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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDC14B_chr9_96495113_96624843 | 96602543 | C | CAAGAGAA others(6083): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 220 | 0.0046 | 6090 | c.160 others(6109): Show |
CDC14B | ENSG00000081377.17 | transcript | ENST00000375241.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
CDK14_chr7_90591321_91215590 | 90702592 | T | TTTAATTT others(6083): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0080 | 1 | 168 | 0.0060 | 6090 | c.124 others(6109): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CDK14_chr7_90591321_91215590 | 90702592 | T | TTTAATTT others(6083): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0060 a0001c0001t0004g0084 |
2 | 168 | 0.0119 | 6090 | c.124 others(6109): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6083): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 234 | 0.0043 | 6090 | c.829 others(6109): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6083): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0230 | 1 | 234 | 0.0043 | 6090 | c.829 others(6109): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6083): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 2 | 374 | 0.0054 | 6090 | c.283 others(6107): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6083): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19081.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0067a0001c0003t0009 | a0001c0001t0067g0027 a0001c0003t0009g0137 |
2 | 272 | 0.0074 | 6090 | c.22- others(6105): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6083): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0059 | a0002c0002t0059g0220 | 1 | 272 | 0.0037 | 6090 | c.22- others(6105): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6083): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0253 | 1 | 272 | 0.0037 | 6090 | c.22- others(6105): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6083): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0008 | a0008c0024 | a0008c0024t0013 | a0008c0024t0013g0008 | 1 | 272 | 0.0037 | 6090 | c.22- others(6105): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6083): Show |
intron_variant | MODIFIER | HG02258.hp1 NA21309.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0081a0005c0005t0089 | a0001c0001t0081g0246 a0005c0005t0089g0116 |
2 | 272 | 0.0074 | 6090 | c.22- others(6105): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6083): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0183 | 1 | 272 | 0.0037 | 6090 | c.22- others(6105): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
PPP4R4_chr14_94169322_94284734 | 94176613 | T | TAGAAATT others(6083): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 307 | 0.0033 | 6090 | c.191 others(6105): Show |
PPP4R4 | ENSG00000119698.12 | transcript | ENST00000304338.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SLC22A15_chr1_115971513_116075054 | 116005396 | T | TCTCCATA others(6083): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0237 | 1 | 308 | 0.0033 | 6090 | c.300 others(6109): Show |
SLC22A15 | ENSG00000163393.13 | transcript | ENST00000369503.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TENM1_chrX_124370903_125209312 | 124787395 | G | GCTATACA others(6083): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0008 | a0008c0009 | a0008c0009t0027 | a0008c0009t0027g0140 | 1 | 140 | 0.0071 | 6090 | c.536 others(6109): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 6/34 | chrX | TogoVar | |||||||
ZRANB2_chr1_71058291_71086035 | 71072413 | T | TAAGAATT others(6083): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 434 | 0.0023 | 6090 | c.378 others(6103): Show |
ZRANB2 | ENSG00000132485.14 | transcript | ENST00000370920.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18560891 | T | TCTCTTTT others(6084): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18957.hp2 NA18986.hp2 |
a0001a0004 | a0001c0008a0001c0010a0004c0015 | a0001c0008t0004a0001c0010t0004a0004c0015t0025 | a0001c0008t0004g0133 a0001c0010t0004g0150 a0004c0015t0025g0037 |
3 | 218 | 0.0138 | 6091 | c.238 others(6110): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90243277 | T | TAAAGGTT others(6084): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0002 | a0001c0002t0103 | a0001c0002t0103g0105 | 1 | 194 | 0.0052 | 6091 | c.-27 others(6110): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15602929 | T | TAAGAATA others(6084): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0157 | 1 | 220 | 0.0046 | 6091 | c.211 others(6110): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 20/29 | chr10 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6084): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0095 | 1 | 374 | 0.0027 | 6091 | c.283 others(6108): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6084): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 374 | 0.0027 | 6091 | c.283 others(6108): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6084): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19005.hp2 |
a0002a0011 | a0002c0008a0011c0013 | a0002c0008t0002a0011c0013t0072 | a0002c0008t0002g0062 a0011c0013t0072g0066 |
2 | 272 | 0.0074 | 6091 | c.22- others(6106): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6084): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0011 | a0011c0013 | a0011c0013t0055 | a0011c0013t0055g0067 | 1 | 272 | 0.0037 | 6091 | c.22- others(6106): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6084): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0145 | a0002c0002t0145g0222 | 1 | 272 | 0.0037 | 6091 | c.22- others(6106): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6084): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0011 | a0011c0073 | a0011c0073t0054 | a0011c0073t0054g0076 | 1 | 272 | 0.0037 | 6091 | c.22- others(6106): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6084): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02523.hp2 NA18954.hp1 others(6): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0062others(6): Show | a0001c0001t0001g0099 a0001c0001t0005g0140 a0001c0001t0062g0048 others(6): Show |
9 | 272 | 0.0331 | 6091 | c.22- others(6106): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
SLC22A15_chr1_115971513_116075054 | 116005396 | T | TCTCCATA others(6084): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0236 | 1 | 308 | 0.0033 | 6091 | c.300 others(6110): Show |
SLC22A15 | ENSG00000163393.13 | transcript | ENST00000369503.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC22A15_chr1_115971513_116075054 | 116005396 | T | TCTCCATA others(6084): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02897.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 others(1): Show |
4 | 308 | 0.0130 | 6091 | c.300 others(6110): Show |
SLC22A15 | ENSG00000163393.13 | transcript | ENST00000369503.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TENM1_chrX_124370903_125209312 | 124787395 | G | GCTATACA others(6084): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0006 | a0006c0013 | a0006c0013t0026 | a0006c0013t0026g0139 | 1 | 140 | 0.0071 | 6091 | c.536 others(6110): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 6/34 | chrX | TogoVar | |||||||
TMEM140_chr7_135143072_135171215 | 135160150 | T | TAAAAAGA others(6084): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0068 | 1 | 388 | 0.0026 | 6091 | c.-24 others(6108): Show |
TMEM140 | ENSG00000146859.6 | transcript | ENST00000275767.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18560891 | T | TCTCTTTT others(6085): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0131 | 1 | 218 | 0.0046 | 6092 | c.238 others(6111): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18560891 | T | TCTCTTTT others(6085): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0003 | a0003c0019 | a0003c0019t0006 | a0003c0019t0006g0143 | 1 | 218 | 0.0046 | 6092 | c.238 others(6111): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18560891 | T | TCTCTTTT others(6085): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18968.hp1 |
a0001a0002 | a0001c0008a0002c0001 | a0001c0008t0004a0002c0001t0004 | a0001c0008t0004g0134 a0002c0001t0004g0036 |
2 | 218 | 0.0092 | 6092 | c.238 others(6111): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18560891 | T | TCTCTTTT others(6085): Show |
intron_variant | MODIFIER | NA19009.hp1 NA19085.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0002a0002c0004t0012 | a0001c0003t0002g0184 a0002c0004t0012g0124 |
2 | 218 | 0.0092 | 6092 | c.238 others(6111): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18560891 | T | TCTCTTTT others(6085): Show |
intron_variant | MODIFIER | NA18970.hp2 NA18992.hp2 |
a0001a0003 | a0001c0008a0003c0011 | a0001c0008t0004a0003c0011t0002 | a0001c0008t0004g0127 a0003c0011t0002g0166 |
2 | 218 | 0.0092 | 6092 | c.238 others(6111): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107719677 | T | TGGGTTGC others(6085): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 | 1 | 222 | 0.0045 | 6092 | c.405 others(6109): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15602929 | T | TAAGAATA others(6085): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0138 | 1 | 220 | 0.0046 | 6092 | c.211 others(6111): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 20/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15602929 | T | TAAGAATA others(6085): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0128 | 1 | 220 | 0.0046 | 6092 | c.211 others(6111): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 20/29 | chr10 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6085): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176 | 1 | 374 | 0.0027 | 6092 | c.283 others(6109): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6085): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0003 | a0001c0003t0080 | a0001c0003t0080g0229 | 1 | 272 | 0.0037 | 6092 | c.22- others(6107): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89159080 | T | TGAAAACC others(6085): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0172 | 1 | 188 | 0.0053 | 6092 | c.474 others(6111): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
SLC22A15_chr1_115971513_116075054 | 116005396 | T | TCTCCATA others(6085): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 a0001c0001t0006g0127 a0001c0001t0006g0234 others(4): Show |
8 | 308 | 0.0260 | 6092 | c.300 others(6111): Show |
SLC22A15 | ENSG00000163393.13 | transcript | ENST00000369503.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC9A9_chr3_143260222_143853468 | 143402916 | T | TTTTTGTT others(6085): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0047 | 1 | 108 | 0.0093 | 6092 | c.147 others(6113): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
TENM1_chrX_124370903_125209312 | 124787395 | G | GCTATACA others(6085): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0060 | 1 | 140 | 0.0071 | 6092 | c.536 others(6111): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 6/34 | chrX | TogoVar | |||||||
TENM4_chr11_78647829_79446030 | 79305342 | T | TAAGAATA others(6085): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0005 | a0005c0009 | a0005c0009t0031 | a0005c0009t0031g0021 | 1 | 94 | 0.0106 | 6092 | c.-32 others(6111): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 1/33 | chr11 | TogoVar | |||||||
TEX30_chr13_102760888_102778786 | 102764141 | A | ACAAATCT others(6085): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 454 | 0.0022 | 6092 | c.*22 others(6103): Show |
TEX30 | ENSG00000151287.17 | transcript | ENST00000376032.9 | protein_coding | 1746 | chr13 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18560891 | T | TCTCTTTT others(6086): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0206 | 1 | 218 | 0.0046 | 6093 | c.238 others(6112): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6086): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 234 | 0.0043 | 6093 | c.829 others(6112): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6086): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 |
2 | 234 | 0.0086 | 6093 | c.829 others(6112): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6086): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 234 | 0.0043 | 6093 | c.829 others(6112): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |