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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(1651): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 338 | 0.0030 | 1658 | c.*35 others(1677): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063930 | A | AAGGGAGG others(1651): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 167 | 0.0060 | 1658 | c.*53 others(1669): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2225 | chr13 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112636598 | G | GAAATAGG others(1652): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0279 | 1 | 368 | 0.0027 | 1659 | c.40- others(1676): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586550 | G | GGGGGGGG others(1652): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0066 | 1 | 308 | 0.0033 | 1659 | c.157 others(1676): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1652): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315 | 1 | 402 | 0.0025 | 1659 | c.292 others(1678): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1652): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324 | 1 | 402 | 0.0025 | 1659 | c.292 others(1678): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
LYZL6_chr17_35929518_35948713 | 35945143 | T | TAAAGTAT others(1652): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02976.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0020 a0001c0002t0002g0050 |
3 | 415 | 0.0072 | 1659 | c.-17 others(1670): Show |
LYZL6 | ENSG00000275722.5 | transcript | ENST00000615905.5 | protein_coding | 1431 | chr17 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1653): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 182 | 0.0055 | 1660 | c.505 others(1679): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1653): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0179 | 1 | 182 | 0.0055 | 1660 | c.505 others(1679): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65172153 | A | ACACACCT others(1653): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 204 | 0.0049 | 1660 | c.308 others(1677): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65172153 | A | ACACACCT others(1653): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 204 | 0.0049 | 1660 | c.308 others(1677): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65172153 | A | ACACACCT others(1653): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00741.hp1 others(40): Show |
a0001 | a0001c0001a0001c0009a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0035 others(40): Show |
43 | 204 | 0.2108 | 1660 | c.308 others(1677): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/24 | chr5 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9406230 | T | TCTTCCTC others(1653): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 a0001c0002t0002g0058 |
2 | 210 | 0.0095 | 1660 | c.*29 others(1671): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 553 | chr2 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758600 | T | TCACCTGC others(1653): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0058 | 1 | 300 | 0.0033 | 1660 | c.654 others(1679): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882452 | G | GGGGGAGA others(1653): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0098 | 1 | 288 | 0.0035 | 1660 | c.303 others(1679): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1653): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0010 | a0010c0009 | a0010c0009t0027 | a0010c0009t0027g0302 | 1 | 364 | 0.0028 | 1660 | c.445 others(1675): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(1653): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0004 | a0004c0043 | a0004c0043t0004 | a0004c0043t0004g0147 | 1 | 167 | 0.0060 | 1660 | c.646 others(1675): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933645 | G | GAGAGGAA others(1653): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0002 | a0002c0001 | a0002c0001t0058 | a0002c0001t0058g0369 | 1 | 386 | 0.0026 | 1660 | c.198 others(1675): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1653): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02109.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0153 a0005c0006t0001g0160 |
2 | 168 | 0.0119 | 1660 | c.338 others(1679): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602360 | T | TCTCCTGC others(1653): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0113 | a0001c0113t0001 | a0001c0113t0001g0369 | 1 | 408 | 0.0025 | 1660 | c.633 others(1677): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406230 | T | TCTTCCTC others(1653): Show |
3_prime_UTR_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0222 | a0001c0001t0222g0176 | 1 | 276 | 0.0036 | 1660 | c.*60 others(1669): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 603 | chr2 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1653): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03225.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0015a0001c0021a0001c0033 | a0001c0015t0009a0001c0015t0066a0001c0021t0055others(1): Show | a0001c0015t0009g0053 a0001c0015t0009g0116 a0001c0015t0066g0115 others(2): Show |
5 | 226 | 0.0221 | 1660 | c.576 others(1679): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364447 | A | ACCCACAC others(1653): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0129 | 1 | 290 | 0.0035 | 1660 | c.129 others(1677): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LYZL6_chr17_35929518_35948713 | 35945143 | T | TAAAGTAT others(1653): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 415 | 0.0024 | 1660 | c.-17 others(1671): Show |
LYZL6 | ENSG00000275722.5 | transcript | ENST00000615905.5 | protein_coding | 1431 | chr17 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1653): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0107 | a0002c0107t0001 | a0002c0107t0001g0027 | 1 | 292 | 0.0034 | 1660 | c.218 others(1675): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502054 | G | GCCTCCTC others(1653): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0032 | a0032c0125 | a0032c0125t0008 | a0032c0125t0008g0087 | 1 | 292 | 0.0034 | 1660 | c.218 others(1677): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344611 | G | AGGGGGTT others(1653): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 367 | 0.0027 | 1660 | c.4-1 others(1673): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494650 | A | ACGGGGGA others(1653): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0048 | a0001c0001t0033g0154 a0001c0001t0048g0009 |
2 | 302 | 0.0066 | 1660 | c.*39 others(1671): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2607 | chr7 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3162861 | C | CTCTAGAG others(1653): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03540.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008a0001c0013 | a0001c0001t0019a0001c0001t0020a0001c0001t0043others(2): Show | a0001c0001t0019g0101 a0001c0001t0020g0105 a0001c0001t0043g0060 others(2): Show |
5 | 210 | 0.0238 | 1660 | c.38- others(1677): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1653): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0133 | 1 | 134 | 0.0075 | 1660 | c.-28 others(1679): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GCTGAAAT others(1653): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1660 | c.*30 others(1671): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65172153 | A | ACACACCT others(1654): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0062 | 1 | 204 | 0.0049 | 1661 | c.308 others(1678): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65172153 | A | ACACACCT others(1654): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0086 a0001c0001t0003g0037 a0001c0001t0003g0065 others(3): Show |
6 | 204 | 0.0294 | 1661 | c.308 others(1678): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65172153 | A | ACACACCT others(1654): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01993.hp2 HG02080.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 a0001c0001t0003g0059 a0001c0001t0003g0060 others(5): Show |
8 | 204 | 0.0392 | 1661 | c.308 others(1678): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/24 | chr5 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1654): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02165.hp1 HG03017.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0018 a0001c0001t0001g0273 a0001c0001t0001g0293 others(5): Show |
9 | 364 | 0.0247 | 1661 | c.445 others(1676): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478078 | G | GGAAGGGA others(1654): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0038 | 1 | 88 | 0.0114 | 1661 | c.158 others(1678): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619060 | C | CTGCCCCC others(1654): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 250 | 0.0040 | 1661 | c.-10 others(1680): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAT others(1654): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 384 | 0.0026 | 1661 | c.215 others(1678): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1654): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 418 | 0.0024 | 1661 | c.119 others(1680): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1654): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 | 1 | 168 | 0.0060 | 1661 | c.338 others(1680): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1654): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 168 | 0.0060 | 1661 | c.338 others(1680): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218336 | C | CAACACCA others(1654): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0013 | 1 | 106 | 0.0094 | 1661 | c.*28 others(1672): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1167 | chr8 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323511 | C | CGGAATGA others(1654): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0099 | 1 | 155 | 0.0065 | 1661 | c.-47 others(1672): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4716 | chrX | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1654): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 270 | 0.0037 | 1661 | c.104 others(1680): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1654): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0262 | 1 | 356 | 0.0028 | 1661 | c.228 others(1678): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NRCAM_chr7_108142649_108461436 | 108163931 | G | GGGGTAGT others(1654): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 208 | 0.0048 | 1661 | c.346 others(1680): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948575 | G | GGGGCGTG others(1654): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 356 | 0.0028 | 1661 | c.114 others(1678): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1654): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 126 | 0.0079 | 1661 | c.-28 others(1680): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36396348 | C | CACGCACG others(1655): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02056.hp2 HG02257.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0092 others(8): Show |
11 | 144 | 0.0764 | 1662 | c.-73 others(1681): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36396348 | C | CACGCACG others(1655): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0111 a0001c0001t0007g0004 |
2 | 144 | 0.0139 | 1662 | c.-73 others(1681): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |