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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFNAR1_chr21_33319970_33364864 | 33322664 | T | TACGGAAT others(3262): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 323 | 0.0031 | 3269 | c.-23 others(3280): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2305 | chr21 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(3262): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0360 | 1 | 373 | 0.0027 | 3269 | c.115 others(3286): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3263): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 316 | 0.0032 | 3270 | c.44- others(3283): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322690 | C | CGGAATGT others(3263): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 323 | 0.0031 | 3270 | c.-23 others(3281): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2279 | chr21 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3263): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0007 | a0001c0007t0022 | a0001c0007t0022g0276 | 1 | 282 | 0.0036 | 3270 | c.299 others(3285): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3264): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0172 | 1 | 318 | 0.0031 | 3271 | c.813 others(3288): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3264): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 | 1 | 268 | 0.0037 | 3271 | c.139 others(3292): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3264): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0158 | 1 | 214 | 0.0047 | 3271 | c.206 others(3290): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3265): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 316 | 0.0032 | 3272 | c.44- others(3285): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(3265): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0145 | 1 | 308 | 0.0033 | 3272 | c.157 others(3287): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3265): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0101 | 1 | 276 | 0.0036 | 3272 | c.58- others(3289): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15568002 | T | TGGAATTG others(3266): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0003 | a0003c0003t0028 | a0003c0003t0028g0249 | 1 | 266 | 0.0038 | 3273 | c.42- others(3288): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3266): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 316 | 0.0032 | 3273 | c.44- others(3286): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3266): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01934.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(2): Show | a0001c0001t0001g0189a0001c0001t0001g0200a0001c0001t0002g0086others(6): Show | 9 | 268 | 0.0336 | 3273 | c.139 others(3294): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3266): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01257.hp2 HG01433.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0004a0001c0002t0003a0001c0002t0004others(5): Show | a0001c0001t0004g0031a0001c0001t0004g0087a0001c0001t0004g0147others(14): Show | 17 | 268 | 0.0634 | 3273 | c.139 others(3294): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3266): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0171 | 1 | 268 | 0.0037 | 3273 | c.139 others(3294): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3266): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0030 | 1 | 268 | 0.0037 | 3273 | c.139 others(3294): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3266): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0163 | 1 | 268 | 0.0037 | 3273 | c.139 others(3294): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163209 | T | TCTCCCTC others(3266): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0188 | 1 | 282 | 0.0036 | 3273 | c.258 others(3290): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3266): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 314 | 0.0032 | 3273 | c.-26 others(3292): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3266): Show |
intron_variant | MODIFIER | NA19001.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0158 | 2 | 314 | 0.0064 | 3273 | c.-26 others(3292): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3266): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 314 | 0.0032 | 3273 | c.-26 others(3292): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3266): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0168a0001c0001t0007g0163 | 2 | 314 | 0.0064 | 3273 | c.-26 others(3292): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3266): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 314 | 0.0032 | 3273 | c.-26 others(3292): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBE2E2_chr3_23198327_23596794 | 23219164 | G | GGCTCCTT others(3266): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 336 | 0.0030 | 3273 | c.227 others(3290): Show |
UBE2E2 | ENSG00000182247.11 | transcript | ENST00000396703.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15568002 | T | TGGAATTG others(3267): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0247 | 1 | 266 | 0.0038 | 3274 | c.42- others(3289): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3267): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0145 | 1 | 314 | 0.0032 | 3274 | c.-26 others(3293): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3267): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18940.hp1 NA18983.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0136a0001c0001t0001g0137others(1): Show | 4 | 314 | 0.0127 | 3274 | c.-26 others(3293): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3267): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG02027.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0014a0003c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128others(24): Show | 27 | 314 | 0.0860 | 3274 | c.-26 others(3293): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3267): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 314 | 0.0032 | 3274 | c.-26 others(3293): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3267): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0151 | 1 | 214 | 0.0047 | 3274 | c.206 others(3293): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15568002 | T | TGGAATTG others(3268): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0248 | 1 | 266 | 0.0038 | 3275 | c.42- others(3290): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15568002 | T | TGGAATTG others(3268): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0246 | 1 | 266 | 0.0038 | 3275 | c.42- others(3290): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15568002 | T | TGGAATTG others(3268): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 |
a0005 | a0005c0005a0005c0016 | a0005c0005t0005a0005c0016t0005 | a0005c0005t0005g0251a0005c0016t0005g0250 | 2 | 266 | 0.0075 | 3275 | c.42- others(3290): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15568002 | T | TGGAATTG others(3268): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0244 | 1 | 266 | 0.0038 | 3275 | c.42- others(3290): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3268): Show |
intron_variant | MODIFIER | NA19007.hp1 NA19010.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0002 | a0001c0002t0002g0021a0001c0006t0002g0174 | 2 | 268 | 0.0075 | 3275 | c.139 others(3296): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(3268): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 168 | 0.0060 | 3275 | c.206 others(3296): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(3268): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0115 | 1 | 168 | 0.0060 | 3275 | c.206 others(3296): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3268): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18975.hp1 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0005g0148others(1): Show | 4 | 314 | 0.0127 | 3275 | c.-26 others(3294): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15568002 | T | TGGAATTG others(3269): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0239 | 1 | 266 | 0.0038 | 3276 | c.42- others(3291): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15568002 | T | TGGAATTG others(3269): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02809.hp1 |
a0005 | a0005c0005 | a0005c0005t0005a0005c0005t0009 | a0005c0005t0005g0245a0005c0005t0009g0240 | 2 | 266 | 0.0075 | 3276 | c.42- others(3291): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3269): Show |
intron_variant | MODIFIER | HG01358.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0114a0001c0001t0018g0122 | 2 | 175 | 0.0114 | 3276 | c.164 others(3295): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50057681 | A | AGGACTCT others(3269): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0051 | 1 | 175 | 0.0057 | 3276 | c.164 others(3295): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(3269): Show |
intron_variant | MODIFIER | HG01074.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0034a0001c0001t0008g0033 | 2 | 290 | 0.0069 | 3276 | c.162 others(3295): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3269): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 264 | 0.0038 | 3276 | c.400 others(3295): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3269): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 314 | 0.0032 | 3276 | c.-26 others(3295): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3269): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 314 | 0.0032 | 3276 | c.-26 others(3295): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3269): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0060 | a0001c0003t0060g0195 | 1 | 250 | 0.0040 | 3276 | c.-21 others(3293): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3269): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0194 | 1 | 250 | 0.0040 | 3276 | c.-21 others(3293): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15568002 | T | TGGAATTG others(3270): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0005 | a0005c0005 | a0005c0005t0029 | a0005c0005t0029g0241 | 1 | 266 | 0.0038 | 3277 | c.42- others(3292): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |