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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANO2_chr12_5557655_5950259 | 5931572 | C | CAGACCAG others(725): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02257.hp2 others(6): Show |
a0001a0002a0011 | a0001c0001a0001c0016a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0016t0002others(3): Show | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0002g0152others(6): Show | 9 | 162 | 0.0556 | 732 | c.23- others(747): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGAAG others(725): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 242 | 0.0041 | 732 | c.927 others(749): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(725): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0070 | 1 | 242 | 0.0041 | 732 | c.927 others(749): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144531174 | T | TGAAGGGC others(725): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 246 | 0.0041 | 732 | c.298 others(749): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(725): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 HG02273.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 2 | 300 | 0.0067 | 732 | c.-70 others(741): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004363 | A | ATGGTGAC others(725): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02896.hp1 others(5): Show |
a0017a0039a0069others(1): Show | a0017c0020a0039c0037a0069c0071others(1): Show | a0017c0020t0000a0039c0037t0000a0069c0071t0000others(1): Show | a0017c0020t0000g0001a0017c0020t0000g0068a0017c0020t0000g0069others(4): Show | 8 | 346 | 0.0231 | 732 | c.963 others(749): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531174 | T | TGAAGGGC others(725): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 398 | 0.0025 | 732 | c.-22 others(743): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2064 | chr8 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(725): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 398 | 0.0025 | 732 | c.-22 others(743): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(725): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 398 | 0.0025 | 732 | c.-22 others(743): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(725): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18747.hp1 NA19004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0281 | 5 | 376 | 0.0133 | 732 | c.63+ others(745): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185647 | G | GGCATGTG others(725): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 338 | 0.0030 | 732 | c.300 others(749): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(725): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0007 | a0007c0005 | a0007c0005t0008 | a0007c0005t0008g0272 | 1 | 338 | 0.0030 | 732 | c.300 others(749): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(725): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0006 | a0006c0007 | a0006c0007t0014 | a0006c0007t0014g0018 | 1 | 58 | 0.0172 | 732 | c.234 others(753): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CCDC110_chr4_185440182_185476733 | 185471202 | G | GGGGGCGG others(725): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02630.hp1 HG03486.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0015a0003c0003t0002g0085 | 3 | 428 | 0.0070 | 732 | c.11- others(745): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(725): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0030 | 1 | 168 | 0.0060 | 732 | c.-26 others(741): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(725): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0024 | 1 | 168 | 0.0060 | 732 | c.-26 others(741): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(725): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 168 | 0.0060 | 732 | c.-26 others(741): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(725): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 168 | 0.0060 | 732 | c.-26 others(741): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2705509 | A | ATATATAA others(725): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0008 | a0008c0026 | a0008c0026t0017 | a0008c0026t0017g0047 | 1 | 116 | 0.0086 | 732 | c.56- others(749): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(725): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0108 | a0002c0108t0001 | a0002c0108t0001g0251 | 1 | 344 | 0.0029 | 732 | c.85- others(749): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(725): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18983.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0003a0001c0016t0012 | a0001c0001t0003g0146a0001c0016t0012g0021 | 2 | 272 | 0.0074 | 732 | c.925 others(747): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CRLF3_chr17_30777684_30829692 | 30792921 | C | CTGAGGCG others(725): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18986.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0270a0004c0007t0001g0247 | 2 | 324 | 0.0062 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 NA18906.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0116a0002c0003t0003g0121a0002c0003t0003g0135 | 3 | 324 | 0.0093 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp1 others(26): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0011 | a0002c0003t0003g0004a0002c0003t0003g0113a0002c0003t0003g0119others(25): Show | 29 | 324 | 0.0895 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0011 | 1 | 324 | 0.0031 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03486.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0088a0001c0001t0001g0304others(1): Show | 4 | 324 | 0.0124 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 324 | 0.0031 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 324 | 0.0031 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0082others(79): Show | 84 | 324 | 0.2593 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0236 | 3 | 324 | 0.0093 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 324 | 0.0031 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp2 others(42): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008a0001c0002t0014others(1): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0013others(40): Show | 45 | 324 | 0.1389 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(725): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18939.hp1 NA18947.hp1 others(6): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0002a0003c0005t0002 | a0001c0002t0002g0010a0001c0002t0002g0054a0001c0002t0002g0055others(6): Show | 9 | 324 | 0.0278 | 732 | c.827 others(747): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924879 | C | CCCCCCAC others(725): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0253 | 1 | 350 | 0.0029 | 732 | c.489 others(747): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(725): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0019 | a0019c0049 | a0019c0049t0002 | a0019c0049t0002g0144 | 1 | 252 | 0.0040 | 732 | c.118 others(751): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400827 | T | TCACCACC others(725): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0001 | a0003c0001t0016 | a0003c0001t0016g0157 | 1 | 256 | 0.0039 | 732 | c.323 others(751): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63486886 | A | ACCTGCCC others(725): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 374 | 0.0027 | 732 | c.*14 others(743): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1127 | chr20 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928123 | A | AGGTGGTG others(725): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0251 | 1 | 288 | 0.0035 | 732 | c.190 others(751): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97610688 | T | TAATAAAA others(725): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0070 | 1 | 82 | 0.0122 | 732 | c.251 others(747): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EXPH5_chr11_108500435_108598768 | 108586574 | C | CCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0032 | 1 | 314 | 0.0032 | 732 | c.119 others(749): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(725): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0024 | 1 | 418 | 0.0024 | 732 | c.119 others(751): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAT others(725): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0035 | 1 | 308 | 0.0033 | 732 | c.157 others(747): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586451 | G | GGGGGGGA others(725): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0291 | 1 | 308 | 0.0033 | 732 | c.157 others(749): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586453 | G | GGGGGAAA others(725): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0141 | 1 | 308 | 0.0033 | 732 | c.157 others(749): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(37): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0035others(35): Show | 40 | 230 | 0.1739 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 230 | 0.0044 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0010 | 1 | 230 | 0.0044 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0106 | 1 | 230 | 0.0044 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0216 | 1 | 230 | 0.0044 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 230 | 0.0044 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar |