| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHMP1A_chr16_89639435_89662708 | 89648152 | A | AGACCCAG others(245): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 392 | 0.0026 | 252 | c.253 others(267): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648195 | G | GACCCAGT others(245): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0305 | 1 | 392 | 0.0026 | 252 | c.253 others(267): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648202 | C | CGCGGGGT others(245): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 392 | 0.0026 | 252 | c.253 others(267): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648309 | C | CGCCGACG others(245): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 392 | 0.0026 | 252 | c.253 others(267): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648321 | G | GACCCAGC others(245): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 392 | 0.0026 | 252 | c.253 others(267): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648435 | C | CGCCGACG others(245): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 392 | 0.0026 | 252 | c.252 others(267): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHST5_chr16_75523530_75541108 | 75526189 | G | GTGTGCAT others(245): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0006 | a0004c0006t0013 | a0004c0006t0013g0063 | 1 | 394 | 0.0025 | 252 | c.*29 others(263): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 2340 | chr16 | TogoVar | ||||||
| CLEC10A_chr17_7069537_7085251 | 7077716 | A | ACCATCAA others(245): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG02145.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 3 | 458 | 0.0066 | 252 | c.184 others(267): Show |
CLEC10A | ENSG00000132514.14 | transcript | ENST00000416562.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
| CLTCL1_chr22_19174473_19296719 | 19202393 | A | ACCCTCCT others(245): Show |
intron_variant | MODIFIER | HG03834.hp2 NA19057.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0002 | a0001c0003t0001g0172a0002c0001t0002g0146 | 2 | 346 | 0.0058 | 252 | c.360 others(269): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | ||||||
| CNOT3_chr19_54132762_54160681 | 54133834 | T | TCCCTCTC others(245): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 223 | 0.0045 | 252 | c.-42 others(263): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3927 | chr19 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110255884 | A | AAGGGGGA others(245): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0066 | 1 | 344 | 0.0029 | 252 | c.85- others(269): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110255884 | A | AAGGGGGA others(245): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0323 | 1 | 344 | 0.0029 | 252 | c.85- others(269): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| COL6A2_chr21_46093112_46134801 | 46134449 | C | CAGGGTCA others(245): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0003 | a0003c0004 | a0003c0004t0014 | a0003c0004t0014g0214 | 1 | 372 | 0.0027 | 252 | c.*49 others(263): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4649 | chr21 | TogoVar | ||||||
| CR1L_chr1_207640133_207728703 | 207686116 | C | CTCCCTCC others(245): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG03130.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0008c0012t0001 | a0001c0001t0001g0231a0001c0001t0001g0255a0008c0012t0001g0179others(1): Show | 4 | 346 | 0.0116 | 252 | c.463 others(269): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1L_chr1_207640133_207728703 | 207686116 | C | CTCCCTCC others(245): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0225 | 1 | 346 | 0.0029 | 252 | c.463 others(269): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1L_chr1_207640133_207728703 | 207686116 | C | CTCCCTCC others(245): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 346 | 0.0029 | 252 | c.463 others(269): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1L_chr1_207640133_207728703 | 207686122 | C | CCCTCCCT others(245): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 346 | 0.0058 | 252 | c.463 others(269): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1L_chr1_207640133_207728703 | 207686122 | C | CCCTCCCT others(245): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp2 others(20): Show |
a0001a0003a0021 | a0001c0001a0003c0003a0021c0018 | a0001c0001t0001a0003c0003t0001a0021c0018t0001 | a0001c0001t0001g0012a0001c0001t0001g0151a0001c0001t0001g0154others(19): Show | 23 | 346 | 0.0665 | 252 | c.463 others(269): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1L_chr1_207640133_207728703 | 207686126 | T | TCCTTCCT others(245): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0230 | 1 | 346 | 0.0029 | 252 | c.463 others(269): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CSTPP1_chr11_46931761_47167247 | 47036037 | A | AAAAGTGG others(245): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196a0001c0001t0002g0199a0001c0001t0002g0205others(6): Show | 9 | 224 | 0.0402 | 252 | c.150 others(271): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
| CTDP1_chr18_79674803_79759503 | 79746154 | T | TCCCCGCG others(245): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0305 | 1 | 378 | 0.0027 | 252 | c.274 others(271): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CTDP1_chr18_79674803_79759503 | 79752661 | C | CGGCTGGT others(245): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0124 | 1 | 378 | 0.0027 | 252 | c.274 others(269): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CTNND2_chr5_10966836_11909446 | 11129176 | T | TATTTATA others(245): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18522.hp2 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0003a0002c0008t0001 | a0001c0001t0003g0026a0002c0008t0001g0014 | 2 | 26 | 0.0769 | 252 | c.216 others(273): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 12/21 | chr5 | TogoVar | ||||||
| CYSLTR1_chrX_78266468_78332611 | 78269106 | A | AATATATA others(245): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 240 | 0.0042 | 252 | c.*36 others(263): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 2361 | chrX | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765320 | G | GCCCCGGG others(245): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0005 | a0004c0005t0050 | a0004c0005t0050g0074 | 1 | 412 | 0.0024 | 252 | c.130 others(271): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765475 | G | GGGCTGAG others(245): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0164 | 1 | 412 | 0.0024 | 252 | c.130 others(271): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 478383 | G | GGAGGGAA others(245): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 88 | 0.0114 | 252 | c.158 others(269): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 478386 | G | GAAGAAGG others(245): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 88 | 0.0114 | 252 | c.158 others(269): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DLEC1_chr3_38034208_38129025 | 38084317 | A | AGTGGTAG others(245): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0027 | a0027c0048 | a0027c0048t0001 | a0027c0048t0001g0195 | 1 | 298 | 0.0034 | 252 | c.126 others(267): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1206550 | G | GTTAATCT others(245): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18906.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0022a0002c0001t0002 | a0001c0002t0022g0034a0002c0001t0002g0032 | 2 | 40 | 0.0500 | 252 | c.74- others(269): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DNAH17_chr17_78418697_78582396 | 78541139 | G | GGGTGGGG others(245): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0004 | a0004c0176 | a0004c0176t0001 | a0004c0176t0001g0026 | 1 | 252 | 0.0040 | 252 | c.253 others(271): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
| DNAI7_chr12_25103289_25200160 | 25106550 | G | GTACAGTA others(245): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 NA18989.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0327a0002c0002t0001g0192 | 2 | 336 | 0.0060 | 252 | c.*19 others(263): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 1738 | chr12 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400007 | C | CCACCATC others(245): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0048 | 1 | 256 | 0.0039 | 252 | c.323 others(269): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400394 | C | CCACCATC others(245): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0016 | a0016c0081 | a0016c0081t0001 | a0016c0081t0001g0082 | 1 | 256 | 0.0039 | 252 | c.323 others(271): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400559 | A | ACCACCAC others(245): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0025 | a0025c0126 | a0025c0126t0002 | a0025c0126t0002g0122 | 1 | 256 | 0.0039 | 252 | c.323 others(271): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DUSP8_chr11_1549051_1577271 | 1551449 | C | CCAACCAC others(245): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 367 | 0.0027 | 252 | c.*50 others(263): Show |
DUSP8 | ENSG00000184545.11 | transcript | ENST00000397374.8 | protein_coding | 2601 | chr11 | TogoVar | ||||||
| EFCAB13_chr17_47318955_47446312 | 47325026 | C | CCCCCCCC others(245): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02055.hp1 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0072a0001c0006t0002g0073 | 2 | 356 | 0.0056 | 252 | c.-24 others(269): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| EFCAB13_chr17_47318955_47446312 | 47325026 | C | CCCCCCCC others(245): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02818.hp1 |
a0001 | a0001c0006 | a0001c0006t0002a0001c0006t0003 | a0001c0006t0002g0102a0001c0006t0003g0101 | 2 | 356 | 0.0056 | 252 | c.-24 others(269): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| EFNA2_chr19_1280873_1306431 | 1300399 | C | CGGGAACA others(245): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG01952.hp2 HG02004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0074 | a0001c0001t0019g0026a0001c0001t0019g0069a0001c0001t0019g0128others(1): Show | 4 | 294 | 0.0136 | 252 | c.*63 others(261): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 4/4 | 634 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| EHMT1_chr9_137614005_137841127 | 137781182 | G | GGACGTGT others(245): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 170 | 0.0059 | 252 | c.227 others(271): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EHMT1_chr9_137614005_137841127 | 137781182 | G | GGACGTGT others(245): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 170 | 0.0059 | 252 | c.227 others(271): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1122642 | T | TATCTGTG others(245): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0092 | a0001c0003t0092g0004 | 1 | 162 | 0.0062 | 252 | c.156 others(271): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERICH1_chr8_659200_736224 | 688310 | C | CCCGGCCC others(245): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 378 | 0.0027 | 252 | c.304 others(269): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137322959 | C | CTCTGCCG others(245): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG03669.hp2 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0002g0001a0002c0002t0001g0081a0003c0003t0001g0073others(1): Show | 4 | 82 | 0.0488 | 252 | c.218 others(269): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137322959 | C | CTCTGCCG others(245): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 82 | 0.0122 | 252 | c.218 others(269): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
| EXPH5_chr11_108500435_108598768 | 108586574 | C | CCCCCTTT others(245): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02630.hp2 others(2): Show |
a0002a0010 | a0002c0002a0010c0008 | a0002c0002t0007a0010c0008t0006a0010c0008t0037 | a0002c0002t0007g0108a0010c0008t0006g0105a0010c0008t0006g0106others(2): Show | 5 | 314 | 0.0159 | 252 | c.119 others(269): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| FAF2_chr5_176443385_176515074 | 176451819 | T | TATATACA others(245): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 372 | 0.0027 | 252 | c.63+ others(267): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FBN2_chr5_128252909_128543245 | 128539808 | T | TCATATAT others(245): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0014 | a0001c0014t0014 | a0001c0014t0014g0112 | 1 | 236 | 0.0042 | 252 | c.-22 others(263): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1564 | chr5 | TogoVar | ||||||
| FBN2_chr5_128252909_128543245 | 128539958 | T | TATATCAT others(245): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0030 | 1 | 236 | 0.0042 | 252 | c.-23 others(263): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1714 | chr5 | TogoVar | ||||||
| FER1L5_chr2_96637764_96709883 | 96659509 | C | CTTTCTTT others(245): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0162 | 1 | 226 | 0.0044 | 252 | c.748 others(267): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | chr2 | TogoVar |