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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD5_chr1_6096787_6185321 | 6106920 | ATGGAGGG others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(109): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(17): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(52): Show | a0001c0001t0003g0079a0001c0001t0003g0097a0001c0001t0003g0114others(109): Show | 112 | 320 | 0.3500 | -8 | c.557 others(25): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 38/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6150000 | AATGGATG others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(170): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(29): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(86): Show | a0001c0001t0003g0079a0001c0001t0003g0097a0001c0001t0003g0114others(170): Show | 173 | 320 | 0.5406 | -8 | c.995 others(23): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 7/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6150367 | AGGATGGA others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp2 HG02615.hp2 others(5): Show |
a0001a0002 | a0001c0009a0001c0010a0001c0019others(2): Show | a0001c0009t0011a0001c0009t0079a0001c0010t0003others(4): Show | a0001c0009t0011g0240a0001c0009t0011g0252a0001c0009t0079g0308others(5): Show | 8 | 320 | 0.0250 | -8 | c.994 others(23): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 7/41 | chr1 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41419554 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01255.hp2 HG01258.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0015a0001c0002t0001g0145a0001c0002t0001g0152others(31): Show | 34 | 324 | 0.1049 | -8 | c.612 others(25): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41498807 | ATGTATGT others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0144a0001c0001t0009g0073a0001c0001t0009g0075 | 3 | 324 | 0.0093 | -8 | c.915 others(23): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41554377 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02698.hp1 HG03239.hp1 HG06807.hp2 |
a0004 | a0004c0013a0004c0026 | a0004c0013t0001a0004c0026t0001 | a0004c0013t0001g0001a0004c0013t0001g0002a0004c0026t0001g0003 | 3 | 324 | 0.0093 | -8 | c.-23 others(25): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41610760 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(69): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(69): Show | 72 | 324 | 0.2222 | -8 | c.-24 others(25): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60675165 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(39): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0011a0001c0001t0001g0069a0001c0001t0001g0151others(39): Show | 42 | 236 | 0.1780 | -8 | c.-40 others(19): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3574 | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60765204 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0006others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | 236 | 0.7585 | -8 | c.166 others(29): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60809668 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp2 others(56): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(23): Show | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(56): Show | 59 | 236 | 0.2500 | -8 | c.249 others(27): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60823390 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(6): Show |
a0001a0015 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0014a0001c0003t0004a0001c0003t0030others(2): Show | a0001c0001t0014g0233a0001c0003t0004g0107a0001c0003t0004g0108others(6): Show | 9 | 236 | 0.0381 | -8 | c.320 others(25): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60823394 | TATAGATA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00642.hp1 others(43): Show |
a0001a0006a0018 | a0001c0001a0001c0002a0006c0037others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0232a0001c0001t0002g0116others(43): Show | 46 | 236 | 0.1949 | -8 | c.320 others(25): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD8_chr14_21380199_21461123 | 21396566 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0004 | 3 | 260 | 0.0115 | -8 | c.505 others(25): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 27/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21415506 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0167a0001c0001t0002g0039a0001c0001t0002g0040others(1): Show | 4 | 260 | 0.0154 | -8 | c.196 others(23): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 7/37 | chr14 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53049322 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG02015.hp2 HG02132.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0022 | a0002c0002t0005g0009a0002c0002t0005g0124a0002c0002t0022g0192 | 9 | 406 | 0.0222 | -8 | c.-18 others(27): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53051768 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG02083.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0039others(1): Show | a0001c0001t0002g0049a0001c0001t0002g0127a0001c0001t0006g0016others(3): Show | 11 | 406 | 0.0271 | -8 | c.-18 others(25): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53051768 | AATATATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(2): Show | a0001c0001t0001g0008a0001c0001t0003g0112a0001c0003t0002g0003others(3): Show | 6 | 238 | 0.0252 | -8 | c.-34 others(19): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3222 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53063358 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp2 HG02451.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(3): Show | a0001c0001t0001g0225a0001c0001t0001g0230a0001c0001t0002g0171others(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 | 53070485 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02809.hp2 HG03486.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002 | a0001c0001t0001a0001c0014t0001a0002c0002t0001 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0014t0001g0115others(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 | 53082200 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(9): Show | a0001c0001t0001g0119a0001c0001t0001g0159a0001c0001t0001g0160others(45): Show | 48 | 238 | 0.2017 | -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 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(144): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0014a0001c0001t0001g0025a0001c0001t0001g0027others(144): Show | 147 | 238 | 0.6177 | -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 | 53108511 | TATAGATA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01891.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0045a0001c0001t0001g0067others(27): Show | 30 | 238 | 0.1261 | -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 | 53124467 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02897.hp1 HG02922.hp2 others(6): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0018 | a0001c0005t0004g0104a0001c0005t0004g0231a0001c0005t0004g0232others(6): Show | 9 | 238 | 0.0378 | -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 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG01884.hp2 others(10): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0001c0005t0004a0001c0005t0012others(1): Show | a0001c0005t0001g0215a0001c0005t0004g0078a0001c0005t0004g0097others(10): Show | 13 | 238 | 0.0546 | -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 | 53170578 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02970.hp1 others(6): Show |
a0001a0009 | a0001c0005a0009c0018 | a0001c0005t0005a0001c0005t0011a0009c0018t0005 | a0001c0005t0005g0017a0001c0005t0005g0018a0001c0005t0005g0032others(6): Show | 9 | 238 | 0.0378 | -8 | c.145 others(29): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53171853 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02486.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0005 | a0001c0001t0001g0211a0001c0001t0003g0022a0001c0001t0003g0079others(10): Show | 13 | 238 | 0.0546 | -8 | c.145 others(29): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53171861 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02080.hp2 NA18989.hp2 |
a0001 | a0001c0003a0001c0005a0001c0017 | a0001c0003t0002a0001c0005t0001a0001c0017t0002 | a0001c0003t0002g0070a0001c0005t0001g0215a0001c0017t0002g0237 | 3 | 238 | 0.0126 | -8 | c.145 others(29): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53197558 | TTTTAAAT others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022a0001c0001t0003g0079a0001c0001t0003g0096others(16): Show | 19 | 238 | 0.0798 | -8 | c.145 others(29): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53204058 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(42): Show |
a0002a0004a0007 | a0002c0002a0002c0019a0004c0006others(1): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0014others(3): Show | a0002c0002t0001g0009a0002c0002t0001g0010a0002c0002t0001g0012others(42): Show | 45 | 238 | 0.1891 | -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 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02257.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0003c0004t0001 | a0001c0001t0002g0171a0001c0001t0002g0175a0001c0001t0003g0022others(15): Show | 18 | 238 | 0.0756 | -8 | c.178 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53283406 | AATGTGCT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00621.hp2 others(38): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0015a0001c0003t0002others(8): Show | a0001c0001t0001g0159a0001c0001t0015g0166a0001c0003t0002g0002others(38): Show | 41 | 238 | 0.1723 | -8 | c.496 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHEK1_chr11_125620163_125662147 | 125636346 | CTTTACTC others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG02145.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0005g0008a0001c0001t0005g0044a0001c0001t0005g0045others(11): Show | 20 | 384 | 0.0521 | -8 | c.718 others(23): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CHEK2_chr22_28682743_28746820 | 28704121 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01071.hp2 others(50): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0017others(49): Show | 53 | 384 | 0.1380 | -8 | c.847 others(23): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28718883 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG04228.hp2 NA18994.hp2 NA20905.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0060a0001c0001t0001g0079a0001c0002t0001g0363 | 3 | 384 | 0.0078 | -8 | c.683 others(23): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 5/14 | chr22 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28729540 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG02486.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0102others(12): Show | 15 | 384 | 0.0391 | -8 | c.320 others(25): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132850964 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00733.hp1 others(37): Show |
a0001a0002a0004 | a0001c0004a0001c0015a0001c0016others(3): Show | a0001c0004t0003a0001c0004t0017a0001c0004t0022others(12): Show | a0001c0004t0003g0003a0001c0004t0003g0011a0001c0004t0003g0188others(34): Show | 40 | 378 | 0.1058 | -8 | c.149 others(25): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 12/17 | chr12 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92937954 | AGTTTGTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG00741.hp1 others(6): Show |
a0001a0003a0021 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0003t0002a0003c0004t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0069a0001c0003t0002g0006others(4): Show | 9 | 447 | 0.0201 | -8 | c.*30 others(19): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 2670 | chr14 | TogoVar | ||||||
CHI3L1_chr1_203173931_203191704 | 203187301 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02145.hp2 HG03516.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0002g0006a0001c0001t0005g0047others(2): Show | 6 | 468 | 0.0128 | -8 | c.-68 others(17): Show |
CHI3L1 | ENSG00000133048.13 | transcript | ENST00000255409.8 | protein_coding | 598 | chr1 | TogoVar | ||||||
CHI3L1_chr1_203173931_203191704 | 203191149 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(152): Show |
a0001a0002a0008 | a0001c0001a0001c0006a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(36): Show | 155 | 468 | 0.3312 | -8 | c.-45 others(19): Show |
CHI3L1 | ENSG00000133048.13 | transcript | ENST00000255409.8 | protein_coding | 4446 | chr1 | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73594969 | AAATATCA others(1): Show |
A | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 208 | 0.0048 | -8 | c.507 others(27): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73655643 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 208 | 0.0048 | -8 | c.508 others(27): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73655645 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00673.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0060others(78): Show | 81 | 208 | 0.3894 | -8 | c.508 others(27): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73655647 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG02970.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006 | 3 | 208 | 0.0144 | -8 | c.508 others(27): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73655649 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02647.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0022 | a0001c0001t0003g0063a0001c0001t0003g0064a0001c0001t0003g0065others(13): Show | 16 | 208 | 0.0769 | -8 | c.508 others(27): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHL1_chr3_191763_414417 | 226775 | CAATCTTT others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01099.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0134others(13): Show | 16 | 290 | 0.0552 | -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 | 314329 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp1 HG02809.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0026others(4): Show | a0001c0001t0001g0185a0001c0001t0001g0233a0002c0002t0002g0049others(5): Show | 8 | 290 | 0.0276 | -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 | 322645 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01071.hp1 others(47): Show |
a0002a0003a0006others(4): Show | a0002c0002a0002c0028a0003c0003others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(12): Show | a0002c0002t0001g0018a0002c0002t0001g0022a0002c0002t0001g0026others(47): Show | 50 | 290 | 0.1724 | -8 | c.91+ others(23): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 324605 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02976.hp1 HG03225.hp1 others(4): Show |
a0001a0003a0008others(2): Show | a0001c0001a0003c0003a0008c0007others(2): Show | a0001c0001t0042a0003c0003t0001a0003c0003t0011others(3): Show | a0001c0001t0042g0159a0003c0003t0001g0219a0003c0003t0011g0143others(4): Show | 7 | 290 | 0.0241 | -8 | c.92- others(23): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 331209 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(198): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0019a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(198): Show | 201 | 290 | 0.6931 | -8 | c.385 others(25): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 345459 | TTTATTTA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(62): Show |
a0001a0002a0009others(3): Show | a0001c0001a0002c0002a0002c0028others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0020a0001c0001t0001g0029others(62): Show | 65 | 290 | 0.2241 | -8 | c.848 others(23): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |