view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TUBGCP5_chr15_22994177_23044569 | 23041508 | A | AGAGGTGC others(774): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 350 | 0.0029 | 781 | c.-19 others(792): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1940 | chr15 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917246 | G | GGCTCGGA others(774): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0185 | 1 | 338 | 0.0030 | 781 | c.218 others(798): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZSWIM7_chr17_15971560_16004704 | 15992813 | C | CAATTGAG others(774): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 342 | 0.0029 | 781 | c.98+ others(794): Show |
ZSWIM7 | ENSG00000214941.8 | transcript | ENST00000399277.6 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1159367 | G | GGAGAAGT others(775): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0017a0001c0006t0047 | a0001c0003t0017g0119 a0001c0006t0047g0228 |
2 | 281 | 0.0071 | 782 | c.61+ others(799): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(775): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01243.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0043 | a0001c0002t0001g0092 a0001c0002t0043g0177 a0001c0002t0043g0197 |
3 | 19 | 0.1579 | 782 | c.-47 others(801): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 415307 | G | GTGGGAGG others(775): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0079 | 1 | 265 | 0.0038 | 782 | c.441 others(799): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 415440 | C | CTGCTGGG others(775): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0004 | a0004c0003 | a0004c0003t0007 | a0004c0003t0007g0241 | 1 | 192 | 0.0052 | 782 | c.441 others(799): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(775): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0070 | 1 | 3 | 0.3333 | 782 | c.787 others(797): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3037056 | T | TTATATAT others(775): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0015 | a0001c0015t0006 | a0001c0015t0006g0021 | 1 | 167 | 0.0060 | 782 | c.-46 others(793): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4414 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3037056 | T | TTATATAT others(775): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0186 | 1 | 218 | 0.0046 | 782 | c.*36 others(793): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2946 | chrX | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(775): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 8 | 0.1250 | 782 | c.-70 others(791): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
C1QTNF8_chr16_1083226_1101244 | 1093202 | A | AGCACACA others(775): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | 3 | 338 | 0.0089 | 782 | c.*4+ others(795): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004599 | A | ATGATGGT others(775): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0093 | 1 | 196 | 0.0051 | 782 | c.963 others(799): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004599 | A | ATGATGGT others(775): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0102 | a0102c0112 | a0102c0112t0001 | a0102c0112t0001g0015 | 1 | 196 | 0.0051 | 782 | c.963 others(799): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCGGCGTG others(775): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0132 | a0003c0132t0028 | a0003c0132t0028g0277 | 1 | 308 | 0.0032 | 782 | c.300 others(799): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH3_chr16_68640310_68705292 | 68641956 | T | TTGCACTC others(775): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01891.hp2 HG02145.hp1 others(11): Show |
a0001 | a0001c0003a0001c0004a0001c0007 | a0001c0003t0001a0001c0004t0006a0001c0007t0005 | a0001c0003t0001g0282 a0001c0004t0006g0007 a0001c0004t0006g0008 others(9): Show |
14 | 248 | 0.0565 | 782 | c.-34 others(793): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 3353 | chr16 | TogoVar | |||||||
CDH3_chr16_68640310_68705292 | 68641956 | T | TTGCACTC others(775): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG03688.hp2 NA19090.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0016a0002c0002t0021 | a0001c0001t0003g0233 a0001c0001t0016g0290 a0002c0002t0021g0281 |
3 | 237 | 0.0127 | 782 | c.-34 others(793): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 3353 | chr16 | TogoVar | |||||||
CDH3_chr16_68640310_68705292 | 68641956 | T | TTGCACTC others(775): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0251 a0001c0001t0003g0259 a0001c0001t0003g0263 others(6): Show |
9 | 243 | 0.0370 | 782 | c.-34 others(793): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 3353 | chr16 | TogoVar | |||||||
CDH3_chr16_68640310_68705292 | 68641956 | T | TTGCACTC others(775): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0250 | 1 | 235 | 0.0043 | 782 | c.-34 others(793): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 3353 | chr16 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(775): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 8 | 0.1250 | 782 | c.*69 others(793): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(775): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 42 | 0.0238 | 782 | c.844 others(799): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924959 | A | ACCCAGTC others(775): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0257 | 1 | 232 | 0.0043 | 782 | c.489 others(797): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79684967 | T | TGCGGTGC others(775): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0083 | 1 | 367 | 0.0027 | 782 | c.314 others(799): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTSS_chr1_150725188_150770778 | 150744362 | A | ATTATATA others(775): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 339 | 0.0029 | 782 | c.896 others(799): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(775): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0005 | 1 | 83 | 0.0120 | 782 | c.724 others(801): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1164157 | C | CCCCCCAG others(775): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 35 | 0.0286 | 782 | c.74- others(799): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619063 | C | CCCCCCCG others(775): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 233 | 0.0043 | 782 | c.-10 others(801): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EGFL7_chr9_136657916_136677678 | 136675317 | C | CAGGGGGC others(775): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 265 | 0.0038 | 782 | c.*30 others(793): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2640 | chr9 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946669 | T | TATATATA others(775): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02965.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0271 |
3 | 219 | 0.0137 | 782 | c.617 others(799): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(775): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0083 a0001c0001t0001g0088 |
3 | 14 | 0.2143 | 782 | c.617 others(799): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(775): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 5 | 0.2000 | 782 | c.278 others(801): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(775): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 5 | 0.2000 | 782 | c.278 others(801): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CGGGGGGG others(775): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0110 | 1 | 242 | 0.0041 | 782 | c.157 others(797): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(775): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0029 | 1 | 215 | 0.0047 | 782 | c.157 others(797): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586450 | C | CAGGGGGG others(775): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0143 | 1 | 218 | 0.0046 | 782 | c.157 others(799): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927344 | G | GTCCGCAC others(775): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0248 | 1 | 366 | 0.0027 | 782 | c.145 others(799): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(775): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 95 | 0.0105 | 782 | c.-97 others(799): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46635113 | A | AGCCACTC others(775): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0312 | 1 | 267 | 0.0037 | 782 | c.163 others(799): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46635187 | C | CTCCCTGC others(775): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03516.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 a0001c0001t0008g0014 a0001c0001t0008g0015 |
3 | 308 | 0.0097 | 782 | c.163 others(799): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256763 | A | ATATATAG others(775): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 409 | 0.0024 | 782 | c.-29 others(793): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2923 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256763 | A | ATATATAG others(775): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 409 | 0.0024 | 782 | c.-29 others(793): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2923 | chr1 | TogoVar | |||||||
MADCAM1_chr19_491486_510343 | 491800 | C | CCCCCTCC others(775): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0005 | a0005c0003 | a0005c0003t0002 | a0005c0003t0002g0047 | 1 | 362 | 0.0028 | 782 | c.-47 others(793): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 4685 | chr19 | TogoVar | |||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(775): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG02809.hp1 others(14): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0001a0005c0005t0003 | a0001c0001t0001g0147 a0003c0003t0001g0016 a0003c0003t0001g0026 others(14): Show |
17 | 63 | 0.2698 | 782 | c.483 others(797): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(775): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0269 | 1 | 8 | 0.1250 | 782 | c.250 others(797): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(775): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0005 | a0003c0005t0014 | a0003c0005t0014g0264 | 1 | 8 | 0.1250 | 782 | c.250 others(797): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(775): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0249 | 1 | 32 | 0.0313 | 782 | c.241 others(801): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(775): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0105 | 1 | 32 | 0.0313 | 782 | c.241 others(801): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(775): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0122 | 1 | 32 | 0.0313 | 782 | c.241 others(801): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(775): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0103 | 1 | 32 | 0.0313 | 782 | c.241 others(801): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(775): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02976.hp2 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0233 a0004c0004t0003g0237 |
2 | 5 | 0.4000 | 782 | c.160 others(799): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar |