| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(687): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 a0001c0001t0007g0169 a0001c0001t0007g0171 |
3 | 8 | 0.3750 | 694 | c.368 others(711): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(687): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0068 | 1 | 8 | 0.1250 | 694 | c.115 others(711): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(687): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0089 | 1 | 156 | 0.0064 | 694 | c.358 others(711): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| NCOR2_chr12_124319415_124572612 | 124468037 | A | ATCCTCAT others(687): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0136 | a0001c0136t0003 | a0001c0136t0003g0194 | 1 | 36 | 0.0278 | 694 | c.592 others(711): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 6/48 | chr12 | TogoVar | |||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(687): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0235 | 1 | 118 | 0.0085 | 694 | c.-75 others(713): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 841411 | T | TGACCACG others(687): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 222 | 0.0045 | 694 | c.361 others(713): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 841420 | C | CGCATCTC others(687): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 209 | 0.0048 | 694 | c.361 others(713): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(687): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 254 | 0.0039 | 694 | c.-16 others(705): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
| PAK2_chr3_196734857_196837647 | 196811266 | T | TTCCCTTC others(687): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 155 | 0.0065 | 694 | c.773 others(709): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318048 | T | TACCTCCC others(687): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02273.hp2 HG02451.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0002 | a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 others(10): Show |
13 | 353 | 0.0368 | 694 | c.*35 others(705): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3075 | chr5 | TogoVar | |||||||
| PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(687): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG03041.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0067 a0001c0001t0002g0068 |
4 | 251 | 0.0159 | 694 | c.*35 others(705): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | |||||||
| PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(687): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 a0001c0001t0002g0078 |
2 | 249 | 0.0080 | 694 | c.*35 others(705): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | |||||||
| PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCT others(687): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 248 | 0.0040 | 694 | c.*35 others(705): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | |||||||
| PKP3_chr11_389209_409908 | 401785 | G | GGCCCGCT others(687): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0143 | 1 | 165 | 0.0061 | 694 | c.173 others(713): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
| PRDM16_chr1_3064203_3443621 | 3181307 | C | CGGCCTTA others(687): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01258.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0181 a0001c0001t0002g0011 a0001c0002t0001g0018 others(8): Show |
11 | 180 | 0.0611 | 694 | c.38- others(709): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3181307 | C | CGGCCTTA others(687): Show |
intron_variant | MODIFIER | HG00673.hp1 NA19004.hp1 NA19010.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0009t0074 | a0001c0001t0003g0013 a0001c0001t0003g0049 a0001c0009t0074g0117 |
3 | 172 | 0.0174 | 694 | c.38- others(709): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3181307 | C | CGGCCTTA others(687): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0093 | 1 | 170 | 0.0059 | 694 | c.38- others(709): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3181307 | C | CGGCCTTA others(687): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01175.hp2 HG01257.hp2 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0016a0001c0002t0027 | a0001c0002t0008g0083 a0001c0002t0016g0015 a0001c0002t0027g0166 |
3 | 172 | 0.0174 | 694 | c.38- others(709): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3181307 | C | CGGCCTTA others(687): Show |
intron_variant | MODIFIER | NA18747.hp2 NA19074.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0034a0001c0002t0015 | a0001c0001t0034g0075 a0001c0002t0015g0118 |
2 | 171 | 0.0117 | 694 | c.38- others(709): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3181307 | C | CGGCCTTA others(687): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0094 | 1 | 170 | 0.0059 | 694 | c.38- others(709): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114044516 | G | GCCCCGCC others(687): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0057 | 1 | 17 | 0.0588 | 694 | c.278 others(711): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
| RGS12_chr4_3288021_3444913 | 3309961 | G | GGGAGGAG others(687): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0188 | 1 | 293 | 0.0034 | 694 | c.-10 others(713): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(687): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 129 | 0.0078 | 694 | c.-75 others(713): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
| RUNDC3B_chr7_87623398_87837296 | 87626639 | T | TATACATG others(687): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0008 | 1 | 197 | 0.0051 | 694 | c.-21 others(705): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1758 | chr7 | TogoVar | |||||||
| SAMD11_chr1_918923_949574 | 934183 | G | GCGGCTGC others(687): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0252 | 1 | 429 | 0.0023 | 694 | c.843 others(711): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(687): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 230 | 0.0043 | 694 | c.115 others(711): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
| SEPTIN9_chr17_77276499_77505593 | 77356681 | C | CCCCCTCC others(687): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02630.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0048a0001c0007t0051a0001c0009t0030 | a0001c0001t0048g0149 a0001c0007t0051g0008 a0001c0009t0030g0150 |
3 | 119 | 0.0252 | 694 | c.77- others(711): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SEPTIN9_chr17_77314518_77505593 | 77356681 | C | CCCCCTCC others(687): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02630.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0006a0001c0004t0037a0001c0010t0035 | a0001c0001t0006g0116 a0001c0004t0037g0152 a0001c0010t0035g0061 |
3 | 123 | 0.0244 | 694 | c.22+ others(711): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SHROOM2_chrX_9781429_9954443 | 9792111 | G | GAAATAGA others(687): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0019 | a0019c0027 | a0019c0027t0002 | a0019c0027t0002g0046 | 1 | 254 | 0.0039 | 694 | c.165 others(711): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(687): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 3 | 0.3333 | 694 | c.*12 others(705): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
| SRXN1_chr20_641615_658200 | 642261 | G | GGGGGGGG others(687): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 362 | 0.0028 | 694 | c.*64 others(705): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4353 | chr20 | TogoVar | |||||||
| TCF25_chr16_89868592_89916379 | 89908688 | A | ACCTCCCT others(687): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18979.hp2 |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0006c0012t0001 | a0001c0001t0001g0210 a0006c0012t0001g0254 |
2 | 214 | 0.0093 | 694 | c.179 others(713): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377013 | A | ACCCAGCC others(687): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0010 | a0003c0010t0044 | a0003c0010t0044g0138 | 1 | 368 | 0.0027 | 694 | c.-10 others(705): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 988 | chr19 | TogoVar | |||||||
| TMEM120B_chr12_121707752_121787068 | 121747510 | G | GTCTGGGG others(687): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0210 | 1 | 303 | 0.0033 | 694 | c.189 others(709): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
| TMEM120B_chr12_121707752_121787068 | 121747510 | G | GTCTGGGG others(687): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0220 | 1 | 303 | 0.0033 | 694 | c.189 others(709): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
| TMEM120B_chr12_121707752_121787068 | 121747510 | G | GTCTGGGG others(687): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0237 | 1 | 303 | 0.0033 | 694 | c.189 others(709): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
| TMEM120B_chr12_121707752_121787068 | 121747874 | C | CTGGGGTA others(687): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0271 | 1 | 297 | 0.0034 | 694 | c.189 others(709): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
| TWIST2_chr2_238843085_238915534 | 238909034 | A | ATTTGTGG others(687): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 10 | 0.1000 | 694 | c.*36 others(709): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(687): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0224 | 1 | 74 | 0.0135 | 694 | c.218 others(711): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(687): Show |
intron_variant | MODIFIER | NA18975.hp1 NA19012.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0223 a0001c0003t0003g0228 |
2 | 75 | 0.0267 | 694 | c.218 others(711): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(687): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0240 | 1 | 74 | 0.0135 | 694 | c.218 others(711): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(687): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0227 | 1 | 74 | 0.0135 | 694 | c.218 others(711): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(687): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18998.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0258 a0001c0003t0003g0275 |
2 | 75 | 0.0267 | 694 | c.218 others(711): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(687): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0023 | 2 | 13 | 0.1538 | 694 | c.55+ others(709): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
| ZNF627_chr19_11592483_11624161 | 11613135 | T | TCATCCCC others(687): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 279 | 0.0036 | 694 | c.4-1 others(707): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
| AHRR_chr5_316714_443285 | 391672 | G | GCAGGGCG others(688): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0089 | 1 | 202 | 0.0050 | 695 | c.351 others(714): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(688): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG02280.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0031a0001c0001t0073 | a0001c0001t0005g0000 a0001c0001t0031g0000 a0001c0001t0073g0000 |
5 | 14 | 0.3571 | 695 | c.*10 others(708): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(688): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 5 | 0.2000 | 695 | c.927 others(712): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
| ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(688): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0031 a0001c0002t0009g0208 |
2 | 73 | 0.0274 | 695 | c.273 others(712): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82972093 | C | CAGAAGGA others(688): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0041 | 1 | 261 | 0.0038 | 695 | c.460 others(712): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar |