| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206 | 1 | 238 | 0.0042 | 30 | c.-10 others(47): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EYA3_chr1_27965344_28093610 | 28073103 | T | TTCTATAT others(23): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 392 | 0.0026 | 30 | c.-68 others(49): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
| EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02896.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0004g0348a0001c0001t0008g0199a0001c0001t0009g0093others(2): Show | 5 | 392 | 0.0128 | 30 | c.-68 others(49): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
| EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 392 | 0.0026 | 30 | c.-68 others(49): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
| EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18906.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009a0001c0001t0003g0025a0001c0001t0003g0027 | 3 | 392 | 0.0077 | 30 | c.-68 others(49): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
| EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 392 | 0.0026 | 30 | c.-68 others(49): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
| EYA4_chr6_133236357_133537128 | 133273097 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 264 | 0.0038 | 30 | c.-65 others(47): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| EYA4_chr6_133236357_133537128 | 133273097 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0097 | 1 | 264 | 0.0038 | 30 | c.-65 others(47): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| EYS_chr6_63714980_65712226 | 64531549 | G | GTTTATTT others(23): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0003 | 1 | 24 | 0.0417 | 30 | c.564 others(51): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | ||||||
| EYS_chr6_63714980_65712226 | 64807999 | T | TTCCTTCC others(23): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG02896.hp2 others(1): Show |
a0002a0016a0018others(1): Show | a0002c0008a0016c0014a0018c0016others(1): Show | a0002c0008t0002a0016c0014t0001a0018c0016t0001others(1): Show | a0002c0008t0002g0020a0016c0014t0001g0005a0018c0016t0001g0003others(1): Show | 4 | 24 | 0.1667 | 30 | c.344 others(49): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
| EYS_chr6_63714980_65712226 | 64864385 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0012 | 1 | 24 | 0.0417 | 30 | c.299 others(51): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 19/42 | chr6 | TogoVar | ||||||
| EYS_chr6_63714980_65712226 | 65231085 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02630.hp1 HG02630.hp2 others(3): Show |
a0002a0011a0012others(3): Show | a0002c0021a0011c0001a0012c0005others(3): Show | a0002c0021t0001a0011c0001t0001a0012c0005t0001others(3): Show | a0002c0021t0001g0008a0011c0001t0001g0013a0012c0005t0001g0014others(3): Show | 6 | 24 | 0.2500 | 30 | c.202 others(51): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
| EYS_chr6_63714980_65712226 | 65278031 | C | CCTTTTCT others(23): Show |
intron_variant | MODIFIER | HG01169.hp1 HG03195.hp2 |
a0019a0021 | a0019c0023a0021c0024 | a0019c0023t0001a0021c0024t0001 | a0019c0023t0001g0010a0021c0024t0001g0001 | 2 | 24 | 0.0833 | 30 | c.202 others(51): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
| EYS_chr6_63714980_65712226 | 65447336 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0010 | a0010c0003 | a0010c0003t0001 | a0010c0003t0001g0016 | 1 | 24 | 0.0417 | 30 | c.863 others(49): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 5/42 | chr6 | TogoVar | ||||||
| EZHIP_chrX_51401948_51413843 | 51409476 | G | GGGGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG01123.hp1 others(5): Show |
a0001a0003 | a0001c0002a0001c0011a0003c0004 | a0001c0002t0001a0001c0011t0001a0003c0004t0001 | a0001c0002t0001g0000a0001c0011t0001g0000a0003c0004t0001g0000 | 8 | 295 | 0.0271 | 30 | c.*94 others(39): Show |
EZHIP | ENSG00000187690.4 | transcript | ENST00000342995.4 | protein_coding | 634 | chrX | TogoVar | ||||||
| EZHIP_chrX_51401948_51413843 | 51409476 | G | GGTGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 295 | 0.0034 | 30 | c.*94 others(39): Show |
EZHIP | ENSG00000187690.4 | transcript | ENST00000342995.4 | protein_coding | 634 | chrX | TogoVar | ||||||
| F10_chr13_113117799_113154529 | 113148345 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0335 | 1 | 412 | 0.0024 | 30 | c.866 others(45): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| F10_chr13_113117799_113154529 | 113150753 | A | AGGCAGCA others(23): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0242 | 1 | 412 | 0.0024 | 30 | c.*12 others(41): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 1225 | chr13 | TogoVar | ||||||
| F13A1_chr6_6139084_6325662 | 6210324 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | NA18964.hp1 NA18977.hp2 NA21309.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0002 | a0001c0001t0001g0052a0001c0001t0001g0063a0005c0005t0002g0146 | 3 | 292 | 0.0103 | 30 | c.111 others(51): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 8/14 | chr6 | TogoVar | ||||||
| F13A1_chr6_6139084_6325662 | 6311614 | T | TATATAAT others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(215): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0001c0021others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(214): Show | 218 | 292 | 0.7466 | 30 | c.131 others(47): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | ||||||
| F5_chr1_169506951_169591481 | 169556425 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG02896.hp1 others(3): Show |
a0003a0004a0005others(3): Show | a0003c0018a0004c0007a0005c0011others(3): Show | a0003c0018t0003a0004c0007t0003a0005c0011t0001others(3): Show | a0003c0018t0003g0026a0004c0007t0003g0022a0005c0011t0001g0020others(3): Show | 6 | 306 | 0.0196 | 30 | c.952 others(45): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 6/24 | chr1 | TogoVar | ||||||
| F7_chr13_113100791_113125685 | 113105036 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0072 | 1 | 400 | 0.0025 | 30 | c.-80 others(39): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 754 | chr13 | TogoVar | ||||||
| FAAH2_chrX_57281706_57494193 | 57306994 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02027.hp1 HG02040.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0026others(9): Show | 12 | 282 | 0.0426 | 30 | c.276 others(47): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FADS2_chr11_61823300_61872354 | 61861353 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18906.hp2 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0231a0001c0001t0001g0234 | 3 | 280 | 0.0107 | 30 | c.883 others(47): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FAF1_chr1_50432028_50965267 | 50554390 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0038 | 1 | 190 | 0.0053 | 30 | c.126 others(51): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 13/18 | chr1 | TogoVar | ||||||
| FAF1_chr1_50432028_50965267 | 50554390 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0121 | 1 | 190 | 0.0053 | 30 | c.126 others(51): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 13/18 | chr1 | TogoVar | ||||||
| FAF1_chr1_50432028_50965267 | 50554390 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0006 | 1 | 190 | 0.0053 | 30 | c.126 others(51): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 13/18 | chr1 | TogoVar | ||||||
| FAF1_chr1_50432028_50965267 | 50554390 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0120 | 1 | 190 | 0.0053 | 30 | c.126 others(51): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 13/18 | chr1 | TogoVar | ||||||
| FAF1_chr1_50432028_50965267 | 50819739 | A | ATACGTAT others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01255.hp1 HG01256.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0145a0001c0001t0002g0126a0001c0001t0002g0128others(10): Show | 13 | 190 | 0.0684 | 30 | c.115 others(49): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
| FAF1_chr1_50432028_50965267 | 50885312 | T | TCTCACAC others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0183 | 1 | 190 | 0.0053 | 30 | c.46- others(47): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
| FAH_chr15_80147999_80191349 | 80153171 | G | GGGAGTGG others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0204 | 4 | 428 | 0.0094 | 30 | c.81+ others(41): Show |
FAH | ENSG00000103876.14 | transcript | ENST00000561421.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FAM104A_chr17_73202365_73237394 | 73224960 | G | GACAGCAC others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0068a0001c0001t0001g0355a0001c0001t0001g0356others(1): Show | 4 | 400 | 0.0100 | 30 | c.321 others(47): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
| FAM104A_chr17_73202365_73237394 | 73224960 | G | GACAGGAC others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0017 | a0001c0001t0001g0017a0001c0001t0001g0175a0001c0001t0001g0177others(4): Show | 9 | 400 | 0.0225 | 30 | c.321 others(47): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
| FAM104A_chr17_73202365_73237394 | 73225899 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 400 | 0.0025 | 30 | c.321 others(47): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
| FAM104A_chr17_73202365_73237394 | 73225900 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0265 | 1 | 400 | 0.0025 | 30 | c.321 others(47): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
| FAM104A_chr17_73202365_73237394 | 73234773 | C | CTGTGTGT others(23): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 400 | 0.0025 | 30 | c.-24 others(41): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 2380 | chr17 | TogoVar | ||||||
| FAM107B_chr10_14513557_14779897 | 14572736 | A | ATTATATA others(23): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0136 | 1 | 272 | 0.0037 | 30 | c.470 others(49): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
| FAM107B_chr10_14513557_14779897 | 14572736 | A | ATTTTATA others(23): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 272 | 0.0037 | 30 | c.470 others(49): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
| FAM107B_chr10_14513557_14779897 | 14737766 | T | TTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02559.hp2 HG03942.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0084a0001c0001t0001g0135others(4): Show | 7 | 272 | 0.0257 | 30 | c.411 others(49): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| FAM107B_chr10_14513557_14779897 | 14767024 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 272 | 0.0037 | 30 | c.411 others(47): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| FAM107B_chr10_14513557_14779897 | 14767055 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 272 | 0.0037 | 30 | c.411 others(47): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| FAM107B_chr10_14513557_14779897 | 14767055 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0226 | 1 | 272 | 0.0037 | 30 | c.411 others(47): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| FAM107B_chr10_14513557_14779897 | 14767055 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01934.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0067 | 2 | 272 | 0.0074 | 30 | c.411 others(47): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| FAM110B_chr8_57989523_58153784 | 58006901 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0230a0001c0001t0006g0155 | 2 | 300 | 0.0067 | 30 | c.-51 others(51): Show |
FAM110B | ENSG00000169122.12 | transcript | ENST00000519262.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FAM110B_chr8_57989523_58153784 | 58006923 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0294 | 1 | 300 | 0.0033 | 30 | c.-51 others(51): Show |
FAM110B | ENSG00000169122.12 | transcript | ENST00000519262.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FAM110B_chr8_57989523_58153784 | 58047591 | C | CCTCTCTC others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02717.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0240a0001c0001t0003g0255a0001c0001t0007g0300 | 3 | 300 | 0.0100 | 30 | c.-41 others(51): Show |
FAM110B | ENSG00000169122.12 | transcript | ENST00000519262.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FAM114A1_chr4_38862806_38950739 | 38880095 | A | AAATAGAG others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0339 | 1 | 372 | 0.0027 | 30 | c.348 others(47): Show |
FAM114A1 | ENSG00000197712.12 | transcript | ENST00000358869.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| FAM114A1_chr4_38862806_38950739 | 38880107 | G | GTAGAATA others(23): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03834.hp1 |
a0007a0012 | a0007c0021a0012c0051 | a0007c0021t0013a0012c0051t0005 | a0007c0021t0013g0340a0012c0051t0005g0344 | 2 | 372 | 0.0054 | 30 | c.348 others(47): Show |
FAM114A1 | ENSG00000197712.12 | transcript | ENST00000358869.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| FAM120A_chr9_93446685_93571112 | 93545780 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0098a0001c0001t0003g0082 | 2 | 318 | 0.0063 | 30 | c.215 others(49): Show |
FAM120A | ENSG00000048828.18 | transcript | ENST00000277165.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170381140 | T | TTATGCTC others(23): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 289 | 0.0035 | 30 | c.228 others(49): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |