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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5211): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0191 | 1 | 251 | 0.0040 | 5218 | c.-45 others(5227): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(5211): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0008 | 1 | 44 | 0.0227 | 5218 | c.296 others(5235): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298810 | C | CGTGGACA others(5212): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0107 | a0001c0003t0107g0104 | 1 | 176 | 0.0057 | 5219 | c.734 others(5234): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(5212): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0031 | 1 | 44 | 0.0227 | 5219 | c.296 others(5236): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5213): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0084 | 1 | 104 | 0.0096 | 5220 | c.477 others(5241): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5213): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0002 | 1 | 104 | 0.0096 | 5220 | c.477 others(5241): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432102 | C | CAGGGTGG others(5213): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0011 | a0011c0012 | a0011c0012t0002 | a0011c0012t0002g0117 | 1 | 376 | 0.0027 | 5220 | c.101 others(5237): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(5213): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0178 | 1 | 376 | 0.0027 | 5220 | c.101 others(5237): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(5214): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01496.hp2 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0254 a0003c0003t0004g0258 |
2 | 274 | 0.0073 | 5221 | c.179 others(5240): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(5215): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0024 | 1 | 56 | 0.0179 | 5222 | c.135 others(5239): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5216): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0028 | 1 | 50 | 0.0200 | 5223 | c.287 others(5242): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5217): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 251 | 0.0040 | 5224 | c.-45 others(5233): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5218): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0033 | 1 | 318 | 0.0031 | 5225 | c.225 others(5242): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5219): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0034 | 1 | 318 | 0.0031 | 5226 | c.225 others(5243): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5219): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0010 | a0001c0010t0039 | a0001c0010t0039g0225 | 1 | 318 | 0.0031 | 5226 | c.225 others(5243): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(5221): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 318 | 0.0031 | 5228 | c.225 others(5245): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947906 | T | TTGGTGGT others(5222): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0008 | a0001c0008t0014 | a0001c0008t0014g0072 | 1 | 136 | 0.0074 | 5229 | c.47- others(5246): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5222): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0005 | a0005c0068 | a0005c0068t0001 | a0005c0068t0001g0088 | 1 | 282 | 0.0036 | 5229 | c.299 others(5244): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGATGG others(5222): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0087 | 1 | 376 | 0.0027 | 5229 | c.101 others(5246): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5224): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0025 | a0025c0033 | a0025c0033t0001 | a0025c0033t0001g0195 | 1 | 224 | 0.0045 | 5231 | c.188 others(5250): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CCCTCCCT others(5224): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 227 | 0.0044 | 5231 | c.*23 others(5242): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5225): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 224 | 0.0045 | 5232 | c.188 others(5251): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5225): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0097 | 1 | 224 | 0.0045 | 5232 | c.188 others(5251): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5225): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0058 | 1 | 224 | 0.0045 | 5232 | c.188 others(5251): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CCCTCCCT others(5225): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 223 | 0.0045 | 5232 | c.-42 others(5243): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5225): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 344 | 0.0029 | 5232 | c.327 others(5249): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5225): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | 344 | 0.0058 | 5232 | c.327 others(5249): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5225): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 344 | 0.0029 | 5232 | c.327 others(5249): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5225): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01123.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0148 a0001c0001t0001g0149 others(1): Show |
4 | 344 | 0.0116 | 5232 | c.327 others(5249): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5225): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 344 | 0.0029 | 5232 | c.327 others(5249): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5225): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 344 | 0.0029 | 5232 | c.327 others(5249): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0034 | a0004c0034t0025 | a0004c0034t0025g0194 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0189 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG03942.hp1 NA19060.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0096 a0002c0002t0003g0152 |
2 | 224 | 0.0089 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG01978.hp1 HG01993.hp2 HG02293.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0005others(4): Show | a0001c0001t0001g0029 a0001c0001t0004g0066 a0001c0003t0005g0077 others(6): Show |
9 | 224 | 0.0402 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0115 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG01069.hp1 others(35): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0027 others(35): Show |
38 | 224 | 0.1696 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0008 | a0008c0045 | a0008c0045t0008 | a0008c0045t0008g0085 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02071.hp1 HG02165.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0004t0002others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0072 a0001c0001t0001g0082 others(6): Show |
9 | 224 | 0.0402 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0074 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0036 | a0001c0036t0004 | a0001c0036t0004g0012 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0121 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18970.hp1 NA19066.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0073 a0001c0001t0001g0138 a0002c0002t0002g0019 |
3 | 224 | 0.0134 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0007 | a0004c0007t0014 | a0004c0007t0014g0113 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0102 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0025 | a0001c0025t0012 | a0001c0025t0012g0217 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0003a0001c0001t0015a0001c0018t0008 | a0001c0001t0003g0198 a0001c0001t0015g0044 a0001c0001t0015g0046 others(1): Show |
4 | 224 | 0.0179 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0154 | 1 | 224 | 0.0045 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar |