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 | 196658407 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG00735.hp2 others(24): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0163 others(24): Show |
27 | 308 | 0.0877 | 16 | c.58+ others(31): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692719 | T | TCTTTCTC others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01175.hp1 others(30): Show |
a0001a0004a0008others(4): Show | a0001c0001a0004c0004a0008c0009others(4): Show | a0001c0001t0001a0004c0004t0001a0008c0009t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(30): Show |
33 | 308 | 0.1071 | 16 | c.133 others(35): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692876 | C | CACCTACC others(9): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01192.hp1 HG02109.hp1 others(8): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0007 | a0001c0001t0001a0004c0004t0001a0007c0007t0002 | a0001c0001t0001g0247 a0004c0004t0001g0057 a0004c0004t0001g0058 others(7): Show |
11 | 308 | 0.0357 | 16 | c.133 others(35): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692897 | C | CCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18972.hp1 NA19072.hp2 |
a0007a0013 | a0007c0007a0013c0014 | a0007c0007t0002a0013c0014t0001 | a0007c0007t0002g0300 a0013c0014t0001g0017 a0013c0014t0001g0018 |
3 | 308 | 0.0097 | 16 | c.133 others(35): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692901 | C | CCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18946.hp2 NA18951.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0133 a0001c0001t0001g0181 a0001c0001t0001g0200 others(6): Show |
9 | 308 | 0.0292 | 16 | c.133 others(35): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714635 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0025 | 1 | 308 | 0.0033 | 16 | c.151 others(33): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714635 | G | GTGTATAT others(9): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0022 | 1 | 308 | 0.0033 | 16 | c.151 others(33): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714666 | T | TAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0026 | 1 | 308 | 0.0033 | 16 | c.151 others(33): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATAGA others(9): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02886.hp2 |
a0004a0018 | a0004c0004a0018c0025 | a0004c0004t0001a0018c0025t0001 | a0004c0004t0001g0078 a0018c0025t0001g0194 |
2 | 308 | 0.0065 | 16 | c.151 others(33): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0017 | a0017c0022 | a0017c0022t0002 | a0017c0022t0002g0006 | 1 | 308 | 0.0033 | 16 | c.151 others(33): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03942.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0101 a0003c0003t0001g0124 |
2 | 308 | 0.0065 | 16 | c.151 others(33): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714701 | A | AGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG02698.hp1 homoSapiens_chm13v2.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0060 a0004c0004t0001g0061 |
2 | 308 | 0.0065 | 16 | c.151 others(33): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753295 | T | TAAATAAA others(9): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18950.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0001 | a0001c0001t0003g0148 a0002c0003t0001g0259 |
2 | 354 | 0.0057 | 16 | c.905 others(31): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753354 | T | TAAATAAA others(9): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 354 | 0.0028 | 16 | c.905 others(31): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753443 | T | TAAATAAA others(9): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0296 | 1 | 354 | 0.0028 | 16 | c.905 others(31): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753481 | T | TTATAATA others(9): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG03239.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 a0001c0002t0001g0126 a0001c0002t0001g0217 |
3 | 354 | 0.0085 | 16 | c.905 others(31): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109756888 | G | GGAAAGAA others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02055.hp2 HG02886.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0165 a0001c0002t0001g0035 a0001c0002t0001g0075 others(4): Show |
7 | 354 | 0.0198 | 16 | c.904 others(31): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109783811 | T | TAATATAT others(9): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 354 | 0.0028 | 16 | c.58- others(33): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109783812 | G | GAGATATT others(9): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19002.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0310 a0002c0003t0001g0311 |
2 | 354 | 0.0057 | 16 | c.58- others(33): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109783812 | G | GATATATA others(9): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01993.hp1 |
a0001a0007 | a0001c0002a0007c0014 | a0001c0002t0001a0007c0014t0001 | a0001c0002t0001g0073 a0007c0014t0001g0297 |
2 | 354 | 0.0057 | 16 | c.58- others(33): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201114013 | G | GATATATA others(9): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0197 | 1 | 234 | 0.0043 | 16 | c.-26 others(27): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2150 | chr2 | TogoVar | |||||||
CFTR_chr7_117475025_117673665 | 117490312 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | NA19065.hp1 NA19085.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188 a0002c0002t0001g0189 |
2 | 202 | 0.0099 | 16 | c.53+ others(33): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117499429 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG06807.hp2 |
a0001a0013 | a0001c0001a0013c0015 | a0001c0001t0002a0013c0015t0003 | a0001c0001t0002g0117 a0001c0001t0002g0176 a0013c0015t0003g0074 |
3 | 202 | 0.0149 | 16 | c.54- others(31): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117548333 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | NA19030.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0006 | a0001c0004t0001g0012 a0001c0006t0006g0005 |
2 | 202 | 0.0099 | 16 | c.121 others(33): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117558553 | C | CTAAATAA others(9): Show |
intron_variant | MODIFIER | HG01516.hp2 NA20805.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0010 a0001c0004t0001g0011 |
2 | 202 | 0.0099 | 16 | c.139 others(33): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117612009 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03688.hp2 NA19072.hp2 |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0028 | a0001c0001t0002a0002c0002t0002a0011c0028t0002 | a0001c0001t0002g0058 a0002c0002t0002g0088 a0011c0028t0002g0031 |
3 | 202 | 0.0149 | 16 | c.336 others(33): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73449476 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02004.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0002a0001c0002t0006a0001c0003t0001others(5): Show | a0001c0002t0002g0206 a0001c0002t0006g0314 a0001c0002t0006g0317 others(8): Show |
11 | 410 | 0.0268 | 16 | c.657 others(33): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73449508 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp1 others(35): Show |
a0001a0011 | a0001c0002a0001c0003a0011c0013 | a0001c0002t0007a0001c0002t0013a0001c0002t0024others(10): Show | a0001c0002t0007g0015 a0001c0002t0007g0049 a0001c0002t0007g0061 others(33): Show |
38 | 410 | 0.0927 | 16 | c.657 others(33): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(9): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG03225.hp1 |
a0002 | a0002c0001 | a0002c0001t0009 | a0002c0001t0009g0183 a0002c0001t0009g0201 |
2 | 410 | 0.0049 | 16 | c.-13 others(27): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | A | ATTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 0.0028 | 16 | c.*51 others(27): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57394101 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0021 | a0021c0035 | a0021c0035t0012 | a0021c0035t0012g0284 | 1 | 294 | 0.0034 | 16 | c.-16 others(35): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57396277 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 294 | 0.0034 | 16 | c.-16 others(35): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57409037 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01099.hp2 HG01884.hp1 others(3): Show |
a0001a0002a0018 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0014others(2): Show | a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0002g0212 others(3): Show |
6 | 294 | 0.0204 | 16 | c.-15 others(35): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57409037 | T | TCTCACAC others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0162 | 1 | 294 | 0.0034 | 16 | c.-15 others(35): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57413206 | T | TCTCTCTT others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG02055.hp2 others(21): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0039a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0044 a0001c0001t0001g0126 a0001c0001t0001g0127 others(21): Show |
24 | 294 | 0.0816 | 16 | c.-15 others(35): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57413206 | T | TCTCTCTT others(9): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG06807.hp2 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0021a0002c0002t0014a0006c0007t0009 | a0001c0001t0021g0116 a0002c0002t0014g0121 a0006c0007t0009g0122 |
3 | 294 | 0.0102 | 16 | c.-15 others(35): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03139.hp1 NA20129.hp1 |
a0001a0006 | a0001c0039a0006c0007 | a0001c0039t0010a0006c0007t0005 | a0001c0039t0010g0046 a0006c0007t0005g0027 |
2 | 294 | 0.0068 | 16 | c.169 others(33): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GGAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0092 | 1 | 294 | 0.0034 | 16 | c.169 others(33): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | chr15 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116923 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0114 | 1 | 352 | 0.0028 | 16 | c.-12 others(33): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGRRF1_chr14_54504906_54544292 | 54505924 | T | TAGTGAGC others(9): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 338 | 0.0030 | 16 | c.-40 others(27): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 3981 | chr14 | TogoVar | |||||||
CGRRF1_chr14_54504906_54544292 | 54535359 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01099.hp1 others(43): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0026 others(26): Show |
46 | 338 | 0.1361 | 16 | c.571 others(33): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54538849 | G | GAAATAAC others(9): Show |
3_prime_UTR_variant | MODIFIER | NA18966.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0027 a0001c0001t0008g0100 |
2 | 338 | 0.0059 | 16 | c.*47 others(25): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 6/6 | 488 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4401608 | A | AAAGGAAG others(9): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00733.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0003others(3): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 others(30): Show |
33 | 384 | 0.0859 | 16 | c.-11 others(27): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 1031 | chr19 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02165.hp1 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0234 others(4): Show |
7 | 384 | 0.0182 | 16 | c.104 others(31): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4411644 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01109.hp1 HG01255.hp1 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0002c0012others(3): Show | a0001c0003t0003a0002c0002t0002a0002c0012t0002others(3): Show | a0001c0003t0003g0283 a0001c0003t0003g0288 a0001c0003t0003g0289 others(20): Show |
23 | 384 | 0.0599 | 16 | c.960 others(33): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427136 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 384 | 0.0026 | 16 | c.137 others(35): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0305 | 1 | 346 | 0.0029 | 16 | c.260 others(33): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 others(1): Show |
4 | 346 | 0.0116 | 16 | c.260 others(33): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0084 |
3 | 346 | 0.0087 | 16 | c.260 others(33): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36420336 | G | GTTCATTC others(9): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 346 | 0.0029 | 16 | c.*39 others(27): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 1322 | chr21 | TogoVar |