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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HNRNPCL1_chr1_12842377_12853720 | 12847054 | A | ACACCACA others(4818): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG02071.hp2 HG03927.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0004 | 6 | 337 | 0.0178 | 4825 | c.*35 others(4834): Show |
HNRNPCL1 | ENSG00000179172.10 | transcript | ENST00000317869.7 | protein_coding | 322 | chr1 | TogoVar | |||||||
HNRNPCL1_chr1_12842377_12853720 | 12847054 | A | ACACCACA others(4818): Show |
downstream_gene_variant | MODIFIER | NA18940.hp2 NA18971.hp1 NA18995.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0009 | a0003c0003t0004g0004 a0003c0003t0009g0017 |
7 | 338 | 0.0207 | 4825 | c.*35 others(4834): Show |
HNRNPCL1 | ENSG00000179172.10 | transcript | ENST00000317869.7 | protein_coding | 322 | chr1 | TogoVar | |||||||
HNRNPCL1_chr1_12842377_12853720 | 12847054 | A | ACACCACA others(4818): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0004 | 1 | 332 | 0.0030 | 4825 | c.*35 others(4834): Show |
HNRNPCL1 | ENSG00000179172.10 | transcript | ENST00000317869.7 | protein_coding | 322 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4818): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 3 | 0.3333 | 4825 | c.-34 others(4840): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4819): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 56 | 0.0357 | 4826 | c.891 others(4841): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(4819): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 42 | 0.0238 | 4826 | c.139 others(4847): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(4819): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 42 | 0.0238 | 4826 | c.139 others(4847): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(4819): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 42 | 0.0238 | 4826 | c.139 others(4847): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(4819): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0143 | 1 | 42 | 0.0238 | 4826 | c.139 others(4847): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(4819): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03195.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0130 a0001c0001t0001g0180 a0001c0002t0001g0124 |
3 | 44 | 0.0682 | 4826 | c.139 others(4847): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(4819): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 42 | 0.0238 | 4826 | c.139 others(4847): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693675 | A | ACCACCTC others(4820): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 155 | 0.0065 | 4827 | c.*67 others(4838): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4971 | chr20 | TogoVar | |||||||
HNRNPCL1_chr1_12842377_12853720 | 12847054 | A | ACACCACA others(4820): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0004 | 1 | 332 | 0.0030 | 4827 | c.*35 others(4836): Show |
HNRNPCL1 | ENSG00000179172.10 | transcript | ENST00000317869.7 | protein_coding | 322 | chr1 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4821): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0198 | 1 | 23 | 0.0435 | 4828 | c.137 others(4845): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 965201 | T | TCCCAGAT others(4821): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0012 | a0001c0002t0002g0001 a0001c0002t0002g0139 a0001c0002t0002g0140 others(1): Show |
4 | 242 | 0.0165 | 4828 | c.137 others(4845): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 965201 | T | TCCCAGAT others(4821): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0219 | 1 | 239 | 0.0042 | 4828 | c.137 others(4845): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4821): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02155.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0124 |
3 | 57 | 0.0526 | 4828 | c.891 others(4843): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4821): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02148.hp2 NA18963.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0108 a0001c0001t0001g0133 |
4 | 58 | 0.0690 | 4828 | c.891 others(4843): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4821): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 55 | 0.0182 | 4828 | c.891 others(4843): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4821): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 55 | 0.0182 | 4828 | c.891 others(4843): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4821): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 55 | 0.0182 | 4828 | c.891 others(4843): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4821): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 55 | 0.0182 | 4828 | c.891 others(4843): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(4821): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0023 | a0023c0022 | a0023c0022t0037 | a0023c0022t0037g0004 | 1 | 32 | 0.0313 | 4828 | c.218 others(4843): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4822): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 29 | 0.0345 | 4829 | c.109 others(4844): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4822): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 55 | 0.0182 | 4829 | c.891 others(4844): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4822): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 55 | 0.0182 | 4829 | c.891 others(4844): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4822): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 55 | 0.0182 | 4829 | c.891 others(4844): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4822): Show |
intron_variant | MODIFIER | HG00408.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0090 |
2 | 56 | 0.0357 | 4829 | c.891 others(4844): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4822): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 55 | 0.0182 | 4829 | c.891 others(4844): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4822): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 55 | 0.0182 | 4829 | c.891 others(4844): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4822): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 8 | 0.1250 | 4829 | c.-45 others(4838): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111767 | A | ACACCTCC others(4823): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0117 | 1 | 172 | 0.0058 | 4830 | c.401 others(4847): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045949 | C | TCAACACC others(4823): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 368 | 0.0027 | 4830 | c.109 others(4845): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(4823): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 192 | 0.0052 | 4830 | c.215 others(4847): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(4823): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 192 | 0.0052 | 4830 | c.215 others(4847): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4823): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0015 | a0015c0036 | a0015c0036t0001 | a0015c0036t0001g0111 | 1 | 13 | 0.0769 | 4830 | c.215 others(4847): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4823): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 13 | 0.0769 | 4830 | c.215 others(4847): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 9008027 | C | CTCATCAT others(4823): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 18 | 0.0556 | 4830 | c.-10 others(4851): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4824): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 55 | 0.0182 | 4831 | c.891 others(4846): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9008027 | C | CTCATCAT others(4824): Show |
intron_variant | MODIFIER | HG01099.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0015 | a0001c0001t0002g0013 a0001c0002t0015g0010 |
2 | 19 | 0.1053 | 4831 | c.-10 others(4852): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9008027 | C | CTCATCAT others(4825): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0007 | a0001c0007t0021 | a0001c0007t0021g0002 | 1 | 18 | 0.0556 | 4832 | c.-10 others(4853): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
TTLL9_chr20_31865634_31950000 | 31889984 | T | TTCTTTCT others(4825): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 | 1 | 261 | 0.0038 | 4832 | c.113 others(4849): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OSBPL6_chr2_178189512_178407893 | 178307597 | A | ATGGAAGC others(4826): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0003 | a0002c0003t0053 | a0002c0003t0053g0161 | 1 | 190 | 0.0053 | 4833 | c.102 others(4850): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 9008027 | C | CTCATCAT others(4826): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0015 | a0002c0015t0010 | a0002c0015t0010g0026 | 1 | 18 | 0.0556 | 4833 | c.-10 others(4854): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9008027 | C | CTCATCAT others(4826): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02683.hp1 others(1): Show |
a0001 | a0001c0006a0001c0010a0001c0012others(1): Show | a0001c0006t0026a0001c0010t0017a0001c0012t0016others(1): Show | a0001c0006t0026g0034 a0001c0010t0017g0016 a0001c0012t0016g0028 others(1): Show |
4 | 21 | 0.1905 | 4833 | c.-10 others(4854): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9008024 | T | TAAATCAT others(4827): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0001 | 1 | 34 | 0.0294 | 4834 | c.-10 others(4855): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(4828): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0239 | 1 | 173 | 0.0058 | 4835 | c.127 others(4852): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4828): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 55 | 0.0182 | 4835 | c.891 others(4850): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CRACR2A_chr12_3610328_3758109 | 3745780 | A | AAAAATAA others(4828): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0121 | 1 | 130 | 0.0077 | 4835 | c.-38 others(4854): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(4829): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0002 | a0001c0001t0001g0157 a0001c0010t0002g0158 |
2 | 174 | 0.0115 | 4836 | c.127 others(4853): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |