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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFHR1_chr1_196814731_196837189 | 196821736 | AGTGAGTG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(114): Show |
a0001 | a0001c0002a0001c0003a0001c0011 | a0001c0002t0002a0001c0003t0002a0001c0011t0001 | a0001c0002t0002g0003a0001c0002t0002g0006a0001c0002t0002g0009others(51): Show | 117 | 275 | 0.4255 | -8 | c.58+ others(23): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR2_chr1_196938738_196964622 | 196954561 | TGCCCTAG others(1): Show |
T | intron_variant | MODIFIER | HG02523.hp1 NA18945.hp1 NA18969.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0013a0002c0004t0001g0050a0002c0004t0001g0051 | 6 | 370 | 0.0162 | -8 | c.431 others(25): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 3/4 | chr1 | TogoVar | ||||||
CFHR2_chr1_196938738_196964622 | 196958393 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA18943.hp2 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 3 | 370 | 0.0081 | -8 | c.613 others(23): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR3_chr1_196769840_196800407 | 196773685 | TATATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(36): Show |
a0002a0004a0005 | a0002c0001a0004c0006a0005c0007 | a0002c0001t0002a0002c0001t0014a0002c0001t0015others(2): Show | a0002c0001t0002g0003a0002c0001t0002g0004a0002c0001t0002g0005others(23): Show | 39 | 261 | 0.1494 | -8 | c.-12 others(19): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 1154 | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196979256 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0049others(2): Show | 7 | 356 | 0.0197 | -8 | c.58+ others(23): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 196999683 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02630.hp2 others(2): Show |
a0002a0009 | a0002c0002a0009c0013 | a0002c0002t0001a0009c0013t0003 | a0002c0002t0001g0016a0002c0002t0001g0172a0009c0013t0003g0122 | 5 | 356 | 0.0140 | -8 | c.114 others(27): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 196999722 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00609.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0020others(19): Show | 37 | 356 | 0.1039 | -8 | c.114 others(27): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196689027 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(161): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0008a0001c0010others(10): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(10): Show | a0001c0001t0001g0016a0001c0001t0001g0037a0001c0001t0001g0040others(161): Show | 164 | 308 | 0.5325 | -8 | c.965 others(23): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196692556 | CTTTCTTC others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp1 HG03453.hp2 others(3): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0029a0005c0005t0002g0293a0005c0005t0002g0297others(3): Show | 6 | 308 | 0.0195 | -8 | c.133 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196692746 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01099.hp2 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0068a0001c0010t0001g0277a0002c0002t0001g0035others(34): Show | 37 | 308 | 0.1201 | -8 | c.133 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109736080 | CACTCCAC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02071.hp2 NA19081.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0208a0001c0001t0001g0232a0002c0003t0001g0325 | 3 | 354 | 0.0085 | -8 | c.*48 others(19): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 4614 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109756888 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00738.hp2 others(38): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0005others(3): Show | a0001c0001t0001g0085a0001c0001t0001g0110a0001c0001t0001g0157others(38): Show | 41 | 354 | 0.1158 | -8 | c.904 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201140755 | GTATGTAT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00741.hp2 others(48): Show |
a0001a0003 | a0001c0002a0001c0007a0003c0008 | a0001c0002t0007a0001c0002t0008a0001c0002t0011others(30): Show | a0001c0002t0007g0006a0001c0002t0007g0036a0001c0002t0007g0037others(46): Show | 51 | 234 | 0.2180 | -8 | c.606 others(23): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117490312 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(1): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0024 | a0001c0001t0002a0001c0005t0003a0007c0024t0003 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(1): Show | 4 | 202 | 0.0198 | -8 | c.53+ others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117550286 | GAGCCATG others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0003 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | 202 | 0.0198 | -8 | c.139 others(27): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73427278 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG06807.hp1 NA18957.hp1 others(3): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0007 | a0001c0003t0004a0002c0001t0001a0003c0007t0006others(1): Show | a0001c0003t0004g0038a0001c0003t0004g0041a0002c0001t0001g0151others(3): Show | 6 | 410 | 0.0146 | -8 | c.121 others(27): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57374536 | ATTTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG02723.hp2 others(2): Show |
a0003a0006a0009others(2): Show | a0003c0003a0006c0007a0009c0014others(2): Show | a0003c0003t0004a0006c0007t0005a0009c0014t0006others(2): Show | a0003c0003t0004g0290a0006c0007t0005g0291a0009c0014t0006g0292others(2): Show | 5 | 294 | 0.0170 | -8 | c.-20 others(19): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1968 | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57374538 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 HG02071.hp2 HG02080.hp2 others(30): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0011others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0082a0001c0001t0001g0087a0001c0001t0001g0109others(30): Show | 33 | 294 | 0.1122 | -8 | c.-20 others(19): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1966 | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57405803 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01261.hp1 others(5): Show |
a0001a0002 | a0001c0005a0001c0015a0002c0008 | a0001c0005t0002a0001c0005t0004a0001c0015t0001others(2): Show | a0001c0005t0002g0016a0001c0005t0002g0167a0001c0005t0002g0214others(5): Show | 8 | 294 | 0.0272 | -8 | c.-16 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57475492 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(73): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0015others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0044a0001c0001t0001g0108a0001c0001t0001g0126others(73): Show | 76 | 294 | 0.2585 | -8 | c.240 others(29): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57529559 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG01978.hp1 HG02300.hp1 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(7): Show | a0001c0001t0001g0102a0001c0001t0002g0213a0001c0001t0002g0240others(10): Show | 13 | 294 | 0.0442 | -8 | c.320 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGREF1_chr2_27095594_27124128 | 27111768 | GGCCCCCG others(1): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03139.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169a0001c0001t0001g0180a0001c0001t0001g0184others(2): Show | 5 | 352 | 0.0142 | -8 | c.-12 others(25): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116871 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0181a0001c0001t0001g0182others(5): Show | 10 | 352 | 0.0284 | -8 | c.-12 others(25): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CH25H_chr10_89200629_89212317 | 89201056 | ATGTGTGT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02738.hp2 HG03704.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 384 | 0.0078 | -8 | c.*54 others(19): Show |
CH25H | ENSG00000138135.7 | transcript | ENST00000371852.4 | protein_coding | 4572 | chr10 | TogoVar | ||||||
CHADL_chr22_41224513_41245931 | 41242143 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(50): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(36): Show | 53 | 414 | 0.1280 | -8 | c.-12 others(19): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 1213 | chr22 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427136 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02132.hp1 HG02155.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0022a0005c0006 | a0001c0001t0001a0001c0022t0001a0005c0006t0002 | a0001c0001t0001g0127a0001c0001t0001g0130a0001c0001t0001g0132others(5): Show | 8 | 384 | 0.0208 | -8 | c.137 others(27): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49624722 | TGGATGGA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02886.hp2 HG02896.hp1 others(7): Show |
a0001a0004a0014 | a0001c0001a0001c0017a0004c0025others(1): Show | a0001c0001t0004a0001c0001t0014a0001c0001t0015others(4): Show | a0001c0001t0004g0226a0001c0001t0004g0227a0001c0001t0014g0281others(6): Show | 10 | 418 | 0.0239 | -8 | c.753 others(23): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49639540 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(87): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0057a0001c0001t0001g0059a0001c0001t0001g0060others(80): Show | 90 | 418 | 0.2153 | -8 | c.111 others(27): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49647740 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01071.hp2 others(35): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(12): Show | a0001c0001t0001g0021a0001c0001t0001g0025a0001c0001t0001g0215others(31): Show | 38 | 418 | 0.0909 | -8 | c.128 others(25): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49648726 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01943.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0318a0001c0001t0003g0353a0001c0001t0004g0109others(8): Show | 12 | 418 | 0.0287 | -8 | c.138 others(25): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49656283 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG01257.hp1 HG01258.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0320a0001c0001t0002g0185a0001c0001t0002g0198others(10): Show | 14 | 418 | 0.0335 | -8 | c.183 others(25): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHCHD3_chr7_132779870_133087090 | 132807606 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00733.hp2 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0017others(37): Show | 40 | 310 | 0.1290 | -8 | c.525 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132834947 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02132.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0145a0001c0001t0001g0220a0001c0001t0001g0254others(1): Show | 4 | 310 | 0.0129 | -8 | c.524 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132882461 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01168.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0073a0001c0001t0001g0074others(5): Show | 8 | 310 | 0.0258 | -8 | c.453 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132914123 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02135.hp2 HG03704.hp1 NA18959.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0108a0001c0001t0001g0194others(1): Show | 4 | 310 | 0.0129 | -8 | c.370 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132967625 | TTAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02257.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0141others(13): Show | 16 | 310 | 0.0516 | -8 | c.369 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132990943 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0047a0001c0001t0001g0048others(2): Show | 5 | 310 | 0.0161 | -8 | c.252 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133006488 | TAAATAAA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00609.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0095a0001c0001t0001g0158others(45): Show | 48 | 310 | 0.1548 | -8 | c.251 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD5_chr2_112579609_112594040 | 112580082 | ATTTTTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01261.hp2 NA18940.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0002g0002 | 7 | 444 | 0.0158 | -8 | c.-45 others(19): Show |
CHCHD5 | ENSG00000125611.16 | transcript | ENST00000324913.10 | protein_coding | 4526 | chr2 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126905540 | TGGATGTC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(6): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(153): Show | 156 | 216 | 0.7222 | -8 | c.496 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126923136 | CATCCAAG others(1): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | 216 | 0.0278 | -8 | c.566 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126956600 | CGAGAGAG others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(76): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0082a0001c0001t0001g0083others(76): Show | 79 | 216 | 0.3657 | -8 | c.567 others(23): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHD1_chr5_98848985_98934007 | 98851539 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00741.hp2 others(52): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0001c0003t0005a0001c0003t0006others(8): Show | a0001c0003t0002g0002a0001c0003t0002g0048a0001c0003t0002g0057others(49): Show | 55 | 334 | 0.1647 | -8 | c.*48 others(19): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2445 | chr5 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92940784 | AAAATATA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01123.hp2 HG01192.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005a0001c0017 | a0001c0001t0001a0001c0001t0008a0001c0005t0004others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0035a0001c0001t0001g0036others(7): Show | 11 | 306 | 0.0360 | -8 | c.693 others(25): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92940843 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(44): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0054others(42): Show | 47 | 306 | 0.1536 | -8 | c.693 others(23): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92940986 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0002t0002g0231a0001c0002t0003g0228a0001c0002t0005g0220others(4): Show | 7 | 306 | 0.0229 | -8 | c.693 others(23): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92965565 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01106.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0004t0010 | a0001c0001t0001g0259a0001c0001t0006g0260a0001c0001t0006g0261others(8): Show | 11 | 306 | 0.0360 | -8 | c.200 others(27): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92999083 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0026others(112): Show | 118 | 306 | 0.3856 | -8 | c.400 others(25): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 31/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 93032862 | AGGGTTCG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01257.hp1 HG01258.hp1 others(4): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(1): Show | a0001c0003t0012a0001c0004t0007a0001c0005t0004others(1): Show | a0001c0003t0012g0126a0001c0003t0012g0134a0001c0004t0007g0014others(3): Show | 7 | 306 | 0.0229 | -8 | c.*81 others(19): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 4867 | chr15 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607671 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp1 HG04115.hp1 NA18951.hp1 others(1): Show |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0001a0004c0007t0001 | a0002c0001t0001g0003a0002c0001t0001g0028a0002c0001t0001g0160others(1): Show | 4 | 374 | 0.0107 | -8 | c.-45 others(17): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 293 | chr12 | TogoVar |