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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3703): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03942.hp2 |
a0002 | a0002c0003a0002c0009 | a0002c0003t0006a0002c0009t0002 | a0002c0003t0006g0143a0002c0009t0002g0139 | 2 | 372 | 0.0054 | 3710 | c.-13 others(3727): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248408307 | C | CGCATTTG others(3703): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 266 | 0.0038 | 3710 | c.*12 others(3721): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 288 | chr1 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811201 | C | CCCTTCCC others(3703): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 178 | 0.0056 | 3710 | c.773 others(3725): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3704): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18969.hp1 NA18969.hp2 others(4): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0002a0005c0006others(1): Show | a0001c0001t0001a0003c0002t0005a0005c0006t0003others(1): Show | a0001c0001t0001g0108a0001c0001t0001g0193a0001c0001t0001g0204others(4): Show | 7 | 272 | 0.0257 | 3711 | c.313 others(3730): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3704): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0142 | 1 | 372 | 0.0027 | 3711 | c.-13 others(3728): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3704): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0140 | 1 | 372 | 0.0027 | 3711 | c.-13 others(3728): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3705): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 272 | 0.0037 | 3712 | c.313 others(3731): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3705): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02273.hp2 |
a0001a0004 | a0001c0009a0004c0004 | a0001c0009t0004a0004c0004t0002 | a0001c0009t0004g0164a0004c0004t0002g0110 | 2 | 272 | 0.0074 | 3712 | c.313 others(3731): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3705): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp2 others(18): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0003c0002others(7): Show | a0001c0001t0001a0001c0001t0005a0002c0003t0002others(10): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0089others(18): Show | 21 | 272 | 0.0772 | 3712 | c.313 others(3731): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3705): Show |
intron_variant | MODIFIER | NA18950.hp1 NA19057.hp2 |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0003 | a0001c0001t0001g0258a0006c0005t0003g0170 | 2 | 272 | 0.0074 | 3712 | c.313 others(3731): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106482250 | C | CACCTCTT others(3705): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 272 | 0.0037 | 3712 | c.313 others(3731): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3705): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0141 | 1 | 372 | 0.0027 | 3712 | c.-13 others(3729): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3705): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0250 | 1 | 372 | 0.0027 | 3712 | c.-13 others(3729): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3705): Show |
intron_variant | MODIFIER | HG02300.hp2 HG03491.hp1 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0003 | a0002c0003t0001g0235a0002c0004t0003g0241 | 2 | 372 | 0.0054 | 3712 | c.-13 others(3729): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3706): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 334 | 0.0030 | 3713 | c.147 others(3730): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3706): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0263 | 1 | 372 | 0.0027 | 3713 | c.-13 others(3730): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3706): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0252 | 1 | 372 | 0.0027 | 3713 | c.-13 others(3730): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3706): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0253 | 1 | 372 | 0.0027 | 3713 | c.-13 others(3730): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3706): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(26): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0004t0003 | a0002c0003t0001g0021a0002c0003t0001g0236a0002c0003t0001g0237others(20): Show | 29 | 372 | 0.0780 | 3713 | c.-13 others(3730): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3706): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0261 | 1 | 372 | 0.0027 | 3713 | c.-13 others(3730): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3706): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0243 | 1 | 372 | 0.0027 | 3713 | c.-13 others(3730): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3706): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0020a0002c0004t0003g0042 | 5 | 372 | 0.0134 | 3713 | c.-13 others(3730): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3707): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0251 | 1 | 372 | 0.0027 | 3714 | c.-13 others(3731): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3707): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0257 | 1 | 372 | 0.0027 | 3714 | c.-13 others(3731): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74727205 | A | ACCGTATT others(3707): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0242 | 1 | 372 | 0.0027 | 3714 | c.-13 others(3731): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3707): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0013 | 1 | 212 | 0.0047 | 3714 | c.111 others(3731): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3707): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0004g0035others(12): Show | 15 | 212 | 0.0708 | 3714 | c.111 others(3731): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3707): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01358.hp2 HG01981.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0004a0001c0001t0005a0001c0005t0005others(3): Show | a0001c0001t0004g0064a0001c0001t0004g0065a0001c0001t0004g0159others(7): Show | 10 | 212 | 0.0472 | 3714 | c.111 others(3731): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3707): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0201 | 1 | 212 | 0.0047 | 3714 | c.111 others(3731): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3709): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0038 | 1 | 212 | 0.0047 | 3716 | c.111 others(3733): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654744 | A | ATCCTCAC others(3710): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0071 | 1 | 394 | 0.0025 | 3717 | c.-52 others(3734): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ACAGGGTG others(3710): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0036 | 1 | 376 | 0.0027 | 3717 | c.101 others(3734): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3710): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0021 | 1 | 212 | 0.0047 | 3717 | c.111 others(3734): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3711): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 80 | 0.0125 | 3718 | c.125 others(3735): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3711): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0168 | 1 | 212 | 0.0047 | 3718 | c.111 others(3735): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3711): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03195.hp2 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0003c0008t0003 | a0001c0001t0003g0171a0003c0008t0003g0183 | 2 | 212 | 0.0094 | 3718 | c.111 others(3735): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3711): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0008 | 1 | 250 | 0.0040 | 3718 | c.-21 others(3735): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3712): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 40 | 0.0250 | 3719 | c.*14 others(3730): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3712): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 212 | 0.0047 | 3719 | c.111 others(3736): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716082 | G | GTGGTGGG others(3713): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0048 | 1 | 170 | 0.0059 | 3720 | c.86- others(3733): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACCCTTAC others(3713): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 290 | 0.0035 | 3720 | c.129 others(3739): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 212 | 0.0047 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02970.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0039a0001c0001t0002g0057a0001c0001t0003g0050others(3): Show | 6 | 212 | 0.0283 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02055.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0180 | 3 | 212 | 0.0142 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0013a0001c0017others(1): Show | a0001c0001t0016a0001c0013t0005a0001c0017t0005others(1): Show | a0001c0001t0016g0070a0001c0013t0005g0007a0001c0017t0005g0056others(1): Show | 4 | 212 | 0.0189 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03195.hp1 |
a0001 | a0001c0007 | a0001c0007t0003a0001c0007t0006 | a0001c0007t0003g0030a0001c0007t0006g0042 | 2 | 212 | 0.0094 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(58): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0005a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0044a0001c0001t0001g0061others(57): Show | 61 | 212 | 0.2877 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0009 | a0005c0009t0014 | a0005c0009t0014g0040 | 1 | 212 | 0.0047 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3713): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19240.hp2 |
a0005a0010 | a0005c0009a0010c0022 | a0005c0009t0005a0010c0022t0002 | a0005c0009t0005g0048a0010c0022t0002g0184 | 2 | 212 | 0.0094 | 3720 | c.111 others(3737): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716361 | G | GTGGTGGT others(3714): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0072 | 1 | 170 | 0.0059 | 3721 | c.86- others(3734): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |