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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABR_chr17_998519_1184981 | 1064625 | T | TTGTTTAC others(458): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0007 | a0007c0009 | a0007c0009t0006 | a0007c0009t0006g0090 | 1 | 337 | 0.0030 | 465 | c.118 others(484): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(458): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 352 | 0.0028 | 465 | c.*51 others(476): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3037056 | T | TATAATAT others(458): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 193 | 0.0052 | 465 | c.-46 others(476): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4414 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3037056 | T | TATAATAT others(458): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 248 | 0.0040 | 465 | c.*36 others(476): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2946 | chrX | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(458): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0239 | 1 | 254 | 0.0039 | 465 | c.39+ others(482): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BRD3OS_chr9_134020481_134036587 | 134025265 | T | TCCAGCCC others(458): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0001 | 1 | 334 | 0.0030 | 465 | c.-10 others(476): Show |
BRD3OS | ENSG00000235106.10 | transcript | ENST00000603928.3 | protein_coding | 215 | chr9 | TogoVar | |||||||
C1QTNF12_chr1_1237453_1251722 | 1245158 | C | CCTCTGCC others(458): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0021 | a0021c0039 | a0021c0039t0005 | a0021c0039t0005g0039 | 1 | 328 | 0.0031 | 465 | c.178 others(480): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279137 | A | AGGGACGG others(458): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 410 | 0.0024 | 465 | c.465 others(478): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(458): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 256 | 0.0039 | 465 | c.-45 others(486): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(458): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0005 | 1 | 256 | 0.0039 | 465 | c.-45 others(486): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71420464 | A | ATGATGGT others(458): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 NA18906.hp1 |
a0066a0080a0093 | a0066c0056a0080c0050a0093c0067 | a0066c0056t0001a0080c0050t0001a0093c0067t0007 | a0066c0056t0001g0179 a0080c0050t0001g0180 a0093c0067t0007g0177 |
3 | 196 | 0.0153 | 465 | c.-5- others(482): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71420464 | A | ATGATGGT others(458): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 |
a0049a0068 | a0049c0164a0068c0156 | a0049c0164t0013a0068c0156t0008 | a0049c0164t0013g0033 a0068c0156t0008g0031 |
2 | 196 | 0.0102 | 465 | c.-5- others(482): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881962 | C | CTATATAG others(458): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 440 | 0.0023 | 465 | c.*12 others(476): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 316 | chr13 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647984 | G | GGACCCAG others(458): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0054 | 1 | 392 | 0.0026 | 465 | c.253 others(480): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19202514 | A | ATCACGGC others(458): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01256.hp1 HG01258.hp1 |
a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0012 a0004c0006t0005g0013 a0004c0006t0005g0014 |
3 | 346 | 0.0087 | 465 | c.360 others(484): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098448 | T | TAAATATA others(458): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0061 | 1 | 264 | 0.0038 | 465 | c.181 others(484): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585737 | C | CCTGGATG others(458): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0217 | 1 | 236 | 0.0042 | 465 | c.294 others(482): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255884 | A | AAGGGGGA others(458): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0062 | a0001c0062t0001 | a0001c0062t0001g0017 | 1 | 344 | 0.0029 | 465 | c.85- others(482): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89597938 | C | CCCCCGCC others(458): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 348 | 0.0029 | 465 | c.*13 others(476): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 693 | chr16 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1284626 | C | CGAGATCT others(458): Show |
intron_variant | MODIFIER | HG01981.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0102 a0001c0001t0008g0120 |
2 | 159 | 0.0126 | 465 | c.77- others(480): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284661 | T | TTTTTTTT others(458): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03516.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0002a0002c0004t0005 | a0002c0003t0002g0140 a0002c0004t0005g0127 |
2 | 159 | 0.0126 | 465 | c.77- others(480): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284661 | T | TTTTTTTT others(458): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02155.hp2 HG03831.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0002t0001g0052 others(2): Show |
5 | 159 | 0.0315 | 465 | c.77- others(480): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284704 | T | TCCCAGGC others(458): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03516.hp1 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0010 a0002c0003t0005g0137 |
2 | 159 | 0.0126 | 465 | c.77- others(480): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284738 | C | CACTGCAG others(458): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00639.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 others(19): Show |
22 | 159 | 0.1384 | 465 | c.77- others(480): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(458): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0072 | 1 | 216 | 0.0046 | 465 | c.923 others(484): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251056 | T | TCCCCCAC others(458): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 116 | 0.0086 | 465 | c.207 others(484): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(458): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 367 | 0.0027 | 465 | c.-42 others(476): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 346423 | C | CGCATAGT others(458): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 88 | 0.0114 | 465 | c.323 others(484): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | |||||||
DNTTIP1_chr20_45786954_45816418 | 45799810 | T | TAAAAGAA others(458): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01106.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0174 others(3): Show |
8 | 412 | 0.0194 | 465 | c.373 others(482): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400097 | C | CCACCACC others(458): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0047 | a0047c0048 | a0047c0048t0008 | a0047c0048t0008g0012 | 1 | 256 | 0.0039 | 465 | c.323 others(482): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400247 | C | CCATCACC others(458): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02145.hp2 others(4): Show |
a0013a0014a0019others(2): Show | a0013c0094a0014c0018a0014c0069others(3): Show | a0013c0094t0001a0014c0018t0002a0014c0069t0002others(3): Show | a0013c0094t0001g0095 a0014c0018t0002g0007 a0014c0018t0002g0011 others(4): Show |
7 | 256 | 0.0273 | 465 | c.323 others(482): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400604 | A | ACCACCAC others(458): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0006 | a0006c0025 | a0006c0025t0001 | a0006c0025t0001g0186 | 1 | 256 | 0.0039 | 465 | c.323 others(484): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634876 | C | CTCCTTTC others(458): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 250 | 0.0040 | 465 | c.105 others(482): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716115 | T | TGGGGGAG others(458): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01346.hp2 |
a0001a0006 | a0001c0002a0006c0021 | a0001c0002t0001a0006c0021t0001 | a0001c0002t0001g0003 a0001c0002t0001g0017 a0006c0021t0001g0016 |
3 | 170 | 0.0177 | 465 | c.86- others(478): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716419 | T | TTGGTGTC others(458): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0011 | a0011c0031 | a0011c0031t0001 | a0011c0031t0001g0167 | 1 | 170 | 0.0059 | 465 | c.86- others(478): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946605 | T | TATATGAA others(458): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG01516.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0240 a0001c0001t0001g0264 a0001c0001t0001g0268 others(5): Show |
8 | 344 | 0.0233 | 465 | c.617 others(482): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 59986774 | A | ATATATTT others(458): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0004 | 1 | 46 | 0.0217 | 465 | c.279 others(484): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
GADD45B_chr19_2471127_2483257 | 2480930 | A | ACCTGTAG others(458): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 460 | 0.0044 | 465 | c.*33 others(476): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2674 | chr19 | TogoVar | |||||||
GADD45B_chr19_2471127_2483257 | 2480930 | A | ACCTGTAG others(458): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 460 | 0.0044 | 465 | c.*33 others(476): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2674 | chr19 | TogoVar | |||||||
GADD45B_chr19_2471127_2483257 | 2480930 | A | ACCTGTAG others(458): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(15): Show |
240 | 460 | 0.5217 | 465 | c.*33 others(476): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2674 | chr19 | TogoVar | |||||||
GADD45B_chr19_2471127_2483257 | 2480930 | A | ACCTGTAG others(458): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 460 | 0.0022 | 465 | c.*33 others(476): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2674 | chr19 | TogoVar | |||||||
GADD45B_chr19_2471127_2483257 | 2480930 | A | ACCTGTAG others(458): Show |
downstream_gene_variant | MODIFIER | NA18982.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 2 | 460 | 0.0044 | 465 | c.*33 others(476): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2674 | chr19 | TogoVar | |||||||
GADD45B_chr19_2471127_2483257 | 2480930 | A | ACCTGTAG others(458): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 460 | 0.0022 | 465 | c.*33 others(476): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2674 | chr19 | TogoVar | |||||||
GADD45B_chr19_2471127_2483257 | 2480930 | A | ACCTGTAG others(458): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(193): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(20): Show |
196 | 460 | 0.4261 | 465 | c.*33 others(476): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2674 | chr19 | TogoVar | |||||||
GADD45B_chr19_2471127_2483257 | 2480930 | A | ACCTGTAG others(458): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 460 | 0.0022 | 465 | c.*33 others(476): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2674 | chr19 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805244 | A | ACCCTCCC others(458): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 314 | 0.0032 | 465 | c.*10 others(476): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 958 | chr2 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218085 | C | CCCCCACA others(458): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0004 | 1 | 106 | 0.0094 | 465 | c.*25 others(476): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 916 | chr8 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53074425 | T | TATATATT others(458): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 208 | 0.0048 | 465 | c.-97 others(482): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRIN2A_chr16_9748408_10187428 | 9848749 | T | TTTTAAAT others(458): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0047 | 1 | 168 | 0.0060 | 465 | c.132 others(484): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 5/12 | chr16 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315827 | C | CACACAAA others(458): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 155 | 0.0065 | 465 | c.488 others(480): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar |