view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TBC1D22A_chr22_46757650_47180693 | 46772220 | T | TACACATA others(417): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 112 | 0.0089 | 424 | c.62+ others(439): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46772292 | T | TACACATA others(417): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 112 | 0.0089 | 424 | c.62+ others(439): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46772292 | T | TACACATA others(417): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0085 | 1 | 112 | 0.0089 | 424 | c.62+ others(439): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235412166 | C | CCCTCCCC others(417): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 268 | 0.0037 | 424 | c.186 others(441): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376854 | T | TCCACCCA others(417): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0018 | a0018c0034 | a0018c0034t0007 | a0018c0034t0007g0311 | 1 | 370 | 0.0027 | 424 | c.-88 others(433): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 829 | chr19 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196335076 | A | ACTGGGAG others(417): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 370 | 0.0027 | 424 | c.-2+ others(439): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747993 | T | TGGGAGGC others(417): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0105 | a0002c0002t0105g0097 | 1 | 314 | 0.0032 | 424 | c.189 others(439): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM18_chr2_658877_682406 | 671858 | C | CCTGCATC others(417): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 2 | 442 | 0.0045 | 424 | c.233 others(439): Show |
TMEM18 | ENSG00000151353.15 | transcript | ENST00000281017.8 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930591 | A | AGGGTTAG others(417): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 466 | 0.0022 | 424 | c.*49 others(435): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4778 | chr11 | TogoVar | |||||||
TP73_chr1_3647516_3741201 | 3694416 | C | CCCTCCTC others(417): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0004 | a0004c0029 | a0004c0029t0055 | a0004c0029t0055g0326 | 1 | 358 | 0.0028 | 424 | c.186 others(443): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRIM28_chr19_58539064_58555715 | 58539989 | A | AAACACCC others(417): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 402 | 0.0025 | 424 | c.-47 others(435): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4074 | chr19 | TogoVar | |||||||
TRIM28_chr19_58539064_58555715 | 58539989 | A | AAACACCC others(417): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(16): Show |
88 | 402 | 0.2189 | 424 | c.-47 others(435): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4074 | chr19 | TogoVar | |||||||
TRIM28_chr19_58539064_58555715 | 58539989 | A | AAACACCC others(417): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 402 | 0.0050 | 424 | c.-47 others(435): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4074 | chr19 | TogoVar | |||||||
TRIM28_chr19_58539064_58555715 | 58540026 | A | ACAGAGAC others(417): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 402 | 0.0050 | 424 | c.-47 others(435): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4037 | chr19 | TogoVar | |||||||
TRPC4AP_chr20_34997404_35097807 | 35097652 | C | CATATACA others(417): Show |
upstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0146 | 1 | 334 | 0.0030 | 424 | c.-48 others(435): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4846 | chr20 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870126 | A | ACACACCA others(417): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 338 | 0.0030 | 424 | c.*35 others(443): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238880387 | G | GTTAGTGT others(417): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 338 | 0.0030 | 424 | c.*36 others(443): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(417): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 408 | 0.0025 | 424 | c.53+ others(439): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 598880 | G | GCCCCCCA others(417): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0128 | a0001c0001t0002g0213 a0001c0001t0128g0132 |
2 | 232 | 0.0086 | 424 | c.121 others(443): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370841 | C | CATATATC others(417): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 350 | 0.0029 | 424 | c.-36 others(435): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3527 | chr10 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919183 | A | ATATATAT others(417): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 383 | 0.0026 | 424 | c.-42 others(435): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4067 | chr19 | TogoVar | |||||||
ZSCAN22_chr19_58321994_58347332 | 58326541 | A | ACCCTCAG others(417): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0018 | a0001c0018t0017 | a0001c0018t0017g0127 | 1 | 400 | 0.0025 | 424 | c.-62 others(433): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 452 | chr19 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172050 | G | GGGATGGA others(418): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0217 | 1 | 357 | 0.0028 | 425 | c.278 others(444): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172204 | A | ATAAATGA others(418): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02818.hp1 |
a0008 | a0008c0011 | a0008c0011t0003 | a0008c0011t0003g0061 a0008c0011t0003g0062 |
2 | 357 | 0.0056 | 425 | c.278 others(444): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172211 | A | AGTGGGTG others(418): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02970.hp1 |
a0001a0004 | a0001c0066a0004c0084 | a0001c0066t0001a0004c0084t0001 | a0001c0066t0001g0312 a0004c0084t0001g0199 |
2 | 357 | 0.0056 | 425 | c.278 others(444): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172211 | A | AGTGGGTG others(418): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0047 | a0005c0047t0001 | a0005c0047t0001g0063 | 1 | 357 | 0.0028 | 425 | c.278 others(444): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(418): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0108 | a0002c0108t0002 | a0002c0108t0002g0210 | 1 | 276 | 0.0036 | 425 | c.535 others(442): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277913 | C | CGAGACCA others(418): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG03239.hp2 others(2): Show |
a0002a0003a0004 | a0002c0104a0003c0002a0003c0007others(2): Show | a0002c0104t0002a0003c0002t0001a0003c0007t0002others(2): Show | a0002c0104t0002g0235 a0003c0002t0001g0086 a0003c0007t0002g0082 others(2): Show |
5 | 276 | 0.0181 | 425 | c.535 others(442): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277946 | C | CGGCTGAC others(418): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0105 | a0002c0105t0027 | a0002c0105t0027g0221 | 1 | 276 | 0.0036 | 425 | c.535 others(442): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500842 | A | AGGGGAGG others(418): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 352 | 0.0028 | 425 | c.*51 others(436): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4179 | chr19 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(418): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 352 | 0.0028 | 425 | c.*51 others(436): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7918844 | T | TGCCGGAT others(418): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0005 | a0001c0002t0028a0001c0002t0030a0001c0004t0006others(2): Show | a0001c0002t0028g0016 a0001c0002t0030g0013 a0001c0004t0006g0014 others(3): Show |
6 | 318 | 0.0189 | 425 | c.-3+ others(442): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7918844 | T | TGCCGGAT others(418): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0210 | 1 | 318 | 0.0031 | 425 | c.-3+ others(442): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(418): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02723.hp1 HG02809.hp1 |
a0001a0002 | a0001c0001a0002c0019 | a0001c0001t0001a0002c0019t0001 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0002c0019t0001g0066 |
3 | 236 | 0.0127 | 425 | c.409 others(444): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(418): Show |
frameshift_variant | HIGH | NA18976.hp2 | a0039 | a0039c0052 | a0039c0052t0001 | a0039c0052t0001g0002 | 1 | 326 | 0.0031 | 425 | c.546 others(434): Show |
p.Ala others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(418): Show |
frameshift_variant | HIGH | NA19089.hp1 | a0049 | a0049c0063 | a0049c0063t0001 | a0049c0063t0001g0002 | 1 | 326 | 0.0031 | 425 | c.546 others(434): Show |
p.Ala others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
BFSP2_chr3_133395056_133480208 | 133425964 | A | AGGGGAGG others(418): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0211 | 1 | 276 | 0.0036 | 425 | c.490 others(444): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1431769 | G | GTCTGGTC others(418): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 360 | 0.0028 | 425 | c.92- others(440): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279062 | G | GGGAGGGA others(418): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 410 | 0.0024 | 425 | c.465 others(440): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138127006 | C | CCCCCGGC others(418): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG02109.hp1 HG02280.hp2 |
a0001a0002 | a0001c0003a0002c0009 | a0001c0003t0005a0001c0003t0045a0002c0009t0005 | a0001c0003t0005g0016 a0001c0003t0045g0008 a0002c0009t0005g0183 |
3 | 248 | 0.0121 | 425 | c.*50 others(436): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2388 | chr9 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(418): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0059 | a0059c0124 | a0059c0124t0037 | a0059c0124t0037g0067 | 1 | 338 | 0.0030 | 425 | c.300 others(442): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39602014 | T | TTCCCTCC others(418): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0021 | a0021c0051 | a0021c0051t0004 | a0021c0051t0004g0068 | 1 | 236 | 0.0042 | 425 | c.482 others(442): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544721 | C | CCTCCCCC others(418): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307 | 1 | 410 | 0.0024 | 425 | c.-22 others(442): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2909378 | T | TGCCCCTC others(418): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0215 | 1 | 322 | 0.0031 | 425 | c.326 others(442): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88894454 | G | GCACACAT others(418): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18964.hp1 NA18967.hp1 others(5): Show |
a0001a0019a0021 | a0001c0001a0019c0022a0021c0036 | a0001c0001t0001a0019c0022t0001a0021c0036t0001 | a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0072 others(5): Show |
8 | 284 | 0.0282 | 425 | c.380 others(442): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(418): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0164 | 1 | 256 | 0.0039 | 425 | c.-45 others(446): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP107_chr1_12741200_12768699 | 12762156 | C | CCACCTAC others(418): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp1 NA19240.hp2 |
a0003 | a0003c0005 | a0003c0005t0022a0003c0005t0023 | a0003c0005t0022g0034 a0003c0005t0023g0035 |
2 | 336 | 0.0060 | 425 | c.*12 others(436): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 4/4 | 1240 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(418): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0008 | a0008c0018 | a0008c0018t0020 | a0008c0018t0020g0048 | 1 | 354 | 0.0028 | 425 | c.*69 others(436): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCTT others(418): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0001 | 1 | 354 | 0.0028 | 425 | c.*69 others(436): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(418): Show |
intron_variant | MODIFIER | NA19011.hp2 NA19082.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0043a0001c0003t0001 | a0001c0001t0043g0076 a0001c0003t0001g0106 |
2 | 270 | 0.0074 | 425 | c.162 others(446): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |