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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSF2RA_chrX_1263814_1314935 | 1281052 | C | CTTCTCCT others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03453.hp2 |
a0002a0003 | a0002c0003a0003c0018 | a0002c0003t0001a0003c0018t0005 | a0002c0003t0001g0003 a0003c0018t0005g0129 |
2 | 153 | 0.0131 | 13 | c.-26 others(30): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1282031 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01175.hp1 HG01192.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0048 a0001c0001t0003g0002 a0001c0001t0003g0061 others(3): Show |
6 | 20 | 0.3000 | 13 | c.-26 others(28): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19541553 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02886.hp1 HG03139.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0025a0001c0002t0041a0002c0003t0003 | a0001c0002t0025g0001 a0001c0002t0041g0031 a0002c0003t0003g0109 |
3 | 76 | 0.0395 | 13 | c.-29 others(34): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19649819 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01071.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(6): Show | a0001c0001t0001g0071 a0001c0001t0001g0167 a0001c0001t0002g0218 others(10): Show |
13 | 29 | 0.4483 | 13 | c.-39 others(34): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666809 | A | AAGAAAGA others(6): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 172 | 0.0058 | 13 | c.-39 others(34): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666995 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0097 | 1 | 232 | 0.0043 | 13 | c.-39 others(34): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19676084 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0172 | 1 | 141 | 0.0071 | 13 | c.-39 others(34): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19707632 | G | GCAAACAT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(115): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(42): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 others(115): Show |
118 | 234 | 0.5043 | 13 | c.-39 others(34): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19707632 | G | GTAAACAT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0048a0002c0003t0005 | a0001c0002t0048g0238 a0002c0003t0005g0052 |
2 | 118 | 0.0169 | 13 | c.-39 others(34): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19755456 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02300.hp2 NA18992.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0036a0001c0002t0032 | a0001c0001t0017g0165 a0001c0001t0036g0225 a0001c0002t0032g0227 |
3 | 12 | 0.2500 | 13 | c.-39 others(32): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT2_chr10_43133445_43190302 | 43153334 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02602.hp1 HG03017.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0271 a0001c0003t0008g0272 a0001c0003t0008g0273 others(1): Show |
4 | 101 | 0.0396 | 13 | c.-25 others(32): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CSH1_chr17_63889918_63901574 | 63898144 | T | TTCTTCTC others(6): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 248 | 0.0040 | 13 | c.-16 others(24): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1571 | chr17 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898175 | T | TCTCTCTC others(6): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 418 | 0.0048 | 13 | c.-16 others(24): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1602 | chr17 | TogoVar | |||||||
CSHL1_chr17_63904608_63916258 | 63912903 | C | CCCCTTCT others(6): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 13 | c.-17 others(24): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 1646 | chr17 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2973816 | G | GTGGTAGA others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01074.hp2 HG01884.hp1 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0061others(16): Show | a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0002t0002g0083 others(17): Show |
20 | 125 | 0.1600 | 13 | c.874 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 56/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2973855 | A | ATGGTAGA others(6): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02622.hp1 HG03516.hp2 others(3): Show |
a0001a0002a0030 | a0001c0045a0001c0111a0002c0030others(3): Show | a0001c0045t0014a0001c0111t0045a0002c0030t0018others(3): Show | a0001c0045t0014g0010 a0001c0111t0045g0063 a0002c0030t0018g0122 others(3): Show |
6 | 125 | 0.0480 | 13 | c.874 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 56/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2974024 | A | ATGGTAGA others(6): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0026 | 1 | 97 | 0.0103 | 13 | c.874 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 56/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2974050 | G | GTGGTAGA others(6): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(4): Show |
a0001a0004a0016others(2): Show | a0001c0020a0001c0043a0004c0014others(4): Show | a0001c0020t0018a0001c0043t0031a0004c0014t0055others(4): Show | a0001c0020t0018g0065 a0001c0043t0031g0044 a0004c0014t0055g0056 others(4): Show |
7 | 126 | 0.0556 | 13 | c.874 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 56/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2974063 | G | GTGGTAGA others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00735.hp1 others(41): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0038a0001c0002t0026a0001c0003t0019others(41): Show | a0001c0001t0038g0017 a0001c0002t0026g0005 a0001c0003t0019g0107 others(41): Show |
44 | 92 | 0.4783 | 13 | c.874 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 56/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2974119 | T | TAGAGGAT others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02486.hp1 |
a0001a0017 | a0001c0003a0017c0101 | a0001c0003t0008a0017c0101t0008 | a0001c0003t0008g0053 a0017c0101t0008g0023 |
2 | 126 | 0.0159 | 13 | c.874 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 56/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2994145 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02486.hp1 |
a0001a0017 | a0001c0003a0017c0101 | a0001c0003t0008a0017c0101t0008 | a0001c0003t0008g0053 a0017c0101t0008g0023 |
2 | 28 | 0.0714 | 13 | c.837 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 54/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3037290 | C | CCATCTCC others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01071.hp2 others(6): Show |
a0001a0030 | a0001c0005a0001c0045a0001c0047others(6): Show | a0001c0005t0006a0001c0045t0014a0001c0047t0012others(6): Show | a0001c0005t0006g0070 a0001c0045t0014g0010 a0001c0047t0012g0024 others(6): Show |
9 | 126 | 0.0714 | 13 | c.766 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 50/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3155359 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02922.hp2 HG04204.hp2 |
a0001a0023 | a0001c0001a0023c0069 | a0001c0001t0002a0023c0069t0043 | a0001c0001t0002g0102 a0023c0069t0043g0100 |
2 | 7 | 0.2857 | 13 | c.591 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 39/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3220150 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0004 | a0004c0057 | a0004c0057t0080 | a0004c0057t0080g0075 | 1 | 85 | 0.0118 | 13 | c.448 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 28/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3439309 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 45 | 0.0222 | 13 | c.156 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3502256 | T | TCGGGAGG others(6): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0007others(1): Show | a0001c0045a0001c0046a0001c0111others(6): Show | a0001c0045t0014a0001c0046t0073a0001c0111t0045others(6): Show | a0001c0045t0014g0010 a0001c0046t0073g0091 a0001c0111t0045g0063 others(6): Show |
9 | 126 | 0.0714 | 13 | c.134 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3564517 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 |
a0002a0004 | a0002c0031a0004c0057 | a0002c0031t0015a0004c0057t0080 | a0002c0031t0015g0001 a0004c0057t0080g0075 |
2 | 23 | 0.0870 | 13 | c.134 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3565131 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0021 | a0001c0021t0005 | a0001c0021t0005g0012 | 1 | 11 | 0.0909 | 13 | c.134 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3597383 | A | AAAGCCTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(92): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0002a0001c0003others(89): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0026others(92): Show | a0001c0001t0002g0125 a0001c0002t0002g0083 a0001c0002t0026g0005 others(92): Show |
95 | 126 | 0.7540 | 13 | c.109 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3644966 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18906.hp1 |
a0002a0032 | a0002c0032a0032c0024 | a0002c0032t0053a0032c0024t0077 | a0002c0032t0053g0061 a0032c0024t0077g0104 |
2 | 59 | 0.0339 | 13 | c.101 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3709680 | G | GGCTTTTT others(6): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0022 | a0022c0062 | a0022c0062t0057 | a0022c0062t0057g0062 | 1 | 37 | 0.0270 | 13 | c.932 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3714561 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00735.hp1 others(15): Show |
a0001a0002a0003others(6): Show | a0001c0007a0001c0049a0001c0061others(15): Show | a0001c0007t0032a0001c0049t0002a0001c0061t0001others(15): Show | a0001c0007t0032g0033 a0001c0049t0002g0071 a0001c0061t0001g0021 others(15): Show |
18 | 27 | 0.6667 | 13 | c.932 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3926098 | C | CACACAAA others(6): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0005 | 1 | 122 | 0.0082 | 13 | c.818 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3926100 | C | CAAACACC others(6): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0016 | a0016c0028 | a0016c0028t0024 | a0016c0028t0024g0040 | 1 | 123 | 0.0081 | 13 | c.818 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3968004 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0039 | a0001c0039t0064 | a0001c0039t0064g0080 | 1 | 17 | 0.0588 | 13 | c.818 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4042815 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01261.hp1 HG02723.hp2 others(8): Show |
a0001a0002a0005others(3): Show | a0001c0006a0001c0007a0001c0033others(8): Show | a0001c0006t0060a0001c0007t0001a0001c0033t0003others(8): Show | a0001c0006t0060g0103 a0001c0007t0001g0035 a0001c0033t0003g0059 others(8): Show |
11 | 33 | 0.3333 | 13 | c.416 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4212751 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03669.hp2 NA18982.hp2 others(1): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0038a0001c0003t0011a0001c0005t0002others(1): Show | a0001c0001t0038g0017 a0001c0003t0011g0026 a0001c0005t0002g0111 others(1): Show |
4 | 24 | 0.1667 | 13 | c.416 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4387570 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(6): Show |
a0001a0002a0010others(2): Show | a0001c0040a0001c0045a0001c0094others(6): Show | a0001c0040t0019a0001c0045t0014a0001c0094t0002others(6): Show | a0001c0040t0019g0123 a0001c0045t0014g0010 a0001c0094t0002g0110 others(6): Show |
9 | 16 | 0.5625 | 13 | c.415 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4444346 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 NA18522.hp1 |
a0018a0035 | a0018c0042a0035c0023 | a0018c0042t0004a0035c0023t0001 | a0018c0042t0004g0004 a0035c0023t0001g0052 |
2 | 16 | 0.1250 | 13 | c.303 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4455929 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01243.hp2 HG01255.hp1 |
a0002a0014 | a0002c0031a0002c0041a0014c0098 | a0002c0031t0015a0002c0041t0025a0014c0098t0027 | a0002c0031t0015g0001 a0002c0041t0025g0018 a0014c0098t0027g0019 |
3 | 7 | 0.4286 | 13 | c.303 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4510390 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0025 | a0001c0025t0003 | a0001c0025t0003g0077 | 1 | 2 | 0.5000 | 13 | c.303 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4578332 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG03017.hp1 others(1): Show |
a0001a0004a0014 | a0001c0002a0001c0006a0004c0057others(1): Show | a0001c0002t0061a0001c0006t0002a0004c0057t0080others(1): Show | a0001c0002t0061g0069 a0001c0006t0002g0109 a0004c0057t0080g0075 others(1): Show |
4 | 26 | 0.1538 | 13 | c.302 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4791086 | G | GAGAGACG others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02683.hp1 HG02922.hp2 others(4): Show |
a0001a0023a0031 | a0001c0017a0001c0021a0001c0033others(4): Show | a0001c0017t0005a0001c0021t0005a0001c0033t0003others(4): Show | a0001c0017t0005g0003 a0001c0021t0005g0012 a0001c0033t0003g0059 others(4): Show |
7 | 126 | 0.0556 | 13 | c.86- others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4795252 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19030.hp2 NA19060.hp1 |
a0001a0038 | a0001c0007a0001c0081a0038c0104 | a0001c0007t0001a0001c0081t0036a0038c0104t0069 | a0001c0007t0001g0035 a0001c0081t0036g0030 a0038c0104t0069g0058 |
3 | 16 | 0.1875 | 13 | c.86- others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4841930 | A | ACAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 |
a0005a0016 | a0005c0107a0016c0028 | a0005c0107t0066a0016c0028t0024 | a0005c0107t0066g0073 a0016c0028t0024g0040 |
2 | 93 | 0.0215 | 13 | c.85+ others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4912128 | A | AAAAAAGA others(6): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG03139.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0054a0002c0074others(2): Show | a0001c0004t0063a0002c0054t0079a0002c0074t0040others(2): Show | a0001c0004t0063g0095 a0002c0054t0079g0096 a0002c0074t0040g0031 others(2): Show |
5 | 126 | 0.0397 | 13 | c.85+ others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4912135 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02055.hp2 HG02056.hp1 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0047a0002c0072others(3): Show | a0001c0002t0002a0001c0047t0012a0002c0072t0003others(3): Show | a0001c0002t0002g0083 a0001c0047t0012g0024 a0002c0072t0003g0066 others(3): Show |
6 | 94 | 0.0638 | 13 | c.85+ others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4912135 | A | AAAAAAGA others(6): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0038 | a0038c0104 | a0038c0104t0069 | a0038c0104t0069g0058 | 1 | 89 | 0.0112 | 13 | c.85+ others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4966209 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0035 | a0035c0023 | a0035c0023t0001 | a0035c0023t0001g0052 | 1 | 34 | 0.0294 | 13 | c.85+ others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112382291 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0001 | 1 | 35 | 0.0286 | 13 | c.603 others(32): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 37/70 | chr8 | TogoVar |