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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARL15_chr5_53878942_54315573 | 54029306 | TACCACCA others(23): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0144 | 2 | 206 | 0.0097 | -30 | c.462 others(49): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
ARMC3_chr10_22923053_23043523 | 23010434 | CCCTCCCC others(23): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(117): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0003c0005t0004others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011others(116): Show | 120 | 302 | 0.3974 | -30 | c.204 others(49): Show |
ARMC3 | ENSG00000165309.14 | transcript | ENST00000298032.10 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ARMC7_chr17_75104969_75135272 | 75117795 | TTCTGAAA others(23): Show |
T | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 402 | 0.0025 | -30 | c.235 others(47): Show |
ARMC7 | ENSG00000125449.7 | transcript | ENST00000245543.6 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
ARMC8_chr3_138182301_138303373 | 138201436 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01884.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(18): Show | 21 | 246 | 0.0854 | -30 | c.46- others(45): Show |
ARMC8 | ENSG00000114098.18 | transcript | ENST00000469044.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARMH3_chr10_101840599_102061173 | 101944261 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 262 | 0.0038 | -30 | c.170 others(49): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 22/25 | chr10 | TogoVar | ||||||
ARMH3_chr10_101840599_102061173 | 101944263 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0065a0001c0001t0001g0066others(2): Show | 5 | 262 | 0.0191 | -30 | c.170 others(49): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 22/25 | chr10 | TogoVar | ||||||
ARMH3_chr10_101840599_102061173 | 101944265 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 262 | 0.0038 | -30 | c.170 others(49): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 22/25 | chr10 | TogoVar | ||||||
ARMH3_chr10_101840599_102061173 | 101944267 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 262 | 0.0038 | -30 | c.170 others(49): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 22/25 | chr10 | TogoVar | ||||||
ARMH3_chr10_101840599_102061173 | 101944271 | TATAGAGA others(23): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003a0001c0001t0007g0004a0001c0001t0007g0005 | 3 | 262 | 0.0115 | -30 | c.170 others(49): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 22/25 | chr10 | TogoVar | ||||||
ARMT1_chr6_151447466_151475101 | 151450456 | GGCCAGCC others(23): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG03491.hp1 HG03942.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0056a0002c0003t0001g0003 | 3 | 418 | 0.0072 | -30 | c.-20 others(41): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 2009 | chr6 | TogoVar | ||||||
ARPP21_chr3_35634525_35799486 | 35768079 | CGTGTGTG others(23): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG01243.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009others(7): Show | 10 | 266 | 0.0376 | -30 | c.213 others(51): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARRDC1_chr9_137600686_137620360 | 137601209 | TTATATAT others(23): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01192.hp2 HG01361.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006a0002c0002t0001g0082 | 3 | 338 | 0.0089 | -30 | c.-45 others(41): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4476 | chr9 | TogoVar | ||||||
ARRDC4_chr15_97955703_97978833 | 97975428 | GACATTTT others(23): Show |
G | downstream_gene_variant | MODIFIER | NA18993.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0027 | 1 | 422 | 0.0024 | -30 | c.*42 others(41): Show |
ARRDC4 | ENSG00000140450.9 | transcript | ENST00000268042.7 | protein_coding | 1596 | chr15 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76071270 | AGAGGCTG others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0237others(2): Show | 7 | 392 | 0.0179 | -30 | c.-35 others(41): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 3438 | chr4 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14830649 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG02717.hp2 HG02886.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0004a0002c0002t0004others(2): Show | a0001c0001t0001g0190a0001c0001t0004g0241a0001c0001t0004g0309others(4): Show | 7 | 380 | 0.0184 | -30 | c.854 others(47): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67546514 | TGGCGGCG others(23): Show |
T | disruptive_inframe_deletion | MODERATE | HG01255.hp1 | a0045 | a0045c0045 | a0045c0045t0049 | a0045c0045t0049g0137 | 1 | 193 | 0.0052 | -30 | c.139 others(39): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2517/10667 | 1391/2763 | 464/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTTTT others(23): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 362 | 0.0028 | -30 | c.886 others(47): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH1_chr8_18050992_18089107 | 18067103 | ACCTGTGC others(23): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(165): Show |
a0001a0005 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(115): Show | 168 | 420 | 0.4000 | -30 | c.382 others(44): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130153332 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0001g0016a0001c0001t0008g0011a0001c0001t0008g0017others(14): Show | 17 | 308 | 0.0552 | -30 | c.101 others(47): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 12/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130256755 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 308 | 0.0033 | -30 | c.187 others(49): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP3_chr1_23423563_23489179 | 23425176 | CGTGTGTG others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG02258.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0167others(2): Show | 5 | 346 | 0.0145 | -30 | c.*46 others(41): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 3386 | chr1 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5662565 | GGAGAAGA others(23): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134a0001c0001t0002g0135a0001c0001t0002g0136 | 3 | 446 | 0.0067 | -30 | c.43+ others(45): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620526 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG06807.hp2 NA18945.hp2 NA18952.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296a0001c0002t0001g0335a0001c0002t0001g0336 | 3 | 380 | 0.0079 | -30 | c.451 others(47): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123620528 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01099.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0026others(1): Show | a0001c0002t0001g0010a0001c0002t0001g0017a0001c0002t0001g0019others(15): Show | 18 | 380 | 0.0474 | -30 | c.451 others(47): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123620530 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00323.hp2 NA18975.hp2 NA19000.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0277a0001c0002t0001g0328a0001c0002t0002g0284 | 3 | 380 | 0.0079 | -30 | c.451 others(47): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB4_chr7_95480943_95545233 | 95515237 | TTCTTTCT others(23): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0084 | 1 | 388 | 0.0026 | -30 | c.488 others(49): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB5_chr4_176208673_176274222 | 176219545 | TATGATAT others(23): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0178 | 2 | 410 | 0.0049 | -30 | c.670 others(47): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72218165 | AATATATA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02630.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0179a0002c0002t0001g0192 | 2 | 216 | 0.0093 | -30 | c.-20 others(41): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1890 | chr10 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29818403 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | NA19003.hp2 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234a0001c0001t0001g0235 | 2 | 372 | 0.0054 | -30 | c.542 others(47): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 5/19 | chr22 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608703 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | NA18971.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0217a0001c0001t0004g0198 | 2 | 314 | 0.0064 | -30 | c.478 others(49): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASDURF_chr2_189656459_189671401 | 189665596 | GTGTATAT others(23): Show |
G | intron_variant | MODIFIER | HG02735.hp2 HG03491.hp1 HG03710.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0043a0001c0001t0002g0107 | 12 | 340 | 0.0353 | -30 | c.220 others(45): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASGR1_chr17_7168431_7184370 | 7176241 | ACACACAC others(23): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0051a0001c0001t0001g0089 | 6 | 442 | 0.0136 | -30 | c.355 others(45): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 5/8 | chr17 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155490968 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0096 | 1 | 182 | 0.0055 | -30 | c.421 others(47): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33192384 | AAAAACAA others(23): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01074.hp2 HG02451.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0007a0001c0002t0002a0001c0004t0008 | a0001c0001t0007g0235a0001c0002t0002g0113a0001c0004t0008g0143 | 3 | 240 | 0.0125 | -30 | c.709 others(49): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC5_chr4_155824729_155871277 | 155853554 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(302): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(156): Show | 305 | 334 | 0.9132 | -30 | c.585 others(45): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1399175 | CAGGGCTG others(23): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0002a0005 | a0002c0014a0005c0027 | a0002c0014t0001a0005c0027t0001 | a0002c0014t0001g0177a0005c0027t0001g0175 | 2 | 185 | 0.0108 | -30 | c.*40 others(41): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 3963 | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665596 | GTGTATAT others(23): Show |
G | intron_variant | MODIFIER | HG02735.hp2 HG03491.hp1 HG03710.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0002g0110a0001c0002t0001g0047 | 12 | 340 | 0.0353 | -30 | c.-93 others(45): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26435710 | TAAAAGAA others(23): Show |
T | intron_variant | MODIFIER | HG03688.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 428 | 0.0047 | -30 | c.886 others(47): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62375428 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0336a0001c0001t0019g0339 | 2 | 370 | 0.0054 | -30 | c.492 others(49): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASTN1_chr1_176856067_177169712 | 176942820 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 112 | 0.0089 | -30 | c.237 others(49): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177098264 | AGTTGGTG others(23): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02965.hp1 HG02976.hp1 |
a0001a0002 | a0001c0002a0001c0003a0002c0011 | a0001c0002t0002a0001c0003t0002a0002c0011t0009 | a0001c0002t0002g0013a0001c0003t0002g0036a0002c0011t0009g0003 | 3 | 112 | 0.0268 | -30 | c.284 others(49): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116803496 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0064 | 1 | 102 | 0.0098 | -30 | c.239 others(49): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116803498 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01934.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(10): Show | a0001c0001t0002g0051a0001c0001t0005g0077a0001c0001t0005g0096others(11): Show | 14 | 102 | 0.1373 | -30 | c.239 others(49): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116803500 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG03471.hp1 |
a0001a0003 | a0001c0001a0003c0016 | a0001c0001t0015a0003c0016t0004 | a0001c0001t0015g0045a0003c0016t0004g0027 | 2 | 102 | 0.0196 | -30 | c.239 others(49): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117379150 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(3): Show | 6 | 306 | 0.0196 | -30 | c.105 others(47): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3879545 | GAAAGAAA others(23): Show |
G | upstream_gene_variant | MODIFIER | HG02886.hp1 HG02897.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0024others(1): Show | 4 | 384 | 0.0104 | -30 | c.-15 others(41): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1139 | chr19 | TogoVar | ||||||
ATF1_chr12_50759101_50826162 | 50774690 | GTTTATGA others(23): Show |
G | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 382 | 0.0026 | -30 | c.-6- others(45): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATF7IP_chr12_14360682_14507930 | 14494284 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 346 | 0.0029 | -30 | c.328 others(49): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82147771 | CAGGCTCT others(23): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0090 | 1 | 226 | 0.0044 | -30 | c.217 others(49): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG13_chr11_46612553_46679518 | 46622076 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | NA18971.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075a0001c0001t0003g0157 | 2 | 218 | 0.0092 | -30 | c.-70 others(47): Show |
ATG13 | ENSG00000175224.17 | transcript | ENST00000683050.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |