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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APPL1_chr3_57222729_57278471 | 57262385 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02683.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 a0001c0001t0002g0125 a0001c0001t0002g0160 |
3 | 5 | 0.6000 | 14 | c.184 others(33): Show |
APPL1 | ENSG00000157500.12 | transcript | ENST00000288266.8 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
APPL2_chr12_105168300_105241174 | 105203010 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0098 | 1 | 17 | 0.0588 | 14 | c.704 others(29): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 9/20 | chr12 | TogoVar | |||||||
AQP11_chr11_77584953_77615356 | 77596459 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(74): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0053 a0001c0010t0001g0053 a0002c0002t0002g0003 others(13): Show |
77 | 422 | 0.1825 | 14 | c.619 others(31): Show |
AQP11 | ENSG00000178301.4 | transcript | ENST00000313578.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AQP11_chr11_77584953_77615356 | 77596537 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG01069.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0053 others(7): Show |
20 | 208 | 0.0962 | 14 | c.619 others(31): Show |
AQP11 | ENSG00000178301.4 | transcript | ENST00000313578.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AQP1_chr7_30906853_30930516 | 30909135 | G | GCACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0114 | 1 | 244 | 0.0041 | 14 | c.-27 others(25): Show |
AQP1 | ENSG00000240583.14 | transcript | ENST00000311813.11 | protein_coding | 2717 | chr7 | TogoVar | |||||||
AQP4_chr18_26847043_26870707 | 26847501 | A | AACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0162 a0001c0001t0008g0163 |
2 | 61 | 0.0328 | 14 | c.*87 others(25): Show |
AQP4 | ENSG00000171885.18 | transcript | ENST00000383168.9 | protein_coding | 4541 | chr18 | TogoVar | |||||||
AQP7B_chr2_94582311_94609628 | 94607024 | T | TAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0175 | 1 | 360 | 0.0028 | 14 | c.*24 others(25): Show |
AQP7B | ENSG00000259916.2 | transcript | ENST00000561882.2 | protein_coding | 2397 | chr2 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25216215 | T | TTCTTTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG03654.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0003 a0002c0002t0002g0004 a0002c0002t0002g0017 |
3 | 252 | 0.0119 | 14 | c.-83 others(23): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 731 | chr16 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25217856 | C | CCCCCACC others(7): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 418 | 0.0024 | 14 | c.260 others(29): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
AQP9_chr15_58133381_58190911 | 58179509 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017 | a0001c0001t0004g0083 a0001c0001t0017g0288 |
2 | 109 | 0.0183 | 14 | c.713 others(29): Show |
AQP9 | ENSG00000103569.11 | transcript | ENST00000219919.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AQR_chr15_34846782_34974742 | 34882465 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02976.hp2 others(5): Show |
a0001a0004 | a0001c0005a0001c0008a0001c0011others(1): Show | a0001c0005t0023a0001c0005t0069a0001c0008t0018others(4): Show | a0001c0005t0023g0007 a0001c0005t0023g0008 a0001c0005t0069g0309 others(5): Show |
8 | 165 | 0.0485 | 14 | c.316 others(29): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 27/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34895187 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 | 1 | 87 | 0.0115 | 14 | c.246 others(33): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 22/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34895187 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18951.hp2 NA19091.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0028 | a0001c0001t0003g0135 a0001c0001t0006g0128 a0001c0001t0006g0130 others(1): Show |
4 | 90 | 0.0444 | 14 | c.246 others(33): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 22/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34895187 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0044 | a0001c0001t0001g0047 a0001c0001t0044g0308 |
2 | 88 | 0.0227 | 14 | c.246 others(33): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 22/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34895187 | A | AAAATATA others(7): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03195.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 a0001c0001t0003g0119 a0001c0001t0003g0273 |
3 | 89 | 0.0337 | 14 | c.246 others(33): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 22/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34895187 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 | 1 | 87 | 0.0115 | 14 | c.246 others(33): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 22/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34946635 | T | TCTGCCTG others(7): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0005 | a0005c0019 | a0005c0019t0003 | a0005c0019t0003g0112 | 1 | 310 | 0.0032 | 14 | c.330 others(31): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 5/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34958992 | G | GATATAGA others(7): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0142 | 1 | 309 | 0.0032 | 14 | c.173 others(31): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 3/34 | chr15 | TogoVar | |||||||
ARAP1_chr11_72680069_72757408 | 72755306 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 NA18992.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0295 a0003c0005t0001g0108 |
2 | 189 | 0.0106 | 14 | c.-31 others(25): Show |
ARAP1 | ENSG00000186635.16 | transcript | ENST00000393609.8 | protein_coding | 2899 | chr11 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36128477 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(41): Show |
a0001a0013a0016 | a0001c0001a0013c0018a0016c0025 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0002g0130 others(41): Show |
44 | 73 | 0.6027 | 14 | c.364 others(29): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 21/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36128477 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03225.hp2 |
a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0060 a0001c0012t0003g0063 |
2 | 31 | 0.0645 | 14 | c.364 others(29): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 21/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36140134 | A | ACAATACA others(7): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 a0001c0001t0002g0140 |
2 | 275 | 0.0073 | 14 | c.326 others(33): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 19/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36140139 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01069.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0141 others(4): Show |
7 | 61 | 0.1148 | 14 | c.326 others(33): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 19/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36184176 | T | TACTTTAT others(7): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 | 1 | 276 | 0.0036 | 14 | c.167 others(33): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 8/32 | chr4 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141655182 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01346.hp1 others(8): Show |
a0001a0002a0006 | a0001c0002a0001c0006a0002c0004others(1): Show | a0001c0002t0001a0001c0006t0001a0002c0004t0001others(1): Show | a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0078 others(8): Show |
11 | 74 | 0.1486 | 14 | c.414 others(31): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 32/32 | chr5 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141655225 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02818.hp2 |
a0001a0014 | a0001c0018a0014c0041 | a0001c0018t0002a0014c0041t0001 | a0001c0018t0002g0253 a0014c0041t0001g0255 |
2 | 184 | 0.0109 | 14 | c.414 others(31): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 32/32 | chr5 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141676567 | T | TCAGCAGC others(7): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0247 | 1 | 414 | 0.0024 | 14 | c.699 others(31): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 4/32 | chr5 | TogoVar | |||||||
ARCN1_chr11_118567409_118608033 | 118581925 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0069 | 1 | 364 | 0.0027 | 14 | c.267 others(29): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARCN1_chr11_118567409_118608033 | 118581929 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02148.hp1 HG03491.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0018 | a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0061 others(3): Show |
8 | 284 | 0.0282 | 14 | c.267 others(29): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARCN1_chr11_118567409_118608033 | 118581933 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18945.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 2 | 264 | 0.0076 | 14 | c.267 others(29): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARCN1_chr11_118567409_118608033 | 118581937 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0007 | a0001c0002t0006g0121 a0001c0002t0007g0120 |
2 | 161 | 0.0124 | 14 | c.267 others(29): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARCN1_chr11_118567409_118608033 | 118581937 | G | GACAGACA others(7): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0301 | 1 | 160 | 0.0063 | 14 | c.267 others(29): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AREL1_chr14_74656256_74718080 | 74699348 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA19030.hp1 NA19043.hp2 |
a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0020 | 2 | 301 | 0.0066 | 14 | c.-33 others(33): Show |
AREL1 | ENSG00000119682.18 | transcript | ENST00000356357.9 | protein_coding | 1/19 | chr14 | TogoVar | |||||||
AREL1_chr14_74656256_74718080 | 74712038 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0323 | 1 | 224 | 0.0045 | 14 | c.-33 others(31): Show |
AREL1 | ENSG00000119682.18 | transcript | ENST00000356357.9 | protein_coding | 1/19 | chr14 | TogoVar | |||||||
ARF1_chr1_228077708_228104212 | 228102600 | C | CACACCCA others(7): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 NA18997.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0089 |
3 | 428 | 0.0070 | 14 | c.*45 others(25): Show |
ARF1 | ENSG00000143761.17 | transcript | ENST00000272102.10 | protein_coding | 3389 | chr1 | TogoVar | |||||||
ARF3_chr12_48930723_48962487 | 48932227 | T | TTATATTT others(7): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 279 | 0.0036 | 14 | c.*67 others(25): Show |
ARF3 | ENSG00000134287.10 | transcript | ENST00000256682.9 | protein_coding | 3495 | chr12 | TogoVar | |||||||
ARF4_chr3_57566363_57602344 | 57570219 | G | GTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02717.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 3 | 84 | 0.0357 | 14 | c.*19 others(25): Show |
ARF4 | ENSG00000168374.11 | transcript | ENST00000303436.11 | protein_coding | 1143 | chr3 | TogoVar | |||||||
ARFGAP1_chr20_63267813_63294790 | 63274311 | A | ACCCCCCC others(7): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0067 | 1 | 15 | 0.0667 | 14 | c.-4- others(29): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGAP1_chr20_63267813_63294790 | 63274311 | A | ACCCCCCC others(7): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0219 | 1 | 15 | 0.0667 | 14 | c.-4- others(29): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGAP1_chr20_63267813_63294790 | 63274311 | A | ACCCCCCC others(7): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0224 | 1 | 15 | 0.0667 | 14 | c.-4- others(29): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGAP3_chr22_42791502_42862273 | 42837675 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp1 others(39): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0106 a0001c0001t0001g0114 others(39): Show |
42 | 149 | 0.2819 | 14 | c.262 others(31): Show |
ARFGAP3 | ENSG00000242247.11 | transcript | ENST00000263245.10 | protein_coding | 3/15 | chr22 | TogoVar | |||||||
ARFGAP3_chr22_42791502_42862273 | 42859678 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0007 | a0007c0010 | a0007c0010t0007 | a0007c0010t0007g0014 | 1 | 324 | 0.0031 | 14 | c.-25 others(25): Show |
ARFGAP3 | ENSG00000242247.11 | transcript | ENST00000263245.10 | protein_coding | 2406 | chr22 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67218201 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 184 | 0.0054 | 14 | c.433 others(29): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 30/38 | chr8 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67218207 | A | AAAATATA others(7): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0206 | 1 | 96 | 0.0104 | 14 | c.433 others(29): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 30/38 | chr8 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67222170 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 206 | 0.0049 | 14 | c.420 others(33): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 29/38 | chr8 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67244242 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 83 | 0.0120 | 14 | c.285 others(33): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 19/38 | chr8 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67258818 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02145.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0074 a0001c0001t0001g0100 others(6): Show |
9 | 109 | 0.0826 | 14 | c.223 others(31): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 15/38 | chr8 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67339795 | C | CGGGGGGG others(7): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03139.hp1 NA19088.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0092 a0001c0001t0001g0093 a0002c0004t0001g0180 |
3 | 24 | 0.1250 | 14 | c.124 others(31): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 1/38 | chr8 | TogoVar | |||||||
ARFGEF2_chr20_48916711_49041693 | 48950807 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03654.hp2 NA18977.hp2 |
a0001a0006 | a0001c0002a0006c0009 | a0001c0002t0001a0006c0009t0001 | a0001c0002t0001g0311 a0006c0009t0001g0288 |
2 | 320 | 0.0063 | 14 | c.277 others(29): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48950809 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01071.hp1 NA19074.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0286 a0001c0002t0001g0294 |
2 | 287 | 0.0070 | 14 | c.277 others(29): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |