| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(805): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 336 | 0.0030 | 812 | c.361 others(831): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(805): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 336 | 0.0030 | 812 | c.361 others(831): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(805): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0195 | 2 | 336 | 0.0060 | 812 | c.361 others(831): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(805): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01070.hp2 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0017others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0017t0001others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0168others(25): Show | 29 | 336 | 0.0863 | 812 | c.361 others(831): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(805): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0136 | 1 | 336 | 0.0030 | 812 | c.361 others(831): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(805): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 336 | 0.0030 | 812 | c.361 others(831): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ABR_chr17_998519_1184981 | 1173156 | C | CCCCATCA others(805): Show |
intron_variant | MODIFIER | HG03471.hp1 HG06807.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0004t0037 | a0001c0001t0008g0019a0001c0001t0008g0020a0001c0004t0037g0017 | 3 | 337 | 0.0089 | 812 | c.61+ others(827): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ADAMTS16_chr5_5135330_5325304 | 5305263 | A | ATCCCACA others(805): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 332 | 0.0030 | 812 | c.318 others(831): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | ||||||
| ADAMTS17_chr15_99966437_100346975 | 100058248 | T | TATCCCGG others(805): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04199.hp2 |
a0002a0007 | a0002c0068a0007c0023 | a0002c0068t0013a0007c0023t0026 | a0002c0068t0013g0032a0007c0023t0026g0031 | 2 | 228 | 0.0088 | 812 | c.213 others(831): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(805): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0151 | 2 | 246 | 0.0081 | 812 | c.298 others(829): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCGTGA others(805): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 246 | 0.0041 | 812 | c.-16 others(823): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | ||||||
| ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCCG others(805): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 150 | 0.0067 | 812 | c.276 others(831): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(805): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 280 | 0.0036 | 812 | c.-14 others(827): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP10A_chr15_25673712_25868327 | 25758460 | T | TCACCTGC others(805): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0262 | 1 | 300 | 0.0033 | 812 | c.655 others(831): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTAACTC others(805): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 300 | 0.0033 | 812 | c.654 others(831): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| C1QTNF8_chr16_1083226_1101244 | 1093202 | A | AGCACACA others(805): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0145a0001c0001t0007g0009a0001c0001t0007g0074others(2): Show | 11 | 396 | 0.0278 | 812 | c.*4+ others(825): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
| C1QTNF8_chr16_1083226_1101244 | 1093202 | A | AGCACACA others(805): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0040 | 2 | 396 | 0.0051 | 812 | c.*4+ others(825): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
| C4orf19_chr4_37448925_37598510 | 37585204 | A | ATTGAGGG others(805): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0163 | 1 | 354 | 0.0028 | 812 | c.-22 others(829): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| C4orf19_chr4_37448925_37598510 | 37585380 | T | TGAGGGAG others(805): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0252 | 1 | 354 | 0.0028 | 812 | c.-22 others(829): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAA others(805): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0198 | 1 | 354 | 0.0028 | 812 | c.-22 others(829): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(805): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0220 | 3 | 354 | 0.0085 | 812 | c.-22 others(829): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(805): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0005 | a0005c0005 | a0005c0005t0000 | a0005c0005t0000g0136 | 1 | 346 | 0.0029 | 812 | c.963 others(829): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
| C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(805): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp1 |
a0012 | a0012c0017 | a0012c0017t0000 | a0012c0017t0000g0030a0012c0017t0000g0031a0012c0017t0000g0037 | 3 | 346 | 0.0087 | 812 | c.963 others(829): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
| C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(805): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp2 others(86): Show |
a0001a0002a0004others(20): Show | a0001c0001a0001c0084a0002c0002others(21): Show | a0001c0001t0000a0001c0084t0000a0002c0002t0000others(21): Show | a0001c0001t0000g0055a0001c0001t0000g0073a0001c0001t0000g0074others(85): Show | 89 | 346 | 0.2572 | 812 | c.963 others(829): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(805): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 2 | 398 | 0.0050 | 812 | c.-22 others(823): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(805): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0013 | a0013c0030 | a0013c0030t0013 | a0013c0030t0013g0251 | 1 | 338 | 0.0030 | 812 | c.300 others(829): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CAMTA1_chr1_6780454_7774706 | 6940929 | A | AGGGGGGT others(805): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 58 | 0.0172 | 812 | c.234 others(833): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | chr1 | TogoVar | ||||||
| CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(805): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 398 | 0.0025 | 812 | c.666 others(827): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC183_chr9_136791338_136812741 | 136802876 | G | GGGGGCCC others(805): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0020 | a0020c0030 | a0020c0030t0002 | a0020c0030t0002g0231 | 1 | 398 | 0.0025 | 812 | c.666 others(827): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC183_chr9_136791338_136812741 | 136803011 | T | TGGGGGCC others(805): Show |
intron_variant | MODIFIER | HG02109.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0028 | 2 | 398 | 0.0050 | 812 | c.666 others(827): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC77_chr12_396644_447642 | 421822 | A | AAAACACA others(805): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0140 | 1 | 432 | 0.0023 | 812 | c.413 others(829): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CCDC77_chr12_396644_447642 | 422145 | G | GTTCCATT others(805): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0404 | 1 | 432 | 0.0023 | 812 | c.413 others(829): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | ||||||
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(805): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0031a0001c0001t0008g0034 | 2 | 336 | 0.0060 | 812 | c.248 others(829): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CRTC3_chr15_90524923_90650345 | 90647319 | C | CCTCCTCC others(805): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 HG02293.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199a0001c0001t0001g0244a0001c0001t0001g0265 | 3 | 276 | 0.0109 | 812 | c.*51 others(823): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1975 | chr15 | TogoVar | ||||||
| FAM135B_chr8_138125023_138502261 | 138206229 | A | ACACAACT others(805): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0156 | 1 | 212 | 0.0047 | 812 | c.670 others(829): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 7/19 | chr8 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(805): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0127 | 2 | 344 | 0.0058 | 812 | c.617 others(829): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946797 | T | TACATATA others(805): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 344 | 0.0029 | 812 | c.617 others(829): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71435881 | A | AAGGGACG others(805): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0046 | 1 | 96 | 0.0104 | 812 | c.-16 others(833): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
| HRAS_chr11_527242_540576 | 531034 | G | GGAGTGTG others(805): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 397 | 0.0025 | 812 | c.*14 others(823): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1207 | chr11 | TogoVar | ||||||
| IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(805): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 376 | 0.0027 | 812 | c.666 others(829): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(805): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 376 | 0.0027 | 812 | c.666 others(829): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(805): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0237 | 1 | 323 | 0.0031 | 812 | c.-36 others(823): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(805): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 1 | 323 | 0.0031 | 812 | c.-36 others(823): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0331 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0254 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0313 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar |