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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRD_chr9_8309246_10618002 | 9008027 | C | CTCATCAT others(4825): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0007 | a0001c0007t0021 | a0001c0007t0021g0002 | 1 | 34 | 0.0294 | 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 | a0001c0001t0003g0129 | 1 | 264 | 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 | 200 | 0.0050 | 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 | 34 | 0.0294 | 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 | 34 | 0.1177 | 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 | a0001c0002t0007g0241 | 1 | 344 | 0.0029 | 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 | a0001c0001t0001g0222 | 1 | 370 | 0.0027 | 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 | a0003c0003t0007g0135 | 1 | 320 | 0.0031 | 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 | a0001c0001t0001g0159 a0001c0010t0002g0160 |
2 | 344 | 0.0058 | 4836 | c.127 others(4853): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(4829): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0208 | 1 | 344 | 0.0029 | 4836 | c.127 others(4853): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(4829): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0021 | 1 | 345 | 0.0029 | 4836 | c.*17 others(4847): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(4829): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 NA20905.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0025 a0001c0004t0001g0026 |
2 | 345 | 0.0058 | 4836 | c.*17 others(4847): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(4829): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0027 | 1 | 345 | 0.0029 | 4836 | c.*17 others(4847): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(4829): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 1 | 421 | 0.0024 | 4836 | c.*22 others(4847): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(4829): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0003 | 1 | 421 | 0.0024 | 4836 | c.*22 others(4847): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(4829): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 421 | 0.0024 | 4836 | c.*22 others(4847): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(4829): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 421 | 0.0024 | 4836 | c.*22 others(4847): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(4830): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0044 | 1 | 344 | 0.0029 | 4837 | c.127 others(4854): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OSBPL6_chr2_178189512_178407893 | 178307597 | A | ATGGAAGC others(4830): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0159 | 1 | 200 | 0.0050 | 4837 | c.102 others(4854): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
OXSR1_chr3_38160537_38260484 | 38212101 | T | TGGCATTG others(4830): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18989.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0004g0246 |
3 | 248 | 0.0121 | 4837 | c.435 others(4854): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4831): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 268 | 0.0037 | 4838 | c.136 others(4855): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4831): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 268 | 0.0037 | 4838 | c.136 others(4855): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964808 | A | ATGGAAAG others(4831): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0142 | 1 | 268 | 0.0037 | 4838 | c.136 others(4855): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(4831): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0260 | 1 | 268 | 0.0037 | 4838 | c.139 others(4859): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTLL9_chr20_31865634_31950000 | 31889980 | T | TTCTTTCT others(4831): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 264 | 0.0038 | 4838 | c.113 others(4855): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(4832): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 a0001c0001t0002g0143 |
2 | 342 | 0.0059 | 4839 | c.366 others(4856): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4832): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0201 | 1 | 251 | 0.0040 | 4839 | c.-45 others(4848): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38212101 | T | TGGCATTG others(4832): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 248 | 0.0040 | 4839 | c.435 others(4856): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TTLL9_chr20_31865634_31950000 | 31889984 | T | TTCTTTCT others(4832): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 264 | 0.0038 | 4839 | c.113 others(4856): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(4833): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0255 | 1 | 268 | 0.0037 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG01346.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0185 a0001c0001t0001g0226 others(2): Show |
5 | 268 | 0.0187 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01978.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0005 | a0001c0001t0003g0097 a0002c0003t0005g0258 |
2 | 268 | 0.0075 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 268 | 0.0037 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 268 | 0.0037 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0121 | 1 | 268 | 0.0037 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 268 | 0.0037 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00597.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(5): Show | a0001c0001t0001g0022 a0001c0001t0001g0076 a0001c0001t0001g0090 others(24): Show |
27 | 268 | 0.1008 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18949.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0014 a0001c0002t0002g0038 |
2 | 268 | 0.0075 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02056.hp2 HG03831.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0002t0001g0024 others(7): Show |
10 | 268 | 0.0373 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03098.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0001 | a0001c0001t0002g0162 a0004c0005t0001g0165 |
2 | 268 | 0.0075 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0222 | 1 | 268 | 0.0037 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0110 | 1 | 268 | 0.0037 | 4840 | c.139 others(4861): 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(4833): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0179 | 1 | 268 | 0.0037 | 4840 | c.139 others(4861): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(4834): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 421 | 0.0024 | 4841 | c.*22 others(4852): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(4834): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0040 | 1 | 268 | 0.0037 | 4841 | c.139 others(4862): 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(4834): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0250 | 1 | 268 | 0.0037 | 4841 | c.139 others(4862): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTLL9_chr20_31865634_31950000 | 31890079 | G | GCTTTCTT others(4834): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 264 | 0.0038 | 4841 | c.113 others(4858): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289847 | G | GTCTCTGC others(4835): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 295 | 0.0034 | 4842 | c.*37 others(4853): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2543 | chr1 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4835): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0294 a0001c0001t0016g0296 |
2 | 328 | 0.0061 | 4842 | c.225 others(4859): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar |