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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD7_chr8_60673740_60873028 | 60816113 | G | GTCTGTCT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0009 | a0001c0001t0009a0001c0001t0012a0001c0001t0017others(3): Show | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0012g0097others(5): Show | 8 | 236 | 0.0339 | 8 | c.249 others(25): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD8_chr14_21380199_21461123 | 21415506 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA18947.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0001a0002c0002t0001 | a0001c0001t0003g0142a0001c0001t0003g0144a0001c0003t0001g0075others(2): Show | 5 | 260 | 0.0192 | 8 | c.196 others(23): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 7/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21441890 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03453.hp1 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0082a0001c0001t0002g0010a0001c0001t0002g0012others(1): Show | 4 | 260 | 0.0154 | 8 | c.-21 others(29): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53049322 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02257.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(4): Show | a0001c0001t0002g0027a0001c0001t0002g0104a0001c0001t0002g0106others(10): Show | 15 | 406 | 0.0370 | 8 | c.-18 others(27): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53051768 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG01074.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0135a0001c0001t0001g0136others(6): Show | 21 | 406 | 0.0517 | 8 | c.-18 others(25): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53051763 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0004 | a0001c0001t0001g0168a0001c0005t0004g0233 | 2 | 238 | 0.0084 | 8 | c.-34 others(19): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3227 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53051768 | A | AATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG02257.hp1 HG02738.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(5): Show | a0001c0001t0001g0072a0001c0001t0001g0173a0001c0001t0003g0172others(7): Show | 10 | 238 | 0.0420 | 8 | c.-34 others(19): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3222 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53063358 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01255.hp1 HG01891.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0173others(10): Show | 13 | 238 | 0.0546 | 8 | c.-16 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53081839 | G | GTGAATGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(85): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0026others(85): Show | 88 | 238 | 0.3698 | 8 | c.-16 others(29): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53097354 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG06807.hp1 NA19066.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0002a0002c0002t0001 | a0001c0001t0003g0220a0001c0003t0002g0170a0001c0003t0002g0224others(1): Show | 4 | 238 | 0.0168 | 8 | c.-16 others(29): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53100453 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01074.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0013others(5): Show | a0001c0001t0001g0021a0001c0001t0001g0071a0001c0001t0001g0072others(36): Show | 39 | 238 | 0.1639 | 8 | c.-16 others(29): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53143358 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(55): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(11): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0025others(55): Show | 58 | 238 | 0.2437 | 8 | c.-16 others(29): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53146415 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(45): Show |
a0002a0004a0007 | a0002c0002a0002c0019a0004c0006others(1): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0014others(3): Show | a0002c0002t0001g0009a0002c0002t0001g0010a0002c0002t0001g0012others(45): Show | 48 | 238 | 0.2017 | 8 | c.-16 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53204058 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 NA19240.hp2 |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0011 | a0001c0005t0005g0017a0001c0005t0005g0018a0001c0005t0011g0228 | 3 | 238 | 0.0126 | 8 | c.145 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53217912 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03098.hp2 HG03225.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0006 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0188others(3): Show | 6 | 238 | 0.0252 | 8 | c.178 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHDH_chr3_53807335_53851419 | 53828162 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01081.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0009a0001c0001t0150a0001c0003t0022others(24): Show | a0001c0001t0009g0106a0001c0001t0150g0089a0001c0003t0022g0053others(41): Show | 47 | 392 | 0.1199 | 8 | c.-59 others(25): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
CHEK1_chr11_125620163_125662147 | 125657187 | T | TTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00673.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0023 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0021others(12): Show | 24 | 384 | 0.0625 | 8 | c.*18 others(19): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 41 | chr11 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28698228 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(85): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0009 | a0001c0001t0001a0001c0004t0001a0005c0009t0001 | a0001c0001t0001g0005a0001c0001t0001g0048a0001c0001t0001g0123others(85): Show | 88 | 384 | 0.2292 | 8 | c.100 others(27): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 9/14 | chr22 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28702135 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0026others(33): Show | 36 | 384 | 0.0938 | 8 | c.908 others(25): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 8/14 | chr22 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28708361 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01168.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0077a0001c0001t0001g0104others(22): Show | 25 | 384 | 0.0651 | 8 | c.846 others(25): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28708363 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00673.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0002t0001a0002c0011t0001 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0030others(23): Show | 26 | 384 | 0.0677 | 8 | c.846 others(25): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28718883 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00621.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0058a0001c0001t0001g0059others(10): Show | 13 | 384 | 0.0339 | 8 | c.683 others(23): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 5/14 | chr22 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132845781 | G | GGGTGACT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(50): Show |
a0001 | a0001c0004a0001c0015a0001c0016 | a0001c0004t0003a0001c0004t0007a0001c0004t0017others(12): Show | a0001c0004t0003g0003a0001c0004t0003g0011a0001c0004t0003g0188others(46): Show | 53 | 378 | 0.1402 | 8 | c.173 others(27): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 15/17 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132850964 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03453.hp2 HG03942.hp1 |
a0001a0003 | a0001c0005a0003c0003 | a0001c0005t0021a0001c0005t0078a0003c0003t0001 | a0001c0005t0021g0184a0001c0005t0078g0179a0003c0003t0001g0344 | 3 | 378 | 0.0079 | 8 | c.149 others(25): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 12/17 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132885419 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 NA18984.hp1 NA18999.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0013 | a0001c0001t0015a0001c0001t0086a0002c0002t0002others(3): Show | a0001c0001t0015g0300a0001c0001t0086g0299a0002c0002t0002g0122others(3): Show | 6 | 378 | 0.0159 | 8 | c.133 others(25): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 2/17 | chr12 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92920654 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01928.hp1 others(19): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0005a0003c0004others(4): Show | a0001c0001t0001a0001c0005t0001a0003c0004t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0026a0001c0005t0001g0024others(11): Show | 22 | 447 | 0.0492 | 8 | c.-27 others(19): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 2495 | chr14 | TogoVar | ||||||
CHI3L1_chr1_203173931_203191704 | 203191149 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(113): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(22): Show | 116 | 468 | 0.2479 | 8 | c.-45 others(19): Show |
CHI3L1 | ENSG00000133048.13 | transcript | ENST00000255409.8 | protein_coding | 4446 | chr1 | TogoVar | ||||||
CHI3L1_chr1_203173931_203191704 | 203191182 | T | TTTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01071.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0011a0001c0001t0002g0014a0001c0001t0004g0018others(3): Show | 10 | 468 | 0.0214 | 8 | c.-45 others(19): Show |
CHI3L1 | ENSG00000133048.13 | transcript | ENST00000255409.8 | protein_coding | 4479 | chr1 | TogoVar | ||||||
CHI3L2_chr1_111222713_111248440 | 111229681 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00673.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0003a0001c0002t0004a0001c0009t0003 | a0001c0001t0003g0033a0001c0001t0003g0090a0001c0002t0004g0008others(6): Show | 21 | 434 | 0.0484 | 8 | c.41- others(21): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHI3L2_chr1_111222713_111248440 | 111232349 | G | GCATTCAT others(1): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18940.hp2 NA18982.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0031a0001c0002t0004g0069a0001c0002t0004g0082 | 4 | 434 | 0.0092 | 8 | c.329 others(25): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHIC2_chr4_54004789_54069605 | 54058536 | T | TCACATAC others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0066 | 3 | 244 | 0.0123 | 8 | c.119 others(25): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
CHIC2_chr4_54004789_54069605 | 54062329 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0148 | 3 | 244 | 0.0123 | 8 | c.119 others(25): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68100604 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01346.hp1 HG01358.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0046a0001c0001t0002g0047a0001c0001t0003g0033others(7): Show | 10 | 276 | 0.0362 | 8 | c.351 others(25): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68113081 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01256.hp1 HG01258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0026 | a0001c0001t0001g0239a0001c0001t0001g0241a0001c0001t0001g0242others(6): Show | 9 | 276 | 0.0326 | 8 | c.350 others(25): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68125912 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172a0001c0001t0001g0193a0001c0001t0001g0197others(2): Show | 5 | 276 | 0.0181 | 8 | c.-47 others(19): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 4525 | chr11 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68125914 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG02965.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0124a0001c0001t0002g0131a0001c0001t0003g0116 | 3 | 276 | 0.0109 | 8 | c.-47 others(19): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 4527 | chr11 | TogoVar | ||||||
CHKB_chr22_50573963_50587849 | 50583192 | C | CCGGCGGG others(1): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02818.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0015others(1): Show | 6 | 416 | 0.0144 | 8 | c.-41 others(17): Show |
CHKB | ENSG00000100288.20 | transcript | ENST00000406938.3 | protein_coding | 344 | chr22 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 214956 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01258.hp2 others(8): Show |
a0001a0005a0023 | a0001c0001a0005c0005a0023c0018 | a0001c0001t0001a0001c0001t0042a0005c0005t0001others(1): Show | a0001c0001t0001g0157a0001c0001t0001g0158a0001c0001t0001g0199others(8): Show | 11 | 290 | 0.0379 | 8 | c.-17 others(29): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 226374 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01496.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0282a0001c0001t0002g0054a0001c0001t0003g0276others(2): Show | 5 | 290 | 0.0172 | 8 | c.-17 others(29): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 252361 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03490.hp1 NA18948.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0001 | a0001c0001t0001g0016a0001c0001t0009g0075a0002c0002t0001g0222others(1): Show | 4 | 290 | 0.0138 | 8 | c.-95 others(25): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 309392 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02698.hp1 HG04115.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020a0001c0001t0001g0093a0001c0001t0003g0255others(1): Show | 4 | 290 | 0.0138 | 8 | c.-94 others(27): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 314329 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01361.hp1 others(10): Show |
a0001a0007a0015 | a0001c0001a0001c0019a0007c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0019t0045others(2): Show | a0001c0001t0001g0133a0001c0001t0001g0142a0001c0001t0001g0161others(10): Show | 13 | 290 | 0.0448 | 8 | c.-94 others(25): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 345441 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02615.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0029a0001c0001t0037others(4): Show | a0001c0001t0002g0039a0001c0001t0029g0091a0001c0001t0037g0238others(4): Show | 7 | 290 | 0.0241 | 8 | c.848 others(23): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 393232 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0028others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(191): Show | 194 | 290 | 0.6690 | 8 | c.291 others(27): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHMP1B_chr18_11846413_11859444 | 11846464 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01993.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010 | a0001c0001t0001g0000a0001c0001t0007g0000a0001c0001t0010g0000 | 9 | 438 | 0.0206 | 8 | c.-50 others(19): Show |
CHMP1B | ENSG00000255112.3 | transcript | ENST00000526991.3 | protein_coding | 4948 | chr18 | TogoVar | ||||||
CHMP1B_chr18_11846413_11859444 | 11846464 | T | TATACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(216): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(10): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0009g0000others(10): Show | 219 | 438 | 0.5000 | 8 | c.-50 others(19): Show |
CHMP1B | ENSG00000255112.3 | transcript | ENST00000526991.3 | protein_coding | 4948 | chr18 | TogoVar | ||||||
CHMP3_chr2_86498430_86568443 | 86554814 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0018others(81): Show | 92 | 336 | 0.2738 | 8 | c.45+ others(23): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CHMP3_chr2_86498430_86568443 | 86554816 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03098.hp2 NA18983.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007a0001c0002t0011 | a0001c0001t0001g0274a0001c0002t0007g0297a0001c0002t0011g0298 | 3 | 336 | 0.0089 | 8 | c.45+ others(23): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 80988884 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01070.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0011a0001c0001t0002g0014others(14): Show | 29 | 438 | 0.0662 | 8 | c.-30 others(19): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2956 | chr17 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 80991416 | T | TAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(56): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0011a0001c0001t0002g0014others(18): Show | 59 | 438 | 0.1347 | 8 | c.-50 others(17): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 424 | chr17 | TogoVar |