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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM29_chr4_174913358_174983180 | 174914170 | C | CACGAGAG others(3): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG06807.hp1 others(1): Show |
a0001a0002a0007 | a0001c0006a0002c0002a0007c0012 | a0001c0006t0002a0002c0002t0002a0007c0012t0014 | a0001c0006t0002g0033a0002c0002t0002g0029a0002c0002t0002g0030others(1): Show | 4 | 330 | 0.0121 | 10 | c.-48 others(21): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 4187 | chr4 | TogoVar | ||||||
ADAM29_chr4_174913358_174983180 | 174923525 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01070.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(5): Show | a0001c0001t0001g0172a0001c0001t0001g0176a0001c0001t0001g0177others(14): Show | 17 | 330 | 0.0515 | 10 | c.-45 others(29): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAM29_chr4_174913358_174983180 | 174923525 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 330 | 0.0030 | 10 | c.-45 others(29): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAM29_chr4_174913358_174983180 | 174928569 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03130.hp1 NA18522.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0015 | a0001c0001t0001g0149a0001c0001t0001g0152a0001c0001t0008g0099others(2): Show | 5 | 330 | 0.0152 | 10 | c.-45 others(29): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAM29_chr4_174913358_174983180 | 174979234 | T | TACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00735.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0156a0001c0001t0001g0188a0001c0001t0002g0001others(19): Show | 25 | 330 | 0.0758 | 10 | c.*12 others(21): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 1055 | chr4 | TogoVar | ||||||
ADAM29_chr4_174913358_174983180 | 174979268 | C | CACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG03831.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0018a0002c0002t0001g0019a0002c0002t0001g0150others(4): Show | 8 | 330 | 0.0242 | 10 | c.*12 others(21): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 1089 | chr4 | TogoVar | ||||||
ADAM29_chr4_174913358_174983180 | 174979268 | C | CACACACA others(3): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 NA19080.hp1 NA19082.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0004 | a0002c0002t0001g0173a0002c0002t0001g0203a0002c0002t0003g0063others(1): Show | 4 | 330 | 0.0121 | 10 | c.*12 others(21): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 1089 | chr4 | TogoVar | ||||||
ADAM2_chr8_39738735_39843227 | 39760882 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 329 | 0.0030 | 10 | c.161 others(27): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 15/20 | chr8 | TogoVar | ||||||
ADAM2_chr8_39738735_39843227 | 39767896 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03453.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0225others(1): Show | 4 | 329 | 0.0122 | 10 | c.121 others(27): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 12/20 | chr8 | TogoVar | ||||||
ADAM2_chr8_39738735_39843227 | 39767914 | A | ACACACAC others(3): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 329 | 0.0030 | 10 | c.121 others(27): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 12/20 | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39154033 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01978.hp2 HG02486.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0206a0001c0001t0001g0225others(10): Show | 13 | 257 | 0.0506 | 10 | c.525 others(27): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM32_chr8_39102734_39289917 | 39284378 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0230 | 1 | 257 | 0.0039 | 10 | c.235 others(27): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM7_chr8_24436026_24514565 | 24438273 | T | TTATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG02080.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0001 | a0001c0001t0002g0191a0001c0001t0002g0202a0001c0001t0002g0255others(1): Show | 4 | 360 | 0.0111 | 10 | c.-28 others(21): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2752 | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24438302 | T | TAGAGAGA others(3): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 HG02809.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0005c0006t0001 | a0001c0001t0002g0068a0005c0006t0001g0038 | 2 | 360 | 0.0056 | 10 | c.-28 others(21): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2723 | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24438304 | T | TAGAGAGA others(3): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 NA18979.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0003 | a0001c0001t0002g0280a0001c0004t0003g0061 | 2 | 360 | 0.0056 | 10 | c.-28 others(21): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2721 | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24438304 | T | TATAGAGA others(3): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01891.hp2 |
a0001a0013 | a0001c0001a0013c0026 | a0001c0001t0002a0013c0026t0007 | a0001c0001t0002g0279a0013c0026t0007g0147 | 2 | 360 | 0.0056 | 10 | c.-28 others(21): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2721 | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24438304 | T | TATATAGA others(3): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186a0001c0001t0002g0195 | 2 | 360 | 0.0056 | 10 | c.-28 others(21): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2721 | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24438304 | T | TATATATA others(3): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 | 1 | 360 | 0.0028 | 10 | c.-28 others(21): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2721 | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24438304 | T | TATATATA others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG02738.hp2 HG03927.hp2 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0034 | a0001c0001t0002a0002c0003t0001a0003c0034t0008 | a0001c0001t0002g0260a0002c0003t0001g0113a0003c0034t0008g0125 | 3 | 360 | 0.0083 | 10 | c.-28 others(21): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2721 | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24477569 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0033 | a0003c0033t0004 | a0003c0033t0004g0205 | 1 | 360 | 0.0028 | 10 | c.705 others(27): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM7_chr8_24436026_24514565 | 24506753 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0032 | a0003c0032t0001 | a0003c0032t0001g0216 | 1 | 360 | 0.0028 | 10 | c.220 others(27): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39009964 | A | AAACAAAC others(3): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 332 | 0.0030 | 10 | c.196 others(27): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 2/21 | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39045069 | C | CCTATGTA others(3): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01071.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0001a0002c0002t0002a0002c0010t0002 | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0036others(30): Show | 33 | 332 | 0.0994 | 10 | c.130 others(29): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39045070 | A | ATATGTAT others(3): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 332 | 0.0030 | 10 | c.130 others(29): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045091 | C | CCTATGTA others(3): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02451.hp1 others(8): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0002a0002c0010t0002 | a0002c0002t0002g0130a0002c0002t0002g0187a0002c0002t0002g0188others(8): Show | 11 | 332 | 0.0331 | 10 | c.130 others(29): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39045113 | C | CCTATGTA others(3): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03195.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0001a0002c0002t0002a0002c0010t0002 | a0001c0001t0001g0239a0002c0002t0002g0189a0002c0010t0002g0198 | 3 | 332 | 0.0090 | 10 | c.130 others(29): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39045178 | A | ACATATAG others(3): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0332 | 1 | 332 | 0.0030 | 10 | c.130 others(29): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39045191 | C | CATATATG others(3): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 332 | 0.0030 | 10 | c.130 others(29): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045568 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02451.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0187a0002c0002t0002g0188a0002c0002t0002g0189others(7): Show | 10 | 332 | 0.0301 | 10 | c.130 others(29): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0012 | a0012c0021 | a0012c0021t0005 | a0012c0021t0005g0120 | 1 | 384 | 0.0026 | 10 | c.320 others(27): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8610422 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00673.hp2 others(46): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0304others(43): Show | 49 | 384 | 0.1276 | 10 | c.-21 others(27): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1/25 | chr19 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33519260 | T | TAACTGAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(77): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0011others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0013a0001c0001t0001g0021a0001c0001t0001g0059others(77): Show | 80 | 224 | 0.3571 | 10 | c.*79 others(21): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 4274 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33521396 | A | AATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 HG02080.hp1 HG02896.hp1 others(4): Show |
a0001a0002a0017 | a0001c0001a0001c0027a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0027t0004others(3): Show | a0001c0001t0001g0099a0001c0001t0001g0196a0001c0001t0009g0199others(4): Show | 7 | 224 | 0.0313 | 10 | c.*57 others(21): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2138 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33521435 | A | ATATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0081 | 1 | 224 | 0.0045 | 10 | c.*57 others(21): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2099 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33521446 | T | TATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 HG03486.hp2 |
a0003a0013 | a0003c0005a0013c0061 | a0003c0005t0006a0013c0061t0013 | a0003c0005t0006g0184a0013c0061t0013g0223 | 2 | 224 | 0.0089 | 10 | c.*57 others(21): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2088 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33548702 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG02293.hp2 others(9): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0006a0005c0013others(2): Show | a0001c0001t0001a0005c0006t0001a0005c0006t0011others(5): Show | a0001c0001t0001g0034a0001c0001t0001g0068a0001c0001t0001g0073others(9): Show | 12 | 224 | 0.0536 | 10 | c.430 others(27): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 21/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33601106 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02717.hp1 others(3): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0016a0001c0035others(3): Show | a0001c0001t0001a0001c0016t0001a0001c0035t0001others(3): Show | a0001c0001t0001g0167a0001c0016t0001g0208a0001c0035t0001g0036others(3): Show | 6 | 224 | 0.0268 | 10 | c.252 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 16/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33605475 | G | GTATATTT others(3): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0004 | a0004c0007 | a0004c0007t0007 | a0004c0007t0007g0144 | 1 | 224 | 0.0045 | 10 | c.252 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 16/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33654872 | T | TGTTGTGT others(3): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 | 1 | 224 | 0.0045 | 10 | c.119 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33654874 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01884.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0039others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(6): Show | a0001c0001t0001g0021a0001c0001t0001g0101a0001c0001t0001g0129others(15): Show | 18 | 224 | 0.0804 | 10 | c.119 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33655628 | T | TATTTAAT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00621.hp2 others(50): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0035others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0001g0067others(50): Show | 53 | 224 | 0.2366 | 10 | c.119 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33676683 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01243.hp2 others(34): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0011others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0024a0001c0001t0001g0029a0001c0001t0001g0067others(34): Show | 37 | 224 | 0.1652 | 10 | c.915 others(27): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 5/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33676707 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03453.hp2 NA21309.hp1 |
a0001a0021a0028 | a0001c0025a0021c0054a0028c0030 | a0001c0025t0012a0021c0054t0007a0028c0030t0012 | a0001c0025t0012g0217a0021c0054t0007g0174a0028c0030t0012g0200 | 3 | 224 | 0.0134 | 10 | c.915 others(27): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 5/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33686922 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0028 | 1 | 224 | 0.0045 | 10 | c.635 others(27): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33720284 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG01074.hp1 others(25): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0027a0001c0001t0001g0101a0001c0001t0001g0114others(25): Show | 28 | 224 | 0.1250 | 10 | c.634 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33730287 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0189 | 1 | 224 | 0.0045 | 10 | c.634 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33730289 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01123.hp1 others(35): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0008others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(21): Show | a0001c0001t0001g0034a0001c0001t0001g0101a0001c0001t0001g0155others(35): Show | 38 | 224 | 0.1696 | 10 | c.634 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33835907 | A | ATCTCTCT others(3): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0104a0001c0001t0005g0092 | 2 | 224 | 0.0089 | 10 | c.489 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33886989 | G | GGGATCAC others(3): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0014 | a0014c0060 | a0014c0060t0005 | a0014c0060t0005g0220 | 1 | 224 | 0.0045 | 10 | c.127 others(27): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133458555 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02622.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0029 | a0001c0001t0001a0001c0005t0001a0001c0029t0001 | a0001c0001t0001g0122a0001c0001t0001g0215a0001c0001t0001g0310others(2): Show | 5 | 364 | 0.0137 | 10 | c.391 others(27): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |