regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HAUS2_chr15_42543838_42574994 | 42557403 | T | TATATATT others(1017): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 350 | 0.0029 | 1024 | c.94- others(1037): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62360411 | A | AGGTGGGT others(1017): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02630.hp1 |
a0087a0088 | a0087c0031a0088c0032 | a0087c0031t0001a0088c0032t0001 | a0087c0031t0001g0179a0088c0032t0001g0178 | 2 | 186 | 0.0108 | 1024 | c.450 others(1041): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(1017): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 422 | 0.0024 | 1024 | c.195 others(1041): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CCGTCACC others(1017): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0046 | 1 | 66 | 0.0152 | 1024 | c.234 others(1039): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CCGTCACC others(1017): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017 | a0001c0001t0004g0006a0001c0001t0004g0035a0001c0001t0017g0006 | 3 | 66 | 0.0455 | 1024 | c.234 others(1039): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1017): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 456 | 0.0022 | 1024 | c.*31 others(1035): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1017): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02615.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0126a0001c0001t0001g0232a0001c0001t0002g0054 | 3 | 304 | 0.0099 | 1024 | c.347 others(1039): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92639797 | C | CCTGCCTG others(1017): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02074.hp1 HG03704.hp2 others(1): Show |
a0001a0012a0021 | a0001c0001a0012c0016a0021c0043 | a0001c0001t0001a0012c0016t0001a0012c0016t0002others(1): Show | a0001c0001t0001g0105a0012c0016t0001g0165a0012c0016t0002g0297others(1): Show | 4 | 334 | 0.0120 | 1024 | c.441 others(1041): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 217421 | C | CCTTTCTT others(1017): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(12): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0030a0001c0001t0001g0110a0001c0001t0001g0115others(12): Show | 15 | 133 | 0.1128 | 1024 | c.728 others(1041): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668559 | C | CCCTCACC others(1017): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0017 | a0003c0017t0004 | a0003c0017t0004g0004 | 1 | 262 | 0.0038 | 1024 | c.249 others(1043): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284173 | G | GGGTTGGG others(1017): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 290 | 0.0035 | 1024 | c.464 others(1037): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GTGATTGT others(1017): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0084 | 1 | 150 | 0.0067 | 1024 | c.914 others(1041): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77314518_77505593 | 77485015 | G | GTGATTGT others(1017): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0018 | 1 | 158 | 0.0063 | 1024 | c.860 others(1041): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SHC2_chr19_411589_466033 | 433512 | G | GCTTCATC others(1017): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 212 | 0.0047 | 1024 | c.111 others(1043): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1017): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 180 | 0.0056 | 1024 | c.148 others(1043): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1017): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0102 | 1 | 180 | 0.0056 | 1024 | c.148 others(1043): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1017): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0012 | 1 | 180 | 0.0056 | 1024 | c.148 others(1043): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1017): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00735.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0045a0001c0001t0001g0108a0001c0001t0001g0167others(32): Show | 35 | 180 | 0.1944 | 1024 | c.148 others(1043): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1017): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0018 | a0001c0018t0006 | a0001c0018t0006g0169 | 1 | 180 | 0.0056 | 1024 | c.148 others(1043): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1017): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0143 | 1 | 180 | 0.0056 | 1024 | c.148 others(1043): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1017): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01433.hp1 HG01496.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0037others(20): Show | 23 | 180 | 0.1278 | 1024 | c.148 others(1043): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1017): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02015.hp2 HG04115.hp1 others(2): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0023 | a0001c0001t0001a0001c0001t0004a0003c0003t0001others(1): Show | a0001c0001t0001g0046a0001c0001t0004g0172a0001c0001t0004g0177others(2): Show | 5 | 180 | 0.0278 | 1024 | c.148 others(1043): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1017): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp2 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0014a0001c0001t0001g0049a0001c0001t0001g0061others(42): Show | 45 | 180 | 0.2500 | 1024 | c.148 others(1043): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1017): Show |
intron_variant | MODIFIER | HG01346.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047a0001c0001t0004g0058 | 2 | 180 | 0.0111 | 1024 | c.148 others(1043): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SPATA3_chr2_230991121_231013040 | 231005542 | C | CACCACCA others(1017): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0062 | 1 | 436 | 0.0023 | 1024 | c.*11 others(1043): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SUFU_chr10_102498972_102638535 | 102637435 | T | TTATATAT others(1017): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 268 | 0.0037 | 1024 | c.*72 others(1035): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3901 | chr10 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1017): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0227 | 1 | 258 | 0.0039 | 1024 | c.113 others(1043): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(1017): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0039a0001c0001t0020g0038 | 2 | 112 | 0.0179 | 1024 | c.638 others(1039): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
THEG_chr19_356747_381026 | 360163 | T | TCTCAGGA others(1017): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0004 | a0003c0004t0035 | a0003c0004t0035g0044 | 1 | 370 | 0.0027 | 1024 | c.*20 others(1035): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1583 | chr19 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(1017): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0061 | 1 | 388 | 0.0026 | 1024 | c.*22 others(1035): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930835 | G | GTTAGGGA others(1017): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0040a0001c0001t0014g0160 | 2 | 466 | 0.0043 | 1024 | c.*47 others(1035): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4534 | chr11 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(1017): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0273 | 1 | 344 | 0.0029 | 1024 | c.218 others(1041): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1017): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0214 | 1 | 228 | 0.0044 | 1024 | c.127 others(1041): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(1018): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0085 | a0001c0002t0085g0328 | 1 | 337 | 0.0030 | 1025 | c.61+ others(1040): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1018): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0003 | a0003c0003 | a0003c0003t0025 | a0003c0003t0025g0000 | 1 | 416 | 0.0024 | 1025 | c.*10 others(1038): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1018): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 318 | 0.0031 | 1025 | c.285 others(1044): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1018): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 318 | 0.0031 | 1025 | c.285 others(1044): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1018): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02083.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0029others(3): Show | 7 | 318 | 0.0220 | 1025 | c.285 others(1044): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1018): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01256.hp1 NA18944.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0023others(4): Show | 7 | 318 | 0.0220 | 1025 | c.285 others(1044): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1018): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 318 | 0.0031 | 1025 | c.285 others(1044): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1018): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 318 | 0.0031 | 1025 | c.285 others(1044): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2539706 | T | TTTCATAA others(1018): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0076 | 1 | 104 | 0.0096 | 1025 | c.139 others(1046): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP46_chr10_132803392_132947570 | 132896030 | C | CGGTGAGA others(1018): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0071 | a0071c0098 | a0071c0098t0002 | a0071c0098t0002g0023 | 1 | 246 | 0.0041 | 1025 | c.321 others(1044): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132896030 | C | CGGTGAGA others(1018): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0028 | a0028c0027 | a0028c0027t0002 | a0028c0027t0002g0077 | 1 | 246 | 0.0041 | 1025 | c.321 others(1044): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45431488 | A | AGGGGGGC others(1018): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0145 | 1 | 292 | 0.0034 | 1025 | c.106 others(1044): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89619428 | C | CCCCCCCT others(1018): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0149 | 1 | 250 | 0.0040 | 1025 | c.-10 others(1044): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137716144 | T | TGGGGGAG others(1018): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 170 | 0.0059 | 1025 | c.86- others(1038): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EIPR1_chr2_3183970_3382818 | 3221594 | T | TCGGGAAC others(1018): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 250 | 0.0040 | 1025 | c.417 others(1042): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1018): Show |
intron_variant | MODIFIER | NA19068.hp1 NA19084.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0343a0001c0002t0002g0344 | 2 | 408 | 0.0049 | 1025 | c.-14 others(1044): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1018): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0182 | 1 | 312 | 0.0032 | 1025 | c.-41 others(1040): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |