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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCARA5_chr8_27864883_27997673 | 27918978 | A | AGGAGGAG others(741): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0005 | a0001c0005t0038 | a0001c0005t0038g0081 | 1 | 314 | 0.0032 | 748 | c.916 others(765): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(741): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 324 | 0.0031 | 748 | c.115 others(765): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(741): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00621.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0044 others(53): Show |
56 | 270 | 0.2074 | 748 | c.-78 others(767): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(741): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 | 1 | 112 | 0.0089 | 748 | c.142 others(767): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(741): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 112 | 0.0089 | 748 | c.142 others(767): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(741): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0106 | 1 | 112 | 0.0089 | 748 | c.142 others(767): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(741): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 1 | 112 | 0.0089 | 748 | c.142 others(767): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629112 | A | AGGTGGGA others(741): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0054 | 1 | 352 | 0.0028 | 748 | c.299 others(765): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(741): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0036 | a0001c0036t0004 | a0001c0036t0004g0109 | 1 | 128 | 0.0078 | 748 | c.143 others(769): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TPSD1_chr16_1251069_1264008 | 1258796 | T | TCCCTCCC others(741): Show |
3_prime_UTR_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0001 | 1 | 270 | 0.0037 | 748 | c.*42 others(757): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 5/5 | 427 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TRIML1_chr4_188134441_188152743 | 188151395 | G | GAGGGGGT others(741): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 228 | 0.0044 | 748 | c.*40 others(759): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 3653 | chr4 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152172 | A | AGGGGAGT others(741): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 228 | 0.0044 | 748 | c.*48 others(759): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4430 | chr4 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028600 | C | CCCCCATC others(741): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18906.hp1 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0006 | 2 | 224 | 0.0089 | 748 | c.225 others(767): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028618 | G | GAAGACCC others(741): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 | 1 | 224 | 0.0045 | 748 | c.225 others(767): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028618 | G | GAAGACCC others(741): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0188 | 1 | 224 | 0.0045 | 748 | c.225 others(767): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028623 | C | CCCCCACA others(741): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 224 | 0.0045 | 748 | c.225 others(767): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(741): Show |
intron_variant | MODIFIER | NA18986.hp1 NA19086.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0198 a0002c0003t0002g0199 |
2 | 238 | 0.0084 | 748 | c.392 others(765): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370021 | G | GTGTGTAT others(741): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0184 | 1 | 468 | 0.0021 | 748 | c.-6- others(763): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668866 | G | GCCCGGCC others(742): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 |
a0018 | a0018c0085a0018c0087 | a0018c0085t0004a0018c0087t0004 | a0018c0085t0004g0122 a0018c0087t0004g0128 |
2 | 360 | 0.0056 | 749 | c.170 others(770): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0005 | a0001c0005t0036 | a0001c0005t0036g0104 | 1 | 340 | 0.0029 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03225.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0005a0001c0010 | a0001c0005t0012a0001c0005t0057a0001c0010t0012 | a0001c0005t0012g0319 a0001c0005t0057g0323 a0001c0010t0012g0316 others(1): Show |
4 | 340 | 0.0118 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01993.hp2 HG02004.hp2 |
a0001a0003 | a0001c0002a0003c0015 | a0001c0002t0011a0003c0015t0011 | a0001c0002t0011g0236 a0001c0002t0011g0237 a0003c0015t0011g0234 |
3 | 340 | 0.0088 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029 | a0001c0001t0002g0055 a0001c0001t0029g0009 |
2 | 340 | 0.0059 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03195.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0018a0001c0003t0019 | a0001c0003t0018g0232 a0001c0003t0018g0233 a0001c0003t0019g0230 others(1): Show |
4 | 340 | 0.0118 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0334 a0001c0001t0008g0339 |
2 | 340 | 0.0059 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01261.hp2 HG01433.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0058others(1): Show | a0001c0001t0015g0324 a0001c0001t0015g0326 a0001c0001t0016g0327 others(4): Show |
7 | 340 | 0.0206 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03130.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0335 a0001c0001t0008g0336 a0001c0001t0008g0337 |
3 | 340 | 0.0088 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0332 | 1 | 340 | 0.0029 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156 | 1 | 340 | 0.0029 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 340 | 0.0029 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01069.hp1 others(23): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0256 others(23): Show |
26 | 340 | 0.0765 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0274 | 1 | 340 | 0.0029 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 340 | 0.0029 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 340 | 0.0029 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(84): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0013a0001c0001t0023others(8): Show | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(83): Show |
87 | 340 | 0.2559 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 | 1 | 340 | 0.0029 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(107): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(13): Show | a0001c0001t0001g0166 a0001c0002t0001g0112 a0001c0002t0001g0113 others(107): Show |
110 | 340 | 0.3235 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 340 | 0.0029 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 a0001c0002t0001g0225 |
2 | 340 | 0.0059 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0178 | 1 | 340 | 0.0029 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(742): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0272 | 1 | 340 | 0.0029 | 749 | c.352 others(766): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(742): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 242 | 0.0041 | 749 | c.927 others(766): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(742): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0057 | 1 | 242 | 0.0041 | 749 | c.927 others(766): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(742): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01167.hp1 others(27): Show |
a0005a0009a0012others(14): Show | a0005c0005a0009c0009a0012c0013others(14): Show | a0005c0005t0001a0009c0009t0001a0012c0013t0001others(14): Show | a0005c0005t0001g0297 a0005c0005t0001g0298 a0005c0005t0001g0300 others(27): Show |
30 | 346 | 0.0867 | 749 | c.963 others(766): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(742): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03490.hp1 HG03492.hp2 |
a0003a0004 | a0003c0004a0004c0003 | a0003c0004t0001a0004c0003t0001 | a0003c0004t0001g0212 a0003c0004t0001g0312 a0004c0003t0001g0316 |
3 | 346 | 0.0087 | 749 | c.963 others(766): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(742): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01192.hp2 others(8): Show |
a0003a0011a0012others(3): Show | a0003c0004a0011c0014a0012c0013others(3): Show | a0003c0004t0001a0011c0014t0001a0012c0013t0001others(3): Show | a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0001g0307 others(7): Show |
11 | 346 | 0.0318 | 749 | c.963 others(766): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(742): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 142 | 0.0070 | 749 | c.245 others(766): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(742): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0011 | a0011c0010 | a0011c0010t0002 | a0011c0010t0002g0084 | 1 | 398 | 0.0025 | 749 | c.666 others(764): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803280 | G | GCCGGGGG others(742): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0327 | 1 | 398 | 0.0025 | 749 | c.666 others(764): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATATA others(742): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0004 | a0004c0013 | a0004c0013t0003 | a0004c0013t0003g0048 | 1 | 236 | 0.0042 | 749 | c.342 others(770): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |