| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EYS_chr6_63714980_65712226 | 64151363 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0019 | 1 | 24 | 0.0417 | 51 | c.642 others(72): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | ||||||
| F7_chr13_113100791_113125685 | 113107769 | T | TGTGGGTG others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(202): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(113): Show | 205 | 400 | 0.5125 | 51 | c.64+ others(66): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| F7_chr13_113100791_113125685 | 113107769 | T | TGTGGGTG others(44): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 400 | 0.0025 | 51 | c.64+ others(66): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| F7_chr13_113100791_113125685 | 113108128 | A | AGGGTGTC others(44): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0072 | 1 | 400 | 0.0025 | 51 | c.64+ others(66): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| F7_chr13_113100791_113125685 | 113108143 | T | TGTGGGTG others(44): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0031 | 9 | 400 | 0.0225 | 51 | c.64+ others(66): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FAF1_chr1_50432028_50965267 | 50694004 | T | TATATACA others(44): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0023a0001c0001t0040others(2): Show | a0001c0001t0012g0002a0001c0001t0012g0007a0001c0001t0012g0011others(5): Show | 8 | 190 | 0.0421 | 51 | c.657 others(70): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 7/18 | chr1 | TogoVar | ||||||
| FAF1_chr1_50432028_50965267 | 50694004 | T | TATATACA others(44): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0020a0001c0001t0031 | a0001c0001t0010g0179a0001c0001t0010g0182a0001c0001t0010g0183others(3): Show | 6 | 190 | 0.0316 | 51 | c.657 others(70): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 7/18 | chr1 | TogoVar | ||||||
| FAH_chr15_80147999_80191349 | 80152613 | A | AGGCGGGG others(44): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 428 | 0.0023 | 51 | c.-44 others(60): Show |
FAH | ENSG00000103876.14 | transcript | ENST00000561421.6 | protein_coding | 385 | chr15 | TogoVar | ||||||
| FAIM_chr3_138603771_138638376 | 138609070 | C | CGGCGGCG others(44): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0019a0002c0005t0001g0020 | 2 | 368 | 0.0054 | 51 | c.-17 others(66): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FAIM_chr3_138603771_138638376 | 138609551 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 368 | 0.0027 | 51 | c.-17 others(66): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FAIM_chr3_138603771_138638376 | 138609555 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 368 | 0.0027 | 51 | c.-17 others(66): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FAM111B_chr11_59102237_59132412 | 59106681 | G | GCCGCCAG others(44): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01884.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0002g0003others(3): Show | 8 | 414 | 0.0193 | 51 | c.-74 others(60): Show |
FAM111B | ENSG00000189057.11 | transcript | ENST00000343597.4 | protein_coding | 555 | chr11 | TogoVar | ||||||
| FAM161B_chr14_73927276_73955094 | 73953257 | T | TCTGGGGA others(44): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0076 | 1 | 442 | 0.0023 | 51 | c.-32 others(62): Show |
FAM161B | ENSG00000156050.10 | transcript | ENST00000286544.5 | protein_coding | 3164 | chr14 | TogoVar | ||||||
| FAM174B_chr15_92612448_92660775 | 92660031 | C | CGGGGGGG others(44): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0044 | 1 | 394 | 0.0025 | 51 | c.-43 others(62): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 4257 | chr15 | TogoVar | ||||||
| FAM174C_chr19_1270530_1284228 | 1282565 | T | TGGGAGGG others(44): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 254 | 0.0039 | 51 | c.*37 others(62): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3338 | chr19 | TogoVar | ||||||
| FAM184A_chr6_118954763_119083664 | 118969993 | A | ATAAAATA others(44): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 286 | 0.0035 | 51 | c.291 others(70): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | ||||||
| FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 286 | 0.0035 | 51 | c.291 others(70): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | ||||||
| FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 286 | 0.0035 | 51 | c.291 others(70): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | ||||||
| FAM184B_chr4_17624306_17786621 | 17653919 | A | AGGGAGGG others(44): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 |
a0013a0016 | a0013c0048a0016c0025 | a0013c0048t0022a0016c0025t0021 | a0013c0048t0022g0048a0016c0025t0021g0224 | 2 | 238 | 0.0084 | 51 | c.203 others(68): Show |
FAM184B | ENSG00000047662.5 | transcript | ENST00000265018.4 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
| FAM193A_chr4_2531647_2737573 | 2617262 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 330 | 0.0030 | 51 | c.502 others(68): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| FAM193A_chr4_2531647_2737573 | 2617262 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0120 | 1 | 330 | 0.0030 | 51 | c.502 others(68): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| FAM193A_chr4_2531647_2737573 | 2617262 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0109 | 1 | 330 | 0.0030 | 51 | c.502 others(68): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| FAM240C_chr2_241888988_241905464 | 241902317 | T | TGCCGCCT others(44): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG03041.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0016a0001c0001t0001g0025a0001c0001t0001g0026others(3): Show | 6 | 37 | 0.1622 | 51 | c.-19 others(62): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1854 | chr2 | TogoVar | ||||||
| FAM72C_chr1_143950287_143976986 | 143951870 | T | TAAAAACC others(44): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 248 | 0.0040 | 51 | c.*45 others(62): Show |
FAM72C | ENSG00000263513.6 | transcript | ENST00000584486.6 | protein_coding | 3416 | chr1 | TogoVar | ||||||
| FAM9B_chrX_9019232_9039127 | 9022677 | T | TTATATTA others(44): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 258 | 0.0039 | 51 | c.*27 others(62): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1554 | chrX | TogoVar | ||||||
| FAM9B_chrX_9019232_9039127 | 9022723 | A | ATATATTA others(44): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 258 | 0.0039 | 51 | c.*26 others(62): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1508 | chrX | TogoVar | ||||||
| FANCA_chr16_89732549_89821647 | 89765284 | T | TAGGGGAC others(44): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03471.hp1 NA20129.hp1 |
a0013 | a0013c0014 | a0013c0014t0002 | a0013c0014t0002g0330a0013c0014t0002g0331a0013c0014t0002g0332 | 3 | 334 | 0.0090 | 51 | c.260 others(68): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 27/42 | chr16 | TogoVar | ||||||
| FAT1_chr4_186582794_186728856 | 186610661 | A | ATTTATAT others(44): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01257.hp2 HG01258.hp1 |
a0010 | a0010c0015 | a0010c0015t0001a0010c0015t0003 | a0010c0015t0001g0270a0010c0015t0003g0076a0010c0015t0003g0077 | 3 | 338 | 0.0089 | 51 | c.985 others(68): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | ||||||
| FBN3_chr19_8060402_8154592 | 8086120 | A | AACAGGCA others(44): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0156 | a0156c0065 | a0156c0065t0001 | a0156c0065t0001g0242 | 1 | 380 | 0.0026 | 51 | c.688 others(66): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 55/63 | chr19 | TogoVar | ||||||
| FBN3_chr19_8060402_8154592 | 8086120 | A | AACAGGCA others(44): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03041.hp1 |
a0085a0133 | a0085c0183a0133c0120 | a0085c0183t0001a0133c0120t0001 | a0085c0183t0001g0231a0133c0120t0001g0357 | 2 | 380 | 0.0053 | 51 | c.688 others(66): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 55/63 | chr19 | TogoVar | ||||||
| FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAGGAA others(44): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0003 | a0003c0207 | a0003c0207t0002 | a0003c0207t0002g0207 | 1 | 380 | 0.0026 | 51 | c.204 others(68): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | ||||||
| FBN3_chr19_8060402_8154592 | 8130639 | A | AGAAAGAA others(44): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0007 | a0007c0079 | a0007c0079t0001 | a0007c0079t0001g0072 | 1 | 380 | 0.0026 | 51 | c.204 others(68): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | ||||||
| FBN3_chr19_8060402_8154592 | 8130639 | A | AGAAAGAA others(44): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0302 | 1 | 380 | 0.0026 | 51 | c.204 others(68): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | ||||||
| FBN3_chr19_8060402_8154592 | 8130639 | A | AGAAAGGA others(44): Show |
intron_variant | MODIFIER | HG02155.hp2 HG06807.hp1 |
a0001a0061 | a0001c0002a0061c0141 | a0001c0002t0001a0061c0141t0002 | a0001c0002t0001g0118a0061c0141t0002g0353 | 2 | 380 | 0.0053 | 51 | c.204 others(68): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | ||||||
| FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 244 | 0.0041 | 51 | c.182 others(72): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
| FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18973.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0004a0001c0011t0020 | a0001c0001t0004g0169a0001c0011t0020g0227 | 2 | 244 | 0.0082 | 51 | c.182 others(72): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
| FBXO16_chr8_28423412_28495229 | 28494354 | C | CGAAGCGT others(44): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0022 | 1 | 394 | 0.0025 | 51 | c.-42 others(62): Show |
FBXO16 | ENSG00000214050.8 | transcript | ENST00000380254.7 | protein_coding | 4126 | chr8 | TogoVar | ||||||
| FBXW4_chr10_101605666_101700170 | 101607179 | G | GGGAAGAT others(44): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 210 | 0.0048 | 51 | c.*40 others(62): Show |
FBXW4 | ENSG00000107829.15 | transcript | ENST00000331272.9 | protein_coding | 3486 | chr10 | TogoVar | ||||||
| FCHSD1_chr5_141634302_141656418 | 141653574 | T | TTTTTTTT others(44): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 428 | 0.0023 | 51 | c.-22 others(62): Show |
FCHSD1 | ENSG00000197948.11 | transcript | ENST00000435817.7 | protein_coding | 2157 | chr5 | TogoVar | ||||||
| FCN1_chr9_134898232_134922912 | 134905793 | G | GCTGCTTC others(44): Show |
3_prime_UTR_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0238 | a0001c0001t0238g0116 | 1 | 434 | 0.0023 | 51 | c.*40 others(62): Show |
FCN1 | ENSG00000085265.12 | transcript | ENST00000371806.4 | protein_coding | 9/9 | 4004 | chr9 | TogoVar | |||||
| FCN1_chr9_134898232_134922912 | 134905810 | C | CTCTTCTT others(44): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0234 | a0001c0001t0234g0112 | 1 | 434 | 0.0023 | 51 | c.*39 others(62): Show |
FCN1 | ENSG00000085265.12 | transcript | ENST00000371806.4 | protein_coding | 9/9 | 3987 | chr9 | TogoVar | |||||
| FCN1_chr9_134898232_134922912 | 134905822 | T | TTCTTCTT others(44): Show |
3_prime_UTR_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0207 | a0001c0001t0207g0093 | 1 | 434 | 0.0023 | 51 | c.*39 others(62): Show |
FCN1 | ENSG00000085265.12 | transcript | ENST00000371806.4 | protein_coding | 9/9 | 3975 | chr9 | TogoVar | |||||
| FEM1B_chr15_68272745_68300862 | 68286870 | G | GTAGTGTC others(44): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 |
a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0028 | 2 | 312 | 0.0064 | 51 | c.249 others(68): Show |
FEM1B | ENSG00000169018.6 | transcript | ENST00000306917.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FER1L6_chr8_123846987_124125061 | 123855710 | C | CACACACA others(44): Show |
intron_variant | MODIFIER | HG01192.hp1 NA19043.hp1 |
a0001a0011 | a0001c0037a0011c0042 | a0001c0037t0001a0011c0042t0002 | a0001c0037t0001g0014a0011c0042t0002g0042 | 2 | 196 | 0.0102 | 51 | c.-8+ others(66): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FER1L6_chr8_123846987_124125061 | 123855710 | C | CACACACA others(44): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0027 | a0002c0027t0001 | a0002c0027t0001g0029 | 1 | 196 | 0.0051 | 51 | c.-8+ others(66): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FGD6_chr12_95071749_95222467 | 95149200 | T | TTATATAT others(44): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 384 | 0.0026 | 51 | c.268 others(70): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | ||||||
| FGFR4_chr5_177081915_177103144 | 177096878 | C | CTCCTCCT others(44): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0071 | 1 | 372 | 0.0027 | 51 | c.215 others(68): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FGGY_chr1_59292094_59767730 | 59491041 | T | TTCCTTCC others(44): Show |
intron_variant | MODIFIER | HG02074.hp2 HG04204.hp1 NA19057.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0003t0001g0145 | 3 | 166 | 0.0181 | 51 | c.671 others(70): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 6/15 | chr1 | TogoVar | ||||||
| FGGY_chr1_59292094_59767730 | 59491041 | T | TTCCTTTC others(44): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02080.hp2 HG03139.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0001a0002c0002t0001 | a0001c0001t0003g0004a0001c0003t0001g0162a0002c0002t0001g0105 | 3 | 166 | 0.0181 | 51 | c.671 others(70): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 6/15 | chr1 | TogoVar | ||||||
| FGGY_chr1_59292094_59767730 | 59491045 | T | TTCCTTTC others(44): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 166 | 0.0060 | 51 | c.671 others(70): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 6/15 | chr1 | TogoVar |