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 | 69110853 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0263 | 1 | 434 | 0.0023 | 27 | c.*62 others(38): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | ||||||
ARL6IP5_chr3_69079937_69111092 | 69110853 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02965.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0145a0001c0001t0001g0148a0001c0002t0002g0004others(3): Show | 6 | 434 | 0.0138 | 27 | c.*62 others(38): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | ||||||
ARMC10_chr7_103070140_103104759 | 103099592 | G | GTGTGTGT others(20): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0005 | 1 | 390 | 0.0026 | 27 | c.*10 others(38): Show |
ARMC10 | ENSG00000170632.14 | transcript | ENST00000323716.8 | protein_coding | 7/7 | 1041 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
ARMC9_chr2_231193631_231381848 | 231328814 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0088 | 1 | 200 | 0.0050 | 27 | c.177 others(46): 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(20): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 262 | 0.0038 | 27 | c.178 others(46): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 23/25 | chr10 | TogoVar | ||||||
ARMH3_chr10_101840599_102061173 | 102041090 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 262 | 0.0038 | 27 | c.-11 others(42): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 1/25 | chr10 | TogoVar | ||||||
ARMH4_chr14_57995761_58157213 | 58094329 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0231 | 1 | 258 | 0.0039 | 27 | c.208 others(46): Show |
ARMH4 | ENSG00000139971.15 | transcript | ENST00000267485.7 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
ARPC2_chr2_218212189_218259348 | 218215618 | T | TAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01261.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0043others(6): Show | 11 | 332 | 0.0331 | 27 | c.-16 others(38): Show |
ARPC2 | ENSG00000163466.16 | transcript | ENST00000315717.10 | protein_coding | 1570 | chr2 | TogoVar | ||||||
ARPC3_chr12_110429823_110455337 | 110450831 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 NA18962.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0076a0001c0001t0001g0139 | 3 | 334 | 0.0090 | 27 | c.-57 others(36): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 495 | chr12 | TogoVar | ||||||
ARPP21_chr3_35634525_35799486 | 35667841 | A | AAAGAAGA others(20): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 266 | 0.0038 | 27 | c.-21 others(48): 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(20): Show |
intron_variant | MODIFIER | HG02602.hp1 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062a0001c0002t0001g0104 | 2 | 266 | 0.0075 | 27 | c.-21 others(48): 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(20): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 266 | 0.0038 | 27 | c.-21 others(48): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARR3_chrX_70263334_70286840 | 70268296 | T | TGTGGGTA others(20): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0062 | 1 | 319 | 0.0031 | 27 | c.-10 others(36): Show |
ARR3 | ENSG00000120500.19 | transcript | ENST00000307959.9 | protein_coding | 37 | chrX | TogoVar | ||||||
ARSA_chr22_50617754_50633152 | 50621564 | T | TCCCCCCC others(20): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0006 | 1 | 460 | 0.0022 | 27 | c.*35 others(38): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 1189 | chr22 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841162 | C | CTAATAAT others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0003 | a0003c0004 | a0003c0004t0054 | a0003c0004t0054g0142 | 1 | 360 | 0.0028 | 27 | c.114 others(46): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTAATAAT others(20): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01358.hp2 HG02145.hp2 |
a0003 | a0003c0004 | a0003c0004t0003a0003c0004t0033a0003c0004t0072 | a0003c0004t0003g0283a0003c0004t0033g0282a0003c0004t0072g0323 | 3 | 360 | 0.0083 | 27 | c.114 others(46): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTAAT others(20): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001 | 2 | 360 | 0.0056 | 27 | c.114 others(46): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(20): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0352 | 1 | 360 | 0.0028 | 27 | c.114 others(46): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(20): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0070 | a0001c0003t0070g0251 | 1 | 360 | 0.0028 | 27 | c.114 others(46): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(20): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03471.hp2 HG03540.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0012a0001c0003t0022a0001c0005t0036 | a0001c0003t0012g0177a0001c0003t0022g0178a0001c0005t0036g0275 | 3 | 360 | 0.0083 | 27 | c.114 others(46): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(20): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0120 | 1 | 360 | 0.0028 | 27 | c.114 others(46): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3036889 | A | ATTATATA others(20): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0024 | 1 | 193 | 0.0052 | 27 | c.-48 others(38): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4581 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036889 | A | ATTATATA others(20): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0093a0001c0002t0006g0094 | 2 | 248 | 0.0081 | 27 | c.*35 others(38): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2779 | chrX | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102906276 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0088a0001c0001t0005g0096 | 2 | 362 | 0.0055 | 27 | c.*55 others(38): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102906276 | A | AAAAAAAT others(20): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 362 | 0.0028 | 27 | c.*55 others(38): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102906276 | A | AAAAATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 362 | 0.0028 | 27 | c.*55 others(38): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130071047 | A | AGAGAGAG others(20): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 308 | 0.0033 | 27 | c.270 others(46): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130072825 | G | GTGTGCGT others(20): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0249 | 1 | 308 | 0.0033 | 27 | c.270 others(46): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9254236 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0028 | 1 | 210 | 0.0048 | 27 | c.127 others(46): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9254236 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0090 | 1 | 210 | 0.0048 | 27 | c.127 others(46): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9254236 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0134 | 1 | 210 | 0.0048 | 27 | c.127 others(46): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASB11_chrX_15276697_15320640 | 15309967 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 306 | 0.0033 | 27 | c.181 others(44): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123637878 | T | TAAAAAAA others(20): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG01175.hp1 NA18981.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0012a0003c0006t0012 | a0001c0001t0012g0058a0001c0001t0012g0060a0001c0001t0012g0068others(3): Show | 6 | 380 | 0.0158 | 27 | c.*91 others(36): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 12/12 | 920 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
ASB5_chr4_176208673_176274222 | 176218347 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02970.hp1 others(1): Show |
a0001a0006 | a0001c0005a0006c0009 | a0001c0005t0001a0006c0009t0001 | a0001c0005t0001g0192a0001c0005t0001g0305a0001c0005t0001g0306others(1): Show | 4 | 410 | 0.0098 | 27 | c.671 others(44): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176218510 | T | TATATAAA others(20): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0192 | 1 | 410 | 0.0024 | 27 | c.671 others(44): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176218552 | T | TATATAAA others(20): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0143others(2): Show | 5 | 410 | 0.0122 | 27 | c.671 others(44): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176218621 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18947.hp2 NA18963.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0023a0001c0002t0001g0024others(4): Show | 9 | 410 | 0.0220 | 27 | c.671 others(44): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176218644 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0328 | 1 | 410 | 0.0024 | 27 | c.671 others(44): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72198354 | A | AGGGGAGG others(20): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0132a0001c0001t0001g0133 | 3 | 216 | 0.0139 | 27 | c.311 others(44): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100597809 | G | GAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0024 | 1 | 314 | 0.0032 | 27 | c.530 others(46): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 34/41 | chr6 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50086479 | T | TTGGTGGT others(20): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG03471.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028a0001c0003t0001g0061 | 3 | 324 | 0.0093 | 27 | c.*48 others(38): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 2869 | chr12 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00544.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 2 | 306 | 0.0065 | 27 | c.-10 others(44): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026a0001c0001t0002g0061a0001c0001t0002g0068others(14): Show | 18 | 306 | 0.0588 | 27 | c.-10 others(44): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASMTL_chrX_1398139_1457909 | 1402355 | G | GAATGCAG others(20): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01070.hp2 others(8): Show |
a0000 | a0000c0007a0000c0030a0000c0039others(1): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(1): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(8): Show | 11 | 185 | 0.0595 | 27 | c.*91 others(36): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 783 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1411624 | G | GCTGACAC others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(90): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0008a0001c0011others(29): Show | a0001c0001t0001a0001c0008t0001a0001c0011t0001others(30): Show | a0001c0001t0001g0076a0001c0008t0001g0045a0001c0011t0001g0014others(89): Show | 93 | 185 | 0.5027 | 27 | c.164 others(46): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1411625 | C | CTGACACT others(20): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0123 | 1 | 185 | 0.0054 | 27 | c.164 others(46): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1625547 | A | AGGAAGGG others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 223 | 0.0045 | 27 | c.374 others(44): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1625551 | A | AGGGAGGG others(20): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01978.hp1 HG02080.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0035a0001c0001t0001g0076others(8): Show | 11 | 223 | 0.0493 | 27 | c.374 others(44): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1647128 | T | TTTCTTTC others(20): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01993.hp2 HG04184.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0077a0001c0001t0001g0097a0001c0001t0002g0200others(5): Show | 8 | 223 | 0.0359 | 27 | c.*41 others(38): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4048 | chrX | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197145868 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0038 | 1 | 296 | 0.0034 | 27 | c.297 others(42): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1/27 | chr1 | TogoVar |