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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARL6IP5_chr3_69079937_69111092 | 69101316 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02135.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004a0001c0002t0002g0037a0001c0002t0002g0118others(7): Show | 16 | 434 | 0.0369 | 15 | c.177 others(30): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARL9_chr4_56500791_56529453 | 56528969 | G | GCTGTGGG others(8): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 416 | 0.0024 | 15 | c.*50 others(26): Show |
ARL9 | ENSG00000196503.5 | transcript | ENST00000640821.3 | protein_coding | 4517 | chr4 | TogoVar | ||||||
ARMC12_chr6_35732032_35754079 | 35747057 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0241 | 2 | 438 | 0.0046 | 15 | c.445 others(30): Show |
ARMC12 | ENSG00000157343.9 | transcript | ENST00000373866.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARMC12_chr6_35732032_35754079 | 35748735 | C | CCTGGTCA others(8): Show |
conservative_inframe_insertion | MODERATE | NA18975.hp2 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0177 | 1 | 438 | 0.0023 | 15 | c.889 others(22): Show |
p.Leu others(13): Show |
ARMC12 | ENSG00000157343.9 | transcript | ENST00000373866.4 | protein_coding | 6/6 | 981/1309 | 904/1023 | 302/340 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
ARMC1_chr8_65597458_65639177 | 65620799 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184a0001c0001t0003g0197a0001c0001t0003g0199others(2): Show | 5 | 390 | 0.0128 | 15 | c.275 others(32): Show |
ARMC1 | ENSG00000104442.10 | transcript | ENST00000276569.8 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
ARMC1_chr8_65597458_65639177 | 65623307 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01109.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0017a0001c0002t0004others(2): Show | a0001c0001t0005g0300a0001c0001t0005g0302a0001c0001t0005g0303others(21): Show | 25 | 390 | 0.0641 | 15 | c.184 others(30): Show |
ARMC1 | ENSG00000104442.10 | transcript | ENST00000276569.8 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
ARMC1_chr8_65597458_65639177 | 65624498 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(109): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(88): Show | 112 | 390 | 0.2872 | 15 | c.184 others(32): Show |
ARMC1 | ENSG00000104442.10 | transcript | ENST00000276569.8 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
ARMC1_chr8_65597458_65639177 | 65638295 | T | TTTTTTGG others(8): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 390 | 0.0026 | 15 | c.-43 others(26): Show |
ARMC1 | ENSG00000104442.10 | transcript | ENST00000276569.8 | protein_coding | 4119 | chr8 | TogoVar | ||||||
ARMC2_chr6_108843422_108979476 | 108890189 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208a0001c0001t0001g0230 | 2 | 290 | 0.0069 | 15 | c.672 others(32): Show |
ARMC2 | ENSG00000118690.13 | transcript | ENST00000392644.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARMC6_chr19_19028603_19063176 | 19045493 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 322 | 0.0031 | 15 | c.279 others(32): Show |
ARMC6 | ENSG00000105676.14 | transcript | ENST00000535612.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARMC7_chr17_75104969_75135272 | 75113007 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01516.hp1 HG01884.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0004 | a0001c0001t0001g0042a0001c0001t0001g0162a0001c0001t0001g0202others(10): Show | 16 | 402 | 0.0398 | 15 | c.235 others(32): Show |
ARMC7 | ENSG00000125449.7 | transcript | ENST00000245543.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARMC8_chr3_138182301_138303373 | 138201436 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 246 | 0.0041 | 15 | c.46- others(30): Show |
ARMC8 | ENSG00000114098.18 | transcript | ENST00000469044.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARMC8_chr3_138182301_138303373 | 138252746 | G | GCCCCCCC others(8): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 246 | 0.0041 | 15 | c.113 others(34): Show |
ARMC8 | ENSG00000114098.18 | transcript | ENST00000469044.6 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARMC8_chr3_138182301_138303373 | 138271798 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 246 | 0.0041 | 15 | c.148 others(34): Show |
ARMC8 | ENSG00000114098.18 | transcript | ENST00000469044.6 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARMC8_chr3_138182301_138303373 | 138271798 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0022 | 2 | 246 | 0.0081 | 15 | c.148 others(34): Show |
ARMC8 | ENSG00000114098.18 | transcript | ENST00000469044.6 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARMCX4_chrX_101480456_101500807 | 101486947 | T | TAAATAAA others(8): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0021 | 1 | 326 | 0.0031 | 15 | c.-36 others(32): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARMH1_chr1_44669714_44730591 | 44670169 | T | TAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01069.hp1 HG01071.hp1 others(43): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0010a0001c0001t0001g0185a0001c0001t0001g0187others(41): Show | 46 | 288 | 0.1597 | 15 | c.-47 others(26): Show |
ARMH1 | ENSG00000198520.12 | transcript | ENST00000535358.6 | protein_coding | 4544 | chr1 | TogoVar | ||||||
ARMH3_chr10_101840599_102061173 | 101946071 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114a0001c0001t0002g0226 | 2 | 262 | 0.0076 | 15 | c.170 others(34): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 22/25 | chr10 | TogoVar | ||||||
ARNT2_chr15_80399382_80602933 | 80426058 | C | CGAAAAGA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0025 | a0001c0001t0006g0010a0001c0001t0025g0009 | 2 | 268 | 0.0075 | 15 | c.31+ others(32): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ARNT2_chr15_80399382_80602933 | 80433233 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0016others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0115a0001c0001t0001g0235others(4): Show | 7 | 268 | 0.0261 | 15 | c.32- others(32): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ARPC1A_chr7_99320898_99371262 | 99344920 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 316 | 0.0032 | 15 | c.392 others(30): Show |
ARPC1A | ENSG00000241685.10 | transcript | ENST00000262942.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ARPC1A_chr7_99320898_99371262 | 99353113 | T | TTTATGTT others(8): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 316 | 0.0032 | 15 | c.501 others(30): Show |
ARPC1A | ENSG00000241685.10 | transcript | ENST00000262942.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ARPC3_chr12_110429823_110455337 | 110450831 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 HG03453.hp1 HG03486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0143others(4): Show | 7 | 334 | 0.0210 | 15 | c.-57 others(24): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 495 | chr12 | TogoVar | ||||||
ARPP21_chr3_35634525_35799486 | 35667841 | A | AAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01934.hp2 HG02451.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0218a0001c0001t0001g0220a0001c0001t0001g0222others(1): Show | 4 | 266 | 0.0150 | 15 | c.-21 others(36): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARPP21_chr3_35634525_35799486 | 35667885 | A | AGAAGAAG others(8): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0158 | 1 | 266 | 0.0038 | 15 | c.-21 others(36): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARPP21_chr3_35634525_35799486 | 35668027 | A | AAGAAGAA others(8): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0139a0001c0004t0001g0141 | 2 | 266 | 0.0075 | 15 | c.-21 others(36): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARRB1_chr11_75255122_75356661 | 75275123 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01123.hp2 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0013a0001c0001t0001g0039a0001c0001t0001g0043others(43): Show | 46 | 320 | 0.1438 | 15 | c.777 others(30): Show |
ARRB1 | ENSG00000137486.17 | transcript | ENST00000420843.7 | protein_coding | 10/15 | chr11 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4709638 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(105): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(49): Show | 108 | 432 | 0.2500 | 15 | c.-10 others(26): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 993 | chr17 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4715694 | G | GACACACC others(8): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 432 | 0.0023 | 15 | c.55- others(28): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARRB2_chr17_4705632_4726497 | 4724411 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG02071.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0002t0001g0008 | 4 | 432 | 0.0093 | 15 | c.*33 others(26): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 2915 | chr17 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4724411 | C | CACAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 432 | 0.0023 | 15 | c.*33 others(26): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 2915 | chr17 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137600821 | A | AAATAATA others(8): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0005g0008 | 2 | 338 | 0.0059 | 15 | c.-48 others(26): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4864 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601259 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0020 | 2 | 338 | 0.0059 | 15 | c.-44 others(26): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4426 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601259 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0061 | 2 | 338 | 0.0059 | 15 | c.-44 others(26): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4426 | chr9 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4894510 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG01071.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0012a0001c0001t0001g0289a0001c0001t0001g0294others(17): Show | 21 | 412 | 0.0510 | 15 | c.459 others(32): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4903029 | C | CTTTTTCA others(8): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0287 | 2 | 412 | 0.0049 | 15 | c.-20 others(24): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 134 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4903029 | C | CTTTTTCA others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(184): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(180): Show | 187 | 412 | 0.4539 | 15 | c.-20 others(24): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 134 | chr19 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78787135 | T | TATCTATC others(8): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0308 | 1 | 360 | 0.0028 | 15 | c.121 others(34): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841132 | G | GTACTACT others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01243.hp2 others(6): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0004 | a0001c0003t0002a0001c0003t0012a0002c0002t0003others(5): Show | a0001c0003t0002g0270a0001c0003t0012g0166a0002c0002t0003g0306others(6): Show | 9 | 360 | 0.0250 | 15 | c.114 others(34): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTAATAAT others(8): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0154 | 1 | 360 | 0.0028 | 15 | c.114 others(34): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTAAT others(8): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0085 | 1 | 360 | 0.0028 | 15 | c.114 others(34): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02109.hp1 HG02976.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0002 | a0001c0003t0002a0001c0005t0074a0001c0005t0075others(5): Show | a0001c0003t0002g0082a0001c0005t0074g0073a0001c0005t0075g0112others(5): Show | 8 | 360 | 0.0222 | 15 | c.114 others(34): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01109.hp1 others(12): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0001c0003t0009a0001c0003t0010others(9): Show | a0001c0003t0002g0253a0001c0003t0009g0281a0001c0003t0010g0157others(12): Show | 15 | 360 | 0.0417 | 15 | c.114 others(34): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01346.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0003t0006others(13): Show | a0001c0001t0002g0317a0001c0003t0002g0074a0001c0003t0006g0212others(17): Show | 20 | 360 | 0.0556 | 15 | c.114 others(34): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3036818 | T | TATATAAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 193 | 0.0052 | 15 | c.-48 others(26): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4652 | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3077789 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01069.hp1 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0013others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0049a0001c0001t0001g0050others(48): Show | 52 | 193 | 0.2694 | 15 | c.283 others(32): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSG_chr17_68286495_68425814 | 68379421 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0177 | 1 | 304 | 0.0033 | 15 | c.983 others(32): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARSG_chr17_68286495_68425814 | 68393867 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0254 | 1 | 304 | 0.0033 | 15 | c.109 others(34): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3036818 | T | TATATAAT others(8): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0217 | 1 | 248 | 0.0040 | 15 | c.*34 others(26): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2708 | chrX | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663033 | A | ATCATCTC others(8): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01884.hp1 HG02055.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0072others(6): Show | 17 | 394 | 0.0432 | 15 | c.887 others(32): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |