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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4205): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0040 | 1 | 7 | 0.1429 | 4212 | c.507 others(4229): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4205): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0031 | 1 | 7 | 0.1429 | 4212 | c.507 others(4229): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4205): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0133 | 1 | 7 | 0.1429 | 4212 | c.507 others(4229): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4205): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0140 | 1 | 7 | 0.1429 | 4212 | c.507 others(4229): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4205): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020a0001c0001t0052 | a0001c0001t0006g0021 a0001c0001t0020g0020 a0001c0001t0052g0062 |
3 | 9 | 0.3333 | 4212 | c.507 others(4229): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458540 | C | CCACAGGG others(4205): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0081 | 1 | 269 | 0.0037 | 4212 | c.715 others(4229): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431922 | T | TAGGGTGG others(4205): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0274 | 1 | 327 | 0.0031 | 4212 | c.101 others(4231): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4205): Show |
intron_variant | MODIFIER | NA18992.hp2 NA18998.hp1 NA19074.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 |
3 | 251 | 0.0120 | 4212 | c.161 others(4231): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4205): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0323 | 1 | 249 | 0.0040 | 4212 | c.161 others(4231): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065137 | G | GCTGTTGT others(4207): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0106 | 1 | 231 | 0.0043 | 4214 | c.118 others(4233): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(4207): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0260 | 1 | 251 | 0.0040 | 4214 | c.955 others(4231): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4207): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0051a0001c0002t0002 | a0001c0001t0051g0126 a0001c0002t0002g0128 |
2 | 8 | 0.2500 | 4214 | c.507 others(4231): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4207): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0005 | 1 | 7 | 0.1429 | 4214 | c.507 others(4231): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4207): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0103 | 1 | 7 | 0.1429 | 4214 | c.507 others(4231): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4207): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02572.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0026 | a0001c0001t0007g0046 a0001c0001t0012g0122 a0001c0001t0026g0061 |
3 | 9 | 0.3333 | 4214 | c.507 others(4231): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4207): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0053 | 1 | 7 | 0.1429 | 4214 | c.507 others(4231): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4207): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0133 | 1 | 34 | 0.0294 | 4214 | c.299 others(4229): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RHOJ_chr14_63199443_63298508 | 63273783 | T | TGAAAATG others(4207): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0254 | 1 | 318 | 0.0031 | 4214 | c.237 others(4231): Show |
RHOJ | ENSG00000126785.13 | transcript | ENST00000316754.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(4208): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0020 | 1 | 23 | 0.0435 | 4215 | c.284 others(4234): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4209): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0144 | 1 | 7 | 0.1429 | 4216 | c.507 others(4233): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4209): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0033 | 1 | 7 | 0.1429 | 4216 | c.507 others(4233): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4209): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0036 | a0001c0001t0035g0058 a0001c0001t0036g0069 |
2 | 8 | 0.2500 | 4216 | c.507 others(4233): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4209): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0022 | 1 | 8 | 0.1250 | 4216 | c.-45 others(4225): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GACAGCCA others(4210): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 | 1 | 198 | 0.0051 | 4217 | c.340 others(4234): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4211): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0010 | 1 | 7 | 0.1429 | 4218 | c.507 others(4235): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4211): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 7 | 0.1429 | 4218 | c.507 others(4235): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4211): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0100 | 1 | 7 | 0.1429 | 4218 | c.507 others(4235): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92329738 | G | GACTTTAG others(4211): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0117 | 1 | 7 | 0.1429 | 4218 | c.-17 others(4237): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77452831 | T | TAAATACC others(4213): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0215 | 1 | 281 | 0.0036 | 4220 | c.106 others(4241): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4213): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0125 | 1 | 7 | 0.1429 | 4220 | c.507 others(4237): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4213): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0072 | 1 | 7 | 0.1429 | 4220 | c.507 others(4237): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4213): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0108 | 1 | 7 | 0.1429 | 4220 | c.507 others(4237): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4213): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0050 | 1 | 7 | 0.1429 | 4220 | c.507 others(4237): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654429 | A | GTCCTCAC others(4214): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02965.hp2 |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0107 a0002c0004t0002g0106 |
2 | 165 | 0.0121 | 4221 | c.-52 others(4238): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4214): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 4221 | c.-45 others(4230): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(4214): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 317 | 0.0032 | 4221 | c.114 others(4238): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4215): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0035 | 1 | 7 | 0.1429 | 4222 | c.507 others(4239): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4215): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0008 | a0003c0008t0006 | a0003c0008t0006g0045 | 1 | 7 | 0.1429 | 4222 | c.507 others(4239): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(4215): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0095 | 1 | 158 | 0.0063 | 4222 | c.126 others(4239): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(4215): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 73 | 0.0137 | 4222 | c.162 others(4241): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4215): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0149 | 1 | 8 | 0.1250 | 4222 | c.-45 others(4231): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(4216): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 73 | 0.0137 | 4223 | c.162 others(4242): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77452831 | T | TAAATACC others(4217): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 281 | 0.0036 | 4224 | c.106 others(4245): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4219): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0009 | 1 | 7 | 0.1429 | 4226 | c.507 others(4243): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4219): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 7 | 0.1429 | 4226 | c.507 others(4243): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4219): Show |
intron_variant | MODIFIER | HG02132.hp2 NA19030.hp2 |
a0002 | a0002c0004 | a0002c0004t0014a0002c0004t0016 | a0002c0004t0014g0114 a0002c0004t0016g0041 |
2 | 8 | 0.2500 | 4226 | c.507 others(4243): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811268 | C | CCCTTCCT others(4219): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0153 | 1 | 170 | 0.0059 | 4226 | c.773 others(4241): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4221): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 7 | 0.1429 | 4228 | c.507 others(4245): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4221): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0076 | 1 | 7 | 0.1429 | 4228 | c.507 others(4245): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4221): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0093 | 1 | 7 | 0.1429 | 4228 | c.507 others(4245): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |