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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OLFM1_chr9_135082668_135126180 | 135096119 | T | TCCTTCTT others(1220): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0297 | 1 | 360 | 0.0028 | 1227 | c.456 others(1242): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1220): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 326 | 0.0031 | 1227 | c.162 others(1246): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(1220): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03041.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0006 | a0001c0001t0003g0031a0002c0004t0006g0130 | 2 | 272 | 0.0074 | 1227 | c.-12 others(1248): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(1220): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0075others(27): Show | 30 | 272 | 0.1103 | 1227 | c.-12 others(1248): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114044353 | A | AGCTCCCC others(1220): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 67 | 0.0149 | 1227 | c.278 others(1244): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289633 | T | TCCCGTGT others(1220): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 290 | 0.0035 | 1227 | c.166 others(1244): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TMEM178B_chr7_141069064_141485380 | 141337156 | C | CACCACCA others(1220): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0006 | 1 | 80 | 0.0125 | 1227 | c.497 others(1248): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1221): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 337 | 0.0030 | 1228 | c.179 others(1249): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1221): Show |
intron_variant | MODIFIER | NA18943.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0204a0001c0001t0010g0314 | 2 | 337 | 0.0059 | 1228 | c.179 others(1249): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1221): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0016a0001c0003t0024a0001c0003t0080others(1): Show | a0001c0003t0016g0218a0001c0003t0016g0229a0001c0003t0024g0040others(2): Show | 5 | 337 | 0.0148 | 1228 | c.179 others(1249): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1221): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0082others(49): Show | 52 | 337 | 0.1543 | 1228 | c.179 others(1249): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1221): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0268 | 1 | 337 | 0.0030 | 1228 | c.179 others(1249): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1221): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0050 | 1 | 337 | 0.0030 | 1228 | c.179 others(1249): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1221): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0178 | 1 | 242 | 0.0041 | 1228 | c.927 others(1245): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(1221): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 326 | 0.0031 | 1228 | c.-13 others(1247): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1221): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0085 | 1 | 116 | 0.0086 | 1228 | c.-52 others(1249): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1221): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0109 | 1 | 208 | 0.0048 | 1228 | c.192 others(1247): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1221): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0013 | 1 | 148 | 0.0068 | 1228 | c.183 others(1247): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 965473 | C | CACGGCAC others(1221): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 40 | 0.0250 | 1228 | c.73+ others(1245): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706309 | G | GATAGATA others(1221): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0005 | a0005c0019 | a0005c0019t0005 | a0005c0019t0005g0213 | 1 | 369 | 0.0027 | 1228 | c.-50 others(1239): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4891 | chr4 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1221): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0153 | 1 | 242 | 0.0041 | 1228 | c.174 others(1247): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110690452 | A | ATATATAT others(1221): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0006 | a0006c0008 | a0006c0008t0007 | a0006c0008t0007g0150 | 1 | 326 | 0.0031 | 1228 | c.358 others(1245): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1221): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0292a0001c0001t0004g0295 | 2 | 360 | 0.0056 | 1228 | c.456 others(1243): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1221): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0016a0001c0001t0004g0289a0001c0001t0004g0293others(2): Show | 7 | 360 | 0.0194 | 1228 | c.456 others(1243): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1221): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 326 | 0.0031 | 1228 | c.162 others(1247): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1221): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(85): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0029others(83): Show | 88 | 326 | 0.2699 | 1228 | c.162 others(1247): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1221): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270a0001c0001t0001g0299 | 2 | 326 | 0.0061 | 1228 | c.162 others(1247): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1221): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0158 | 3 | 326 | 0.0092 | 1228 | c.162 others(1247): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1221): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 312 | 0.0032 | 1228 | c.306 others(1247): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3162852 | G | GGCCCCCG others(1221): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(14): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0016others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(13): Show | a0001c0001t0001g0179a0001c0001t0001g0203a0001c0001t0002g0012others(14): Show | 17 | 210 | 0.0810 | 1228 | c.38- others(1245): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3162852 | G | GGCCCCCG others(1221): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02523.hp2 NA18950.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0038others(1): Show | a0001c0002t0001g0014a0001c0002t0002g0169a0001c0002t0038g0077others(1): Show | 4 | 210 | 0.0191 | 1228 | c.38- others(1245): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1221): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173a0001c0001t0002g0174 | 2 | 304 | 0.0066 | 1228 | c.347 others(1243): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1221): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 2 | 322 | 0.0062 | 1228 | c.-93 others(1245): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SLC22A3_chr6_160343378_160457577 | 160456788 | G | GTGGTAGT others(1221): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0006 | 1 | 318 | 0.0031 | 1228 | c.*57 others(1239): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4212 | chr6 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028886 | A | ACCCCCAC others(1221): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0028 | 1 | 224 | 0.0045 | 1228 | c.225 others(1247): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(1221): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 338 | 0.0030 | 1228 | c.*35 others(1247): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(1221): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 338 | 0.0030 | 1228 | c.*35 others(1247): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1221): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 246 | 0.0041 | 1228 | c.-10 others(1245): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1222): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(72): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0061a0001c0001t0001g0089others(71): Show | 75 | 337 | 0.2226 | 1229 | c.179 others(1250): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1222): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0124a0001c0001t0023g0035 | 2 | 337 | 0.0059 | 1229 | c.179 others(1250): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1222): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0319 | 1 | 337 | 0.0030 | 1229 | c.179 others(1250): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1222): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0069a0001c0001t0004g0250 | 2 | 337 | 0.0059 | 1229 | c.179 others(1250): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1222): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0244 | 1 | 337 | 0.0030 | 1229 | c.179 others(1250): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(1222): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0071 | a0002c0071t0025 | a0002c0071t0025g0162 | 1 | 228 | 0.0044 | 1229 | c.259 others(1250): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(1222): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 326 | 0.0031 | 1229 | c.-13 others(1248): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAGAAAGA others(1222): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 258 | 0.0039 | 1229 | c.403 others(1244): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878183 | G | GTATATAA others(1222): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18951.hp2 NA18961.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0026others(2): Show | 7 | 208 | 0.0337 | 1229 | c.192 others(1248): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1222): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0135 | 1 | 148 | 0.0068 | 1229 | c.183 others(1248): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1222): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0078 | 1 | 148 | 0.0068 | 1229 | c.183 others(1248): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(1222): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0253 | 1 | 298 | 0.0034 | 1229 | c.126 others(1246): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |