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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYP4F11_chr19_15907377_15939529 | 15932485 | G | GAGAGGAG others(193): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0001 | a0002c0001t0083 | a0002c0001t0083g0147 | 1 | 340 | 0.0029 | 200 | c.198 others(217): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932705 | G | GAGAGGAG others(193): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0200 | 1 | 353 | 0.0028 | 200 | c.198 others(217): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932725 | G | GAGAGGAG others(193): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0134 | 1 | 348 | 0.0029 | 200 | c.198 others(217): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932732 | A | ATGAGTGA others(193): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0001 | a0002c0001t0017 | a0002c0001t0017g0146 | 1 | 373 | 0.0027 | 200 | c.198 others(217): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932925 | G | GAGAGGAG others(193): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0198 | 1 | 332 | 0.0030 | 200 | c.198 others(217): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933072 | A | ATGAGTGA others(193): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0328 | 1 | 369 | 0.0027 | 200 | c.198 others(217): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933173 | T | TGAGTGAG others(193): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0341 | 1 | 381 | 0.0026 | 200 | c.198 others(217): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933185 | G | GAGAGGAG others(193): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0001 | a0002c0001t0032 | a0002c0001t0032g0349 | 1 | 325 | 0.0031 | 200 | c.198 others(217): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933405 | G | GAGAGGAA others(193): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0047 | a0001c0002t0047g0227 | 1 | 340 | 0.0029 | 200 | c.198 others(215): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933481 | T | TGGGCAGA others(193): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0006 | a0001c0006t0096 | a0001c0006t0096g0124 | 1 | 217 | 0.0046 | 200 | c.198 others(215): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933483 | A | AGAAGAGG others(193): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0001 | a0002c0001t0057 | a0002c0001t0057g0308 | 1 | 236 | 0.0042 | 200 | c.198 others(215): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933492 | A | ATGAGTGA others(193): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0001 | a0002c0001t0084 | a0002c0001t0084g0154 | 1 | 381 | 0.0026 | 200 | c.198 others(215): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933981 | C | CGAGGAGA others(193): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18991.hp2 NA19066.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0018a0001c0002t0120 | a0001c0002t0005g0302 a0001c0002t0005g0361 a0001c0002t0018g0008 others(1): Show |
4 | 313 | 0.0128 | 200 | c.198 others(215): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933981 | C | CGAGGAGA others(193): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0301 | 1 | 310 | 0.0032 | 200 | c.198 others(215): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933981 | C | CGGGGAGA others(193): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0333 | 1 | 310 | 0.0032 | 200 | c.198 others(215): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241766155 | G | GTTGGGGA others(193): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0023 | 1 | 406 | 0.0025 | 200 | c.130 others(219): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241767158 | G | GGGGAGAT others(193): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0005 | a0004c0005t0050 | a0004c0005t0050g0075 | 1 | 410 | 0.0024 | 200 | c.130 others(217): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241767197 | G | GGGGGGAA others(193): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0349 | 1 | 408 | 0.0025 | 200 | c.130 others(217): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90008331 | A | ACCCCCCA others(193): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0092 | 1 | 365 | 0.0027 | 200 | c.319 others(215): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
DBNL_chr7_44039702_44074456 | 44043563 | A | ATGTGTGT others(193): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 | 1 | 282 | 0.0035 | 200 | c.-11 others(211): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1138 | chr7 | TogoVar | |||||||
DEPDC1B_chr5_60591912_60705166 | 60668158 | A | ATTTTATA others(193): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 226 | 0.0044 | 200 | c.314 others(219): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313660 | G | GCGCCTCC others(193): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 299 | 0.0033 | 200 | c.*28 others(211): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 923 | chr8 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313660 | G | GCGCCTCC others(193): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 299 | 0.0033 | 200 | c.*28 others(211): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 923 | chr8 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2253324 | T | TTGAGCCA others(193): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01496.hp2 HG02004.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0001c0001t0001g0049 a0002c0002t0002g0005 a0002c0002t0002g0013 others(11): Show |
14 | 48 | 0.2917 | 200 | c.597 others(219): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2253423 | C | CGTGAGCC others(193): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG02922.hp2 others(1): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0013 | a0001c0001t0001a0001c0001t0012a0003c0003t0001others(1): Show | a0001c0001t0001g0022 a0001c0001t0012g0023 a0003c0003t0001g0031 others(1): Show |
4 | 48 | 0.0833 | 200 | c.597 others(219): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 748003 | T | TCTGCGGT others(193): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 39 | 0.0256 | 200 | c.18+ others(217): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78478154 | C | CCATTATC others(193): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0081 | a0003c0081t0001 | a0003c0081t0001g0024 | 1 | 227 | 0.0044 | 200 | c.799 others(217): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7765175 | T | TCATGAGA others(193): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0004 | a0004c0025 | a0004c0025t0002 | a0004c0025t0002g0019 | 1 | 260 | 0.0038 | 200 | c.333 others(217): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 20/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83145204 | A | AATATATA others(193): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18948.hp2 NA18968.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0160 others(4): Show |
7 | 57 | 0.1228 | 200 | c.554 others(217): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83145204 | A | AATATATA others(193): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0278 | 1 | 51 | 0.0196 | 200 | c.554 others(217): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83145204 | A | AATATATA others(193): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp2 |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0003a0009c0014t0003 | a0001c0001t0003g0036 a0009c0014t0003g0037 |
2 | 52 | 0.0385 | 200 | c.554 others(217): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83145206 | T | TATATATA others(193): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0128 | 1 | 284 | 0.0035 | 200 | c.554 others(217): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DR1_chr1_93340907_93374493 | 93344857 | T | TTATATAT others(193): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0073 | 1 | 254 | 0.0039 | 200 | c.-17 others(211): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 1049 | chr1 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18695427 | C | CCCCCTCC others(193): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 3 | 0.3333 | 200 | c.478 others(219): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618370 | G | GGGGGTGT others(193): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0149 | 1 | 190 | 0.0053 | 200 | c.441 others(219): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618370 | G | GGGGGTGT others(193): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0074 | a0001c0074t0001 | a0001c0074t0001g0094 | 1 | 206 | 0.0049 | 200 | c.446 others(219): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EDEM2_chr20_35110364_35152336 | 35144326 | A | ATATTATT others(193): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 330 | 0.0030 | 200 | c.258 others(215): Show |
EDEM2 | ENSG00000088298.13 | transcript | ENST00000374492.8 | protein_coding | 3/10 | chr20 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2378230 | C | CATGGAGG others(193): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0089 | 1 | 213 | 0.0047 | 200 | c.215 others(217): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21180050 | A | ATATTACA others(193): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 | 1 | 138 | 0.0072 | 200 | c.-37 others(211): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3154 | chr1 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315172 | C | CCATCCCC others(193): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0146 a0001c0001t0003g0150 |
2 | 145 | 0.0138 | 200 | c.259 others(219): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616103 | G | GATAGATA others(193): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 93 | 0.0108 | 200 | c.-21 others(221): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ERG_chr21_38375036_38503477 | 38429511 | G | GTATATAC others(193): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0030a0001c0003t0001 | a0001c0001t0001g0263 a0001c0001t0001g0286 a0001c0001t0030g0255 others(1): Show |
4 | 347 | 0.0115 | 200 | c.237 others(217): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 2/9 | chr21 | TogoVar | |||||||
EVA1C_chr21_32407706_32520387 | 32477737 | C | CCCCTCCC others(193): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 334 | 0.0030 | 200 | c.634 others(217): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329508 | T | TACACGGG others(193): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 80 | 0.0125 | 200 | c.199 others(219): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501612 | A | ATATTATA others(193): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0036 | 1 | 249 | 0.0040 | 200 | c.238 others(219): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 519441 | A | ACTCACCG others(193): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG02723.hp1 |
a0001a0004 | a0001c0001a0001c0007a0004c0009 | a0001c0001t0003a0001c0007t0003a0004c0009t0009 | a0001c0001t0003g0217 a0001c0007t0003g0171 a0004c0009t0009g0148 |
3 | 269 | 0.0112 | 200 | c.238 others(221): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 519826 | G | GCACCGAG others(193): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03669.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0064 a0001c0003t0003g0185 |
2 | 167 | 0.0120 | 200 | c.238 others(221): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 519976 | C | CCACCGAG others(193): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 260 | 0.0038 | 200 | c.238 others(221): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520626 | C | CCACCGAG others(193): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 257 | 0.0039 | 200 | c.238 others(221): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520863 | T | TGAAAACA others(193): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 265 | 0.0038 | 200 | c.238 others(221): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar |