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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CROCC2_chr2_240901336_240998311 | 240923488 | G | GCCCCCAC others(29): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG02004.hp1 others(10): Show |
a0001a0002a0013others(3): Show | a0001c0001a0001c0022a0001c0067others(5): Show | a0001c0001t0001a0001c0022t0002a0001c0067t0002others(7): Show | a0001c0001t0001g0154a0001c0001t0001g0156a0001c0022t0002g0322others(10): Show | 13 | 350 | 0.0371 | 36 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923800 | G | GCCCCCAC others(29): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0051 | 1 | 350 | 0.0029 | 36 | c.488 others(53): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923903 | C | CAGCCCCC others(29): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0067 | a0001c0067t0002 | a0001c0067t0002g0287 | 1 | 350 | 0.0029 | 36 | c.488 others(53): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923957 | T | TCCCCCAC others(29): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 | 1 | 350 | 0.0029 | 36 | c.488 others(53): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923972 | A | AGCCCCCC others(29): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0217 | 1 | 350 | 0.0029 | 36 | c.488 others(53): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924044 | G | GCCCCCAC others(29): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02015.hp2 NA18944.hp1 others(8): Show |
a0007a0010a0050 | a0007c0006a0010c0009a0050c0039 | a0007c0006t0001a0007c0006t0003a0010c0009t0001others(2): Show | a0007c0006t0001g0088a0007c0006t0003g0002a0010c0009t0001g0087others(6): Show | 11 | 350 | 0.0314 | 36 | c.488 others(53): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924237 | G | GCCCCCCA others(29): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0020 | a0020c0026 | a0020c0026t0001 | a0020c0026t0001g0046 | 1 | 350 | 0.0029 | 36 | c.489 others(53): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924272 | G | GCCCCCAC others(29): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0063 | a0063c0025 | a0063c0025t0001 | a0063c0025t0001g0022 | 1 | 350 | 0.0029 | 36 | c.489 others(53): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924324 | G | GCCCCCCA others(29): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0318 | 1 | 350 | 0.0029 | 36 | c.489 others(53): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924445 | C | CCCCCCAC others(29): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(8): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0012others(1): Show | a0001c0001t0003a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0003g0226a0001c0001t0004g0285a0002c0002t0001g0057others(8): Show | 11 | 350 | 0.0314 | 36 | c.489 others(53): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924793 | G | GCCCCCAC others(29): Show |
intron_variant | MODIFIER | NA18953.hp1 NA19000.hp1 |
a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0190a0009c0010t0003g0192 | 2 | 350 | 0.0057 | 36 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924825 | C | CAGCCCCC others(29): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp2 others(18): Show |
a0001a0002a0017others(1): Show | a0001c0001a0002c0002a0017c0062others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0130others(17): Show | 21 | 350 | 0.0600 | 36 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924895 | G | GCCCCCCA others(29): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0030 | a0030c0053 | a0030c0053t0001 | a0030c0053t0001g0071 | 1 | 350 | 0.0029 | 36 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924896 | C | CCCCCCAC others(29): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01175.hp2 others(11): Show |
a0001a0002a0011others(3): Show | a0001c0001a0002c0002a0011c0044others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(5): Show | a0001c0001t0001g0095a0001c0001t0002g0248a0001c0001t0002g0306others(11): Show | 14 | 350 | 0.0400 | 36 | c.489 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CRPPA_chr7_16082525_16426538 | 16387059 | A | ATACATAT others(29): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02280.hp2 HG02922.hp1 others(1): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0008a0002c0004t0029a0002c0004t0062others(1): Show | a0002c0002t0008g0287a0002c0004t0029g0283a0002c0004t0062g0284others(1): Show | 4 | 290 | 0.0138 | 36 | c.535 others(55): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0051 | 1 | 290 | 0.0035 | 36 | c.535 others(55): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18737739 | G | GCTCCTCC others(29): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0158 | 1 | 274 | 0.0037 | 36 | c.127 others(53): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 402 | 0.0025 | 36 | c.301 others(51): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG01993.hp2 NA19057.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0228a0001c0001t0001g0229 | 3 | 402 | 0.0075 | 36 | c.301 others(51): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 402 | 0.0025 | 36 | c.301 others(51): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106361953 | T | TTTTCTTT others(29): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01255.hp1 HG01361.hp1 others(11): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0024a0003c0002others(6): Show | a0001c0001t0001a0001c0024t0001a0003c0002t0001others(7): Show | a0001c0001t0001g0192a0001c0001t0001g0193a0001c0001t0001g0198others(11): Show | 14 | 272 | 0.0515 | 36 | c.173 others(51): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106377621 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03471.hp2 HG03579.hp2 |
a0001a0054a0056 | a0001c0001a0054c0029a0056c0033 | a0001c0001t0001a0054c0029t0001a0056c0033t0002 | a0001c0001t0001g0148a0054c0029t0001g0244a0056c0033t0002g0248 | 3 | 272 | 0.0110 | 36 | c.173 others(55): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106573930 | A | AAGAAAAT others(29): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0264 | 1 | 272 | 0.0037 | 36 | c.*53 others(47): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1914 | chr6 | TogoVar | ||||||
CSAG1_chrX_152722484_152738721 | 152730009 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0071 | 1 | 318 | 0.0031 | 36 | c.17- others(51): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 2/3 | chrX | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084343 | A | AAAAGAAA others(29): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02129.hp2 NA18953.hp1 others(1): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0022others(1): Show | a0001c0004t0003a0001c0005t0004a0001c0022t0001others(1): Show | a0001c0004t0003g0197a0001c0005t0004g0354a0001c0022t0001g0255others(1): Show | 4 | 406 | 0.0099 | 36 | c.49+ others(51): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084390 | A | AGAAAGAA others(29): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02698.hp1 HG02698.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0002a0001c0002t0001a0002c0008t0011others(1): Show | a0001c0001t0002g0279a0001c0002t0001g0113a0002c0008t0011g0278others(1): Show | 4 | 406 | 0.0099 | 36 | c.49+ others(51): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084390 | A | AGAAAGAA others(29): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0315 | 1 | 406 | 0.0025 | 36 | c.49+ others(51): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084390 | A | AGAAAGAA others(29): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0270 | 1 | 406 | 0.0025 | 36 | c.49+ others(51): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084392 | A | AAAGAAAG others(29): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0300 | 1 | 406 | 0.0025 | 36 | c.49+ others(51): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1280904 | G | GCTCCTTC others(29): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 159 | 0.0063 | 36 | c.-26 others(53): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1281435 | T | TCTCCTCC others(29): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0010 | 1 | 159 | 0.0063 | 36 | c.-26 others(53): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSGALNACT1_chr8_19399161_19762277 | 19553620 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0147a0001c0002t0024g0148 | 2 | 238 | 0.0084 | 36 | c.-29 others(57): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19657239 | T | TGATAAAC others(29): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02056.hp1 HG03831.hp2 others(3): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0015 | a0001c0001t0001a0001c0001t0036a0002c0003t0003others(2): Show | a0001c0001t0001g0061a0001c0001t0001g0138a0001c0001t0036g0225others(3): Show | 6 | 238 | 0.0252 | 36 | c.-39 others(57): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19667027 | G | GAAAAGAA others(29): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046 | 1 | 238 | 0.0042 | 36 | c.-39 others(57): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19667040 | G | GAAGGAAG others(29): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 238 | 0.0042 | 36 | c.-39 others(57): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSH1_chr17_63889918_63901574 | 63898115 | T | TTTCTTTC others(29): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 36 | c.-16 others(47): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1542 | chr17 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3182841 | G | GGGGTGTG others(29): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02074.hp1 |
a0001a0006 | a0001c0079a0006c0083 | a0001c0079t0072a0006c0083t0004 | a0001c0079t0072g0113a0006c0083t0004g0006 | 2 | 126 | 0.0159 | 36 | c.562 others(55): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 36/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3411867 | T | TATGCACG others(29): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03195.hp1 |
a0002a0030 | a0002c0054a0030c0052 | a0002c0054t0079a0030c0052t0049 | a0002c0054t0079g0096a0030c0052t0049g0098 | 2 | 126 | 0.0159 | 36 | c.156 others(55): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3412010 | A | ATACGTGT others(29): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG03669.hp2 |
a0001a0002a0019 | a0001c0001a0002c0022a0019c0018 | a0001c0001t0039a0002c0022t0036a0019c0018t0058 | a0001c0001t0039g0017a0002c0022t0036g0048a0019c0018t0058g0068 | 3 | 126 | 0.0238 | 36 | c.156 others(55): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3439309 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0079 | a0001c0079t0072 | a0001c0079t0072g0113 | 1 | 126 | 0.0079 | 36 | c.156 others(57): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3556412 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 |
a0002a0038 | a0002c0030a0038c0066 | a0002c0030t0016a0038c0066t0010 | a0002c0030t0016g0122a0038c0066t0010g0032 | 2 | 126 | 0.0159 | 36 | c.134 others(57): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4077297 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0069 | 1 | 126 | 0.0079 | 36 | c.416 others(55): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4693780 | C | CATTCTCC others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(97): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0002a0001c0003others(90): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0002others(96): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0001t0039g0017others(97): Show | 100 | 126 | 0.7937 | 36 | c.86- others(53): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4717310 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18906.hp1 |
a0002a0005 | a0002c0032a0005c0064 | a0002c0032t0050a0005c0064t0051 | a0002c0032t0050g0061a0005c0064t0051g0078 | 2 | 126 | 0.0159 | 36 | c.86- others(53): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113153125 | G | GAAAGAAA others(29): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 80 | 0.0125 | 36 | c.709 others(55): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113153126 | A | AAAGAAAG others(29): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 |
a0007a0017 | a0007c0009a0017c0029 | a0007c0009t0001a0017c0029t0004 | a0007c0009t0001g0048a0017c0029t0004g0063 | 2 | 80 | 0.0250 | 36 | c.709 others(55): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113153126 | A | AAAGAAAG others(29): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0043 | 1 | 80 | 0.0125 | 36 | c.709 others(55): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113153126 | A | AAAGAAAG others(29): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 80 | 0.0125 | 36 | c.709 others(55): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | ||||||
CSNK1A1_chr5_149487982_149556439 | 149542638 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA18969.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0372a0001c0001t0022g0363 | 2 | 390 | 0.0051 | 36 | c.230 others(53): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
CSNK1A1_chr5_149487982_149556439 | 149542638 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0353 | 1 | 390 | 0.0026 | 36 | c.230 others(53): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar |