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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1162): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0252 | 1 | 402 | 0.0025 | 1169 | c.292 others(1188): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KIAA0930_chr22_45187244_45245894 | 45228896 | C | CCAACCAC others(1162): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0179 | a0001c0001t0179g0340 | 1 | 398 | 0.0025 | 1169 | c.64+ others(1186): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
LMTK3_chr19_48480271_48516835 | 48514893 | A | AAAGAAAA others(1162): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0000 | a0000c0001 | a0000c0001t0001 | a0000c0001t0001g0034 | 1 | 314 | 0.0032 | 1169 | c.-33 others(1180): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 3059 | chr19 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTGCCC others(1162): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0104 | 1 | 194 | 0.0052 | 1169 | c.-12 others(1188): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(1162): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 140 | 0.0071 | 1169 | c.133 others(1188): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64202013 | C | CCCCCCGC others(1162): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 223 | 0.0045 | 1169 | c.86+ others(1184): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492394 | C | CCCGGGAG others(1162): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0284 | 1 | 295 | 0.0034 | 1169 | c.126 others(1188): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 304168 | A | AGGGAGGG others(1162): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 133 | 0.0075 | 1169 | c.351 others(1188): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304168 | A | AGGGAGGG others(1162): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 133 | 0.0075 | 1169 | c.351 others(1188): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1162): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214a0001c0001t0001g0215 | 2 | 256 | 0.0078 | 1169 | c.365 others(1186): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1162): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18906.hp1 |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0010a0007c0016t0010 | a0001c0001t0010g0249a0007c0016t0010g0250 | 2 | 256 | 0.0078 | 1169 | c.365 others(1186): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1162): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00673.hp2 others(26): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0147a0001c0001t0001g0174a0001c0001t0001g0179others(26): Show | 29 | 256 | 0.1133 | 1169 | c.365 others(1186): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1162): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 256 | 0.0039 | 1169 | c.365 others(1186): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1162): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0006 | a0003c0006t0010 | a0003c0006t0010g0253 | 1 | 256 | 0.0039 | 1169 | c.365 others(1186): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1162): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0006 | a0006c0011 | a0006c0011t0013 | a0006c0011t0013g0217 | 1 | 256 | 0.0039 | 1169 | c.365 others(1186): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1162): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01192.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0002g0153others(6): Show | 9 | 256 | 0.0352 | 1169 | c.365 others(1186): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1162): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 256 | 0.0039 | 1169 | c.365 others(1186): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507379 | T | TACGTATA others(1162): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0263 | 1 | 388 | 0.0026 | 1169 | c.-23 others(1186): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507379 | T | TACGTATA others(1162): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0291 | 1 | 388 | 0.0026 | 1169 | c.-23 others(1186): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917081 | C | CTCGGAGG others(1162): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 344 | 0.0029 | 1169 | c.218 others(1184): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1162): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 228 | 0.0044 | 1169 | c.127 others(1186): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88501442 | A | ATCCCGCA others(1162): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0273a0001c0001t0029g0274 | 2 | 318 | 0.0063 | 1169 | c.268 others(1188): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(1163): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 306 | 0.0033 | 1170 | c.130 others(1189): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1163): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00741.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0081a0001c0001t0002g0209a0001c0001t0002g0223others(18): Show | 21 | 337 | 0.0623 | 1170 | c.179 others(1191): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(1163): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18999.hp2 NA19004.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0017 | a0001c0001t0001a0005c0017t0047 | a0001c0001t0001g0046a0001c0001t0001g0208a0001c0001t0001g0209others(1): Show | 4 | 262 | 0.0153 | 1170 | c.775 others(1185): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281256 | C | CGGCCTTC others(1163): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0036a0001c0002t0001g0043others(3): Show | 7 | 398 | 0.0176 | 1170 | c.310 others(1187): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1163): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0035 | a0002c0035t0001 | a0002c0035t0001g0172 | 1 | 338 | 0.0030 | 1170 | c.300 others(1187): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGGGAG others(1163): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0272 | 1 | 288 | 0.0035 | 1170 | c.303 others(1189): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262259 | C | CTCACAGG others(1163): Show |
intron_variant | MODIFIER | NA18965.hp1 NA19010.hp2 NA19057.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080a0001c0001t0002g0081a0001c0001t0002g0082others(1): Show | 4 | 290 | 0.0138 | 1170 | c.-95 others(1189): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1163): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0062 | 1 | 116 | 0.0086 | 1170 | c.-52 others(1191): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1163): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 175 | 0.0057 | 1170 | c.164 others(1189): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNOT3_chr19_54132762_54160681 | 54133762 | C | CCTCTCTC others(1163): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 223 | 0.0045 | 1170 | c.-42 others(1181): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3999 | chr19 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(1163): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0040 | 1 | 320 | 0.0031 | 1170 | c.380 others(1187): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1163): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 208 | 0.0048 | 1170 | c.192 others(1189): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 802065 | C | CCCTCCTG others(1163): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | 1170 | c.18+ others(1187): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 802065 | C | CCCTCCTG others(1163): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0037 | 1 | 40 | 0.0250 | 1170 | c.18+ others(1187): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1163): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0143 | 1 | 374 | 0.0027 | 1170 | c.772 others(1185): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1163): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 NA18522.hp2 |
a0001 | a0001c0007 | a0001c0007t0001a0001c0007t0003a0001c0007t0006 | a0001c0007t0001g0123a0001c0007t0003g0119a0001c0007t0006g0122 | 3 | 374 | 0.0080 | 1170 | c.772 others(1185): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1163): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 | 1 | 374 | 0.0027 | 1170 | c.772 others(1185): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252950 | T | TCACCACC others(1163): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0265 | 1 | 366 | 0.0027 | 1170 | c.666 others(1187): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GAS6_chr13_113815549_113869076 | 113824128 | C | CCCGCGGT others(1163): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02145.hp2 NA18522.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0011a0002c0005t0001g0015a0002c0005t0001g0016 | 3 | 143 | 0.0210 | 1170 | c.147 others(1187): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1163): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 242 | 0.0041 | 1170 | c.174 others(1189): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124610989 | C | CGGGTGCG others(1163): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0114a0001c0001t0004g0115 | 2 | 260 | 0.0077 | 1170 | c.717 others(1187): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LMTK3_chr19_48480271_48516835 | 48514892 | A | AAAAGAAA others(1163): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 314 | 0.0032 | 1170 | c.-33 others(1181): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 3058 | chr19 | TogoVar | ||||||
LMTK3_chr19_48480271_48516835 | 48514892 | A | AAAAGAAA others(1163): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01243.hp1 others(11): Show |
a0000a0001a0002 | a0000c0001a0000c0004a0001c0002others(1): Show | a0000c0001t0001a0000c0004t0001a0001c0002t0001others(1): Show | a0000c0001t0001g0006a0000c0001t0001g0040a0000c0001t0001g0041others(10): Show | 14 | 314 | 0.0446 | 1170 | c.-33 others(1181): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 3058 | chr19 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916118 | T | TATATACA others(1163): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0100 | 1 | 108 | 0.0093 | 1170 | c.648 others(1189): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1163): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0049 | a0049c0122 | a0049c0122t0009 | a0049c0122t0009g0244 | 1 | 292 | 0.0034 | 1170 | c.218 others(1185): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583700 | G | GCGCAGCC others(1163): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0144 | 1 | 292 | 0.0034 | 1170 | c.377 others(1187): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
NKX1-1_chr4_1397932_1411442 | 1397942 | C | CGGGTGCT others(1163): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0003 | 1 | 382 | 0.0026 | 1170 | c.*49 others(1181): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4989 | chr4 | TogoVar | ||||||
NKX1-1_chr4_1397932_1411442 | 1397968 | A | AGTAGATC others(1163): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG02135.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001a0001c0001t0000g0030 | 7 | 382 | 0.0183 | 1170 | c.*49 others(1181): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4963 | chr4 | TogoVar |