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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP7-1_chr21_30824039_30834759 | 30825290 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 426 | 0.0024 | 22 | c.*41 others(33): Show |
KRTAP7-1 | ENSG00000274749.1 | transcript | ENST00000621162.1 | protein_coding | 3748 | chr21 | TogoVar | |||||||
KSR1_chr17_27451448_27631435 | 27526094 | T | TTCTTTCT others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0009 | 1 | 246 | 0.0041 | 22 | c.232 others(41): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27526094 | T | TTCTTTCT others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01099.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0002t0026a0001c0005t0002others(2): Show | a0001c0001t0003g0010 a0001c0002t0026g0154 a0001c0005t0002g0023 others(2): Show |
6 | 246 | 0.0244 | 22 | c.232 others(41): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27563981 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02738.hp2 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0003c0008t0011 | a0001c0001t0003g0094 a0003c0008t0011g0213 |
2 | 246 | 0.0081 | 22 | c.372 others(41): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117452573 | A | ATTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0063a0001c0003t0090 | a0001c0002t0063g0048 a0001c0003t0090g0096 |
2 | 196 | 0.0102 | 22 | c.*14 others(35): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 438 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117455030 | C | CAGAGAGA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0009 | a0001c0009t0136 | a0001c0009t0136g0097 | 1 | 196 | 0.0051 | 22 | c.*12 others(35): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 20/20 | 12168 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117455034 | C | CAGAGAGA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0097 | a0001c0001t0027g0001 a0001c0001t0097g0132 |
2 | 196 | 0.0102 | 22 | c.*12 others(35): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 20/20 | 12164 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117492419 | G | GGTGCCTG others(15): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02109.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0019a0001c0001t0024a0001c0001t0070others(17): Show | a0001c0001t0019g0117 a0001c0001t0024g0178 a0001c0001t0070g0051 others(19): Show |
22 | 196 | 0.1122 | 22 | c.222 others(41): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 14/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117611445 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0047a0001c0001t0083others(8): Show | a0001c0001t0006g0122 a0001c0001t0047g0007 a0001c0001t0083g0075 others(8): Show |
11 | 196 | 0.0561 | 22 | c.117 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117611446 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0018 | 1 | 196 | 0.0051 | 22 | c.117 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117619663 | T | TAACATTG others(15): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18906.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0030a0001c0003t0015a0001c0003t0080 | a0001c0001t0030g0025 a0001c0003t0015g0059 a0001c0003t0080g0068 |
3 | 196 | 0.0153 | 22 | c.117 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117656989 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0134a0001c0003t0004 | a0001c0001t0134g0121 a0001c0003t0004g0146 |
2 | 196 | 0.0102 | 22 | c.117 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KTN1_chr14_55575207_55689579 | 55631341 | G | GATTGATA others(15): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 314 | 0.0032 | 22 | c.122 others(41): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 326 | 0.0031 | 22 | c.-7+ others(39): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYNU_chr2_142872664_143060833 | 142977372 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp2 HG03579.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0077others(3): Show | a0001c0001t0002g0102 a0001c0001t0005g0273 a0001c0001t0077g0164 others(3): Show |
6 | 332 | 0.0181 | 22 | c.730 others(39): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 143013298 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0156 a0001c0001t0021g0157 a0001c0001t0021g0158 |
3 | 332 | 0.0090 | 22 | c.903 others(41): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 143013298 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02083.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0006g0039 a0001c0001t0008g0182 a0001c0001t0011g0050 others(3): Show |
6 | 332 | 0.0181 | 22 | c.903 others(41): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 143032711 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00735.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0013 a0001c0001t0002g0069 a0001c0001t0002g0102 others(23): Show |
26 | 332 | 0.0783 | 22 | c.956 others(37): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205441 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0195 | 1 | 414 | 0.0024 | 22 | c.-11 others(41): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205443 | A | ATATATTT others(15): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0183 | 1 | 414 | 0.0024 | 22 | c.-11 others(41): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205443 | A | ATATTTTT others(15): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02630.hp1 NA18947.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0108 a0002c0002t0003g0186 a0002c0002t0003g0200 |
3 | 414 | 0.0073 | 22 | c.-11 others(41): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205443 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18993.hp2 NA19077.hp1 |
a0002a0003 | a0002c0002a0002c0025a0003c0003 | a0002c0002t0003a0002c0025t0003a0003c0003t0004 | a0002c0002t0003g0031 a0002c0025t0003g0199 a0003c0003t0004g0073 |
3 | 414 | 0.0073 | 22 | c.-11 others(41): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L2HGDH_chr14_50237434_50317229 | 50311351 | T | TGATTGAC others(15): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0356 | 1 | 360 | 0.0028 | 22 | c.140 others(37): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
L3MBTL3_chr6_130013581_130146438 | 130048941 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02965.hp1 HG03579.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0012 | a0001c0003t0001g0082 a0001c0003t0001g0085 a0001c0003t0001g0088 others(3): Show |
6 | 298 | 0.0201 | 22 | c.103 others(37): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
L3MBTL3_chr6_130013581_130146438 | 130066286 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0102 | 1 | 298 | 0.0034 | 22 | c.865 others(35): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6099585 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 | 1 | 94 | 0.0106 | 22 | c.120 others(41): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6118208 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0014 a0001c0001t0004g0049 |
2 | 94 | 0.0213 | 22 | c.119 others(43): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6247466 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03453.hp1 NA18906.hp1 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0002a0002c0006t0001 | a0001c0003t0002g0056 a0001c0003t0002g0058 a0002c0006t0001g0051 |
3 | 94 | 0.0319 | 22 | c.220 others(39): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 5/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6295346 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 94 | 0.0106 | 22 | c.127 others(39): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
LACC1_chr13_43874904_43898932 | 43882564 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 456 | 0.0022 | 22 | c.741 others(37): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LACTB2_chr8_70632266_70674185 | 70668748 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0049 | 1 | 352 | 0.0028 | 22 | c.122 others(37): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129200408 | A | ATATACAT others(15): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03139.hp1 |
a0023a0030 | a0023c0071a0030c0032 | a0023c0071t0005a0030c0032t0005 | a0023c0071t0005g0050 a0030c0032t0005g0048 |
2 | 88 | 0.0227 | 22 | c.178 others(41): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129205478 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0030 | a0030c0032 | a0030c0032t0005 | a0030c0032t0005g0048 | 1 | 88 | 0.0114 | 22 | c.178 others(43): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23687746 | T | TTGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG03704.hp1 NA18906.hp1 others(1): Show |
a0001a0035 | a0001c0009a0001c0010a0001c0011others(1): Show | a0001c0009t0001a0001c0010t0001a0001c0011t0001others(1): Show | a0001c0009t0001g0001 a0001c0010t0001g0164 a0001c0011t0001g0115 others(1): Show |
4 | 280 | 0.0143 | 22 | c.-19 others(33): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1706 | chr18 | TogoVar | |||||||
LAMA3_chr18_23684453_23960066 | 23699024 | T | TAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0026 | a0026c0026 | a0026c0026t0001 | a0026c0026t0001g0152 | 1 | 280 | 0.0036 | 22 | c.294 others(39): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23837570 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(20): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(7): Show | a0001c0001t0002g0072 a0001c0001t0002g0169 a0001c0001t0002g0175 others(20): Show |
23 | 280 | 0.0821 | 22 | c.309 others(39): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 25/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23916005 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18522.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0229 a0001c0005t0001g0232 |
2 | 280 | 0.0071 | 22 | c.777 others(39): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 59/74 | chr18 | TogoVar | |||||||
LAMA3_chr18_23868020_23960066 | 23916005 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 a0001c0001t0001g0259 |
2 | 334 | 0.0060 | 22 | c.295 others(39): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000269217.11 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
LAMA4_chr6_112102931_112259567 | 112241140 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0236 | 1 | 314 | 0.0032 | 22 | c.195 others(41): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 2/38 | chr6 | TogoVar | |||||||
LAMA4_chr6_112102931_112259567 | 112254358 | T | TCCCCTTC others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02886.hp2 HG02897.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0011a0001c0023others(7): Show | a0001c0002t0001a0001c0011t0003a0001c0023t0003others(7): Show | a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0011t0003g0313 others(11): Show |
14 | 314 | 0.0446 | 22 | c.-14 others(37): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 1/38 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62309584 | T | TAGGAGGG others(15): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0052 | a0052c0094 | a0052c0094t0001 | a0052c0094t0001g0098 | 1 | 186 | 0.0054 | 22 | c.109 others(41): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 79/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62309639 | T | TGGGGGGG others(15): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02135.hp2 HG03471.hp1 others(3): Show |
a0001a0004a0011others(2): Show | a0001c0001a0001c0005a0004c0004others(3): Show | a0001c0001t0001a0001c0005t0001a0004c0004t0001others(3): Show | a0001c0001t0001g0142 a0001c0005t0001g0141 a0004c0004t0001g0165 others(3): Show |
6 | 186 | 0.0323 | 22 | c.109 others(39): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 79/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62309639 | T | TGGGGGGG others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01081.hp2 others(11): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0015a0003c0002others(11): Show | a0001c0001t0001a0001c0015t0001a0003c0002t0001others(11): Show | a0001c0001t0001g0138 a0001c0015t0001g0168 a0003c0002t0001g0037 others(11): Show |
14 | 186 | 0.0753 | 22 | c.109 others(39): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 79/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62309639 | T | TGGGGGGT others(15): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01071.hp2 others(6): Show |
a0007a0008a0009others(5): Show | a0007c0006a0008c0014a0008c0043others(6): Show | a0007c0006t0003a0008c0014t0001a0008c0043t0001others(6): Show | a0007c0006t0003g0185 a0008c0014t0001g0170 a0008c0043t0001g0173 others(6): Show |
9 | 186 | 0.0484 | 22 | c.109 others(39): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 79/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62312019 | C | CCCTGCTG others(15): Show |
frameshift_variant | HIGH | HG02572.hp2 | a0067 | a0067c0133 | a0067c0133t0001 | a0067c0133t0001g0057 | 1 | 186 | 0.0054 | 22 | c.951 others(31): Show |
p.Gly others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 70/80 | 9602/11426 | 9535/11088 | 3179/3695 | chr20 | TogoVar | |||
LAMA5_chr20_62304065_62372312 | 62331191 | C | CGGTACGA others(15): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0092 | a0092c0098 | a0092c0098t0001 | a0092c0098t0001g0124 | 1 | 186 | 0.0054 | 22 | c.355 others(37): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 28/79 | chr20 | TogoVar | |||||||
LAMB1_chr7_107918799_108008161 | 107976926 | T | TCTCCTTC others(15): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02976.hp1 NA18522.hp2 others(1): Show |
a0002 | a0002c0003a0002c0013 | a0002c0003t0001a0002c0003t0002a0002c0013t0001 | a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0002g0288 others(1): Show |
4 | 364 | 0.0110 | 22 | c.100 others(41): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 9/33 | chr7 | TogoVar | |||||||
LAMB1_chr7_107918799_108008161 | 107977013 | C | CCCTCCTT others(15): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0327 | 1 | 364 | 0.0028 | 22 | c.100 others(41): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 9/33 | chr7 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183077776 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18522.hp2 NA19240.hp1 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0102 a0001c0005t0004g0103 a0001c0005t0004g0105 |
3 | 308 | 0.0097 | 22 | c.419 others(41): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183149952 | C | CACACCAC others(15): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01167.hp2 others(22): Show |
a0001a0016 | a0001c0002a0001c0003a0016c0041 | a0001c0002t0002a0001c0003t0003a0001c0003t0008others(4): Show | a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0070 others(20): Show |
25 | 308 | 0.0812 | 22 | c.*71 others(33): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4361 | chr1 | TogoVar |