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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3372): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 40 | 0.0250 | 3379 | c.*14 others(3390): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3372): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 264 | 0.0038 | 3379 | c.400 others(3398): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(3372): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 204 | 0.0049 | 3379 | c.978 others(3396): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(3372): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0098 | 1 | 266 | 0.0038 | 3379 | c.-34 others(3394): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(3372): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 314 | 0.0032 | 3379 | c.189 others(3396): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGCG others(3372): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 356 | 0.0028 | 3379 | c.114 others(3396): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
CDK11B_chr1_1630225_1664004 | 1643216 | T | TTAAAAAC others(3373): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148a0001c0001t0004g0149 | 2 | 446 | 0.0045 | 3380 | c.632 others(3395): Show |
CDK11B | ENSG00000248333.9 | transcript | ENST00000341832.11 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3373): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 175 | 0.0057 | 3380 | c.164 others(3399): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3373): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0028 | a0028c0055 | a0028c0055t0001 | a0028c0055t0001g0034 | 1 | 186 | 0.0054 | 3380 | c.723 others(3397): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(3373): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 290 | 0.0035 | 3380 | c.129 others(3399): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811231 | T | TCCCTCTC others(3373): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0157 | 1 | 178 | 0.0056 | 3380 | c.773 others(3395): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3373): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 356 | 0.0028 | 3380 | c.114 others(3397): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3373): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 356 | 0.0028 | 3380 | c.114 others(3397): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(3373): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0140 | 1 | 167 | 0.0060 | 3380 | c.*53 others(3391): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3374): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 216 | 0.0046 | 3381 | c.-51 others(3400): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(3374): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 373 | 0.0027 | 3381 | c.115 others(3398): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3374): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 356 | 0.0028 | 3381 | c.114 others(3398): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3374): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0190 | 1 | 330 | 0.0030 | 3381 | c.227 others(3398): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3374): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0189 | 1 | 330 | 0.0030 | 3381 | c.227 others(3398): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3374): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0174 | 1 | 330 | 0.0030 | 3381 | c.227 others(3398): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(3375): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0124a0002c0002t0002g0125 | 2 | 292 | 0.0069 | 3382 | c.228 others(3399): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3375): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0106 | 1 | 292 | 0.0034 | 3382 | c.228 others(3399): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(3375): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp2 |
a0001a0002 | a0001c0009a0002c0003 | a0001c0009t0002a0002c0003t0003 | a0001c0009t0002g0134a0002c0003t0003g0096 | 2 | 369 | 0.0054 | 3382 | c.-50 others(3393): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3375): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0098 | 1 | 369 | 0.0027 | 3382 | c.-50 others(3393): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602360 | T | TCTCCTGC others(3375): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0359 | 1 | 408 | 0.0025 | 3382 | c.633 others(3399): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYOM1_chr18_3061807_3224968 | 3113693 | A | ACTGTTAA others(3375): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0043 | a0004c0043t0003 | a0004c0043t0003g0212 | 1 | 330 | 0.0030 | 3382 | c.330 others(3401): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 21/37 | chr18 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3376): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 356 | 0.0028 | 3383 | c.114 others(3400): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3376): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0175 | 1 | 330 | 0.0030 | 3383 | c.227 others(3400): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3377): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0124 | 1 | 298 | 0.0034 | 3384 | c.126 others(3401): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ENTPD2_chr9_137043107_137059061 | 137050244 | C | CCACGACA others(3377): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0167 | 1 | 400 | 0.0025 | 3384 | c.102 others(3399): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050244 | C | CCACGACA others(3377): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0171 | 1 | 400 | 0.0025 | 3384 | c.102 others(3399): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050244 | C | CCACGACA others(3377): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0166 | 1 | 400 | 0.0025 | 3384 | c.102 others(3399): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050244 | C | CCACGACA others(3377): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0168 | 1 | 400 | 0.0025 | 3384 | c.102 others(3399): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050244 | C | CCACGACA others(3377): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0170 | 1 | 400 | 0.0025 | 3384 | c.102 others(3399): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050244 | C | CCACGACA others(3377): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0165 | 1 | 400 | 0.0025 | 3384 | c.102 others(3399): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(3377): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 346 | 0.0029 | 3384 | c.-76 others(3401): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3377): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0070 | a0070c0079 | a0070c0079t0001 | a0070c0079t0001g0053 | 1 | 186 | 0.0054 | 3384 | c.723 others(3401): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050244 | C | CCACGACA others(3377): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 3384 | c.-42 others(3395): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4068 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050244 | C | CCACGACA others(3377): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 3384 | c.-42 others(3395): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4068 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050244 | C | CCACGACA others(3377): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 402 | 0.0025 | 3384 | c.-42 others(3395): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4068 | chr9 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3377): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0010 | a0010c0080 | a0010c0080t0004 | a0010c0080t0004g0166 | 1 | 282 | 0.0036 | 3384 | c.299 others(3399): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3377): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0004 | a0003c0004t0029 | a0003c0004t0029g0192 | 1 | 250 | 0.0040 | 3384 | c.-21 others(3401): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3377): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 356 | 0.0028 | 3384 | c.114 others(3401): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(3378): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0022 | a0022c0055 | a0022c0055t0004 | a0022c0055t0004g0225 | 1 | 262 | 0.0038 | 3385 | c.106 others(3404): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952186 | G | GGTCAGAG others(3378): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 242 | 0.0041 | 3385 | c.360 others(3404): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(3379): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0128 | 1 | 292 | 0.0034 | 3386 | c.228 others(3403): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(3379): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0106 | 1 | 369 | 0.0027 | 3386 | c.-50 others(3397): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3379): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 | 1 | 268 | 0.0037 | 3386 | c.139 others(3407): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3379): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01261.hp1 HG02071.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0008a0001c0001t0002g0088a0001c0001t0002g0112others(17): Show | 20 | 268 | 0.0746 | 3386 | c.139 others(3407): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3379): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0033 | 1 | 268 | 0.0037 | 3386 | c.139 others(3407): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |