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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LMF1_chr16_848634_975984 | 859736 | C | CGGGTGTG others(736): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0163 |
2 | 294 | 0.0068 | 743 | c.153 others(762): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859736 | C | CGGGTGTG others(736): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0159 | 1 | 294 | 0.0034 | 743 | c.153 others(762): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871890 | G | GAGGGGGA others(736): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0013 | 1 | 56 | 0.0179 | 743 | c.209 others(758): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
MPG_chr16_73225_90846 | 82247 | G | GCTCCCCA others(736): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02523.hp2 HG02602.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0189 a0001c0001t0001g0257 a0003c0006t0001g0192 |
3 | 442 | 0.0068 | 743 | c.301 others(758): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(736): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 140 | 0.0071 | 743 | c.114 others(762): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(736): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02922.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0029 others(3): Show |
6 | 312 | 0.0192 | 743 | c.293 others(762): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(736): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 a0001c0001t0004g0048 |
2 | 312 | 0.0064 | 743 | c.293 others(762): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(736): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01192.hp1 HG01993.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021 | a0001c0001t0001g0270 a0001c0001t0001g0298 a0001c0001t0002g0278 others(3): Show |
6 | 312 | 0.0192 | 743 | c.293 others(762): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(736): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 384 | 0.0026 | 743 | c.160 others(760): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82247 | G | GCTCCCCA others(736): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG02523.hp2 HG02602.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0005a0001c0013t0005 | a0001c0001t0005g0038 a0001c0001t0005g0045 a0001c0013t0005g0083 |
3 | 350 | 0.0086 | 743 | c.*44 others(754): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3138 | chr16 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237753 | A | ACTATAGT others(736): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 439 | 0.0023 | 743 | c.-15 others(754): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1532 | chr14 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(736): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0004 | a0004c0015 | a0004c0015t0016 | a0004c0015t0016g0003 | 1 | 295 | 0.0034 | 743 | c.126 others(762): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504279 | C | CTCCCATC others(736): Show |
intron_variant | MODIFIER | HG01516.hp2 NA20805.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0016 | a0001c0002t0002g0141 a0001c0002t0016g0156 |
2 | 295 | 0.0068 | 743 | c.139 others(762): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803080 | G | GGGGGCCC others(736): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 330 | 0.0030 | 743 | c.-51 others(754): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4867 | chr9 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(736): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 304 | 0.0033 | 743 | c.66+ others(758): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388500 | T | TTATAGCT others(736): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 304 | 0.0033 | 743 | c.66+ others(758): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971177 | A | AGCTGCTG others(736): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0170 | 1 | 384 | 0.0026 | 743 | c.157 others(762): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | chr11 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971177 | A | AGCTGCTG others(736): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0067 | 1 | 384 | 0.0026 | 743 | c.157 others(762): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | chr11 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971177 | A | AGCTGCTG others(736): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0181 | 1 | 384 | 0.0026 | 743 | c.157 others(762): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | chr11 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971177 | A | AGCTGCTG others(736): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0205 | 1 | 384 | 0.0026 | 743 | c.157 others(762): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | chr11 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918975 | A | AGGAGGAG others(736): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0130 | 1 | 314 | 0.0032 | 743 | c.916 others(760): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918984 | A | AGAAAGAG others(736): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02258.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0024a0001c0001t0025a0001c0001t0032others(8): Show | a0001c0001t0024g0134 a0001c0001t0025g0189 a0001c0001t0032g0114 others(9): Show |
12 | 314 | 0.0382 | 743 | c.916 others(760): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918986 | G | GAGAAGGA others(736): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0011 | a0001c0001t0001a0001c0003t0009a0003c0011t0049 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0003t0009g0013 others(1): Show |
4 | 314 | 0.0127 | 743 | c.916 others(760): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628904 | C | CGGGGTGA others(736): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0069 | 1 | 352 | 0.0028 | 743 | c.299 others(760): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273451 | C | CACGACCG others(736): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 2 | 392 | 0.0051 | 743 | c.228 others(762): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(736): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(73): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(64): Show |
76 | 360 | 0.2111 | 743 | c.*62 others(754): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(736): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0303 | 1 | 360 | 0.0028 | 743 | c.*62 others(754): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(736): Show |
downstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0205 | 1 | 360 | 0.0028 | 743 | c.*62 others(754): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124011 | T | TATAATAT others(736): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 360 | 0.0028 | 743 | c.*62 others(754): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3373 | chr20 | TogoVar | |||||||
TP73_chr1_3647516_3741201 | 3694621 | C | CTCAGCCC others(736): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0129 | 1 | 358 | 0.0028 | 743 | c.186 others(762): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3438146 | C | CCCCCATC others(736): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0022 | a0002c0022t0002 | a0002c0022t0002g0141 | 1 | 344 | 0.0029 | 743 | c.141 others(762): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(736): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 360 | 0.0028 | 743 | c.*24 others(754): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530406 | A | ATTATATA others(736): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 238 | 0.0042 | 743 | c.392 others(760): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(736): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0190 | 1 | 322 | 0.0031 | 743 | c.4-1 others(756): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251784 | A | AAGGGAAG others(737): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0076 | 1 | 242 | 0.0041 | 744 | c.927 others(761): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(737): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0083 | 1 | 242 | 0.0041 | 744 | c.927 others(761): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(737): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 242 | 0.0041 | 744 | c.927 others(761): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687797 | C | CGTGACCA others(737): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 246 | 0.0041 | 744 | c.-21 others(755): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1952 | chr8 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79327523 | G | GTTCTCCG others(737): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0285 | 1 | 298 | 0.0034 | 744 | c.177 others(763): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79327791 | G | GTGTGTTC others(737): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0056 | 1 | 298 | 0.0034 | 744 | c.177 others(763): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79336043 | A | ATGCCCTC others(737): Show |
intron_variant | MODIFIER | NA18942.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0077 |
2 | 298 | 0.0067 | 744 | c.202 others(761): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336102 | A | ACCATGCC others(737): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 298 | 0.0034 | 744 | c.202 others(761): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336167 | G | GTGCCCTC others(737): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0038 | 1 | 298 | 0.0034 | 744 | c.202 others(761): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(737): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 391 | 0.0026 | 744 | c.*36 others(755): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004352 | C | CTGTGATG others(737): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0063 | a0063c0111 | a0063c0111t0001 | a0063c0111t0001g0288 | 1 | 346 | 0.0029 | 744 | c.963 others(761): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803282 | T | TGGGGCCC others(737): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0290 | 1 | 398 | 0.0025 | 744 | c.666 others(759): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46366255 | A | AGAAAGGT others(737): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0021 | a0021c0069 | a0021c0069t0005 | a0021c0069t0005g0001 | 1 | 104 | 0.0096 | 744 | c.830 others(761): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35966308 | T | TGCTAATA others(737): Show |
intron_variant | MODIFIER | HG03041.hp1 NA19240.hp2 |
a0017 | a0017c0016 | a0017c0016t0001 | a0017c0016t0001g0193 a0017c0016t0001g0200 |
2 | 216 | 0.0093 | 744 | c.141 others(761): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133807 | C | CCTCTCCA others(737): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 223 | 0.0045 | 744 | c.-42 others(755): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3954 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133994 | C | CACCTTCC others(737): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 223 | 0.0045 | 744 | c.-40 others(755): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3767 | chr19 | TogoVar |