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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFDP1_chr16_75288710_75438503 | 75393737 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 314 | 0.0032 | 24 | c.650 others(41): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFD_chr19_854664_868641 | 864042 | C | CCACACAC others(17): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 HG03486.hp1 HG03688.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0005others(3): Show | 6 | 287 | 0.0209 | 24 | c.*80 others(33): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 402 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(17): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 NA19043.hp2 NA19066.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070a0001c0001t0002g0003 | 4 | 287 | 0.0139 | 24 | c.*82 others(33): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(17): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 287 | 0.0035 | 24 | c.*82 others(33): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196824748 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0038 | 1 | 275 | 0.0036 | 24 | c.59- others(37): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR3_chr1_196769840_196800407 | 196772694 | G | GTATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 HG01884.hp1 HG03831.hp1 others(3): Show |
a0002a0005 | a0002c0001a0005c0007 | a0002c0001t0002a0005c0007t0007 | a0002c0001t0002g0003a0002c0001t0002g0048a0002c0001t0002g0060others(3): Show | 6 | 261 | 0.0230 | 24 | c.-21 others(35): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2145 | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196797800 | C | CTCTAGAA others(17): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(117): Show |
a0001a0002a0006 | a0001c0002a0002c0001a0006c0008 | a0001c0002t0001a0002c0001t0002a0002c0001t0003others(6): Show | a0001c0002t0001g0112a0002c0001t0002g0003a0002c0001t0002g0004others(61): Show | 120 | 261 | 0.4598 | 24 | c.*42 others(35): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2394 | chr1 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196915367 | G | GGGGGGGG others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 350 | 0.0029 | 24 | c.154 others(41): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 9/9 | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196658407 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18947.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0255a0001c0001t0001g0259 | 3 | 308 | 0.0097 | 24 | c.58+ others(39): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATAGA others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0160 | 1 | 308 | 0.0033 | 24 | c.151 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 308 | 0.0033 | 24 | c.151 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 308 | 0.0033 | 24 | c.151 others(41): 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(17): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20300.hp2 |
a0001a0006 | a0001c0010a0006c0017 | a0001c0010t0001a0006c0017t0001 | a0001c0010t0001g0277a0006c0017t0001g0013 | 2 | 308 | 0.0065 | 24 | c.151 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0304 | 1 | 308 | 0.0033 | 24 | c.151 others(41): 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(17): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 308 | 0.0033 | 24 | c.151 others(41): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109756888 | G | GGAAAGAA others(17): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0109 | 1 | 354 | 0.0028 | 24 | c.904 others(39): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109783811 | T | TAATATAT others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024a0001c0002t0002g0026 | 2 | 354 | 0.0057 | 24 | c.58- others(41): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109783812 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 354 | 0.0028 | 24 | c.58- others(41): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01175.hp2 HG02129.hp1 others(5): Show |
a0002 | a0002c0001a0002c0005 | a0002c0001t0001a0002c0005t0018 | a0002c0001t0001g0026a0002c0001t0001g0028a0002c0001t0001g0148others(5): Show | 8 | 410 | 0.0195 | 24 | c.-13 others(35): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57410928 | A | AAATATGT others(17): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0266 | 1 | 294 | 0.0034 | 24 | c.-15 others(43): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGN_chr1_151506387_151543692 | 151511435 | T | TGCCCGAG others(17): Show |
5_prime_UTR_variant | MODIFIER | NA18942.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0001a0001c0001t0020g0060 | 2 | 382 | 0.0052 | 24 | c.-70 others(31): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 1/21 | 7036 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
CGREF1_chr2_27095594_27124128 | 27116871 | T | TTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01261.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0235a0001c0001t0001g0301a0001c0001t0006g0236 | 3 | 352 | 0.0085 | 24 | c.-12 others(41): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116872 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0088 | 1 | 352 | 0.0028 | 24 | c.-12 others(41): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116923 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01981.hp1 others(8): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0001a0001c0002t0002g0072a0001c0002t0002g0073others(5): Show | 11 | 352 | 0.0313 | 24 | c.-12 others(41): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54535359 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0027a0001c0001t0008g0027 | 2 | 338 | 0.0059 | 24 | c.571 others(41): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4401608 | A | AAAGGAAG others(17): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0226 | 1 | 384 | 0.0026 | 24 | c.-11 others(35): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 1031 | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02895.hp1 HG02897.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0131a0003c0004t0002g0335a0003c0004t0002g0336 | 3 | 384 | 0.0078 | 24 | c.104 others(39): 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(17): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0331 | 1 | 384 | 0.0026 | 24 | c.960 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253a0001c0001t0001g0255 | 2 | 384 | 0.0052 | 24 | c.137 others(43): 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(17): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0307 | 1 | 346 | 0.0029 | 24 | c.260 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0296 | 1 | 346 | 0.0029 | 24 | c.260 others(41): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36401352 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0042 | 1 | 346 | 0.0029 | 24 | c.664 others(41): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36401352 | A | AATATATT others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(1): Show | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0099others(8): Show | 11 | 346 | 0.0318 | 24 | c.664 others(41): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36401597 | A | ATTTTATA others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00733.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0172others(14): Show | 18 | 346 | 0.0520 | 24 | c.664 others(41): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHCHD3_chr7_132779870_133087090 | 132955173 | G | GGGGTGTG others(17): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0194 | 2 | 310 | 0.0065 | 24 | c.369 others(43): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132955173 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG01975.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0030others(11): Show | 14 | 310 | 0.0452 | 24 | c.369 others(43): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132963694 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 310 | 0.0032 | 24 | c.369 others(43): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132990951 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 310 | 0.0032 | 24 | c.252 others(43): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD4_chr3_14107077_14129870 | 14109617 | A | ACCATAAC others(17): Show |
downstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 416 | 0.0024 | 24 | c.*32 others(35): Show |
CHCHD4 | ENSG00000163528.13 | transcript | ENST00000396914.4 | protein_coding | 2459 | chr3 | TogoVar | ||||||
CHCHD4_chr3_14107077_14129870 | 14115969 | A | ACTCCTGC others(17): Show |
intron_variant | MODIFIER | HG02135.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 416 | 0.0048 | 24 | c.121 others(39): Show |
CHCHD4 | ENSG00000163528.13 | transcript | ENST00000396914.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126863509 | A | ACCTCCTC others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG02723.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0007 | a0001c0001t0001a0001c0003t0001a0004c0007t0004 | a0001c0001t0001g0110a0001c0001t0001g0128a0001c0003t0001g0107others(4): Show | 7 | 216 | 0.0324 | 24 | c.495 others(43): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126864931 | A | ACCTCCTC others(17): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02109.hp2 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0007others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0007t0004others(1): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0106others(22): Show | 25 | 216 | 0.1157 | 24 | c.495 others(43): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126880620 | A | AGGGAGAC others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198a0001c0001t0001g0199a0001c0001t0001g0203 | 3 | 216 | 0.0139 | 24 | c.495 others(43): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHD1_chr5_98848985_98934007 | 98911146 | A | AAAATATA others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 NA21309.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0006a0002c0002t0002 | a0001c0003t0006g0061a0002c0002t0002g0081 | 2 | 334 | 0.0060 | 24 | c.54- others(39): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7884459 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 366 | 0.0027 | 24 | c.-45 others(35): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 4329 | chr17 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7885030 | C | CGCCGCCG others(17): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 366 | 0.0027 | 24 | c.-39 others(35): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3758 | chr17 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7885307 | C | CCCGCCGC others(17): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01106.hp2 HG01515.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0019a0001c0001t0001g0042a0001c0001t0001g0154others(1): Show | 4 | 366 | 0.0109 | 24 | c.-36 others(35): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6132880 | T | TTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0041 | a0001c0041t0014 | a0001c0041t0014g0250 | 1 | 320 | 0.0031 | 24 | c.314 others(43): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 20/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6140967 | A | AAATAATA others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG03195.hp2 |
a0001 | a0001c0013a0001c0026a0001c0029 | a0001c0013t0005a0001c0026t0005a0001c0029t0076 | a0001c0013t0005g0156a0001c0026t0005g0063a0001c0029t0076g0309 | 3 | 320 | 0.0094 | 24 | c.243 others(43): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 15/41 | chr1 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41419554 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 324 | 0.0031 | 24 | c.612 others(41): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar |