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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP5-1_chr11_1579342_1590283 | 1583918 | G | GTGTGTGT others(6): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 429 | 0.0023 | 13 | c.*49 others(22): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 423 | chr11 | TogoVar | ||||||
KRTAP5-2_chr11_1592177_1603294 | 1592472 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 412 | 0.0024 | 13 | c.*52 others(24): Show |
KRTAP5-2 | ENSG00000205867.3 | transcript | ENST00000412090.2 | protein_coding | 4704 | chr11 | TogoVar | ||||||
KRTAP6-2_chr21_30593590_30603902 | 30597387 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 442 | 0.0023 | 13 | c.*12 others(24): Show |
KRTAP6-2 | ENSG00000186930.4 | transcript | ENST00000334897.4 | protein_coding | 1202 | chr21 | TogoVar | ||||||
KRTAP6-2_chr21_30593590_30603902 | 30597418 | T | TTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 442 | 0.0023 | 13 | c.*12 others(24): Show |
KRTAP6-2 | ENSG00000186930.4 | transcript | ENST00000334897.4 | protein_coding | 1171 | chr21 | TogoVar | ||||||
KRTAP6-3_chr21_30587440_30598075 | 30597387 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 434 | 0.0023 | 13 | c.*46 others(24): Show |
KRTAP6-3 | ENSG00000212938.3 | transcript | ENST00000391624.1 | protein_coding | 4313 | chr21 | TogoVar | ||||||
KRTAP6-3_chr21_30587440_30598075 | 30597418 | T | TTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0000 | 1 | 434 | 0.0023 | 13 | c.*46 others(24): Show |
KRTAP6-3 | ENSG00000212938.3 | transcript | ENST00000391624.1 | protein_coding | 4344 | chr21 | TogoVar | ||||||
KRTAP7-1_chr21_30824039_30834759 | 30826651 | T | TAGATAGA others(6): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 NA18990.hp1 NA19054.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 3 | 426 | 0.0070 | 13 | c.*27 others(24): Show |
KRTAP7-1 | ENSG00000274749.1 | transcript | ENST00000621162.1 | protein_coding | 2387 | chr21 | TogoVar | ||||||
KRTAP7-1_chr21_30824039_30834759 | 30826651 | T | TAGATAGA others(6): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG03942.hp1 NA18951.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 8 | 426 | 0.0188 | 13 | c.*27 others(24): Show |
KRTAP7-1 | ENSG00000274749.1 | transcript | ENST00000621162.1 | protein_coding | 2387 | chr21 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27526044 | T | TTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01169.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0192a0001c0001t0001g0196a0001c0001t0001g0233others(18): Show | 21 | 246 | 0.0854 | 13 | c.232 others(32): 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(6): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0008 | a0003c0008t0007 | a0003c0008t0007g0151 | 1 | 246 | 0.0041 | 13 | c.372 others(32): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KSR2_chr12_117448012_117973990 | 117454292 | G | GTATTCAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02809.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0017a0001c0001t0018a0001c0001t0026others(5): Show | a0001c0001t0017g0155a0001c0001t0018g0147a0001c0001t0026g0002others(5): Show | 8 | 196 | 0.0408 | 13 | c.*12 others(26): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 20/20 | 12906 | chr12 | TogoVar | |||||
KSR2_chr12_117448012_117973990 | 117686215 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0179 | 1 | 196 | 0.0051 | 13 | c.987 others(32): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117812842 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02258.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0025a0001c0001t0030a0001c0002t0012others(3): Show | a0001c0001t0025g0192a0001c0001t0030g0025a0001c0002t0012g0032others(3): Show | 6 | 196 | 0.0306 | 13 | c.472 others(32): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117928867 | G | GGCAGGTA others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01071.hp2 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0018others(55): Show | a0001c0001t0003g0016a0001c0001t0009g0184a0001c0001t0018g0147others(57): Show | 60 | 196 | 0.3061 | 13 | c.180 others(32): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117971094 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0009 | a0001c0009t0057 | a0001c0009t0057g0042 | 1 | 196 | 0.0051 | 13 | c.-28 others(24): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 2105 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117971104 | A | AAACAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0164 | 1 | 196 | 0.0051 | 13 | c.-28 others(24): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 2115 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117971105 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01123.hp1 HG02074.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0002t0114a0001c0004t0014others(3): Show | a0001c0001t0002g0127a0001c0002t0114g0161a0001c0004t0014g0070others(3): Show | 6 | 196 | 0.0306 | 13 | c.-28 others(24): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 2116 | chr12 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128865353 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0173 | 1 | 326 | 0.0031 | 13 | c.-7+ others(30): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128865355 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 326 | 0.0031 | 13 | c.-7+ others(30): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128865357 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 326 | 0.0031 | 13 | c.-7+ others(30): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128865357 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01993.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162a0001c0001t0002g0211a0001c0001t0002g0257 | 3 | 326 | 0.0092 | 13 | c.-7+ others(30): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 326 | 0.0031 | 13 | c.-7+ others(30): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 326 | 0.0031 | 13 | c.-7+ others(30): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
L1CAM_chrX_153856516_153891173 | 153859490 | A | AGGAAGGA others(6): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | 283 | 0.0071 | 13 | c.*31 others(24): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 2025 | chrX | TogoVar | ||||||
L1CAM_chrX_153856516_153891173 | 153860475 | C | CTTTCTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0072 | 1 | 283 | 0.0035 | 13 | c.*21 others(24): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 1040 | chrX | TogoVar | ||||||
L1CAM_chrX_153856516_153891173 | 153860530 | T | TCTTTCTT others(6): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 283 | 0.0035 | 13 | c.*21 others(24): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 985 | chrX | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62197397 | T | TTTATATA others(6): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0007 | a0002c0007t0009 | a0002c0007t0009g0359 | 1 | 414 | 0.0024 | 13 | c.-11 others(30): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
L1TD1_chr1_62189849_62217328 | 62205439 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03041.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0003a0003c0003t0016 | a0002c0002t0003g0204a0003c0003t0016g0208 | 2 | 414 | 0.0048 | 13 | c.-11 others(32): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
L1TD1_chr1_62189849_62217328 | 62205443 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0007 | a0002c0007t0009 | a0002c0007t0009g0366 | 1 | 414 | 0.0024 | 13 | c.-11 others(32): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
L3MBTL1_chr20_43502697_43546895 | 43510409 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0197 | 1 | 422 | 0.0024 | 13 | c.-29 others(30): Show |
L3MBTL1 | ENSG00000185513.18 | transcript | ENST00000418998.7 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
L3MBTL2_chr22_41200312_41236271 | 41211557 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 NA18959.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0084a0001c0002t0002g0085a0001c0002t0002g0106others(2): Show | 5 | 370 | 0.0135 | 13 | c.262 others(30): Show |
L3MBTL2 | ENSG00000100395.15 | transcript | ENST00000216237.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
L3MBTL3_chr6_130013581_130146438 | 130055479 | T | TCTCCCTC others(6): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0100 | 1 | 298 | 0.0034 | 13 | c.667 others(28): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
L3MBTL4_chr18_5949717_6419911 | 5982009 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0091 | 1 | 94 | 0.0106 | 13 | c.144 others(34): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6072865 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 | 1 | 94 | 0.0106 | 13 | c.144 others(32): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6072881 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 94 | 0.0106 | 13 | c.144 others(32): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6072881 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 94 | 0.0106 | 13 | c.144 others(32): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6209445 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 94 | 0.0106 | 13 | c.981 others(30): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 12/18 | chr18 | TogoVar | ||||||
LACC1_chr13_43874904_43898932 | 43898747 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp2 others(11): Show |
a0001 | a0001c0004 | a0001c0004t0007a0001c0004t0008a0001c0004t0019 | a0001c0004t0007g0020a0001c0004t0007g0036a0001c0004t0007g0079others(7): Show | 14 | 456 | 0.0307 | 13 | c.*73 others(24): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 4816 | chr13 | TogoVar | ||||||
LACTB2_chr8_70632266_70674185 | 70668748 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0053 | 1 | 352 | 0.0028 | 13 | c.122 others(28): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
LACTB2_chr8_70632266_70674185 | 70674074 | C | CCACAACA others(6): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 352 | 0.0028 | 13 | c.-49 others(24): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 4890 | chr8 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54346700 | T | TAAATAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(96): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(12): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0015others(39): Show | 99 | 462 | 0.2143 | 13 | c.*85 others(24): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 4683 | chr19 | TogoVar | ||||||
LAIR2_chr19_54497831_54515687 | 54514555 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 475 | 0.0021 | 13 | c.*39 others(24): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 3869 | chr19 | TogoVar | ||||||
LAMA1_chr18_6936742_7122797 | 7108640 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01891.hp2 HG02080.hp2 others(3): Show |
a0002a0003a0007others(3): Show | a0002c0003a0003c0014a0007c0143others(3): Show | a0002c0003t0002a0003c0014t0002a0007c0143t0001others(3): Show | a0002c0003t0002g0100a0003c0014t0002g0018a0007c0143t0001g0274others(3): Show | 6 | 278 | 0.0216 | 13 | c.61+ others(28): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 1/62 | chr18 | TogoVar | ||||||
LAMA1_chr18_6936742_7122797 | 7115814 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01074.hp2 others(18): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0027others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0027t0001others(14): Show | a0001c0001t0001g0141a0001c0001t0001g0146a0001c0002t0001g0136others(18): Show | 21 | 278 | 0.0755 | 13 | c.61+ others(28): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 1/62 | chr18 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128921697 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0009 | 1 | 88 | 0.0114 | 13 | c.112 others(32): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129055176 | T | TTTATTAT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01192.hp1 HG02257.hp1 |
a0002a0004a0008 | a0002c0056a0004c0048a0008c0016 | a0002c0056t0003a0004c0048t0003a0008c0016t0002 | a0002c0056t0003g0077a0004c0048t0003g0013a0008c0016t0002g0023 | 3 | 88 | 0.0341 | 13 | c.284 others(30): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 2/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129210003 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02970.hp1 NA19043.hp2 NA21309.hp1 |
a0004a0011 | a0004c0018a0004c0051a0011c0028 | a0004c0018t0001a0004c0051t0001a0011c0028t0003 | a0004c0018t0001g0032a0004c0051t0001g0008a0011c0028t0003g0011 | 3 | 88 | 0.0341 | 13 | c.178 others(34): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129309901 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0049 | a0001c0049t0001 | a0001c0049t0001g0042 | 1 | 88 | 0.0114 | 13 | c.317 others(32): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 22/64 | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129309902 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18946.hp1 |
a0001a0002 | a0001c0068a0002c0004 | a0001c0068t0003a0002c0004t0007 | a0001c0068t0003g0069a0002c0004t0007g0024 | 2 | 88 | 0.0227 | 13 | c.317 others(32): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 22/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA3_chr18_23684453_23960066 | 23916005 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0226a0001c0005t0001g0227a0001c0005t0001g0228others(3): Show | 6 | 280 | 0.0214 | 13 | c.777 others(30): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 59/74 | chr18 | TogoVar |