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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAP3K15_chrX_19355059_19520508 | 19478085 | A | AGAGGGGG others(1069): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0129 | 1 | 163 | 0.0061 | 1076 | c.525 others(1093): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
OPA3_chr19_45541281_45589802 | 45580001 | C | CTTTTTTT others(1069): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0142 | 1 | 398 | 0.0025 | 1076 | c.142 others(1093): Show |
OPA3 | ENSG00000125741.6 | transcript | ENST00000263275.5 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1069): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 456 | 0.0022 | 1076 | c.*31 others(1087): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1069): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0022 | a0003c0022t0001 | a0003c0022t0001g0277 | 1 | 302 | 0.0033 | 1076 | c.533 others(1093): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1069): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0192 | 1 | 276 | 0.0036 | 1076 | c.139 others(1093): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1069): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01952.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0023a0001c0001t0002g0220a0001c0001t0003g0194others(12): Show | 15 | 276 | 0.0544 | 1076 | c.139 others(1093): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1069): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0011 | a0001c0011t0032 | a0001c0011t0032g0010 | 1 | 276 | 0.0036 | 1076 | c.139 others(1093): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1069): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18940.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0021 | a0001c0001t0004g0017a0001c0001t0004g0046a0001c0001t0021g0232 | 3 | 276 | 0.0109 | 1076 | c.139 others(1093): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1069): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0025 | a0001c0004t0025g0235 | 1 | 276 | 0.0036 | 1076 | c.139 others(1093): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(1069): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182 | 1 | 304 | 0.0033 | 1076 | c.66+ others(1091): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(1069): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0060a0001c0005t0032a0001c0005t0078 | a0001c0003t0060g0123a0001c0005t0032g0296a0001c0005t0032g0298others(1): Show | 4 | 306 | 0.0131 | 1076 | c.*12 others(1089): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249340 | G | GAGCAGGA others(1069): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0067 | 1 | 214 | 0.0047 | 1076 | c.206 others(1095): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642039 | G | GGGGGGGG others(1069): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 422 | 0.0024 | 1076 | c.*66 others(1087): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4575 | chr20 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9705884 | A | ACACTGGT others(1069): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0096 | 1 | 294 | 0.0034 | 1076 | c.241 others(1093): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 394 | 0.0025 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 394 | 0.0025 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 394 | 0.0025 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 394 | 0.0025 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 394 | 0.0025 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01517.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0132a0001c0001t0001g0133others(2): Show | 5 | 394 | 0.0127 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01192.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0014 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0017others(14): Show | 22 | 394 | 0.0558 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01175.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0182a0001c0001t0001g0183others(4): Show | 7 | 394 | 0.0178 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01358.hp1 HG02004.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0038others(2): Show | 8 | 394 | 0.0203 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18990.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0122a0001c0001t0001g0139a0001c0001t0011g0153 | 3 | 394 | 0.0076 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 394 | 0.0025 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | NA18984.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0138 | 2 | 394 | 0.0051 | 1076 | c.129 others(1093): 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(1069): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0152 | 3 | 394 | 0.0076 | 1076 | c.129 others(1093): 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(1069): Show |
intron_variant | MODIFIER | HG01256.hp1 NA18944.hp2 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0326others(1): Show | 4 | 394 | 0.0102 | 1076 | c.129 others(1093): 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(1069): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 394 | 0.0025 | 1076 | c.129 others(1093): 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(1069): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 394 | 0.0025 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670531 | T | TCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0289 | 1 | 394 | 0.0025 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(1070): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0004 | a0004c0076 | a0004c0076t0001 | a0004c0076t0001g0186 | 1 | 228 | 0.0044 | 1077 | c.259 others(1098): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(1070): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0029 | a0002c0029t0002 | a0002c0029t0002g0067 | 1 | 228 | 0.0044 | 1077 | c.118 others(1096): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1070): Show |
3_prime_UTR_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0108 | a0001c0002t0108g0138 | 1 | 350 | 0.0029 | 1077 | c.*23 others(1088): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1070): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 | 1 | 238 | 0.0042 | 1077 | c.787 others(1092): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82972300 | T | TGACCACA others(1070): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0080 | 1 | 266 | 0.0038 | 1077 | c.460 others(1094): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1070): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 326 | 0.0031 | 1077 | c.327 others(1094): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1070): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0042 | 1 | 278 | 0.0036 | 1077 | c.328 others(1094): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(1070): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0234 | 1 | 276 | 0.0036 | 1077 | c.*51 others(1088): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252977 | C | CCACCACC others(1070): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0292 | 1 | 366 | 0.0027 | 1077 | c.666 others(1094): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399448 | T | TCACCACC others(1070): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 314 | 0.0032 | 1077 | c.-25 others(1094): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LMF1_chr16_848634_975984 | 859153 | C | CAGTGGTG others(1070): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 |
a0001 | a0001c0018a0001c0020 | a0001c0018t0001a0001c0020t0001 | a0001c0018t0001g0242a0001c0020t0001g0100 | 2 | 294 | 0.0068 | 1077 | c.153 others(1096): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1070): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 326 | 0.0031 | 1077 | c.162 others(1096): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1070): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01256.hp2 HG01928.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0193a0001c0001t0001g0239others(1): Show | 4 | 326 | 0.0123 | 1077 | c.162 others(1096): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1070): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0010 | a0001c0010t0040 | a0001c0010t0040g0009 | 1 | 276 | 0.0036 | 1077 | c.139 others(1094): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(1070): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 370 | 0.0027 | 1077 | c.438 others(1094): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934420 | T | TATATATA others(1070): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0291 | 1 | 324 | 0.0031 | 1077 | c.115 others(1094): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594832 | G | GAGCATCT others(1070): Show |
intron_variant | MODIFIER | NA18971.hp2 NA18990.hp2 NA19085.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0002t0002g0014 | 3 | 180 | 0.0167 | 1077 | c.638 others(1094): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SRXN1_chr20_641615_658200 | 642262 | T | TGGGGGGA others(1070): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0048 | 1 | 422 | 0.0024 | 1077 | c.*64 others(1088): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4352 | chr20 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1070): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 258 | 0.0039 | 1077 | c.113 others(1096): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |