view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFH_chr1_196647043_196752504 | 196692748 | TTCTTTCT others(3): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0292 | 1 | 308 | 0.0033 | -10 | c.133 others(29): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196693955 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02970.hp2 NA19043.hp2 |
a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0246 a0005c0005t0003g0292 |
2 | 308 | 0.0065 | -10 | c.133 others(29): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714635 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG03098.hp1 HG03486.hp2 others(2): Show |
a0001a0005 | a0001c0008a0005c0005 | a0001c0008t0001a0005c0005t0002 | a0001c0008t0001g0176 a0005c0005t0002g0005 a0005c0005t0002g0010 others(2): Show |
5 | 308 | 0.0162 | -10 | c.151 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714662 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02970.hp2 NA18971.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0003 | a0001c0001t0001g0224 a0005c0005t0003g0292 |
2 | 308 | 0.0065 | -10 | c.151 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714664 | TATATAGA others(3): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0174 | 1 | 308 | 0.0033 | -10 | c.151 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753048 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01070.hp1 others(65): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 others(64): Show |
68 | 354 | 0.1921 | -10 | c.905 others(25): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109756967 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 354 | 0.0028 | -10 | c.904 others(25): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201131849 | ACCTTGTT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0088 | 1 | 234 | 0.0043 | -10 | c.282 others(27): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201134640 | TTAAAATA others(3): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0001t0033a0001c0002t0021others(4): Show | a0001c0001t0002g0076 a0001c0001t0033g0048 a0001c0002t0021g0066 others(5): Show |
8 | 234 | 0.0342 | -10 | c.388 others(27): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201161738 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 234 | 0.0043 | -10 | c.130 others(27): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201177126 | TTATAAAT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02723.hp1 |
a0001 | a0001c0002 | a0001c0002t0044a0001c0002t0045 | a0001c0002t0044g0065 a0001c0002t0045g0043 |
2 | 234 | 0.0086 | -10 | c.*13 others(23): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 440 | chr2 | TogoVar | |||||||
CFTR_chr7_117475025_117673665 | 117490312 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0002a0001c0004t0002a0001c0005t0003 | a0001c0001t0002g0195 a0001c0004t0002g0002 a0001c0005t0003g0194 others(2): Show |
5 | 202 | 0.0248 | -10 | c.53+ others(27): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117612013 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01258.hp2 HG02280.hp2 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0003a0002c0002t0002 | a0001c0006t0003g0142 a0002c0002t0002g0146 |
2 | 202 | 0.0099 | -10 | c.336 others(27): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117641122 | TGAAAATC others(3): Show |
T | intron_variant | MODIFIER | HG02523.hp1 NA18960.hp1 |
a0001a0011 | a0001c0001a0011c0028 | a0001c0001t0002a0011c0028t0002 | a0001c0001t0002g0023 a0011c0028t0002g0031 |
2 | 202 | 0.0099 | -10 | c.371 others(29): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73426281 | CAAAATAA others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0320 a0001c0006t0003g0321 |
2 | 410 | 0.0049 | -10 | c.121 others(27): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
CGB7_chr19_49049274_49062749 | 49060036 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0026 | 1 | 422 | 0.0024 | -10 | c.-39 others(21): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57374538 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01070.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0080 a0001c0001t0001g0102 a0001c0001t0002g0100 others(18): Show |
21 | 294 | 0.0714 | -10 | c.-20 others(21): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1966 | chr15 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57383595 | CCTTTTCT others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02683.hp1 NA18964.hp1 others(1): Show |
a0001a0006a0028 | a0001c0001a0006c0007a0028c0034 | a0001c0001t0002a0006c0007t0009a0028c0034t0004 | a0001c0001t0002g0216 a0001c0001t0002g0219 a0006c0007t0009g0122 others(1): Show |
4 | 294 | 0.0136 | -10 | 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 | 57409037 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG03669.hp1 |
a0001a0002 | a0001c0001a0002c0040 | a0001c0001t0002a0002c0040t0003 | a0001c0001t0002g0070 a0002c0040t0003g0069 |
2 | 294 | 0.0068 | -10 | c.-15 others(29): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57437619 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01993.hp2 HG02280.hp2 HG02717.hp1 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0002a0001c0001t0021a0002c0002t0014others(1): Show | a0001c0001t0002g0042 a0001c0001t0002g0219 a0001c0001t0021g0116 others(2): Show |
5 | 294 | 0.0170 | -10 | c.-15 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57447805 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0038 | a0002c0038t0012 | a0002c0038t0012g0123 | 1 | 294 | 0.0034 | -10 | c.180 others(29): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57464670 | TTTTCCTT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(69): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0015others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0044 a0001c0001t0001g0108 a0001c0001t0001g0126 others(68): Show |
72 | 294 | 0.2449 | -10 | 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 | 57473896 | CTTCTTTT others(3): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0026 | a0002c0026t0018 | a0002c0026t0018g0166 | 1 | 294 | 0.0034 | -10 | c.240 others(31): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57475492 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00738.hp1 others(23): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0015others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(11): Show | a0001c0001t0001g0049 a0001c0001t0001g0078 a0001c0001t0001g0080 others(23): Show |
26 | 294 | 0.0884 | -10 | c.240 others(31): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57498245 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | NA18951.hp1 NA19085.hp1 |
a0001a0007 | a0001c0011a0007c0009 | a0001c0011t0002a0007c0009t0003 | a0001c0011t0002g0110 a0007c0009t0003g0076 |
2 | 294 | 0.0068 | -10 | c.240 others(31): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57513253 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 294 | 0.0034 | -10 | 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(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(65): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0059 a0001c0001t0001g0104 a0001c0001t0002g0001 others(64): Show |
68 | 294 | 0.2313 | -10 | c.320 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116871 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01168.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0180 a0001c0001t0001g0311 a0001c0002t0001g0150 others(7): Show |
13 | 352 | 0.0369 | -10 | c.-12 others(27): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGRRF1_chr14_54504906_54544292 | 54507315 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 338 | 0.0030 | -10 | c.-26 others(21): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 2590 | chr14 | TogoVar | |||||||
CGRRF1_chr14_54504906_54544292 | 54513566 | TTTATGTT others(3): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01168.hp2 HG02602.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(2): Show |
5 | 338 | 0.0148 | -10 | c.104 others(27): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54520529 | AATTTTCT others(3): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 338 | 0.0030 | -10 | c.105 others(27): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
CH25H_chr10_89200629_89212317 | 89201056 | ATGTGTGT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0000 a0001c0001t0009g0000 |
8 | 384 | 0.0208 | -10 | c.*54 others(21): Show |
CH25H | ENSG00000138135.7 | transcript | ENST00000371852.4 | protein_coding | 4572 | chr10 | TogoVar | |||||||
CHAC1_chr15_40948471_40961512 | 40951595 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 420 | 0.0024 | -10 | c.-19 others(21): Show |
CHAC1 | ENSG00000128965.13 | transcript | ENST00000617768.5 | protein_coding | 1875 | chr15 | TogoVar | |||||||
CHADL_chr22_41224513_41245931 | 41242143 | CATATATA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(30): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0006others(1): Show | a0001c0001t0001a0003c0005t0001a0004c0006t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(23): Show |
33 | 414 | 0.0797 | -10 | c.-12 others(21): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 1213 | chr22 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 384 | 0.0026 | -10 | c.104 others(25): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4415234 | ACTTCAAG others(3): Show |
A | intron_variant | MODIFIER | NA19055.hp1 | a0015 | a0015c0017 | a0015c0017t0002 | a0015c0017t0002g0090 | 1 | 384 | 0.0026 | -10 | c.961 others(27): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4418409 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 384 | 0.0026 | -10 | c.101 others(27): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427136 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 |
a0007 | a0007c0010 | a0007c0010t0006 | a0007c0010t0006g0367 a0007c0010t0006g0368 |
2 | 384 | 0.0052 | -10 | c.137 others(29): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427317 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01928.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0122 a0001c0003t0003g0293 |
2 | 384 | 0.0052 | -10 | c.137 others(29): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36381107 | CTTCTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0034 | 1 | 346 | 0.0029 | -10 | c.-44 others(21): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 4284 | chr21 | TogoVar | |||||||
CHAF1B_chr21_36380392_36424015 | 36389759 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02559.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | 346 | 0.0058 | -10 | c.260 others(27): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36396358 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 346 | 0.0029 | -10 | c.482 others(27): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36399036 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 346 | 0.0029 | -10 | c.579 others(25): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49639565 | ACACATAT others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01168.hp1 others(4): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0031 | a0001c0001t0005a0001c0001t0007a0002c0002t0007others(2): Show | a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0007g0179 others(4): Show |
7 | 418 | 0.0168 | -10 | c.111 others(29): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 7/14 | chr10 | TogoVar | |||||||
CHAT_chr10_49609037_49672942 | 49656283 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(151): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0011others(20): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(42): Show | a0001c0001t0003g0019 a0001c0001t0003g0031 a0001c0001t0003g0032 others(140): Show |
154 | 418 | 0.3684 | -10 | c.183 others(27): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132807606 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(90): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 others(90): Show |
93 | 310 | 0.3000 | -10 | c.525 others(29): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132821747 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(69): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0034 others(69): Show |
72 | 310 | 0.2323 | -10 | c.524 others(29): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132882461 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(60): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0028 others(60): Show |
63 | 310 | 0.2032 | -10 | c.453 others(27): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132914123 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 others(14): Show |
17 | 310 | 0.0548 | -10 | c.370 others(29): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132955173 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 310 | 0.0032 | -10 | c.369 others(29): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar |