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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF2S1_chr14_67355328_67391516 | 67366833 | T | TAAGAAAG others(99): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0162 others(4): Show |
11 | 368 | 0.0299 | 106 | c.241 others(123): Show |
EIF2S1 | ENSG00000134001.15 | transcript | ENST00000256383.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315990 | A | ACCACCAC others(99): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 250 | 0.0040 | 106 | c.259 others(125): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3316029 | C | CACCACCA others(99): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 250 | 0.0040 | 106 | c.259 others(125): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50495233 | G | GGGGAGAG others(99): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 352 | 0.0028 | 106 | c.*12 others(119): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 4363 | chr19 | TogoVar | |||||||
ENPP7_chr17_79725943_79747219 | 79732136 | A | ATATATAT others(99): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0203 | 1 | 430 | 0.0023 | 106 | c.253 others(121): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27501381 | C | CTTTCTTC others(99): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0014 | a0014c0035 | a0014c0035t0001 | a0014c0035t0001g0187 | 1 | 374 | 0.0027 | 106 | c.186 others(121): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27501387 | C | CTTCTTCT others(99): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 374 | 0.0027 | 106 | c.186 others(121): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143878404 | G | GCCGCACC others(99): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0020 | a0020c0286 | a0020c0286t0006 | a0020c0286t0006g0385 | 1 | 424 | 0.0024 | 106 | c.-46 others(119): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143878404 | G | GCCGCACC others(99): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01243.hp2 others(1): Show |
a0004a0008a0090others(1): Show | a0004c0194a0008c0092a0090c0285others(1): Show | a0004c0194t0003a0008c0092t0002a0090c0285t0002others(1): Show | a0004c0194t0003g0382 a0008c0092t0002g0383 a0090c0285t0002g0381 others(1): Show |
4 | 424 | 0.0094 | 106 | c.-46 others(119): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
EPS8L2_chr11_701231_732727 | 720978 | G | GCCGGCAG others(99): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 406 | 0.0025 | 106 | c.558 others(119): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212249437 | T | TAGAAAAG others(99): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03834.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0016 a0001c0001t0005g0044 a0001c0001t0006g0026 |
3 | 56 | 0.0536 | 106 | c.83- others(125): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212249437 | T | TAGAAAAG others(99): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 56 | 0.0179 | 106 | c.83- others(125): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1090860 | G | GAAAGTGC others(99): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0012 | 1 | 162 | 0.0062 | 106 | c.108 others(125): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | chr12 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1122391 | A | ATCTCTAT others(99): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0089 | a0002c0002t0089g0037 | 1 | 162 | 0.0062 | 106 | c.156 others(125): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122523 | A | ATCTCTAT others(99): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01257.hp2 HG01981.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0112a0001c0001t0113others(2): Show | a0001c0001t0011g0034 a0001c0001t0112g0052 a0001c0001t0113g0062 others(2): Show |
5 | 162 | 0.0309 | 106 | c.156 others(125): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56040580 | C | CATATACA others(99): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 74 | 0.0135 | 106 | c.164 others(127): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236245498 | A | ATATATAT others(99): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG03130.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0010a0003c0004t0070 | a0003c0004t0010g0180 a0003c0004t0010g0182 a0003c0004t0010g0205 others(1): Show |
4 | 396 | 0.0101 | 106 | c.432 others(123): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236245498 | A | ATATATAT others(99): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0005 | a0003c0005t0039 | a0003c0005t0039g0287 | 1 | 396 | 0.0025 | 106 | c.432 others(123): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
ESPNL_chr2_238095340_238138287 | 238119564 | A | ATGGAGGA others(99): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02559.hp1 |
a0015 | a0015c0124a0015c0137 | a0015c0124t0003a0015c0137t0003 | a0015c0124t0003g0165 a0015c0137t0003g0164 |
2 | 408 | 0.0049 | 106 | c.987 others(123): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151850114 | T | TTATATAT others(99): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(44): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0044 others(44): Show |
47 | 250 | 0.1880 | 106 | c.643 others(123): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729420 | T | TGTGGAGG others(99): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG03486.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0016a0001c0008t0033a0001c0008t0034 | a0001c0008t0016g0223 a0001c0008t0016g0226 a0001c0008t0033g0224 others(1): Show |
4 | 370 | 0.0108 | 106 | c.*47 others(117): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1576 | chr7 | TogoVar | |||||||
FAIM_chr3_138603771_138638376 | 138609535 | T | TCTCTCTC others(99): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 368 | 0.0027 | 106 | c.-17 others(121): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAM53A_chr4_1634887_1689313 | 1671491 | C | CCCAGCTC others(99): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02965.hp2 HG03579.hp1 |
a0003 | a0003c0004 | a0003c0004t0022 | a0003c0004t0022g0131 a0003c0004t0022g0150 a0003c0004t0022g0316 |
3 | 350 | 0.0086 | 106 | c.-16 others(125): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
FBXL16_chr16_687500_710801 | 696678 | T | TCCCACCC others(99): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03225.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0024 a0001c0001t0024g0067 |
3 | 372 | 0.0081 | 106 | c.633 others(119): Show |
FBXL16 | ENSG00000127585.13 | transcript | ENST00000397621.6 | protein_coding | 2/5 | chr16 | TogoVar | |||||||
FBXL16_chr16_687500_710801 | 696678 | T | TCCCACCC others(99): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(202): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0035 a0001c0001t0001g0099 a0001c0001t0001g0103 others(95): Show |
205 | 372 | 0.5511 | 106 | c.633 others(119): Show |
FBXL16 | ENSG00000127585.13 | transcript | ENST00000397621.6 | protein_coding | 2/5 | chr16 | TogoVar | |||||||
FBXL16_chr16_687500_710801 | 696730 | G | GCCCCTGC others(99): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 372 | 0.0027 | 106 | c.633 others(119): Show |
FBXL16 | ENSG00000127585.13 | transcript | ENST00000397621.6 | protein_coding | 2/5 | chr16 | TogoVar | |||||||
FBXO11_chr2_47801920_47911498 | 47900685 | C | CACACACG others(99): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 318 | 0.0031 | 106 | c.232 others(123): Show |
FBXO11 | ENSG00000138081.22 | transcript | ENST00000403359.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
FER1L6_chr8_123846987_124125061 | 123856031 | A | ATATGATA others(99): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02615.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0002t0003a0001c0006t0003others(3): Show | a0001c0001t0002g0047 a0001c0002t0003g0023 a0001c0002t0003g0024 others(4): Show |
7 | 196 | 0.0357 | 106 | c.-8+ others(121): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FER1L6_chr8_123846987_124125061 | 123856188 | T | TATGTGTA others(99): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0186 | 1 | 196 | 0.0051 | 106 | c.-8+ others(121): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FER1L6_chr8_123846987_124125061 | 123856215 | T | TATGTGTA others(99): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0046 | 1 | 196 | 0.0051 | 106 | c.-8+ others(121): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FGL1_chr8_17859389_17900524 | 17883105 | A | AATATATA others(99): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(61): Show |
a0001a0004a0007others(2): Show | a0001c0001a0004c0004a0007c0007others(2): Show | a0001c0001t0001a0004c0004t0001a0007c0007t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0020 others(43): Show |
64 | 366 | 0.1749 | 106 | c.64- others(119): Show |
FGL1 | ENSG00000104760.17 | transcript | ENST00000427924.5 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
FGL1_chr8_17859389_17900524 | 17883105 | A | AATATATA others(99): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 366 | 0.0027 | 106 | c.64- others(119): Show |
FGL1 | ENSG00000104760.17 | transcript | ENST00000427924.5 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
FHAD1_chr1_15242223_15403328 | 15388335 | C | CCCCTCCC others(99): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp2 others(118): Show |
a0001a0003a0005others(15): Show | a0001c0001a0001c0002a0001c0008others(41): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(65): Show | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0049 others(118): Show |
121 | 294 | 0.4116 | 106 | c.426 others(123): Show |
FHAD1 | ENSG00000142621.21 | transcript | ENST00000688493.1 | protein_coding | 32/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FLT1_chr13_28295346_28500128 | 28453025 | C | CCCCTCCC others(99): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0005 | a0005c0017 | a0005c0017t0002 | a0005c0017t0002g0211 | 1 | 228 | 0.0044 | 106 | c.388 others(125): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 3/29 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999036 | C | CATATAAA others(99): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG02155.hp1 HG03710.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0004t0002a0002c0002t0002others(1): Show | a0001c0001t0002g0030 a0001c0001t0002g0060 a0001c0001t0002g0073 others(4): Show |
7 | 292 | 0.0240 | 106 | c.*50 others(117): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4237 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999036 | C | CATATAAA others(99): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 NA20905.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0075 a0003c0003t0002g0199 |
2 | 292 | 0.0069 | 106 | c.*50 others(117): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4237 | chr13 | TogoVar | |||||||
FOLR1_chr11_72187140_72201299 | 72201298 | G | GTATACGT others(99): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 412 | 0.0049 | 106 | c.*51 others(117): Show |
FOLR1 | ENSG00000110195.14 | transcript | ENST00000393676.5 | protein_coding | 5000 | chr11 | TogoVar | |||||||
FOXJ3_chr1_42171548_42340235 | 42222032 | A | AGGGGGAG others(99): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 332 | 0.0030 | 106 | c.528 others(123): Show |
FOXJ3 | ENSG00000198815.9 | transcript | ENST00000361346.6 | protein_coding | 5/12 | chr1 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71396715 | G | GAAGACAC others(99): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0047 | 1 | 96 | 0.0104 | 106 | c.-16 others(127): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FREM1_chr9_14732152_14915428 | 14860853 | G | GTATATAC others(99): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02896.hp1 HG02897.hp2 |
a0003a0018 | a0003c0051a0018c0236 | a0003c0051t0001a0018c0236t0010 | a0003c0051t0001g0034 a0003c0051t0001g0035 a0018c0236t0010g0001 |
3 | 346 | 0.0087 | 106 | c.330 others(123): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 3/36 | chr9 | TogoVar | |||||||
FREM1_chr9_14732152_14915428 | 14860928 | C | CGTATATA others(99): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 |
a0065a0081 | a0065c0150a0081c0148 | a0065c0150t0003a0081c0148t0003 | a0065c0150t0003g0043 a0081c0148t0003g0042 |
2 | 346 | 0.0058 | 106 | c.330 others(123): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 3/36 | chr9 | TogoVar | |||||||
FRMD3_chr9_83239622_83543401 | 83479630 | A | AAGAAAGA others(99): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03654.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007 | a0001c0002t0003g0033 a0001c0002t0007g0142 |
2 | 242 | 0.0083 | 106 | c.147 others(125): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 13884210 | A | ACACACAC others(99): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0071 | 1 | 134 | 0.0075 | 106 | c.46- others(123): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49127751 | T | TTCTTCTT others(99): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 350 | 0.0029 | 106 | c.152 others(125): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49127899 | T | TTCTTCTT others(99): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 350 | 0.0029 | 106 | c.152 others(125): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161783677 | C | CCCTTCCT others(99): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0135 | 1 | 142 | 0.0070 | 106 | c.410 others(123): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161992915 | T | TATGTATA others(99): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 142 | 0.0070 | 106 | c.160 others(125): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 3/15 | chr4 | TogoVar | |||||||
FXYD3_chr19_35110823_35129324 | 35116782 | A | GCATTGAG others(99): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 414 | 0.0024 | 106 | c.-15 others(121): Show |
FXYD3 | ENSG00000089356.19 | transcript | ENST00000604404.6 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27388157 | A | AGGAAAGG others(99): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0080 | 1 | 92 | 0.0109 | 106 | c.574 others(125): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAK_chr4_844277_937316 | 926877 | C | CCTCCCCG others(99): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 390 | 0.0026 | 106 | c.145 others(123): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar |