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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TAFA5_chr22_48484553_48756932 | 48620650 | C | CCATCCCC others(213): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0043 | 1 | 258 | 0.0039 | 220 | c.113 others(239): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TARBP1_chr1_234386313_234484179 | 234397808 | A | AGAGGGGG others(213): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 274 | 0.0037 | 220 | c.424 others(237): Show |
TARBP1 | ENSG00000059588.10 | transcript | ENST00000040877.2 | protein_coding | 26/29 | chr1 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82785415 | A | AGCGGGAG others(213): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0298 | 1 | 318 | 0.0031 | 220 | c.771 others(237): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82846187 | T | TCCCTCCA others(213): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03139.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0008 | a0001c0001t0002g0041 a0001c0001t0002g0059 a0001c0001t0002g0076 others(1): Show |
4 | 318 | 0.0126 | 220 | c.131 others(241): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82846221 | C | CCTCGTCC others(213): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0289 | 1 | 318 | 0.0031 | 220 | c.131 others(241): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82846312 | C | CGTCCTCT others(213): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0017 | a0017c0022 | a0017c0022t0005 | a0017c0022t0005g0284 | 1 | 318 | 0.0031 | 220 | c.131 others(241): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121114637 | C | CCACCCAC others(213): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0120 | 1 | 348 | 0.0029 | 220 | c.790 others(235): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273782 | C | CACGACCG others(213): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01943.hp2 NA18964.hp1 others(2): Show |
a0001 | a0001c0003a0001c0018 | a0001c0003t0001a0001c0018t0001 | a0001c0003t0001g0268 a0001c0003t0001g0294 a0001c0003t0001g0297 others(2): Show |
5 | 392 | 0.0128 | 220 | c.228 others(239): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273782 | C | CACGACTG others(213): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18940.hp2 NA18966.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0285 a0001c0003t0001g0292 a0001c0003t0001g0293 |
3 | 392 | 0.0077 | 220 | c.228 others(239): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TGFBR3_chr1_91675343_91891151 | 91840380 | A | AATGCATG others(213): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0202 | 1 | 284 | 0.0035 | 220 | c.61+ others(237): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 2/16 | chr1 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747853 | G | GCTGGGGT others(213): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0295 | 1 | 314 | 0.0032 | 220 | c.189 others(235): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM163_chr2_134450759_134724000 | 134609315 | G | GAGGACAG others(213): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01256.hp1 HG01346.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0111 others(9): Show |
12 | 222 | 0.0541 | 220 | c.323 others(239): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
TMEM185A_chrX_149591556_149636792 | 149605308 | A | ACTTTCTA others(213): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0054 | 1 | 259 | 0.0039 | 220 | c.424 others(237): Show |
TMEM185A | ENSG00000269556.9 | transcript | ENST00000600449.8 | protein_coding | 3/6 | chrX | TogoVar | |||||||
TMEM65_chr8_124301189_124377701 | 124302741 | T | TTATATAT others(213): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0290 | 1 | 348 | 0.0029 | 220 | c.*11 others(233): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 3447 | chr8 | TogoVar | |||||||
TMEM65_chr8_124301189_124377701 | 124302741 | T | TTATATAT others(213): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 348 | 0.0029 | 220 | c.*11 others(233): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 3447 | chr8 | TogoVar | |||||||
TMEM65_chr8_124301189_124377701 | 124302741 | T | TTATATAT others(213): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0316 a0001c0001t0010g0318 |
2 | 348 | 0.0058 | 220 | c.*11 others(233): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 3447 | chr8 | TogoVar | |||||||
TMPRSS2_chr21_41459305_41513158 | 41474314 | A | AGTGAGGA others(213): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0192 | 1 | 382 | 0.0026 | 220 | c.728 others(235): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2418817 | T | TCCTTCCC others(213): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0085 | 1 | 114 | 0.0088 | 220 | c.215 others(237): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMTC1_chr12_29495840_29788942 | 29643719 | T | TATATAGA others(213): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18612.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0076a0002c0003t0012 | a0001c0001t0076g0140 a0002c0003t0012g0228 |
2 | 276 | 0.0073 | 220 | c.939 others(239): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC2_chr12_82681906_83139866 | 82997352 | A | ATATATAT others(213): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02683.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0027 a0001c0001t0002g0080 a0001c0001t0004g0081 |
3 | 96 | 0.0313 | 220 | c.207 others(241): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1422358 | C | CGCCGCGC others(213): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 130 | 0.0077 | 220 | c.95- others(233): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TPSB2_chr16_1223336_1235184 | 1231421 | C | CCCCAGCC others(213): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0026 | a0003c0026t0005 | a0003c0026t0005g0038 | 1 | 344 | 0.0029 | 220 | c.-12 others(231): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 1238 | chr16 | TogoVar | |||||||
TRAF2_chr9_136881516_136931607 | 136897801 | T | TCCGCTCT others(213): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 310 | 0.0032 | 220 | c.-28 others(235): Show |
TRAF2 | ENSG00000127191.18 | transcript | ENST00000247668.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507571 | A | ATATACAT others(213): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 388 | 0.0026 | 220 | c.-23 others(237): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152041 | A | AGAGGGGG others(213): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0061 | 1 | 228 | 0.0044 | 220 | c.*46 others(231): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4299 | chr4 | TogoVar | |||||||
TRPC4AP_chr20_34997404_35097807 | 35097556 | T | TATACACA others(213): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 334 | 0.0030 | 220 | c.-47 others(231): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4750 | chr20 | TogoVar | |||||||
TSPAN9_chr12_3072379_3291559 | 3198772 | C | CCACCACC others(213): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02109.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0016a0001c0001t0055others(1): Show | a0001c0001t0009g0125 a0001c0001t0016g0005 a0001c0001t0055g0079 others(1): Show |
4 | 288 | 0.0139 | 220 | c.-17 others(237): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028587 | G | GCCCTCGT others(213): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149 | 1 | 224 | 0.0045 | 220 | c.225 others(239): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028882 | A | AAAGACCC others(213): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 224 | 0.0045 | 220 | c.225 others(239): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
UBE4A_chr11_118354600_118404211 | 118355868 | T | TATATACA others(213): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 320 | 0.0031 | 220 | c.-38 others(231): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3731 | chr11 | TogoVar | |||||||
UBE4A_chr11_118354600_118404211 | 118355868 | T | TATATACA others(213): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 HG03239.hp2 NA19058.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0010g0194 |
4 | 320 | 0.0125 | 220 | c.-38 others(231): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3731 | chr11 | TogoVar | |||||||
UBE4A_chr11_118354600_118404211 | 118355868 | T | TATATACA others(213): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01192.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0020 | a0001c0001t0001g0003 a0001c0001t0001g0153 a0001c0001t0001g0174 others(5): Show |
8 | 320 | 0.0250 | 220 | c.-38 others(231): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3731 | chr11 | TogoVar | |||||||
UBE4A_chr11_118354600_118404211 | 118355868 | T | TATATACA others(213): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 320 | 0.0031 | 220 | c.-38 others(231): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3731 | chr11 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1373924 | G | ACACACCA others(213): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02922.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0021a0001c0003t0071 | a0001c0003t0021g0307 a0001c0003t0021g0308 a0001c0003t0021g0309 others(1): Show |
4 | 322 | 0.0124 | 220 | c.126 others(239): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | |||||||
URB2_chr1_229621247_229665200 | 229628209 | T | TATACATA others(213): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0012 | a0001c0012t0016 | a0001c0012t0016g0044 | 1 | 356 | 0.0028 | 220 | c.126 others(235): Show |
URB2 | ENSG00000135763.10 | transcript | ENST00000258243.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467378 | A | AGGGAGGG others(213): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0004 | 1 | 271 | 0.0037 | 220 | c.*99 others(229): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 869 | chrX | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844379 | G | GGAAGAGG others(213): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0014 | a0014c0037 | a0014c0037t0002 | a0014c0037t0002g0004 | 1 | 341 | 0.0029 | 220 | c.*36 others(229): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 237 | chrX | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159102102 | T | TGGTCTCA others(213): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0018 | 1 | 336 | 0.0030 | 220 | c.357 others(237): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CGATAGAT others(213): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 408 | 0.0025 | 220 | c.53+ others(235): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100462913 | C | CTGCTCCT others(213): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 228 | 0.0044 | 220 | c.823 others(237): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 2/6 | chr14 | TogoVar | |||||||
WDR87_chr19_37879823_37911594 | 37881047 | A | ATATATAA others(213): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 330 | 0.0030 | 220 | c.*38 others(231): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3775 | chr19 | TogoVar | |||||||
WDR87_chr19_37879823_37911594 | 37881047 | A | ATATATAT others(213): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 330 | 0.0030 | 220 | c.*38 others(231): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3775 | chr19 | TogoVar | |||||||
XYLT1_chr16_17096769_17475960 | 17470921 | C | CCGCCGCC others(213): Show |
5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG01975.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0062 | a0001c0001t0018g0103 a0001c0001t0018g0105 a0001c0002t0062g0104 |
3 | 156 | 0.0192 | 220 | c.-12 others(229): Show |
XYLT1 | ENSG00000103489.12 | transcript | ENST00000261381.7 | protein_coding | 1/12 | 126 | chr16 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292545 | G | GAGTCAGC others(213): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 404 | 0.0025 | 220 | c.339 others(237): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292545 | G | GAGTCAGC others(213): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 404 | 0.0025 | 220 | c.339 others(237): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292989 | G | GAGTCAGC others(213): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | 404 | 0.0050 | 220 | c.339 others(237): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46293000 | A | ACAAGTTA others(213): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 | 1 | 404 | 0.0025 | 220 | c.339 others(237): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293063 | G | GAATCAGC others(213): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 a0001c0001t0003g0236 |
2 | 404 | 0.0050 | 220 | c.339 others(237): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46293120 | G | GTGCCCGG others(213): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0379 | 1 | 404 | 0.0025 | 220 | c.339 others(237): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293370 | G | GCAAGTTA others(213): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19000.hp1 NA19012.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0259 a0001c0001t0002g0352 |
4 | 404 | 0.0099 | 220 | c.339 others(237): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |