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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 |
a0002 | a0002c0001a0002c0011 | a0002c0001t0001a0002c0011t0001 | a0002c0001t0001g0222 a0002c0011t0001g0276 |
2 | 79 | 0.0253 | 30 | c.117 others(49): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(23): Show |
intron_variant | MODIFIER | NA18977.hp2 NA18998.hp1 NA19006.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 a0001c0002t0001g0295 a0001c0002t0001g0300 others(1): Show |
4 | 81 | 0.0494 | 30 | c.117 others(49): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02738.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0032 a0001c0002t0001g0046 a0001c0002t0001g0074 others(1): Show |
4 | 81 | 0.0494 | 30 | c.117 others(49): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 51 | 0.0196 | 30 | c.131 others(49): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 51 | 0.0196 | 30 | c.131 others(49): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18957.hp1 NA19007.hp1 NA19058.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0035 a0002c0002t0001g0027 a0002c0002t0001g0051 |
4 | 54 | 0.0741 | 30 | c.131 others(49): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02273.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0200 a0002c0002t0001g0004 |
2 | 52 | 0.0385 | 30 | c.131 others(49): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0096 |
2 | 52 | 0.0385 | 30 | c.131 others(49): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96486137 | T | TTTTCTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0122 | 1 | 96 | 0.0104 | 30 | c.-34 others(41): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3439 | chr12 | TogoVar | |||||||
CFAP57_chr1_43167330_43259358 | 43180223 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0018 | 1 | 245 | 0.0041 | 30 | c.158 others(47): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886726 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | 30 | c.*28 others(41): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 752 | chr11 | TogoVar | |||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01167.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0018a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0018g0001 a0002c0003t0001g0001 |
18 | 119 | 0.1513 | 30 | c.*28 others(41): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | |||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 NA18981.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 104 | 0.0288 | 30 | c.*28 others(41): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73362980 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0006 | 1 | 126 | 0.0079 | 30 | c.-42 others(41): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 4117 | chr10 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1923415 | C | CGGGCACG others(23): Show |
conservative_inframe_insertion | MODERATE | HG00609.hp1 | a0021 | a0021c0079 | a0021c0079t0001 | a0021c0079t0001g0273 | 1 | 276 | 0.0036 | 30 | c.447 others(39): Show |
p.Pro others(45): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 36/39 | 4578/5355 | 4473/4920 | 1491/1639 | chr1 | TogoVar | |||
CFAP77_chr9_132405211_132578319 | 132438541 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 217 | 0.0046 | 30 | c.195 others(49): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132482961 | A | ATAATTAT others(23): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 320 | 0.0031 | 30 | c.196 others(49): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP92_chr3_128904873_128999076 | 128932378 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0321 a0002c0002t0002g0323 a0002c0002t0002g0324 |
3 | 155 | 0.0194 | 30 | c.275 others(47): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01361.hp1 HG01515.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0203 a0001c0001t0001g0239 a0001c0001t0001g0349 others(3): Show |
6 | 22 | 0.2727 | 30 | c.153 others(47): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTTTATAT others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02258.hp2 NA18954.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0315 others(1): Show |
4 | 20 | 0.2000 | 30 | c.153 others(47): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843491 | T | TCCTCCTC others(23): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 377 | 0.0027 | 30 | c.153 others(47): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2466647 | T | TTGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01109.hp2 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0014others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0030 others(33): Show |
37 | 96 | 0.3854 | 30 | c.*37 others(41): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 3646 | chr4 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349682 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 203 | 0.0049 | 30 | c.651 others(49): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349686 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | NA18942.hp2 NA19000.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 a0001c0002t0001g0073 |
2 | 56 | 0.0357 | 30 | c.651 others(49): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349698 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 224 | 0.0045 | 30 | c.651 others(49): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349698 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 224 | 0.0045 | 30 | c.651 others(49): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349698 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 224 | 0.0045 | 30 | c.651 others(49): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFHR2_chr1_196938738_196964622 | 196956797 | T | TTAATATG others(23): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 368 | 0.0027 | 30 | c.431 others(47): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196772694 | G | GTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0005 | 1 | 145 | 0.0069 | 30 | c.-21 others(41): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2145 | chr1 | TogoVar | |||||||
CFHR5_chr1_196972556_197014678 | 196999682 | A | AGTATATA others(23): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 354 | 0.0028 | 30 | c.114 others(49): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 a0001c0001t0001g0240 |
2 | 137 | 0.0146 | 30 | c.151 others(47): 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(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 136 | 0.0074 | 30 | c.151 others(47): 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(23): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 136 | 0.0074 | 30 | c.151 others(47): 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(23): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 136 | 0.0074 | 30 | c.151 others(47): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109783811 | T | TAATATAT others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 |
a0001a0008 | a0001c0002a0008c0011 | a0001c0002t0001a0008c0011t0001 | a0001c0002t0001g0140 a0008c0011t0001g0108 |
2 | 299 | 0.0067 | 30 | c.58- others(47): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201173669 | G | GTTATTTT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0032a0001c0001t0069others(1): Show | a0001c0001t0010g0007 a0001c0001t0010g0048 a0001c0001t0010g0051 others(5): Show |
9 | 218 | 0.0413 | 30 | c.*97 others(41): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 9714 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57394101 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01934.hp1 HG03225.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0139 a0001c0001t0002g0034 a0001c0001t0002g0255 others(3): Show |
6 | 187 | 0.0321 | 30 | c.-16 others(49): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GGAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01975.hp2 NA18971.hp2 |
a0001a0002 | a0001c0005a0002c0008 | a0001c0005t0001a0002c0008t0003 | a0001c0005t0001g0222 a0002c0008t0003g0202 |
2 | 18 | 0.1111 | 30 | c.169 others(47): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | chr15 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116871 | T | TTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01123.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0216 a0001c0001t0001g0264 a0001c0001t0001g0265 others(1): Show |
4 | 160 | 0.0250 | 30 | c.-12 others(47): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116923 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01993.hp1 others(3): Show |
a0001 | a0001c0002a0001c0012 | a0001c0002t0002a0001c0012t0002 | a0001c0002t0002g0001 a0001c0002t0002g0017 a0001c0002t0002g0057 others(2): Show |
6 | 200 | 0.0300 | 30 | c.-12 others(47): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGRRF1_chr14_54504906_54544292 | 54513573 | T | TATGTTAT others(23): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0177 | 1 | 336 | 0.0030 | 30 | c.104 others(47): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 a0001c0001t0001g0265 |
2 | 45 | 0.0444 | 30 | c.104 others(45): 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(23): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0320 | 1 | 11 | 0.0909 | 30 | c.960 others(47): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132955173 | G | GGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA18944.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0164 |
2 | 20 | 0.1000 | 30 | c.369 others(49): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126862588 | A | ACCACCTC others(23): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01496.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 others(2): Show |
5 | 199 | 0.0251 | 30 | c.495 others(47): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147299000 | C | CTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138 | 1 | 26 | 0.0385 | 30 | c.*34 others(41): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 3239 | chr1 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98911146 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0136 | 1 | 119 | 0.0084 | 30 | c.54- others(45): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98911146 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0081 a0002c0002t0002g0087 |
2 | 120 | 0.0167 | 30 | c.54- others(45): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD3_chr17_7883789_7917755 | 7885307 | C | CCCGCCGC others(23): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0045 others(3): Show |
7 | 106 | 0.0660 | 30 | c.-36 others(41): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | |||||||
CHD7_chr8_60673740_60873028 | 60678764 | C | CGCGGCGG others(23): Show |
5_prime_UTR_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0065 | 1 | 49 | 0.0204 | 30 | c.-46 others(39): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |