0002t0001a0004c0004t0001 | a0003c0002t0001g0021 a0004c0004t0001g0034 |
2 | 80 | 0.0250 | 8 | c.508 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 30/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112494494 | C | CTTTTCTT others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG02717.hp2 others(2): Show |
a0001a0002a0010 | a0001c0006a0002c0003a0002c0032others(1): Show | a0001c0006t0003a0002c0003t0003a0002c0003t0006others(2): Show | a0001c0006t0003g0055 a0002c0003t0003g0062 a0002c0003t0006g0061 others(2): Show |
5 | 80 | 0.0625 | 8 | c.508 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 30/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112609201 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02895.hp2 HG03139.hp2 others(2): Show |
a0001a0013a0015others(1): Show | a0001c0001a0013c0018a0015c0035others(1): Show | a0001c0001t0004a0001c0001t0007a0013c0018t0003others(2): Show | a0001c0001t0004g0015 a0001c0001t0007g0041 a0013c0018t0003g0071 others(2): Show |
5 | 80 | 0.0625 | 8 | c.371 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 22/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112713357 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02922.hp2 HG03225.hp1 others(2): Show |
a0001a0016 | a0001c0001a0001c0006a0001c0016others(1): Show | a0001c0001t0007a0001c0006t0003a0001c0016t0001others(1): Show | a0001c0001t0007g0045 a0001c0006t0003g0055 a0001c0006t0003g0074 others(2): Show |
5 | 80 | 0.0625 | 8 | c.197 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112741794 | A | AAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01261.hp2 HG02257.hp1 others(12): Show |
a0001a0002a0006 | a0001c0001a0001c0006a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0002g0025 a0001c0001t0004g0018 a0001c0001t0007g0041 others(12): Show |
15 | 80 | 0.1875 | 8 | c.197 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112783412 | A | AGGAGGGA others(1): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0007a0001c0007t0001 | a0001c0001t0007g0045 a0001c0007t0001g0043 |
2 | 80 | 0.0250 | 8 | c.197 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112783424 | G | GGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01255.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0015a0001c0019others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0015t0001others(7): Show | a0001c0001t0002g0014 a0001c0001t0004g0058 a0001c0015t0001g0026 others(10): Show |
13 | 80 | 0.1625 | 8 | c.197 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112827160 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02735.hp2 HG02895.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0010 | a0001c0001t0002a0001c0001t0007a0002c0005t0001others(1): Show | a0001c0001t0002g0025 a0001c0001t0007g0045 a0002c0005t0001g0035 others(1): Show |
4 | 80 | 0.0500 | 8 | c.185 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 12/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112984994 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01074.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0021a0002c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0014 a0001c0001t0003g0023 a0001c0001t0004g0058 others(14): Show |
17 | 80 | 0.2125 | 8 | c.103 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 6/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113153101 | A | AAAGAAAA others(1): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19240.hp1 |
a0002a0006 | a0002c0003a0006c0009 | a0002c0003t0006a0006c0009t0001 | a0002c0003t0006g0061 a0006c0009t0001g0069 |
2 | 80 | 0.0250 | 8 | c.709 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113153130 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02258.hp2 HG02970.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0016a0001c0019others(3): Show | a0001c0001t0001a0001c0016t0001a0001c0019t0005others(3): Show | a0001c0001t0001g0016 a0001c0016t0001g0073 a0001c0019t0005g0065 others(3): Show |
6 | 80 | 0.0750 | 8 | c.709 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113168519 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01257.hp1 HG03225.hp2 others(1): Show |
a0002a0004a0006 | a0002c0011a0002c0033a0004c0004others(1): Show | a0002c0011t0001a0002c0033t0002a0004c0004t0001others(1): Show | a0002c0011t0001g0001 a0002c0033t0002g0029 a0004c0004t0001g0034 others(1): Show |
4 | 80 | 0.0500 | 8 | c.709 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113195791 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02735.hp1 HG02895.hp2 others(4): Show |
a0001a0003a0013 | a0001c0001a0001c0006a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(4): Show | a0001c0001t0001g0016 a0001c0001t0004g0002 a0001c0006t0003g0055 others(4): Show |
7 | 80 | 0.0875 | 8 | c.515 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113210044 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18944.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0001 | a0001c0001t0002g0014 a0001c0007t0001g0012 |
2 | 80 | 0.0250 | 8 | c.515 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113221354 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02809.hp1 others(2): Show |
a0001a0005a0013others(1): Show | a0001c0007a0005c0008a0013c0018others(1): Show | a0001c0007t0001a0005c0008t0005a0013c0018t0003others(1): Show | a0001c0007t0001g0043 a0005c0008t0005g0004 a0005c0008t0005g0005 others(2): Show |
5 | 80 | 0.0625 | 8 | c.515 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113239498 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01109.hp1 HG01261.hp2 others(25): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0016 a0001c0001t0003g0010 a0001c0001t0004g0002 others(25): Show |
28 | 80 | 0.3500 | 8 | c.514 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 3/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113318786 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01109.hp1 HG01175.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0002a0001c0001t0007a0002c0003t0002others(2): Show | a0001c0001t0002g0022 a0001c0001t0007g0041 a0002c0003t0002g0051 others(6): Show |
9 | 80 | 0.1125 | 8 | c.179 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 1/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113329204 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02280.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0019a0002c0003others(5): Show | a0001c0001t0004a0001c0019t0005a0002c0003t0002others(6): Show | a0001c0001t0004g0042 a0001c0019t0005g0065 a0002c0003t0002g0051 others(6): Show |
9 | 80 | 0.1125 | 8 | c.179 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 1/70 | chr8 | TogoVar |