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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1035): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02970.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0118 a0001c0001t0024g0119 a0001c0001t0024g0120 |
3 | 138 | 0.0217 | 1042 | c.127 others(1059): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGAGGG others(1035): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0237 | 1 | 245 | 0.0041 | 1042 | c.371 others(1059): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1035): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0171 | 1 | 82 | 0.0122 | 1042 | c.147 others(1059): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1035): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 67 | 0.0149 | 1042 | c.306 others(1061): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRR22_chr19_5777960_5789746 | 5787204 | G | GGTGGGAG others(1035): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02895.hp1 others(5): Show |
a0002a0005 | a0002c0002a0005c0008 | a0002c0002t0001a0005c0008t0001 | a0002c0002t0001g0002 a0002c0002t0001g0010 a0005c0008t0001g0016 |
8 | 9 | 0.8889 | 1042 | c.-25 others(1053): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 2459 | chr19 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747531 | G | GCACTGGG others(1035): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0085 | a0002c0002t0085g0217 | 1 | 248 | 0.0040 | 1042 | c.189 others(1057): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(1035): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 116 | 0.0172 | 1042 | c.*29 others(1053): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1035): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0298 | 1 | 149 | 0.0067 | 1042 | c.129 others(1059): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1035): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 277 | 0.0036 | 1042 | c.129 others(1059): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917193 | G | GGGCTCGA others(1035): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0031 | a0002c0031t0002 | a0002c0031t0002g0198 | 1 | 304 | 0.0033 | 1042 | c.218 others(1059): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351506 | C | CTCCTCTC others(1035): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0028 | 1 | 194 | 0.0052 | 1042 | c.*53 others(1053): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3708 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1035): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 2 | 0.5000 | 1042 | c.*53 others(1053): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1036): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG02080.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0003a0003c0008others(2): Show | a0001c0002t0001a0001c0003t0001a0003c0008t0001others(2): Show | a0001c0002t0001g0167 a0001c0002t0001g0184 a0001c0003t0001g0134 others(4): Show |
7 | 18 | 0.3889 | 1043 | c.387 others(1062): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(1036): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02257.hp1 |
a0001a0002 | a0001c0044a0002c0060 | a0001c0044t0004a0002c0060t0004 | a0001c0044t0004g0118 a0002c0060t0004g0021 |
2 | 13 | 0.1538 | 1043 | c.387 others(1062): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1036): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 8 | 0.1250 | 1043 | c.285 others(1062): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1036): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0194 | 1 | 8 | 0.1250 | 1043 | c.285 others(1062): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1036): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0257 | 1 | 8 | 0.1250 | 1043 | c.285 others(1062): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1036): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0131 a0001c0002t0002g0210 a0001c0002t0002g0259 |
3 | 10 | 0.3000 | 1043 | c.285 others(1062): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1036): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0211 | 1 | 8 | 0.1250 | 1043 | c.285 others(1062): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1036): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0266 | 1 | 8 | 0.1250 | 1043 | c.285 others(1062): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160652889 | T | TTATACAA others(1036): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0220 | 1 | 88 | 0.0114 | 1043 | c.676 others(1060): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1036): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0021 | a0021c0079 | a0021c0079t0001 | a0021c0079t0001g0273 | 1 | 8 | 0.1250 | 1043 | c.328 others(1060): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1036): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0196 | 1 | 69 | 0.0145 | 1043 | c.*52 others(1054): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
CYLC1_chrX_83856146_83891698 | 83878047 | T | TATAAATA others(1036): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 200 | 0.0050 | 1043 | c.192 others(1062): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1036): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0072 | a0003c0072t0001 | a0003c0072t0001g0274 | 1 | 229 | 0.0044 | 1043 | c.228 others(1060): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1036): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0083 | a0003c0083t0002 | a0003c0083t0002g0275 | 1 | 229 | 0.0044 | 1043 | c.228 others(1060): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322916 | T | TATGGAAT others(1036): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0241 | 1 | 321 | 0.0031 | 1043 | c.-21 others(1054): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2053 | chr21 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1036): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0203 | 1 | 249 | 0.0040 | 1043 | c.-36 others(1054): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1036): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0060 | 1 | 235 | 0.0043 | 1043 | c.*87 others(1052): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCCCTCTC others(1036): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0006 | a0001c0006t0024 | a0001c0006t0024g0155 | 1 | 17 | 0.0588 | 1043 | c.*11 others(1064): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1036): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18943.hp2 NA19012.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0004t0001 | a0001c0002t0001g0068 a0001c0002t0001g0158 a0001c0002t0002g0026 others(1): Show |
4 | 194 | 0.0206 | 1043 | c.193 others(1062): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858178 | A | ACGGGATG others(1036): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 186 | 0.0054 | 1043 | c.153 others(1062): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(1036): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0030 | 1 | 6 | 0.1667 | 1043 | c.100 others(1062): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1036): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0205 | 1 | 125 | 0.0080 | 1043 | c.-49 others(1054): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432644 | G | GAGAGAGA others(1036): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0017 | 1 | 62 | 0.0161 | 1043 | c.225 others(1060): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79532251 | C | CTGCAGCC others(1036): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 279 | 0.0036 | 1043 | c.*46 others(1054): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2929 | chr18 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45910132 | C | CCACACAC others(1036): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 48 | 0.0208 | 1043 | c.471 others(1058): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(1036): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0275 | 1 | 234 | 0.0043 | 1043 | c.126 others(1062): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1036): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0116 | 1 | 100 | 0.0100 | 1043 | c.45- others(1058): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1036): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0292 | 1 | 100 | 0.0100 | 1043 | c.45- others(1058): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCCAC others(1036): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0010 | a0001c0010t0085 | a0001c0010t0085g0270 | 1 | 192 | 0.0052 | 1043 | c.89- others(1056): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(1036): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0165 | 1 | 94 | 0.0106 | 1043 | c.206 others(1062): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(1036): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 NA19054.hp1 NA19057.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 a0001c0003t0001g0103 |
3 | 82 | 0.0366 | 1043 | c.*64 others(1054): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(1036): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 64 | 0.0156 | 1043 | c.79+ others(1060): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828829 | A | AGGGAGGG others(1036): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038 | 1 | 92 | 0.0109 | 1043 | c.79+ others(1060): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1036): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 HG03688.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 52 | 0.0577 | 1043 | c.*24 others(1054): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(1036): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0164 | 1 | 99 | 0.0101 | 1043 | c.392 others(1060): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1036): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 149 | 0.0067 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1036): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 277 | 0.0036 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1036): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 277 | 0.0036 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |