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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARMC12_chr6_35732032_35754079 | 35748735 | C | CCTGGTCA others(8): Show |
conservative_inframe_insertion | MODERATE | NA18975.hp2 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0034 | 1 | 436 | 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 | a0001c0001t0003g0184 a0001c0001t0003g0197 a0001c0001t0003g0199 others(2): Show |
5 | 192 | 0.0260 | 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 | a0001c0001t0005a0001c0002t0004 | a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0302 others(21): Show |
25 | 132 | 0.1894 | 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(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(88): Show |
112 | 285 | 0.3930 | 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 | 388 | 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 | a0001c0001t0001g0205 a0001c0001t0001g0234 |
2 | 43 | 0.0465 | 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 | a0001c0001t0002g0109 | 1 | 64 | 0.0156 | 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 | a0001c0001t0001g0042 a0001c0001t0001g0160 a0001c0001t0001g0200 others(10): Show |
16 | 323 | 0.0495 | 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 | a0001c0001t0001g0210 | 1 | 15 | 0.0667 | 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 | a0001c0001t0001g0118 | 1 | 14 | 0.0714 | 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 | a0001c0001t0003g0008 | 1 | 210 | 0.0048 | 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 | a0001c0001t0001g0020 a0001c0001t0001g0021 |
2 | 211 | 0.0095 | 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 | a0003c0003t0001g0019 | 1 | 286 | 0.0035 | 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 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0010 a0001c0001t0001g0185 a0001c0001t0001g0187 others(41): Show |
46 | 197 | 0.2335 | 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 | a0001c0001t0002g0114 a0001c0001t0002g0226 |
2 | 49 | 0.0408 | 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 | a0001c0001t0006g0007 a0001c0001t0025g0006 |
2 | 241 | 0.0083 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0116 a0001c0001t0001g0235 others(4): Show |
7 | 175 | 0.0400 | 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 | a0001c0001t0001g0180 | 1 | 133 | 0.0075 | 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 | a0001c0001t0001g0112 | 1 | 85 | 0.0118 | 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 | a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0120 others(3): Show |
7 | 18 | 0.3889 | 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 | a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 others(1): Show |
4 | 153 | 0.0261 | 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 | 206 | 0.0049 | 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 | a0001c0001t0001g0139 a0001c0004t0001g0141 |
2 | 251 | 0.0080 | 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 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0044 others(43): Show |
46 | 94 | 0.4894 | 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(104): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(35): Show |
107 | 164 | 0.6524 | 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 | a0001c0001t0001g0125 | 1 | 337 | 0.0030 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0001g0005 |
4 | 83 | 0.0482 | 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 | a0001c0002t0001g0023 | 1 | 80 | 0.0125 | 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 | a0001c0001t0001g0001 a0001c0001t0005g0008 |
2 | 54 | 0.0370 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0020 |
2 | 149 | 0.0134 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0061 |
2 | 149 | 0.0134 | 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 | a0001c0001t0001g0022 a0001c0001t0001g0277 a0001c0001t0001g0280 others(17): Show |
21 | 27 | 0.7778 | 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 | a0001c0001t0001g0099 a0001c0001t0001g0274 |
2 | 219 | 0.0091 | 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(183): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
186 | 403 | 0.4615 | 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 | 358 | 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 | a0001c0003t0002g0266 a0001c0003t0012g0112 a0002c0002t0003g0306 others(6): Show |
9 | 283 | 0.0318 | 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 | a0003c0004t0001g0245 | 1 | 114 | 0.0088 | 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 | a0002c0002t0002g0084 | 1 | 114 | 0.0088 | 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 | a0001c0003t0002g0081 a0001c0005t0074g0072 a0001c0005t0075g0199 others(5): Show |
8 | 121 | 0.0661 | 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 | a0001c0003t0002g0209 a0001c0003t0009g0281 a0001c0003t0010g0248 others(12): Show |
15 | 128 | 0.1172 | 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 | a0001c0001t0002g0317 a0001c0003t0002g0073 a0001c0003t0006g0158 others(17): Show |
20 | 133 | 0.1504 | 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 | a0001c0001t0001g0020 | 1 | 191 | 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 | a0001c0001t0001a0001c0001t0004a0002c0003t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0052 others(47): Show |
52 | 87 | 0.5977 | 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 | 77 | 0.0130 | 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 | 212 | 0.0047 | 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 | a0002c0004t0002g0194 | 1 | 245 | 0.0041 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0067 others(5): Show |
17 | 337 | 0.0504 | 15 | c.887 others(32): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663089 | A | ATCATCTC others(8): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02027.hp2 HG02040.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0001a0005c0006t0001 | a0001c0001t0001g0079 a0001c0001t0001g0097 a0001c0001t0001g0272 others(5): Show |
8 | 187 | 0.0428 | 15 | c.887 others(30): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230986668 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 145 | 0.0069 | 15 | c.175 others(32): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCAG others(8): Show |
disruptive_inframe_insertion | MODERATE | HG01934.hp1 HG02723.hp2 HG02738.hp1 others(3): Show |
a0010 | a0010c0014a0010c0035 | a0010c0014t0001a0010c0014t0003a0010c0014t0013others(1): Show | a0010c0014t0001g0077 a0010c0014t0001g0099 a0010c0014t0003g0064 others(3): Show |
6 | 30 | 0.2000 | 15 | c.225 others(22): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar |