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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM132C_chr12_128262170_128712911 | 128708344 | G | GACTCACC others(997): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0031 | 1 | 170 | 0.0059 | 1004 | c.*20 others(1015): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 434 | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGGTTCG others(997): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 344 | 0.0029 | 1004 | c.218 others(1021): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(997): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 167 | 0.0060 | 1004 | c.*53 others(1015): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(997): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 167 | 0.0060 | 1004 | c.*53 others(1015): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(997): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 202 | 0.0050 | 1004 | c.*53 others(1015): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844449 | A | AGAGGTGG others(997): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0012 | a0012c0028 | a0012c0028t0002 | a0012c0028t0002g0003 | 1 | 341 | 0.0029 | 1004 | c.*43 others(1013): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 307 | chrX | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(997): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0286 | 1 | 314 | 0.0032 | 1004 | c.97+ others(1019): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(997): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02027.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(1): Show | a0001c0001t0001g0224a0001c0001t0002g0089a0001c0001t0002g0134others(2): Show | 5 | 314 | 0.0159 | 1004 | c.97+ others(1019): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(997): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0138 | 2 | 314 | 0.0064 | 1004 | c.97+ others(1019): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(997): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0014 | 1 | 314 | 0.0032 | 1004 | c.97+ others(1019): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(997): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0090 | 1 | 314 | 0.0032 | 1004 | c.97+ others(1019): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(997): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02109.hp2 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0066a0001c0001t0001g0150others(9): Show | 12 | 314 | 0.0382 | 1004 | c.97+ others(1019): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370953 | G | GTGATATA others(997): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0120 | 1 | 350 | 0.0029 | 1004 | c.-35 others(1015): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3415 | chr10 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713672 | T | TGTATACA others(998): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0323 | 1 | 344 | 0.0029 | 1005 | c.127 others(1022): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(998): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG01358.hp1 HG01934.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0013a0002c0002t0045others(1): Show | a0002c0002t0011g0000a0002c0002t0013g0000a0002c0002t0045g0000others(1): Show | 11 | 416 | 0.0264 | 1005 | c.*10 others(1018): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(998): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0000 | 1 | 416 | 0.0024 | 1005 | c.*10 others(1018): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(998): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 338 | 0.0030 | 1005 | c.300 others(1022): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(998): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00735.hp1 others(26): Show |
a0001a0006a0010 | a0001c0001a0001c0002a0006c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0034a0001c0001t0001g0035others(26): Show | 29 | 288 | 0.1007 | 1005 | c.672 others(1020): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(998): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0186 | 1 | 288 | 0.0035 | 1005 | c.672 others(1020): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCTCAGAT others(998): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0026 | a0002c0026t0015 | a0002c0026t0015g0079 | 1 | 106 | 0.0094 | 1005 | c.169 others(1024): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(998): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0007 | 1 | 104 | 0.0096 | 1005 | c.830 others(1022): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(998): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 236 | 0.0042 | 1005 | c.342 others(1026): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(998): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19005.hp1 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0144a0001c0001t0002g0158a0002c0002t0002g0045 | 3 | 236 | 0.0127 | 1005 | c.342 others(1026): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CIITA_chr16_10872202_10941394 | 10884128 | T | TCCCCTAA others(998): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02486.hp2 others(3): Show |
a0002a0008a0011others(2): Show | a0002c0046a0008c0047a0011c0043others(3): Show | a0002c0046t0105a0008c0047t0104a0011c0043t0101others(3): Show | a0002c0046t0105g0033a0008c0047t0104g0034a0011c0043t0101g0032others(3): Show | 6 | 392 | 0.0153 | 1005 | c.52+ others(1020): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | chr16 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10884128 | T | TCCCCTAA others(998): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01069.hp1 HG01099.hp2 others(59): Show |
a0003a0004a0007others(2): Show | a0003c0007a0003c0009a0003c0010others(7): Show | a0003c0007t0001a0003c0007t0002a0003c0007t0004others(36): Show | a0003c0007t0001g0148a0003c0007t0001g0178a0003c0007t0002g0149others(59): Show | 62 | 392 | 0.1582 | 1005 | c.52+ others(1020): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | chr16 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10884128 | T | TCCCCTAA others(998): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0007 | a0007c0011 | a0007c0011t0006 | a0007c0011t0006g0198 | 1 | 392 | 0.0026 | 1005 | c.52+ others(1020): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | chr16 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10884128 | T | TCCCCTAA others(998): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0008 | a0008c0013 | a0008c0013t0131 | a0008c0013t0131g0128 | 1 | 392 | 0.0026 | 1005 | c.52+ others(1020): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | chr16 | TogoVar | ||||||
CLTCL1_chr22_19174473_19296719 | 19202405 | C | CCATCCAC others(998): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0008 | a0008c0010 | a0008c0010t0005 | a0008c0010t0005g0009 | 1 | 346 | 0.0029 | 1005 | c.360 others(1022): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(998): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 320 | 0.0031 | 1005 | c.380 others(1022): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(998): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 320 | 0.0031 | 1005 | c.380 others(1022): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGCAGG others(998): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0108 | 1 | 344 | 0.0029 | 1005 | c.85- others(1022): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79685009 | G | GGTGCAGG others(998): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192a0001c0001t0002g0193a0001c0001t0002g0194 | 3 | 378 | 0.0079 | 1005 | c.314 others(1022): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79685009 | G | GGTGCAGG others(998): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 378 | 0.0027 | 1005 | c.314 others(1022): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTU2_chr16_88701503_88720396 | 88712963 | G | GCCCCCTT others(998): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0166 | 1 | 418 | 0.0024 | 1005 | c.737 others(1018): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(998): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0228 | 1 | 230 | 0.0044 | 1005 | c.724 others(1024): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACCACT others(998): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0012 | a0001c0012t0010 | a0001c0012t0010g0026 | 1 | 230 | 0.0044 | 1005 | c.724 others(1024): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACCACT others(998): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 230 | 0.0044 | 1005 | c.724 others(1024): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252905 | C | CCACCACC others(998): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0276 | 1 | 366 | 0.0027 | 1005 | c.666 others(1022): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GAS6_chr13_113815549_113869076 | 113842086 | C | CCACAGTT others(998): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18522.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0015a0002c0005t0001g0016 | 2 | 143 | 0.0140 | 1005 | c.344 others(1022): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(998): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 350 | 0.0029 | 1005 | c.94- others(1018): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HLA-DQB1_chr6_32654467_32671657 | 32667887 | C | CCTGGTGT others(998): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0014 | a0001c0001t0006g0003a0001c0001t0006g0017a0001c0001t0012g0014others(2): Show | 51 | 402 | 0.1269 | 1005 | c.-12 others(1016): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 1231 | chr6 | TogoVar | ||||||
HLA-DQB1_chr6_32654467_32671657 | 32667887 | C | CCTGGTGT others(998): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0017 | 1 | 402 | 0.0025 | 1005 | c.-12 others(1016): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 1231 | chr6 | TogoVar | ||||||
HLA-DQB1_chr6_32654467_32671657 | 32667887 | C | CCTGGTGT others(998): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0036 | 1 | 402 | 0.0025 | 1005 | c.-12 others(1016): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 1231 | chr6 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152671 | T | TCTCCTTC others(998): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 274 | 0.0037 | 1005 | c.804 others(1022): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87738956 | C | CCACACAC others(998): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0003 | a0003c0030 | a0003c0030t0001 | a0003c0030t0001g0319 | 1 | 380 | 0.0026 | 1005 | c.507 others(1022): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87738956 | C | CCACACAC others(998): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0198 | 1 | 380 | 0.0026 | 1005 | c.507 others(1022): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87738956 | C | CCACACAC others(998): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(15): Show |
a0003a0006a0024 | a0003c0003a0006c0006a0024c0029 | a0003c0003t0001a0003c0003t0002a0006c0006t0001others(1): Show | a0003c0003t0001g0308a0003c0003t0001g0310a0003c0003t0001g0311others(15): Show | 18 | 380 | 0.0474 | 1005 | c.507 others(1022): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(998): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | 1005 | c.-27 others(1016): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859557 | G | GGTGTCTC others(998): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0096 | 1 | 294 | 0.0034 | 1005 | c.153 others(1024): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117429525 | C | CAGAGGGG others(998): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0040 | 1 | 370 | 0.0027 | 1005 | c.855 others(1022): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | chr1 | TogoVar |