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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3649): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0238 | 1 | 271 | 0.0037 | 3656 | c.174 others(3675): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3649): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0085 | 1 | 128 | 0.0078 | 3656 | c.765 others(3675): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3650): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0165a0001c0002t0002g0193 | 2 | 271 | 0.0074 | 3657 | c.174 others(3676): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113926211 | T | TTTGTCAC others(3651): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 2 | 350 | 0.0057 | 3658 | c.399 others(3677): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113926211 | T | TTTGTCAC others(3651): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0300 | 1 | 350 | 0.0029 | 3658 | c.399 others(3677): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113926211 | T | TTTGTCAC others(3652): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0272 | 1 | 350 | 0.0029 | 3659 | c.399 others(3678): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3652): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0125 | 1 | 271 | 0.0037 | 3659 | c.174 others(3678): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3652): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 271 | 0.0037 | 3659 | c.174 others(3678): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3652): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02738.hp1 HG03669.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0188a0001c0001t0001g0236a0001c0001t0002g0181others(1): Show | 4 | 271 | 0.0148 | 3659 | c.174 others(3678): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3652): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0061 | 1 | 271 | 0.0037 | 3659 | c.174 others(3678): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60619021 | C | CAGAACTT others(3652): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 46 | 0.0217 | 3659 | c.-17 others(3678): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(3652): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 308 | 0.0033 | 3659 | c.157 others(3674): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3652): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 80 | 0.0125 | 3659 | c.125 others(3676): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3652): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0088 | 1 | 250 | 0.0040 | 3659 | c.-21 others(3676): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3653): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 271 | 0.0037 | 3660 | c.174 others(3679): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3653): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 271 | 0.0037 | 3660 | c.174 others(3679): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3653): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01168.hp1 HG01168.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0042a0001c0001t0001g0043others(19): Show | 22 | 271 | 0.0812 | 3660 | c.174 others(3679): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3653): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02922.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0016others(6): Show | 9 | 271 | 0.0332 | 3660 | c.174 others(3679): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3653): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 271 | 0.0037 | 3660 | c.174 others(3679): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3654): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 271 | 0.0037 | 3661 | c.174 others(3680): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3654): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 271 | 0.0037 | 3661 | c.174 others(3680): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3654): Show |
intron_variant | MODIFIER | NA18963.hp1 NA19009.hp2 NA19058.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0173a0001c0001t0001g0174others(1): Show | 4 | 271 | 0.0148 | 3661 | c.174 others(3680): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAACTC others(3654): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0085 | a0001c0002t0085g0304 | 1 | 352 | 0.0028 | 3661 | c.299 others(3678): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3655): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 271 | 0.0037 | 3662 | c.174 others(3681): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3655): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 271 | 0.0037 | 3662 | c.174 others(3681): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3655): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03688.hp2 HG03927.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0191a0001c0001t0001g0202a0001c0001t0001g0205others(6): Show | 9 | 271 | 0.0332 | 3662 | c.174 others(3681): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3655): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0177 | 2 | 271 | 0.0074 | 3662 | c.174 others(3681): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3655): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0263 | 1 | 271 | 0.0037 | 3662 | c.174 others(3681): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6261799 | G | GTGACCCT others(3655): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0224 | 1 | 292 | 0.0034 | 3662 | c.571 others(3679): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
SMN2_chr5_70044669_70082595 | 70060727 | C | CTTTTTTT others(3655): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 108 | 0.0093 | 3662 | c.82- others(3677): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SPON1_chr11_13957723_14273133 | 14129695 | T | TACCAATT others(3655): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0208 | 1 | 224 | 0.0045 | 3662 | c.677 others(3679): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747263 | T | TGGGAGGC others(3655): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0094 | 1 | 314 | 0.0032 | 3662 | c.189 others(3679): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3656): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 334 | 0.0030 | 3663 | c.147 others(3680): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(3656): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 326 | 0.0031 | 3663 | c.-13 others(3682): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3656): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 271 | 0.0037 | 3663 | c.174 others(3682): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3656): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 271 | 0.0037 | 3663 | c.174 others(3682): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3656): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0138 | 1 | 271 | 0.0037 | 3663 | c.174 others(3682): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3656): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02004.hp2 HG02080.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0029a0001c0001t0001g0035a0001c0001t0001g0036others(9): Show | 12 | 271 | 0.0443 | 3663 | c.174 others(3682): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3656): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02135.hp1 NA18942.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0082others(3): Show | 6 | 271 | 0.0221 | 3663 | c.174 others(3682): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3656): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01516.hp2 HG01517.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0214others(3): Show | 6 | 271 | 0.0221 | 3663 | c.174 others(3682): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3656): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0151 | 1 | 271 | 0.0037 | 3663 | c.174 others(3682): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3656): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 271 | 0.0037 | 3663 | c.174 others(3682): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3656): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 271 | 0.0037 | 3663 | c.174 others(3682): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3656): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03098.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0002t0001g0161 | 3 | 271 | 0.0111 | 3663 | c.174 others(3682): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6261799 | G | GTGACCCT others(3656): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 292 | 0.0034 | 3663 | c.571 others(3680): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262058 | G | GTGACCCT others(3656): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 292 | 0.0034 | 3663 | c.571 others(3680): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262169 | G | GTGACCCT others(3656): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 292 | 0.0034 | 3663 | c.571 others(3680): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262169 | G | GTGACCCT others(3656): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02976.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0258a0002c0002t0002g0236 | 2 | 292 | 0.0069 | 3663 | c.571 others(3680): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3657): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 271 | 0.0037 | 3664 | c.174 others(3683): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91634745 | A | ACTGAAGG others(3657): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0076 | 1 | 271 | 0.0037 | 3664 | c.174 others(3683): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar |