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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARID4B_chr1_235161902_235333179 | 235236836 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 272 | 0.0037 | 22 | c.586 others(39): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 8/23 | chr1 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235236838 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01167.hp1 HG01256.hp1 others(21): Show |
a0001a0008 | a0001c0002a0008c0017 | a0001c0002t0001a0001c0002t0003a0008c0017t0001 | a0001c0002t0001g0010a0001c0002t0001g0013a0001c0002t0001g0016others(21): Show | 24 | 272 | 0.0882 | 22 | c.586 others(39): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 8/23 | chr1 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235236838 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 272 | 0.0037 | 22 | c.586 others(39): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 8/23 | chr1 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235236862 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 272 | 0.0037 | 22 | c.586 others(39): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 8/23 | chr1 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235236862 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 272 | 0.0037 | 22 | c.586 others(39): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 8/23 | chr1 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235236862 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 272 | 0.0037 | 22 | c.586 others(39): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 8/23 | chr1 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235236862 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 272 | 0.0037 | 22 | c.586 others(39): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 8/23 | chr1 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235255220 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01891.hp2 HG02895.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0097a0002c0003t0001g0109a0002c0003t0001g0111others(2): Show | 5 | 272 | 0.0184 | 22 | c.274 others(37): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235255263 | A | ATAGATAG others(15): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 272 | 0.0037 | 22 | c.274 others(37): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235255263 | A | ATAGATCT others(15): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02015.hp1 HG02976.hp2 others(7): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0001a0001c0014t0001 | a0001c0002t0001g0023a0001c0002t0001g0029a0001c0002t0001g0046others(7): Show | 10 | 272 | 0.0368 | 22 | c.274 others(37): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
ARID5B_chr10_61896699_62101944 | 61940923 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0127 | 1 | 242 | 0.0041 | 22 | c.502 others(37): Show |
ARID5B | ENSG00000150347.17 | transcript | ENST00000279873.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ARID5B_chr10_61896699_62101944 | 62013815 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18963.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0176a0001c0001t0002g0165a0001c0001t0004g0132 | 3 | 242 | 0.0124 | 22 | c.733 others(41): Show |
ARID5B | ENSG00000150347.17 | transcript | ENST00000279873.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ARID5B_chr10_61896699_62101944 | 62087298 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0138 | 1 | 242 | 0.0041 | 22 | c.139 others(41): Show |
ARID5B | ENSG00000150347.17 | transcript | ENST00000279873.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ARID5B_chr10_61896699_62101944 | 62099312 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02080.hp2 HG03688.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0022 | a0001c0001t0001g0062a0001c0001t0001g0066a0001c0001t0001g0072others(4): Show | 7 | 242 | 0.0289 | 22 | c.*62 others(33): Show |
ARID5B | ENSG00000150347.17 | transcript | ENST00000279873.12 | protein_coding | 2369 | chr10 | TogoVar | ||||||
ARK2N_chr18_46169034_46271992 | 46250491 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00609.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0020a0001c0001t0002g0053a0001c0001t0002g0149others(33): Show | 36 | 320 | 0.1125 | 22 | c.899 others(39): Show |
ARK2N | ENSG00000152242.11 | transcript | ENST00000615052.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ARK2N_chr18_46169034_46271992 | 46259885 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01358.hp2 HG02080.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0053a0001c0001t0002g0204a0001c0001t0005g0137others(2): Show | 5 | 320 | 0.0156 | 22 | c.102 others(41): Show |
ARK2N | ENSG00000152242.11 | transcript | ENST00000615052.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ARL14EP_chr11_30318104_30343223 | 30334208 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 | 1 | 400 | 0.0025 | 22 | c.554 others(39): Show |
ARL14EP | ENSG00000152219.5 | transcript | ENST00000282032.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARL15_chr5_53878942_54315573 | 53991468 | G | GGAGGCGG others(15): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01070.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0065a0001c0001t0001g0071a0001c0001t0001g0072others(52): Show | 55 | 206 | 0.2670 | 22 | c.463 others(43): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
ARL15_chr5_53878942_54315573 | 53991473 | C | CGGAGGTT others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18977.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0046 | 2 | 206 | 0.0097 | 22 | c.463 others(43): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
ARL15_chr5_53878942_54315573 | 53991474 | G | GGAGGTTG others(15): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 206 | 0.0049 | 22 | c.463 others(43): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
ARL15_chr5_53878942_54315573 | 54092047 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01255.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0063a0001c0001t0001g0183a0001c0001t0001g0184others(1): Show | 4 | 206 | 0.0194 | 22 | c.462 others(41): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
ARL3_chr10_102668731_102719397 | 102708886 | T | TAATATAT others(15): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0323 | 1 | 424 | 0.0024 | 22 | c.4-3 others(35): Show |
ARL3 | ENSG00000138175.9 | transcript | ENST00000260746.6 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
ARL6IP5_chr3_69079937_69111092 | 69110853 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0244 | 1 | 434 | 0.0023 | 22 | c.*62 others(33): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | ||||||
ARL6IP5_chr3_69079937_69111092 | 69110853 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0228 | 1 | 434 | 0.0023 | 22 | c.*62 others(33): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | ||||||
ARMC10_chr7_103070140_103104759 | 103099575 | C | CGTGTGTG others(15): Show |
3_prime_UTR_variant | MODIFIER | HG04228.hp2 NA19058.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0042a0002c0002t0042 | a0001c0001t0042g0001a0002c0002t0042g0003 | 2 | 390 | 0.0051 | 22 | c.*10 others(33): Show |
ARMC10 | ENSG00000170632.14 | transcript | ENST00000323716.8 | protein_coding | 7/7 | 1041 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
ARMC1_chr8_65597458_65639177 | 65618595 | A | AATTTCAG others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01256.hp2 HG01258.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0012 | a0001c0002t0002g0004a0001c0002t0002g0053a0001c0002t0002g0068others(3): Show | 9 | 390 | 0.0231 | 22 | c.275 others(39): Show |
ARMC1 | ENSG00000104442.10 | transcript | ENST00000276569.8 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
ARMC9_chr2_231193631_231381848 | 231328814 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(13): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0011others(10): Show | a0001c0002t0002g0069a0001c0002t0002g0098a0001c0002t0002g0112others(13): Show | 16 | 200 | 0.0800 | 22 | c.177 others(41): Show |
ARMC9 | ENSG00000135931.19 | transcript | ENST00000611582.5 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARMH3_chr10_101840599_102061173 | 101935174 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02132.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0024a0001c0001t0001g0039a0001c0001t0001g0053others(5): Show | 8 | 262 | 0.0305 | 22 | c.178 others(41): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 23/25 | chr10 | TogoVar | ||||||
ARMH3_chr10_101840599_102061173 | 101944273 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 | 1 | 262 | 0.0038 | 22 | c.170 others(41): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 22/25 | chr10 | TogoVar | ||||||
ARMH4_chr14_57995761_58157213 | 58015892 | A | AAATAAAA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00741.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(8): Show | a0001c0001t0006a0001c0001t0026a0001c0008t0006others(10): Show | a0001c0001t0006g0011a0001c0001t0006g0012a0001c0001t0006g0046others(27): Show | 30 | 258 | 0.1163 | 22 | c.209 others(41): Show |
ARMH4 | ENSG00000139971.15 | transcript | ENST00000267485.7 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
ARNT2_chr15_80399382_80602933 | 80516828 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02258.hp1 HG02523.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0063a0001c0001t0001g0224a0001c0001t0002g0153others(6): Show | 9 | 268 | 0.0336 | 22 | c.877 others(39): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ARNT_chr1_150804713_150881599 | 150807005 | T | TTCTCTCT others(15): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01255.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009a0001c0002t0026 | a0001c0002t0001g0148a0001c0002t0001g0196a0001c0002t0001g0203others(6): Show | 9 | 326 | 0.0276 | 22 | c.*50 others(33): Show |
ARNT | ENSG00000143437.21 | transcript | ENST00000358595.10 | protein_coding | 2707 | chr1 | TogoVar | ||||||
ARPC2_chr2_218212189_218259348 | 218215618 | T | TAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01069.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(29): Show | 41 | 332 | 0.1235 | 22 | c.-16 others(33): Show |
ARPC2 | ENSG00000163466.16 | transcript | ENST00000315717.10 | protein_coding | 1570 | chr2 | TogoVar | ||||||
ARPC3_chr12_110429823_110455337 | 110430927 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 334 | 0.0030 | 22 | c.*42 others(33): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 3895 | chr12 | TogoVar | ||||||
ARPC3_chr12_110429823_110455337 | 110450831 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 NA18747.hp2 NA18942.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0013others(4): Show | 8 | 334 | 0.0240 | 22 | c.-57 others(31): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 495 | chr12 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4709640 | A | AAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 432 | 0.0023 | 22 | c.-10 others(33): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 991 | chr17 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4709643 | A | AAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 432 | 0.0023 | 22 | c.-10 others(33): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 988 | chr17 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4715486 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 432 | 0.0023 | 22 | c.54+ others(35): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARRDC4_chr15_97955703_97978833 | 97974534 | A | ATGTGTAG others(15): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG02040.hp2 NA18981.hp1 others(1): Show |
a0001a0011 | a0001c0001a0011c0023 | a0001c0001t0001a0001c0001t0049a0011c0023t0001 | a0001c0001t0001g0001a0001c0001t0001g0046a0001c0001t0049g0001others(1): Show | 4 | 422 | 0.0095 | 22 | c.*33 others(33): Show |
ARRDC4 | ENSG00000140450.9 | transcript | ENST00000268042.7 | protein_coding | 702 | chr15 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4886696 | C | CTCTCTCT others(15): Show |
downstream_gene_variant | MODIFIER | NA19011.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0135 | 2 | 412 | 0.0049 | 22 | c.*43 others(33): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3740 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4886696 | C | CTCTCTCT others(15): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 412 | 0.0024 | 22 | c.*43 others(33): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3740 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4886696 | C | CTCTCTCT others(15): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 412 | 0.0024 | 22 | c.*43 others(33): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3740 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4886710 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01256.hp2 NA19005.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0125others(1): Show | 4 | 412 | 0.0097 | 22 | c.*43 others(33): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3726 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4894510 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0288 | 2 | 412 | 0.0049 | 22 | c.459 others(39): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
ARSA_chr22_50617754_50633152 | 50628205 | G | GGGGGCGG others(15): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG02683.hp2 HG03704.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0022a0001c0018t0004 | a0001c0001t0022g0029a0001c0018t0004g0053 | 3 | 460 | 0.0065 | 22 | c.-42 others(31): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 54 | chr22 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78793110 | T | TCCTGTTT others(15): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG01884.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0002a0001c0005t0017a0001c0005t0032others(4): Show | a0001c0001t0002g0277a0001c0005t0017g0003a0001c0005t0017g0010others(7): Show | 10 | 360 | 0.0278 | 22 | c.121 others(43): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78972543 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0057 | 1 | 360 | 0.0028 | 22 | c.313 others(39): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78986647 | T | TGTTGTAT others(15): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(197): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(93): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0027others(197): Show | 200 | 360 | 0.5556 | 22 | c.-14 others(33): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1338 | chr5 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68366673 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0199 | 1 | 304 | 0.0033 | 22 | c.705 others(39): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3036853 | T | TATATAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0006 | a0006c0018 | a0006c0018t0008 | a0006c0018t0008g0023 | 1 | 248 | 0.0040 | 22 | c.*34 others(33): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2743 | chrX | TogoVar |