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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APOH_chr17_66207033_66234415 | 66211572 | GTTTGTTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0021 | 1 | 381 | 0.0026 | -12 | c.*54 others(21): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 460 | chr17 | TogoVar | |||||||
APOH_chr17_66207033_66234415 | 66224480 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | NA18987.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0049 | 1 | 384 | 0.0026 | -12 | c.339 others(27): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
APOH_chr17_66207033_66234415 | 66224640 | AGGGAAGG others(5): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02723.hp1 HG02886.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0103 a0002c0002t0001g0107 a0002c0002t0001g0108 others(1): Show |
4 | 381 | 0.0105 | -12 | c.339 others(27): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
APOH_chr17_66207033_66234415 | 66232625 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 33 | 0.0303 | -12 | c.-32 others(23): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3211 | chr17 | TogoVar | |||||||
APOL2_chr22_36221209_36244527 | 36235748 | GGTGGGTG others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013 | a0001c0001t0008g0070 a0001c0001t0013g0033 |
3 | 309 | 0.0097 | -12 | c.-13 others(31): Show |
APOL2 | ENSG00000128335.14 | transcript | ENST00000358502.10 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
APOL2_chr22_36221209_36244527 | 36239444 | GGGATCTT others(5): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01516.hp1 HG01884.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0003g0014 a0001c0001t0003g0032 a0001c0001t0008g0158 others(10): Show |
20 | 382 | 0.0524 | -12 | c.-14 others(21): Show |
APOL2 | ENSG00000128335.14 | transcript | ENST00000358502.10 | protein_coding | 1/5 | 6283 | chr22 | TogoVar | ||||||
APOL4_chr22_36184128_36206809 | 36195770 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0153 | 1 | 430 | 0.0023 | -12 | c.83- others(25): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
APOL4_chr22_36184128_36206809 | 36195772 | TCTCTCAC others(5): Show |
T | intron_variant | MODIFIER | NA19003.hp1 NA19009.hp2 NA19077.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0013 a0001c0001t0001g0120 a0001c0001t0028g0061 |
4 | 247 | 0.0162 | -12 | c.83- others(25): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
APOL4_chr22_36184128_36206809 | 36195776 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0011 | a0011c0020 | a0011c0020t0008 | a0011c0020t0008g0110 | 1 | 267 | 0.0037 | -12 | c.83- others(25): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
APOL6_chr22_35643446_35673404 | 35646242 | GTGTGTGT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02258.hp1 HG02717.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0001t0016a0001c0001t0019others(5): Show | a0001c0001t0013g0108 a0001c0001t0016g0018 a0001c0001t0016g0116 others(6): Show |
11 | 384 | 0.0286 | -12 | c.-24 others(23): Show |
APOL6 | ENSG00000221963.6 | transcript | ENST00000409652.5 | protein_coding | 2203 | chr22 | TogoVar | |||||||
APOL6_chr22_35643446_35673404 | 35660805 | CCCTCATG others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0001 | 1 | 384 | 0.0026 | -12 | c.*12 others(23): Show |
APOL6 | ENSG00000221963.6 | transcript | ENST00000409652.5 | protein_coding | 3/3 | 1210 | chr22 | TogoVar | ||||||
APOOL_chrX_84998877_85098315 | 85088316 | GTTTTTTT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02818.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0048 a0001c0001t0021g0073 a0001c0001t0021g0074 |
3 | 51 | 0.0588 | -12 | c.*65 others(21): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 656 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
APOO_chrX_23828353_23912938 | 23829563 | AAAAAAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0138 | 1 | 255 | 0.0039 | -12 | c.*40 others(23): Show |
APOO | ENSG00000184831.14 | transcript | ENST00000379226.9 | protein_coding | 3789 | chrX | TogoVar | |||||||
APOO_chrX_23828353_23912938 | 23837958 | CCTATCTA others(5): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02015.hp1 HG02027.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(51): Show |
54 | 130 | 0.4154 | -12 | c.*29 others(29): Show |
APOO | ENSG00000184831.14 | transcript | ENST00000379226.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60475648 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03704.hp1 NA19011.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0128 a0001c0001t0002g0092 a0001c0001t0002g0127 |
3 | 49 | 0.0612 | -12 | c.503 others(29): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60495439 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0015others(2): Show | a0001c0001t0006g0042 a0001c0001t0006g0044 a0001c0001t0006g0047 others(7): Show |
10 | 64 | 0.1563 | -12 | c.228 others(27): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60518345 | CCGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG03471.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0018a0002c0003t0007 | a0002c0002t0018g0022 a0002c0003t0007g0016 |
2 | 144 | 0.0139 | -12 | c.138 others(29): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60524610 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | 59 | 0.1186 | -12 | c.138 others(29): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105176739 | GGAGGTAT others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02970.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0096 a0001c0003t0005g0098 a0001c0003t0005g0151 |
3 | 390 | 0.0077 | -12 | c.181 others(29): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 19/20 | chr12 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105200831 | CGTATGTA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00609.hp1 others(32): Show |
a0002a0005a0006 | a0002c0002a0002c0020a0005c0019others(1): Show | a0002c0002t0002a0002c0002t0008a0002c0020t0002others(2): Show | a0002c0002t0002g0011 a0002c0002t0002g0035 a0002c0002t0002g0036 others(31): Show |
35 | 295 | 0.1186 | -12 | c.705 others(29): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 9/20 | chr12 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105203010 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02897.hp1 HG03490.hp2 HG03492.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0003a0001c0003t0005a0002c0007t0002 | a0001c0001t0003g0018 a0001c0003t0005g0137 a0002c0007t0002g0144 |
4 | 20 | 0.2000 | -12 | c.704 others(27): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 9/20 | chr12 | TogoVar | |||||||
APTX_chr9_32967616_33006628 | 32988686 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(1): Show | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0006g0133 others(2): Show |
5 | 148 | 0.0338 | -12 | c.134 others(27): Show |
APTX | ENSG00000137074.20 | transcript | ENST00000379817.7 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
APTX_chr9_32967616_33006628 | 32995930 | TCAGCAAC others(5): Show |
T | intron_variant | MODIFIER | HG03471.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0129 |
2 | 386 | 0.0052 | -12 | c.-5+ others(27): Show |
APTX | ENSG00000137074.20 | transcript | ENST00000379817.7 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
AQP11_chr11_77584953_77615356 | 77587701 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 56 | 0.0179 | -12 | c.-22 others(23): Show |
AQP11 | ENSG00000178301.4 | transcript | ENST00000313578.4 | protein_coding | 2251 | chr11 | TogoVar | |||||||
AQP11_chr11_77584953_77615356 | 77596508 | GTGTAAAT others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 428 | 0.0023 | -12 | c.619 others(29): Show |
AQP11 | ENSG00000178301.4 | transcript | ENST00000313578.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AQP11_chr11_77584953_77615356 | 77606036 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0143 | 1 | 50 | 0.0200 | -12 | c.736 others(29): Show |
AQP11 | ENSG00000178301.4 | transcript | ENST00000313578.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AQP1_chr7_30906853_30930516 | 30909135 | GTGCACAC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02723.hp2 HG02895.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0065 a0001c0001t0003g0205 |
3 | 246 | 0.0122 | -12 | c.-27 others(23): Show |
AQP1 | ENSG00000240583.14 | transcript | ENST00000311813.11 | protein_coding | 2717 | chr7 | TogoVar | |||||||
AQP7_chr9_33378191_33407568 | 33379784 | GCATCGCC others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0018a0001c0011t0019 | a0001c0001t0018g0253 a0001c0011t0019g0353 |
2 | 436 | 0.0046 | -12 | c.*52 others(23): Show |
AQP7 | ENSG00000165269.13 | transcript | ENST00000297988.6 | protein_coding | 3406 | chr9 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25214558 | TATCCATC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02886.hp1 HG02895.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0197 a0001c0001t0003g0073 a0001c0001t0003g0183 others(1): Show |
4 | 156 | 0.0256 | -12 | c.-24 others(23): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 2388 | chr16 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25216076 | TTTTCTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01069.hp2 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(29): Show |
44 | 157 | 0.2803 | -12 | c.-96 others(21): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 870 | chr16 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25216159 | CTTTTTCT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0023 | 1 | 342 | 0.0029 | -12 | c.-88 others(21): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 787 | chr16 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25216207 | TTCTTTCT others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 412 | 0.0024 | -12 | c.-83 others(21): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 739 | chr16 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25216211 | TTCTTTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 NA19003.hp2 NA19012.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0002 a0002c0002t0002g0107 |
3 | 382 | 0.0079 | -12 | c.-83 others(21): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 735 | chr16 | TogoVar | |||||||
AQP9_chr15_58133381_58190911 | 58171834 | GATCATCA others(5): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 287 | 0.0070 | -12 | c.239 others(29): Show |
AQP9 | ENSG00000103569.11 | transcript | ENST00000219919.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AQP9_chr15_58133381_58190911 | 58187422 | TTGTGTGT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02630.hp1 NA18947.hp1 NA18992.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0157 others(1): Show |
4 | 42 | 0.0952 | -12 | c.*32 others(23): Show |
AQP9 | ENSG00000103569.11 | transcript | ENST00000219919.9 | protein_coding | 1512 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34895187 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0007a0001c0002t0041 | a0001c0001t0017g0285 a0001c0001t0017g0304 a0001c0001t0017g0305 others(3): Show |
6 | 92 | 0.0652 | -12 | c.246 others(31): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 22/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34957719 | ACATAAAA others(5): Show |
A | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0090 | 1 | 310 | 0.0032 | -12 | c.173 others(29): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 3/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34958974 | TATATAGA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01123.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0069 a0001c0001t0001g0160 a0001c0001t0001g0162 others(31): Show |
35 | 65 | 0.5385 | -12 | c.173 others(29): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 3/34 | chr15 | TogoVar | |||||||
ARAF_chrX_47556205_47576908 | 47571212 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | NA18961.hp1 NA19002.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0080 |
3 | 151 | 0.0199 | -12 | c.168 others(27): Show |
ARAF | ENSG00000078061.14 | transcript | ENST00000377045.9 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARAP1_chr11_72680069_72757408 | 72745616 | ATGGAGTA others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01168.hp2 HG02109.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0002c0003t0001g0244 others(1): Show |
4 | 352 | 0.0114 | -12 | c.-12 others(31): Show |
ARAP1 | ENSG00000186635.16 | transcript | ENST00000393609.8 | protein_coding | 1/34 | chr11 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36079173 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0076 | 1 | 47 | 0.0213 | -12 | c.460 others(31): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 31/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36156435 | GAAAGAAA others(5): Show |
G | intron_variant | MODIFIER | HG01433.hp1 NA18906.hp1 NA21309.hp2 |
a0001a0018 | a0001c0005a0018c0014 | a0001c0005t0003a0001c0005t0012a0018c0014t0017 | a0001c0005t0003g0102 a0001c0005t0012g0008 a0018c0014t0017g0088 |
3 | 273 | 0.0110 | -12 | c.275 others(31): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 15/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36204987 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01358.hp2 HG01361.hp2 |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0003a0005c0011t0003 | a0001c0001t0003g0239 a0001c0001t0003g0242 a0005c0011t0003g0185 |
3 | 16 | 0.1875 | -12 | c.148 others(31): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 6/32 | chr4 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141654147 | ACCCCCGT others(5): Show |
A | conservative_inframe_deletion | MODERATE | HG01070.hp1 HG01071.hp2 |
a0009 | a0009c0023 | a0009c0023t0001 | a0009c0023t0001g0033 | 2 | 414 | 0.0048 | -12 | c.442 others(21): Show |
p.Gln others(15): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 33/33 | 4512/5258 | 4426/4635 | 1476/1544 | chr5 | TogoVar | |||
ARAP3_chr5_141648402_141687230 | 141683105 | TTGTGTGT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG03471.hp1 HG04115.hp2 |
a0001a0010 | a0001c0003a0001c0008a0010c0047 | a0001c0003t0001a0001c0008t0001a0010c0047t0001 | a0001c0003t0001g0006 a0001c0008t0001g0209 a0010c0047t0001g0101 |
3 | 170 | 0.0176 | -12 | c.-96 others(21): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 876 | chr5 | TogoVar | |||||||
ARCN1_chr11_118567409_118608033 | 118578164 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01167.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0004a0001c0002t0022others(1): Show | a0001c0001t0001g0172 a0001c0001t0001g0258 a0001c0001t0001g0283 others(6): Show |
9 | 95 | 0.0947 | -12 | c.4-3 others(25): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARCN1_chr11_118567409_118608033 | 118578874 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(57): Show |
73 | 79 | 0.9241 | -12 | c.4-2 others(25): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARCN1_chr11_118567409_118608033 | 118607329 | TGTGGTGG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02922.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0011others(1): Show | a0001c0001t0001g0149 a0001c0001t0001g0282 a0001c0002t0004g0125 others(3): Show |
6 | 31 | 0.1935 | -12 | c.*66 others(23): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 4297 | chr11 | TogoVar | |||||||
AREL1_chr14_74656256_74718080 | 74671321 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0027 a0001c0001t0010g0040 a0001c0001t0010g0042 others(2): Show |
5 | 176 | 0.0284 | -12 | c.149 others(27): Show |
AREL1 | ENSG00000119682.18 | transcript | ENST00000356357.9 | protein_coding | 12/19 | chr14 | TogoVar | |||||||
AREL1_chr14_74656256_74718080 | 74672736 | CAAACAAA others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0059 a0001c0005t0009g0060 a0001c0005t0009g0061 others(1): Show |
4 | 372 | 0.0108 | -12 | c.142 others(27): Show |
AREL1 | ENSG00000119682.18 | transcript | ENST00000356357.9 | protein_coding | 11/19 | chr14 | TogoVar |