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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRDN_chr6_123211339_123641950 | 123326482 | T | TTAAAATA others(803): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02735.hp1 HG02818.hp2 others(1): Show |
a0006a0010a0012others(1): Show | a0006c0009a0010c0012a0012c0013others(1): Show | a0006c0009t0002a0010c0012t0001a0012c0013t0002others(1): Show | a0006c0009t0002g0111a0010c0012t0001g0119a0012c0013t0002g0069others(1): Show | 4 | 152 | 0.0263 | 810 | c.147 others(829): Show |
TRDN | ENSG00000186439.15 | transcript | ENST00000334268.9 | protein_coding | 23/40 | chr6 | TogoVar | ||||||
TRDN_chr6_123211339_123641950 | 123326482 | T | TTAAAATA others(803): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0004 | a0004c0007 | a0004c0007t0010 | a0004c0007t0010g0145 | 1 | 152 | 0.0066 | 810 | c.147 others(829): Show |
TRDN | ENSG00000186439.15 | transcript | ENST00000334268.9 | protein_coding | 23/40 | chr6 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273308 | T | TTATATAT others(803): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0052 | 2 | 272 | 0.0074 | 810 | c.*28 others(821): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2195 | chr11 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(803): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 338 | 0.0030 | 810 | c.*35 others(829): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(803): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0246 | 1 | 344 | 0.0029 | 810 | c.218 others(827): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UMAD1_chr7_7635752_7884223 | 7679038 | T | TATAAATA others(803): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0165 | 1 | 250 | 0.0040 | 810 | c.82+ others(825): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZNF627_chr19_11592483_11624161 | 11613118 | C | CCCCTCCG others(803): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0005 | a0005c0008 | a0005c0008t0012 | a0005c0008t0012g0212 | 1 | 322 | 0.0031 | 810 | c.4-1 others(823): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(804): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0217 | 1 | 336 | 0.0030 | 811 | c.361 others(830): 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(804): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02523.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197a0001c0001t0001g0206a0001c0001t0001g0207others(1): Show | 4 | 336 | 0.0119 | 811 | c.361 others(830): 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(804): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00735.hp2 others(46): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0036others(7): Show | a0001c0001t0001a0001c0005t0001a0001c0036t0001others(7): Show | a0001c0001t0001g0141a0001c0001t0001g0147a0001c0001t0001g0148others(44): Show | 49 | 336 | 0.1458 | 811 | c.361 others(830): 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(804): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18984.hp1 NA18993.hp2 |
a0001a0027 | a0001c0001a0027c0025 | a0001c0001t0001a0027c0025t0001 | a0001c0001t0001g0160a0001c0001t0001g0180a0027c0025t0001g0156 | 3 | 336 | 0.0089 | 811 | c.361 others(830): 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(804): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0326 | 1 | 336 | 0.0030 | 811 | c.361 others(830): 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(804): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0161 | 1 | 336 | 0.0030 | 811 | c.361 others(830): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1119316 | C | CTCCCCAG others(804): Show |
intron_variant | MODIFIER | HG02683.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0090 | a0001c0001t0001g0065a0001c0001t0090g0301 | 2 | 337 | 0.0059 | 811 | c.246 others(828): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173281 | C | CCCACCCA others(804): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 337 | 0.0030 | 811 | c.61+ others(826): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(804): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 4 | 416 | 0.0096 | 811 | c.*10 others(824): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(804): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 NA18948.hp2 NA18955.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0031a0001c0001t0033 | a0001c0001t0005g0000a0001c0001t0031g0000a0001c0001t0033g0000 | 10 | 416 | 0.0240 | 811 | c.*10 others(824): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(804): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0070 | a0001c0001t0007g0000a0001c0001t0070g0000 | 2 | 416 | 0.0048 | 811 | c.*10 others(824): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687298 | A | ACCCCCGT others(804): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 246 | 0.0041 | 811 | c.-16 others(822): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1453 | chr8 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(804): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0142 | 1 | 242 | 0.0041 | 811 | c.266 others(828): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(804): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 398 | 0.0025 | 811 | c.666 others(826): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(804): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 398 | 0.0025 | 811 | c.666 others(826): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803280 | G | GCCGGGGG others(804): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 398 | 0.0025 | 811 | c.666 others(826): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(804): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 322 | 0.0031 | 811 | c.165 others(828): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(804): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 336 | 0.0030 | 811 | c.248 others(828): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(804): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025 | 1 | 204 | 0.0049 | 811 | c.223 others(832): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGTGG others(804): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0127 | 1 | 168 | 0.0060 | 811 | c.-26 others(820): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(804): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 370 | 0.0027 | 811 | c.891 others(828): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978270 | T | TTTATATA others(804): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0082 | 1 | 94 | 0.0106 | 811 | c.-2+ others(828): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978292 | T | TTTATATA others(804): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 94 | 0.0106 | 811 | c.-2+ others(828): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251238 | C | CCCCACAC others(804): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 116 | 0.0086 | 811 | c.207 others(830): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EIPR1_chr2_3183970_3382818 | 3316062 | C | CTACCACC others(804): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 250 | 0.0040 | 811 | c.259 others(830): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(804): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0177 | 1 | 374 | 0.0027 | 811 | c.-51 others(822): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(804): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 344 | 0.0029 | 811 | c.617 others(828): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(804): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 344 | 0.0029 | 811 | c.617 others(828): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(804): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 344 | 0.0029 | 811 | c.617 others(828): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(804): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 344 | 0.0029 | 811 | c.617 others(828): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(804): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01346.hp2 HG01358.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0047a0001c0001t0001g0048others(30): Show | 33 | 344 | 0.0959 | 811 | c.617 others(828): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(804): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0278 | 2 | 344 | 0.0058 | 811 | c.617 others(828): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(804): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 344 | 0.0029 | 811 | c.617 others(828): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(804): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 344 | 0.0029 | 811 | c.617 others(828): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(804): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 344 | 0.0029 | 811 | c.617 others(828): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180635750 | T | TGGGTGGA others(804): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03486.hp1 |
a0001a0005 | a0001c0001a0005c0018 | a0001c0001t0002a0005c0018t0011 | a0001c0001t0002g0297a0005c0018t0011g0041 | 2 | 388 | 0.0052 | 811 | c.59- others(826): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48835074 | T | TGCTGGGA others(804): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0350 | 1 | 394 | 0.0025 | 811 | c.128 others(826): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(804): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0330 | 1 | 334 | 0.0030 | 811 | c.369 others(828): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(804): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0050 | a0001c0050t0002 | a0001c0050t0002g0328 | 1 | 334 | 0.0030 | 811 | c.369 others(828): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(804): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 334 | 0.0030 | 811 | c.369 others(828): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(804): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 |
a0013 | a0013c0022 | a0013c0022t0002 | a0013c0022t0002g0227a0013c0022t0002g0230 | 2 | 334 | 0.0060 | 811 | c.369 others(828): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(804): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG01255.hp1 others(25): Show |
a0001a0004a0005 | a0001c0001a0001c0010a0001c0045others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0010t0004others(8): Show | a0001c0001t0002g0169a0001c0001t0002g0178a0001c0001t0002g0184others(25): Show | 28 | 334 | 0.0838 | 811 | c.369 others(828): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(804): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 334 | 0.0030 | 811 | c.369 others(828): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar |