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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSE1L_chr20_49041312_49101949 | 49047564 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01346.hp2 HG01891.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0002t0001a0004c0008t0001 | a0001c0001t0001g0314a0001c0001t0001g0316a0001c0001t0001g0380others(10): Show | 13 | 386 | 0.0337 | 15 | c.-12 others(32): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49050200 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0137 | 2 | 386 | 0.0052 | 15 | c.-12 others(32): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49097938 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223a0001c0001t0002g0234 | 2 | 386 | 0.0052 | 15 | c.*15 others(26): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 990 | chr20 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084392 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0338 | 1 | 406 | 0.0025 | 15 | c.49+ others(30): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150085277 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0237 | 1 | 406 | 0.0025 | 15 | c.49+ others(30): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1280961 | C | CCTTCTCC others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03139.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007a0002c0003t0001g0008 | 2 | 159 | 0.0126 | 15 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1280976 | G | GCTTCTCC others(8): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0043 | 1 | 159 | 0.0063 | 15 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1281056 | T | TCTCCTCC others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01081.hp1 others(26): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0048a0001c0001t0001g0053a0001c0001t0001g0056others(26): Show | 29 | 159 | 0.1824 | 15 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1281063 | C | CTCCTTCT others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0009others(4): Show | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0105others(6): Show | 9 | 159 | 0.0566 | 15 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1282031 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01981.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0086a0001c0001t0003g0151 | 2 | 159 | 0.0126 | 15 | c.-26 others(30): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSGALNACT1_chr8_19399161_19762277 | 19485759 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0007a0001c0002t0008 | a0001c0002t0005g0075a0001c0002t0007g0037a0001c0002t0007g0126others(4): Show | 7 | 238 | 0.0294 | 15 | c.634 others(34): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19553639 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0184 | 1 | 238 | 0.0042 | 15 | c.-29 others(36): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19597285 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03516.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0002a0001c0017 | a0001c0002t0003a0001c0002t0016a0001c0017t0023 | a0001c0002t0003g0098a0001c0002t0016g0162a0001c0002t0016g0173others(1): Show | 4 | 238 | 0.0168 | 15 | 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(8): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0017 | 1 | 238 | 0.0042 | 15 | c.-39 others(36): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSHL1_chr17_63904608_63916258 | 63904785 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0042 | 1 | 438 | 0.0023 | 15 | c.*49 others(26): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 4822 | chr17 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74805941 | C | CAACCGGT others(8): Show |
downstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 394 | 0.0025 | 15 | c.*34 others(26): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 2745 | chr15 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3083649 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0061 | a0001c0061t0001 | a0001c0061t0001g0021 | 1 | 126 | 0.0079 | 15 | c.747 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3155359 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02965.hp1 |
a0001a0010a0030 | a0001c0115a0010c0112a0030c0052 | a0001c0115t0042a0010c0112t0081a0030c0052t0049 | a0001c0115t0042g0055a0010c0112t0081g0090a0030c0052t0049g0098 | 3 | 126 | 0.0238 | 15 | c.591 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 39/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3194408 | C | CTATTTTA others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01081.hp1 others(2): Show |
a0001a0002a0019others(1): Show | a0001c0003a0001c0049a0002c0041others(2): Show | a0001c0003t0008a0001c0049t0002a0002c0041t0027others(2): Show | a0001c0003t0008g0053a0001c0049t0002g0071a0002c0041t0027g0018others(2): Show | 5 | 126 | 0.0397 | 15 | c.519 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 33/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3308254 | G | GGTGCAAG others(8): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0017 | 1 | 126 | 0.0079 | 15 | c.382 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 24/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3439122 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0019 | a0001c0019t0078 | a0001c0019t0078g0105 | 1 | 126 | 0.0079 | 15 | c.156 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3439309 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0019 | a0019c0018 | a0019c0018t0058 | a0019c0018t0058g0068 | 1 | 126 | 0.0079 | 15 | c.156 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3485762 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03540.hp1 |
a0001a0002 | a0001c0002a0002c0015 | a0001c0002t0061a0002c0015t0021 | a0001c0002t0061g0069a0002c0015t0021g0008 | 2 | 126 | 0.0159 | 15 | c.144 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 11/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3488086 | G | GTATTATT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01071.hp2 HG02486.hp1 |
a0001a0028a0037 | a0001c0047a0028c0097a0037c0101 | a0001c0047t0014a0028c0097t0018a0037c0101t0008 | a0001c0047t0014g0024a0028c0097t0018g0089a0037c0101t0008g0023 | 3 | 126 | 0.0238 | 15 | c.144 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 11/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3597422 | T | TATGATCA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(92): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0002a0001c0003others(89): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0028others(92): Show | a0001c0001t0002g0125a0001c0002t0002g0083a0001c0002t0028g0005others(92): Show | 95 | 126 | 0.7540 | 15 | c.109 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3709680 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0036 | a0036c0100 | a0036c0100t0017 | a0036c0100t0017g0121 | 1 | 126 | 0.0079 | 15 | c.932 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3714561 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01243.hp2 HG02055.hp1 others(15): Show |
a0001a0002a0006others(4): Show | a0001c0002a0001c0006a0001c0043others(15): Show | a0001c0002t0028a0001c0006t0002a0001c0043t0031others(15): Show | a0001c0002t0028g0005a0001c0006t0002g0109a0001c0043t0031g0044others(15): Show | 18 | 126 | 0.1429 | 15 | c.932 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3754433 | C | CTTATTTA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG02559.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0043others(1): Show | a0001c0001t0039a0001c0005t0007a0001c0043t0031others(1): Show | a0001c0001t0039g0017a0001c0005t0007g0070a0001c0043t0031g0044others(1): Show | 4 | 126 | 0.0318 | 15 | c.819 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3795877 | T | TCATGTAC others(8): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0076 | a0002c0076t0035 | a0002c0076t0035g0014 | 1 | 126 | 0.0079 | 15 | c.819 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3796112 | C | CATAGATA others(8): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0021 | a0001c0021t0005 | a0001c0021t0005g0012 | 1 | 126 | 0.0079 | 15 | c.819 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3926094 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0046 | a0001c0046t0073 | a0001c0046t0073g0091 | 1 | 126 | 0.0079 | 15 | c.818 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4035479 | A | ATGAAAGC others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02258.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0114a0001c0115others(5): Show | a0001c0004t0063a0001c0114t0003a0001c0115t0042others(5): Show | a0001c0004t0063g0095a0001c0114t0003g0119a0001c0115t0042g0055others(5): Show | 8 | 126 | 0.0635 | 15 | c.416 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4042815 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02257.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0050a0002c0075others(2): Show | a0001c0004t0063a0001c0050t0053a0002c0075t0026others(2): Show | a0001c0004t0063g0095a0001c0050t0053g0120a0002c0075t0026g0051others(2): Show | 5 | 126 | 0.0397 | 15 | c.416 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4174712 | A | AGAGGAAG others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02056.hp1 HG02258.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0094others(3): Show | a0001c0001t0039a0001c0002t0002a0001c0094t0002others(3): Show | a0001c0001t0039g0017a0001c0002t0002g0083a0001c0094t0002g0110others(3): Show | 6 | 126 | 0.0476 | 15 | c.416 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4174712 | A | AGAGGAAG others(8): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0022 | a0022c0013 | a0022c0013t0007 | a0022c0013t0007g0112 | 1 | 126 | 0.0079 | 15 | c.416 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4212751 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18995.hp2 NA19030.hp1 |
a0001a0039 | a0001c0019a0001c0094a0039c0009 | a0001c0019t0078a0001c0094t0002a0039c0009t0001 | a0001c0019t0078g0105a0001c0094t0002g0110a0039c0009t0001g0002 | 3 | 126 | 0.0238 | 15 | c.416 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4390497 | T | TTTATTTA others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03139.hp2 HG03195.hp2 others(3): Show |
a0001a0002a0012others(2): Show | a0001c0033a0001c0045a0002c0035others(3): Show | a0001c0033t0003a0001c0045t0012a0002c0035t0047others(3): Show | a0001c0033t0003g0059a0001c0045t0012g0010a0002c0035t0047g0076others(3): Show | 6 | 126 | 0.0476 | 15 | c.415 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4390497 | T | TTTTTTTA others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18906.hp1 |
a0002a0010 | a0002c0032a0010c0112 | a0002c0032t0050a0010c0112t0081 | a0002c0032t0050g0061a0010c0112t0081g0090 | 2 | 126 | 0.0159 | 15 | c.415 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4441095 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02922.hp2 HG06807.hp1 others(1): Show |
a0001a0002a0031 | a0001c0007a0002c0035a0002c0077others(1): Show | a0001c0007t0032a0002c0035t0047a0002c0077t0001others(1): Show | a0001c0007t0032g0033a0002c0035t0047g0076a0002c0077t0001g0016others(1): Show | 4 | 126 | 0.0318 | 15 | c.303 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4444346 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03130.hp1 HG03225.hp2 |
a0001a0038 | a0001c0025a0001c0026a0038c0066 | a0001c0025t0003a0001c0026t0006a0038c0066t0010 | a0001c0025t0003g0077a0001c0026t0006g0093a0038c0066t0010g0032 | 3 | 126 | 0.0238 | 15 | c.303 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4510390 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0010 | a0010c0112 | a0010c0112t0081 | a0010c0112t0081g0090 | 1 | 126 | 0.0079 | 15 | c.303 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4578332 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0077 | a0002c0077t0001 | a0002c0077t0001g0016 | 1 | 126 | 0.0079 | 15 | c.302 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4795252 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19030.hp1 NA20129.hp2 |
a0001a0020 | a0001c0019a0001c0111a0020c0024 | a0001c0019t0078a0001c0111t0045a0020c0024t0077 | a0001c0019t0078g0105a0001c0111t0045g0063a0020c0024t0077g0104 | 3 | 126 | 0.0238 | 15 | c.86- others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4841911 | C | CAAACAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02129.hp2 others(11): Show |
a0001a0002a0011others(3): Show | a0001c0007a0001c0017a0001c0025others(11): Show | a0001c0007t0032a0001c0017t0005a0001c0025t0003others(11): Show | a0001c0007t0032g0033a0001c0017t0005g0003a0001c0025t0003g0077others(11): Show | 14 | 126 | 0.1111 | 15 | c.85+ others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4912135 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01261.hp1 others(10): Show |
a0001a0002a0021others(3): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0002a0001c0003t0013a0001c0007t0001others(10): Show | a0001c0001t0002g0102a0001c0003t0013g0026a0001c0007t0001g0035others(10): Show | 13 | 126 | 0.1032 | 15 | c.85+ others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4925215 | G | GGTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0109 | a0001c0109t0038 | a0001c0109t0038g0013 | 1 | 126 | 0.0079 | 15 | c.85+ others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33708591 | C | CTTATTAT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02647.hp1 HG02809.hp2 others(7): Show |
a0001a0003a0006others(6): Show | a0001c0001a0003c0048a0006c0013others(7): Show | a0001c0001t0003a0003c0048t0006a0006c0013t0003others(7): Show | a0001c0001t0003g0063a0003c0048t0006g0032a0006c0013t0003g0058others(7): Show | 10 | 66 | 0.1515 | 15 | c.357 others(32): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 22/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33864973 | A | AGGAGGGG others(8): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 66 | 0.0152 | 15 | c.921 others(34): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33888756 | T | TTTGTTGT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01069.hp2 HG01071.hp2 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0026a0001c0040a0001c0042others(7): Show | a0001c0026t0003a0001c0040t0001a0001c0042t0005others(7): Show | a0001c0026t0003g0035a0001c0040t0001g0010a0001c0042t0005g0051others(8): Show | 11 | 66 | 0.1667 | 15 | c.920 others(34): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112370023 | G | GGAAGAAG others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02970.hp2 others(2): Show |
a0001a0006a0010 | a0001c0001a0006c0008a0010c0025 | a0001c0001t0004a0006c0008t0005a0010c0025t0003 | a0001c0001t0004g0042a0001c0001t0004g0067a0006c0008t0005g0004others(2): Show | 5 | 80 | 0.0625 | 15 | c.613 others(36): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar |