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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSAG2_chrX_152703261_152714273 | 152709632 | A | AGAGAGAG others(6): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 211 | 0.0047 | 13 | c.-52 others(22): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 360 | chrX | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41568134 | C | CTCTTTTT others(6): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 288 | 0.0035 | 13 | c.-12 others(32): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSDC2_chr22_41556010_41581666 | 41568134 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(181): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(140): Show | 184 | 288 | 0.6389 | 13 | c.-12 others(32): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49047564 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02055.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0301a0001c0001t0001g0302a0001c0001t0001g0303others(9): Show | 12 | 386 | 0.0311 | 13 | c.-12 others(30): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49065313 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026a0001c0001t0002g0028 | 2 | 386 | 0.0052 | 13 | c.229 others(28): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49065586 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 386 | 0.0026 | 13 | c.229 others(28): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSF1R_chr5_150048295_150091554 | 150084351 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0358 | 1 | 406 | 0.0025 | 13 | c.49+ others(28): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150085277 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03098.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0014a0002c0003t0001 | a0001c0001t0014g0090a0002c0003t0001g0089 | 2 | 406 | 0.0049 | 13 | c.49+ others(28): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1281052 | C | CTTCTCCT others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03453.hp2 |
a0002a0003 | a0002c0003a0003c0020 | a0002c0003t0001a0003c0020t0005 | a0002c0003t0001g0003a0003c0020t0005g0129 | 2 | 159 | 0.0126 | 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 | a0001c0001t0001g0053a0001c0001t0003g0002a0001c0001t0003g0041others(3): Show | 6 | 159 | 0.0377 | 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 | a0001c0002t0025g0001a0001c0002t0041g0031a0002c0003t0003g0109 | 3 | 238 | 0.0126 | 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 | a0001c0001t0001g0071a0001c0001t0001g0167a0001c0001t0002g0218others(10): Show | 13 | 238 | 0.0546 | 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 | 238 | 0.0042 | 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 | 238 | 0.0042 | 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 | 238 | 0.0042 | 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 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0021others(115): Show | 118 | 238 | 0.4958 | 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 | a0001c0002t0048g0238a0002c0003t0005g0052 | 2 | 238 | 0.0084 | 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 | a0001c0001t0017g0165a0001c0001t0036g0225a0001c0002t0032g0227 | 3 | 238 | 0.0126 | 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 | a0001c0003t0008g0280a0001c0003t0008g0281a0001c0003t0008g0282others(1): Show | 4 | 398 | 0.0101 | 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 | 428 | 0.0023 | 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 | 428 | 0.0047 | 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 | 438 | 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 |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0061others(16): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0002t0002g0083others(17): Show | 20 | 126 | 0.1587 | 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 |
a0001a0002a0017 | a0001c0045a0001c0111a0002c0030others(3): Show | a0001c0045t0012a0001c0111t0045a0002c0030t0016others(3): Show | a0001c0045t0012g0010a0001c0111t0045g0063a0002c0030t0016g0122others(3): Show | 6 | 126 | 0.0476 | 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 | a0001c0003t0013 | a0001c0003t0013g0026 | 1 | 126 | 0.0079 | 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 |
a0001a0003a0029others(2): Show | a0001c0020a0001c0043a0003c0014others(4): Show | a0001c0020t0016a0001c0043t0031a0003c0014t0055others(4): Show | a0001c0020t0016g0065a0001c0043t0031g0044a0003c0014t0055g0056others(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 |
a0001a0002a0004others(13): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0039a0001c0002t0028a0001c0003t0019others(41): Show | a0001c0001t0039g0017a0001c0002t0028g0005a0001c0003t0019g0107others(41): Show | 44 | 126 | 0.3492 | 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 |
a0001a0037 | a0001c0003a0037c0101 | a0001c0003t0008a0037c0101t0008 | a0001c0003t0008g0053a0037c0101t0008g0023 | 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 |
a0001a0037 | a0001c0003a0037c0101 | a0001c0003t0008a0037c0101t0008 | a0001c0003t0008g0053a0037c0101t0008g0023 | 2 | 126 | 0.0159 | 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 |
a0001a0017 | a0001c0005a0001c0045a0001c0047others(6): Show | a0001c0005t0007a0001c0045t0012a0001c0047t0014others(6): Show | a0001c0005t0007g0070a0001c0045t0012g0010a0001c0047t0014g0024others(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 |
a0001a0031 | a0001c0001a0031c0069 | a0001c0001t0002a0031c0069t0043 | a0001c0001t0002g0102a0031c0069t0043g0100 | 2 | 126 | 0.0159 | 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 | a0003 | a0003c0057 | a0003c0057t0080 | a0003c0057t0080g0075 | 1 | 126 | 0.0079 | 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 | 126 | 0.0079 | 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 |
a0001a0002a0006others(1): Show | a0001c0045a0001c0046a0001c0111others(6): Show | a0001c0045t0012a0001c0046t0073a0001c0111t0045others(6): Show | a0001c0045t0012g0010a0001c0046t0073g0091a0001c0111t0045g0063others(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 |
a0002a0003 | a0002c0031a0003c0057 | a0002c0031t0015a0003c0057t0080 | a0002c0031t0015g0001a0003c0057t0080g0075 | 2 | 126 | 0.0159 | 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 | 126 | 0.0079 | 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 | a0001c0001t0002a0001c0002t0002a0001c0002t0028others(92): Show | a0001c0001t0002g0125a0001c0002t0002g0083a0001c0002t0028g0005others(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 |
a0002a0020 | a0002c0032a0020c0024 | a0002c0032t0050a0020c0024t0077 | a0002c0032t0050g0061a0020c0024t0077g0104 | 2 | 126 | 0.0159 | 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 | a0015 | a0015c0062 | a0015c0062t0056 | a0015c0062t0056g0062 | 1 | 126 | 0.0079 | 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 |
a0001a0002a0004others(6): Show | a0001c0007a0001c0049a0001c0061others(15): Show | a0001c0007t0032a0001c0049t0002a0001c0061t0001others(15): Show | a0001c0007t0032g0033a0001c0049t0002g0071a0001c0061t0001g0021others(15): Show | 18 | 126 | 0.1429 | 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 | a0001c0002t0028 | a0001c0002t0028g0005 | 1 | 126 | 0.0079 | 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 | a0029 | a0029c0028 | a0029c0028t0024 | a0029c0028t0024g0040 | 1 | 126 | 0.0079 | 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 | a0001c0039t0066 | a0001c0039t0066g0080 | 1 | 126 | 0.0079 | 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 | a0001c0006t0060g0103a0001c0007t0001g0035a0001c0033t0003g0059others(8): Show | 11 | 126 | 0.0873 | 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 |
a0001a0025 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0039a0001c0003t0013a0001c0005t0002others(1): Show | a0001c0001t0039g0017a0001c0003t0013g0026a0001c0005t0002g0111others(1): Show | 4 | 126 | 0.0318 | 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 |
a0001a0002a0012others(2): Show | a0001c0040a0001c0045a0001c0094others(6): Show | a0001c0040t0019a0001c0045t0012a0001c0094t0002others(6): Show | a0001c0040t0019g0123a0001c0045t0012g0010a0001c0094t0002g0110others(6): Show | 9 | 126 | 0.0714 | 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 |
a0027a0033 | a0027c0023a0033c0042 | a0027c0023t0001a0033c0042t0004 | a0027c0023t0001g0052a0033c0042t0004g0004 | 2 | 126 | 0.0159 | 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 |
a0002a0035 | a0002c0031a0002c0041a0035c0098 | a0002c0031t0015a0002c0041t0027a0035c0098t0025 | a0002c0031t0015g0001a0002c0041t0027g0018a0035c0098t0025g0019 | 3 | 126 | 0.0238 | 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 | 126 | 0.0079 | 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 |
a0001a0003a0035 | a0001c0002a0001c0006a0003c0057others(1): Show | a0001c0002t0061a0001c0006t0002a0003c0057t0080others(1): Show | a0001c0002t0061g0069a0001c0006t0002g0109a0003c0057t0080g0075others(1): Show | 4 | 126 | 0.0318 | 13 | c.302 others(32): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar |