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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3639): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0173 | 1 | 236 | 0.0042 | 3646 | c.294 others(3663): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3639): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0176 | 1 | 236 | 0.0042 | 3646 | c.294 others(3663): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896502 | A | AGGGGGTG others(3639): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 | 1 | 37 | 0.0270 | 3646 | c.161 others(3661): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434576 | G | GATCATGA others(3639): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046 | 1 | 212 | 0.0047 | 3646 | c.111 others(3663): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3639): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0016 | a0016c0021 | a0016c0021t0005 | a0016c0021t0005g0118 | 1 | 128 | 0.0078 | 3646 | c.765 others(3665): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(3640): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0260 | 1 | 308 | 0.0033 | 3647 | c.157 others(3662): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3640): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0077 | 1 | 250 | 0.0040 | 3647 | c.-21 others(3664): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(3641): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 323 | 0.0031 | 3648 | c.-21 others(3659): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3641): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0227 | 1 | 282 | 0.0036 | 3648 | c.299 others(3663): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3641): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0012 | a0003c0012t0108 | a0003c0012t0108g0100 | 1 | 250 | 0.0040 | 3648 | c.-21 others(3665): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3643): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 334 | 0.0030 | 3650 | c.147 others(3667): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3643): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022 | 1 | 271 | 0.0037 | 3650 | c.174 others(3669): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3643): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03098.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0005t0006 | a0001c0001t0003g0036a0001c0001t0004g0033a0001c0005t0006g0010 | 3 | 212 | 0.0142 | 3650 | c.111 others(3667): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3643): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0079a0001c0001t0013g0073 | 2 | 212 | 0.0094 | 3650 | c.111 others(3667): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3644): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 271 | 0.0037 | 3651 | c.174 others(3670): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(3644): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0138 | 1 | 308 | 0.0033 | 3651 | c.157 others(3666): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB3B_chr1_51902956_51995700 | 51906876 | G | GGAAGGAA others(3644): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0062 | 1 | 62 | 0.0161 | 3651 | c.*13 others(3664): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1079 | chr1 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3646): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 271 | 0.0037 | 3653 | c.174 others(3672): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3646): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0113 | 1 | 271 | 0.0037 | 3653 | c.174 others(3672): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3646): Show |
intron_variant | MODIFIER | HG01515.hp2 NA19001.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0098a0002c0003t0002g0139 | 2 | 271 | 0.0074 | 3653 | c.174 others(3672): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3646): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 271 | 0.0037 | 3653 | c.174 others(3672): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3646): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0032 | a0032c0034 | a0032c0034t0019 | a0032c0034t0019g0192 | 1 | 282 | 0.0036 | 3653 | c.299 others(3668): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3647): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0103 | 1 | 271 | 0.0037 | 3654 | c.174 others(3673): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3647): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01978.hp1 |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0002a0005c0009t0002 | a0001c0002t0002g0079a0005c0009t0002g0127 | 2 | 271 | 0.0074 | 3654 | c.174 others(3673): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3647): Show |
intron_variant | MODIFIER | NA18955.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0094 | 2 | 271 | 0.0074 | 3654 | c.174 others(3673): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3647): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01175.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0032a0001c0001t0001g0041a0001c0001t0001g0054others(9): Show | 12 | 271 | 0.0443 | 3654 | c.174 others(3673): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3647): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 271 | 0.0037 | 3654 | c.174 others(3673): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3647): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03654.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0233a0001c0002t0002g0023 | 2 | 271 | 0.0074 | 3654 | c.174 others(3673): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3647): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01192.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0019others(12): Show | 15 | 271 | 0.0554 | 3654 | c.174 others(3673): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3647): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 271 | 0.0037 | 3654 | c.174 others(3673): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3647): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01169.hp2 NA18957.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0081a0001c0001t0001g0216others(3): Show | 6 | 271 | 0.0221 | 3654 | c.174 others(3673): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3647): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0261 | 1 | 271 | 0.0037 | 3654 | c.174 others(3673): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3647): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 271 | 0.0037 | 3654 | c.174 others(3673): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCCTTC others(3647): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0060 | a0060c0080 | a0060c0080t0011 | a0060c0080t0011g0057 | 1 | 174 | 0.0058 | 3654 | c.193 others(3673): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431985 | T | TAGGGTGG others(3647): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0311 | 1 | 376 | 0.0027 | 3654 | c.101 others(3671): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3648): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0112a0001c0002t0002g0252 | 2 | 271 | 0.0074 | 3655 | c.174 others(3674): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3648): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 271 | 0.0037 | 3655 | c.174 others(3674): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3648): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 271 | 0.0037 | 3655 | c.174 others(3674): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3648): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0257a0001c0002t0002g0258a0001c0002t0002g0259others(1): Show | 4 | 271 | 0.0148 | 3655 | c.174 others(3674): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3648): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 271 | 0.0037 | 3655 | c.174 others(3674): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586193 | A | AGTCAAAG others(3648): Show |
splice_region_variant others(1): Show |
LOW | NA19085.hp2 | a0022 | a0022c0029 | a0022c0029t0002 | a0022c0029t0002g0100 | 1 | 308 | 0.0033 | 3655 | c.157 others(3668): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TNN_chr1_175062833_175153075 | 175103565 | G | GCTGTTTT others(3648): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0029 | a0002c0029t0001 | a0002c0029t0001g0055 | 1 | 374 | 0.0027 | 3655 | c.211 others(3674): Show |
TNN | ENSG00000120332.17 | transcript | ENST00000239462.9 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3649): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0265 | 1 | 271 | 0.0037 | 3656 | c.174 others(3675): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3649): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 271 | 0.0037 | 3656 | c.174 others(3675): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3649): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0116a0001c0001t0001g0123a0001c0001t0001g0124others(3): Show | 6 | 271 | 0.0221 | 3656 | c.174 others(3675): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3649): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 271 | 0.0037 | 3656 | c.174 others(3675): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3649): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0115 | 1 | 271 | 0.0037 | 3656 | c.174 others(3675): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3649): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 271 | 0.0037 | 3656 | c.174 others(3675): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3649): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 271 | 0.0037 | 3656 | c.174 others(3675): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3649): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140a0001c0002t0001g0178 | 2 | 271 | 0.0074 | 3656 | c.174 others(3675): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar |