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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPZ_chr4_8587765_8624752 | 8608641 | C | CGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0044 | a0001c0044t0002 | a0001c0044t0002g0206 | 1 | 442 | 0.0023 | 40 | c.122 others(59): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPZ_chr4_8587765_8624752 | 8609063 | C | CCTCACTC others(33): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02717.hp1 HG02976.hp2 others(3): Show |
a0004a0007a0015 | a0004c0002a0007c0043a0015c0023 | a0004c0002t0004a0007c0043t0002a0015c0023t0002 | a0004c0002t0004g0211a0004c0002t0004g0212a0004c0002t0004g0218others(3): Show | 6 | 442 | 0.0136 | 40 | c.122 others(59): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207682960 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0327 | 1 | 346 | 0.0029 | 40 | c.378 others(55): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207683010 | T | TTCTTTCT others(33): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0291 | 1 | 346 | 0.0029 | 40 | c.378 others(55): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207581305 | C | CACGTATA others(33): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0080 | 1 | 360 | 0.0028 | 40 | c.521 others(57): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 31/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207617507 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0016 | a0016c0015 | a0016c0015t0001 | a0016c0015t0001g0209a0016c0015t0001g0210 | 2 | 360 | 0.0056 | 40 | c.689 others(57): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRACD_chr4_56044098_56335609 | 56183235 | A | AAAAATAA others(33): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0098 | 1 | 250 | 0.0040 | 40 | c.-18 others(59): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CRACD_chr4_56044098_56335609 | 56214681 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0246 | 1 | 250 | 0.0040 | 40 | c.-18 others(61): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CRACR2A_chr12_3610328_3758109 | 3643862 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02602.hp2 HG02970.hp1 others(11): Show |
a0001a0004a0015others(1): Show | a0001c0001a0004c0004a0015c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0157a0001c0001t0001g0186a0001c0001t0001g0216others(11): Show | 14 | 320 | 0.0438 | 40 | c.116 others(57): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 12/19 | chr12 | TogoVar | ||||||
CRACR2A_chr12_3610328_3758109 | 3745780 | A | AAAAATAA others(33): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01517.hp1 HG02129.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0003a0006c0006t0001 | a0001c0001t0001g0093a0001c0001t0001g0101a0001c0001t0001g0139others(5): Show | 8 | 320 | 0.0250 | 40 | c.-38 others(59): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
CRAMP1_chr16_1607360_1682908 | 1661423 | A | AGGGGGGC others(33): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 332 | 0.0030 | 40 | c.241 others(59): Show |
CRAMP1 | ENSG00000007545.16 | transcript | ENST00000397412.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CREB3L2_chr7_137869979_138007086 | 137899096 | A | AGAAGGAA others(33): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0041 | 1 | 288 | 0.0035 | 40 | c.104 others(59): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137899168 | G | GGAAGGAA others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0271 | 1 | 288 | 0.0035 | 40 | c.104 others(59): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137946856 | C | CTATATAT others(33): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0223 | 1 | 288 | 0.0035 | 40 | c.103 others(59): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137946900 | T | TTATCTAT others(33): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0003 | a0003c0003t0061 | a0003c0003t0061g0125 | 1 | 288 | 0.0035 | 40 | c.103 others(59): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB3L3_chr19_4148631_4178054 | 4163351 | A | AGAAAGAA others(33): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02165.hp2 HG02683.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0011 | a0001c0001t0001g0087a0001c0001t0001g0173a0001c0001t0002g0339others(1): Show | 4 | 404 | 0.0099 | 40 | c.577 others(57): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CREB3L3_chr19_4148631_4178054 | 4163351 | A | AGAAAGAA others(33): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0350 | 1 | 404 | 0.0025 | 40 | c.577 others(57): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28486670 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03017.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0083a0001c0001t0001g0109a0001c0001t0004g0022others(3): Show | 6 | 198 | 0.0303 | 40 | c.4-1 others(53): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28658963 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03239.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0050 | a0001c0001t0001g0060a0001c0001t0050g0032 | 2 | 198 | 0.0101 | 40 | c.465 others(59): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28775543 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 198 | 0.0051 | 40 | c.703 others(59): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173117579 | C | CTCCCTCC others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0018a0001c0001t0014g0019 | 2 | 292 | 0.0069 | 40 | c.168 others(59): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBRF_chr5_173051352_173144284 | 173117579 | C | CTCCCTCC others(33): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0221a0001c0001t0010g0284 | 2 | 292 | 0.0069 | 40 | c.168 others(59): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CRELD1_chr3_9928834_9950406 | 9940050 | G | GCTCCTCA others(33): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01952.hp1 HG01975.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0179a0001c0001t0001g0180others(6): Show | 12 | 402 | 0.0299 | 40 | c.461 others(55): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105474918 | C | CCGCTCCC others(33): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 316 | 0.0032 | 40 | c.43+ others(51): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CRPPA_chr7_16082525_16426538 | 16342782 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0003 | a0003c0005 | a0003c0005t0022 | a0003c0005t0022g0210 | 1 | 290 | 0.0035 | 40 | c.684 others(59): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCCT others(33): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 402 | 0.0025 | 40 | c.301 others(55): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB2_chr22_25214639_25236869 | 25218820 | A | AAGAAAGA others(33): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 464 | 0.0022 | 40 | c.-87 others(49): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 818 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106361953 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01106.hp2 HG01496.hp1 others(13): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0009a0003c0002others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0009t0001others(12): Show | a0001c0001t0001g0165a0001c0001t0001g0173a0001c0001t0004g0168others(13): Show | 16 | 272 | 0.0588 | 40 | 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 | 106377621 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18948.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0004 | a0001c0001t0001g0173a0001c0009t0004g0081 | 2 | 272 | 0.0074 | 40 | c.173 others(59): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG3_chr3_97817011_97949984 | 97946586 | G | GTATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0016 | a0016c0019 | a0016c0019t0001 | a0016c0019t0001g0155 | 1 | 316 | 0.0032 | 40 | c.*32 others(51): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1603 | chr3 | TogoVar | ||||||
CRYM_chr16_21253521_21283290 | 21281159 | T | TATATGTA others(33): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 NA18944.hp2 NA18993.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0031a0001c0002t0001g0029a0001c0002t0001g0146 | 5 | 394 | 0.0127 | 40 | c.-29 others(51): Show |
CRYM | ENSG00000103316.12 | transcript | ENST00000572914.2 | protein_coding | 2870 | chr16 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084343 | A | AAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG03139.hp1 NA18953.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0003 | a0001c0001t0002g0242a0001c0006t0003g0196 | 2 | 406 | 0.0049 | 40 | c.49+ others(55): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084343 | A | AAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02300.hp2 NA19079.hp2 |
a0002 | a0002c0003a0002c0013 | a0002c0003t0001a0002c0013t0003 | a0002c0003t0001g0289a0002c0003t0001g0340a0002c0013t0003g0290 | 3 | 406 | 0.0074 | 40 | c.49+ others(55): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084390 | A | AGAAAGAA others(33): Show |
intron_variant | MODIFIER | NA18982.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0277a0001c0001t0007g0091 | 2 | 406 | 0.0049 | 40 | c.49+ others(55): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084390 | A | AGAAAGAA others(33): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18906.hp2 NA18964.hp2 |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0001a0001c0004t0001a0001c0005t0004 | a0001c0002t0001g0108a0001c0004t0001g0109a0001c0005t0004g0273 | 3 | 406 | 0.0074 | 40 | c.49+ others(55): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1307517 | G | GACCTTCG others(33): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02897.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0013a0002c0003t0002others(2): Show | a0001c0001t0002g0031a0001c0001t0013g0004a0002c0003t0002g0141others(3): Show | 6 | 159 | 0.0377 | 40 | c.112 others(59): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSGALNACT1_chr8_19399161_19762277 | 19553620 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0169 | 1 | 238 | 0.0042 | 40 | c.-29 others(61): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19667027 | G | GAAAGAAA others(33): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0056 | 1 | 238 | 0.0042 | 40 | c.-39 others(61): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSH1_chr17_63889918_63901574 | 63898087 | C | CTTCTTTC others(33): Show |
upstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 40 | c.-15 others(51): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1514 | chr17 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3182841 | G | GGGGTGTG others(33): Show |
intron_variant | MODIFIER | NA18984.hp1 NA18995.hp2 |
a0001a0039 | a0001c0059a0039c0009 | a0001c0059t0001a0039c0009t0001 | a0001c0059t0001g0036a0039c0009t0001g0002 | 2 | 126 | 0.0159 | 40 | c.562 others(59): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 36/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3558369 | G | GTGCCTCA others(33): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03669.hp1 |
a0001 | a0001c0006a0001c0021 | a0001c0006t0002a0001c0021t0005 | a0001c0006t0002g0109a0001c0021t0005g0012 | 2 | 126 | 0.0159 | 40 | c.134 others(61): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3558379 | A | ACCCCGTG others(33): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02922.hp2 HG03195.hp1 others(1): Show |
a0002a0024a0027others(1): Show | a0002c0054a0024c0038a0027c0023others(1): Show | a0002c0054t0079a0024c0038t0075a0027c0023t0001others(1): Show | a0002c0054t0079g0096a0024c0038t0075g0067a0027c0023t0001g0052others(1): Show | 4 | 126 | 0.0318 | 40 | c.134 others(61): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3893339 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0103 | a0001c0103t0033 | a0001c0103t0033g0028 | 1 | 126 | 0.0079 | 40 | c.818 others(61): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3926108 | C | CACAAACA others(33): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02647.hp2 HG02922.hp1 others(2): Show |
a0002a0003a0008others(2): Show | a0002c0084a0003c0014a0008c0008others(2): Show | a0002c0084t0018a0003c0014t0055a0008c0008t0082others(2): Show | a0002c0084t0018g0087a0003c0014t0055g0056a0008c0008t0082g0126others(2): Show | 5 | 126 | 0.0397 | 40 | c.818 others(59): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112410614 | A | ATGTATAT others(33): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG01255.hp2 others(4): Show |
a0001a0002a0014 | a0001c0007a0002c0005a0002c0011others(1): Show | a0001c0007t0001a0002c0005t0001a0002c0011t0001others(1): Show | a0001c0007t0001g0012a0002c0005t0001g0027a0002c0005t0001g0033others(4): Show | 7 | 80 | 0.0875 | 40 | c.539 others(59): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113153125 | G | GAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 80 | 0.0125 | 40 | c.709 others(59): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113153126 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 80 | 0.0125 | 40 | c.709 others(59): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | ||||||
CSNK1G1_chr15_64160525_64361173 | 64231491 | T | TGTTCACT others(33): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 176 | 0.0057 | 40 | c.293 others(59): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 4/11 | chr15 | TogoVar | ||||||
CSNK2A2_chr16_58152907_58203106 | 58171958 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG02071.hp1 NA19010.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0114a0001c0003t0001g0249 | 2 | 400 | 0.0050 | 40 | c.429 others(57): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165477483 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 246 | 0.0041 | 40 | c.-28 others(59): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |