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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM52_chr1_1912591_1924279 | 1924194 | A | AGCTCACC others(93): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 364 | 0.0028 | 100 | c.-50 others(111): Show |
TMEM52 | ENSG00000178821.13 | transcript | ENST00000310991.8 | protein_coding | 4916 | chr1 | TogoVar | ||||||
TMPRSS12_chr12_50837926_50892884 | 50872817 | G | GTATATAT others(93): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 390 | 0.0026 | 100 | c.653 others(119): Show |
TMPRSS12 | ENSG00000186452.11 | transcript | ENST00000398458.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCCCCTC others(93): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0020 | a0020c0021 | a0020c0021t0003 | a0020c0021t0003g0099 | 1 | 114 | 0.0088 | 100 | c.-25 others(119): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TMPRSS9_chr19_2355265_2431261 | 2418906 | T | TCCCTCCA others(93): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 114 | 0.0088 | 100 | c.215 others(117): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
TNS1_chr2_217794791_218007995 | 217990265 | T | TACATCAT others(93): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02486.hp2 NA19043.hp1 |
a0002a0017 | a0002c0113a0017c0026 | a0002c0113t0061a0017c0026t0031 | a0002c0113t0061g0220a0017c0026t0031g0218a0017c0026t0031g0219 | 3 | 244 | 0.0123 | 100 | c.148 others(115): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 2/32 | chr2 | TogoVar | ||||||
TPCN2_chr11_69043932_69095597 | 69077371 | C | CTGCCCTC others(93): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02630.hp1 others(7): Show |
a0004a0010 | a0004c0008a0010c0014 | a0004c0008t0004a0004c0008t0013a0004c0008t0017others(2): Show | a0004c0008t0004g0105a0004c0008t0013g0194a0004c0008t0013g0196others(7): Show | 10 | 404 | 0.0248 | 100 | c.123 others(119): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TPCN2_chr11_69043932_69095597 | 69077371 | C | CTGCCCTC others(93): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(82): Show |
a0002a0012a0015others(2): Show | a0002c0002a0002c0018a0002c0019others(6): Show | a0002c0002t0001a0002c0002t0023a0002c0002t0026others(13): Show | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0005others(61): Show | 85 | 404 | 0.2104 | 100 | c.123 others(119): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TPD52L1_chr6_125148773_125269407 | 125172552 | A | ATATATAC others(93): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 320 | 0.0031 | 100 | c.19+ others(117): Show |
TPD52L1 | ENSG00000111907.21 | transcript | ENST00000534000.6 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
TPGS1_chr19_502497_524654 | 523158 | A | AGTGAGCA others(93): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 344 | 0.0029 | 100 | c.*37 others(111): Show |
TPGS1 | ENSG00000141933.9 | transcript | ENST00000359315.6 | protein_coding | 3505 | chr19 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1489933 | A | AGGAGTCG others(93): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0019 | a0019c0024 | a0019c0024t0005 | a0019c0024t0005g0009 | 1 | 130 | 0.0077 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1489946 | G | GAGCAGTG others(93): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0006 | a0006c0013 | a0006c0013t0012 | a0006c0013t0012g0067 | 1 | 130 | 0.0077 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1489946 | G | GAGCAGTG others(93): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0008 | a0008c0011 | a0008c0011t0015 | a0008c0011t0015g0120 | 1 | 130 | 0.0077 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1489968 | T | TGGGTCCC others(93): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG02257.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0040a0001c0001t0001g0070a0001c0001t0003g0128others(3): Show | 6 | 130 | 0.0462 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490040 | G | GCGACACA others(93): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02132.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0026a0001c0004t0001g0110 | 2 | 130 | 0.0154 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490083 | G | GGGAGTCA others(93): Show |
intron_variant | MODIFIER | HG02602.hp1 homoSapiens_chm13v2.hp1 |
a0004 | a0004c0005a0004c0007 | a0004c0005t0002a0004c0007t0004 | a0004c0005t0002g0083a0004c0007t0004g0116 | 2 | 130 | 0.0154 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490127 | C | CACAGGGG others(93): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0017 | 1 | 130 | 0.0077 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490183 | G | GGGAGTCA others(93): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0072 | 1 | 130 | 0.0077 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490218 | A | AGGGTCCC others(93): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0113 | 1 | 130 | 0.0077 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490218 | A | AGGGTCCC others(93): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0062 | 1 | 130 | 0.0077 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490218 | A | AGGGTCCC others(93): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0104 | 1 | 130 | 0.0077 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490261 | T | TGCCACGT others(93): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 130 | 0.0077 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490311 | C | CGCCACGT others(93): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0060 | 1 | 130 | 0.0077 | 100 | c.176 others(119): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPR_chr1_186306652_186380253 | 186327266 | A | ATATTTAT others(93): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18997.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0242a0003c0003t0001g0175 | 2 | 408 | 0.0049 | 100 | c.588 others(117): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 40/50 | chr1 | TogoVar | ||||||
TRANK1_chr3_36821819_36950054 | 36879771 | A | AATATACA others(93): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0170 | 1 | 330 | 0.0030 | 100 | c.908 others(117): Show |
TRANK1 | ENSG00000168016.15 | transcript | ENST00000645898.2 | protein_coding | 8/23 | chr3 | TogoVar | ||||||
TRAPPC9_chr8_139722725_140462744 | 140156961 | T | TTTCCATT others(93): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0002 | 1 | 98 | 0.0102 | 100 | c.255 others(121): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | ||||||
TRDN_chr6_123211339_123641950 | 123603161 | G | GTGTGCTA others(93): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19030.hp1 |
a0003a0007 | a0003c0003a0007c0008 | a0003c0003t0015a0007c0008t0002 | a0003c0003t0015g0019a0007c0008t0002g0137 | 2 | 152 | 0.0132 | 100 | c.23- others(117): Show |
TRDN | ENSG00000186439.15 | transcript | ENST00000334268.9 | protein_coding | 1/40 | chr6 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273206 | A | ATATATAT others(93): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 272 | 0.0110 | 100 | c.*27 others(111): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2093 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273206 | A | ATATATAT others(93): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 HG01975.hp2 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0039 | 3 | 272 | 0.0110 | 100 | c.*27 others(111): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2093 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273241 | T | TAAATTAT others(93): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 272 | 0.0037 | 100 | c.*28 others(111): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2128 | chr11 | TogoVar | ||||||
TRIML1_chr4_188134441_188152743 | 188151823 | T | TGAGAGAG others(93): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0165 | 1 | 228 | 0.0044 | 100 | c.*44 others(111): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4081 | chr4 | TogoVar | ||||||
TRPC6_chr11_101446564_101589007 | 101499730 | T | TATATATA others(93): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 252 | 0.0040 | 100 | c.945 others(117): Show |
TRPC6 | ENSG00000137672.13 | transcript | ENST00000344327.8 | protein_coding | 2/12 | chr11 | TogoVar | ||||||
TTC28_chr22_27973014_28684840 | 28537296 | A | AATAACAT others(93): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0011 | a0011c0029 | a0011c0029t0047 | a0011c0029t0047g0021 | 1 | 196 | 0.0051 | 100 | c.381 others(119): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 2/22 | chr22 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870350 | A | ACAAACCA others(93): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 338 | 0.0030 | 100 | c.*35 others(119): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TXLNG_chrX_16781466_16849519 | 16830830 | C | CGTGTGTG others(93): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0175 | 1 | 264 | 0.0038 | 100 | c.864 others(117): Show |
TXLNG | ENSG00000086712.13 | transcript | ENST00000380122.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
UBE2G1_chr17_4264259_4371675 | 4265413 | G | GTTTTTTT others(93): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 272 | 0.0037 | 100 | c.*71 others(111): Show |
UBE2G1 | ENSG00000132388.13 | transcript | ENST00000396981.7 | protein_coding | 3845 | chr17 | TogoVar | ||||||
UBE2J1_chr6_89321625_89357722 | 89339641 | T | TGGGGGAG others(93): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(251): Show | 336 | 410 | 0.8195 | 100 | c.238 others(117): Show |
UBE2J1 | ENSG00000198833.7 | transcript | ENST00000435041.3 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
UBE2J1_chr6_89321625_89357722 | 89339641 | T | TGGGGGAG others(93): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063a0001c0001t0004g0095 | 2 | 410 | 0.0049 | 100 | c.238 others(117): Show |
UBE2J1 | ENSG00000198833.7 | transcript | ENST00000435041.3 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
UBE2J1_chr6_89321625_89357722 | 89339641 | T | TGGGGGAG others(93): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117a0002c0002t0002g0118 | 2 | 410 | 0.0049 | 100 | c.238 others(117): Show |
UBE2J1 | ENSG00000198833.7 | transcript | ENST00000435041.3 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
UBE2J1_chr6_89321625_89357722 | 89339641 | T | TGGGGGAG others(93): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0034 | a0001c0001t0033g0203a0001c0001t0034g0204 | 2 | 410 | 0.0049 | 100 | c.238 others(117): Show |
UBE2J1 | ENSG00000198833.7 | transcript | ENST00000435041.3 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370139 | G | GTATATGC others(93): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01496.hp2 HG01943.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0076a0001c0002t0002g0077a0001c0002t0002g0078others(7): Show | 10 | 468 | 0.0214 | 100 | c.-6- others(115): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370163 | A | ATATGTGT others(93): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18972.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0067a0001c0002t0007g0068 | 2 | 468 | 0.0043 | 100 | c.-6- others(115): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ULK4_chr3_41241599_41967103 | 41890887 | G | GGAAGGGA others(93): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02735.hp2 |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0001 | a0001c0001t0001g0041a0007c0007t0001g0025 | 2 | 72 | 0.0278 | 100 | c.157 others(119): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 16/36 | chr3 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42078185 | T | TAGAAACC others(93): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0034 | a0034c0180 | a0034c0180t0004 | a0034c0180t0004g0307 | 1 | 400 | 0.0025 | 100 | c.319 others(117): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
UMODL1_chr21_42066317_42147996 | 42078196 | C | CGGGGCCA others(93): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0129 | a0002c0129t0001 | a0002c0129t0001g0276 | 1 | 400 | 0.0025 | 100 | c.319 others(117): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
UMODL1_chr21_42066317_42147996 | 42078247 | G | GGGGCCAG others(93): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 400 | 0.0025 | 100 | c.319 others(117): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
UMODL1_chr21_42066317_42147996 | 42078585 | T | TAGAAACC others(93): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp2 others(10): Show |
a0003a0005a0007others(5): Show | a0003c0003a0003c0045a0005c0002others(6): Show | a0003c0003t0003a0003c0003t0011a0003c0045t0003others(7): Show | a0003c0003t0003g0141a0003c0003t0011g0299a0003c0045t0003g0351others(10): Show | 13 | 400 | 0.0325 | 100 | c.319 others(117): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
UNC5B_chr10_71207570_71307864 | 71296709 | C | CCAGATAT others(93): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0023 | a0023c0028 | a0023c0028t0005 | a0023c0028t0005g0343 | 1 | 368 | 0.0027 | 100 | c.249 others(115): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UNC5B_chr10_71207570_71307864 | 71296762 | C | CATATTCC others(93): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0031 | 1 | 368 | 0.0027 | 100 | c.249 others(115): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UNC5B_chr10_71207570_71307864 | 71296783 | A | ACTGGCGG others(93): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 368 | 0.0027 | 100 | c.249 others(115): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UNC5B_chr10_71207570_71307864 | 71296783 | A | ACTGGCGG others(93): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02602.hp1 HG03130.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0017a0001c0001t0020others(3): Show | a0001c0001t0001g0224a0001c0001t0017g0202a0001c0001t0020g0115others(3): Show | 6 | 368 | 0.0163 | 100 | c.249 others(117): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |