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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARMC9_chr2_231193631_231381848 | 231328814 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01168.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0058a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0058g0199a0001c0002t0002g0044a0001c0002t0002g0058others(8): Show | 11 | 200 | 0.0550 | 23 | c.177 others(42): Show |
ARMC9 | ENSG00000135931.19 | transcript | ENST00000611582.5 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARNT2_chr15_80399382_80602933 | 80516828 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02970.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0009 | a0001c0001t0005g0117a0002c0003t0009g0119 | 2 | 268 | 0.0075 | 23 | c.877 others(40): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 8/18 | chr15 | TogoVar | ||||||
ARPC2_chr2_218212189_218259348 | 218215618 | T | TAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00735.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(25): Show | 33 | 332 | 0.0994 | 23 | c.-16 others(34): Show |
ARPC2 | ENSG00000163466.16 | transcript | ENST00000315717.10 | protein_coding | 1570 | chr2 | TogoVar | ||||||
ARPC3_chr12_110429823_110455337 | 110450831 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 NA18943.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0131a0001c0001t0001g0162 | 3 | 334 | 0.0090 | 23 | c.-57 others(32): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 495 | chr12 | TogoVar | ||||||
ARRB1_chr11_75255122_75356661 | 75275154 | T | TTTATTTT others(16): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0204 | 1 | 320 | 0.0031 | 23 | c.777 others(38): Show |
ARRB1 | ENSG00000137486.17 | transcript | ENST00000420843.7 | protein_coding | 10/15 | chr11 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4709637 | T | TCAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 2 | 432 | 0.0046 | 23 | c.-10 others(34): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 994 | chr17 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4709640 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009a0001c0002t0001g0021a0001c0002t0001g0063others(3): Show | 15 | 432 | 0.0347 | 23 | c.-10 others(34): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 991 | chr17 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4724411 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 NA19054.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005a0001c0002t0001g0080 | 2 | 432 | 0.0046 | 23 | c.*33 others(34): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 2915 | chr17 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4886710 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG04115.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0264a0001c0002t0001g0393 | 2 | 412 | 0.0049 | 23 | c.*43 others(34): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3726 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4886710 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 412 | 0.0024 | 23 | c.*43 others(34): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3726 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4894510 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0001t0001g0098 | 3 | 412 | 0.0073 | 23 | c.459 others(40): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
ARSA_chr22_50617754_50633152 | 50621077 | A | ACTCACAT others(16): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 460 | 0.0022 | 23 | c.*40 others(34): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 1676 | chr22 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3036826 | A | AATATTAT others(16): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0014 | 1 | 193 | 0.0052 | 23 | c.-48 others(34): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4644 | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3037230 | T | TTATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0181a0002c0004t0001g0182 | 2 | 193 | 0.0104 | 23 | c.-44 others(34): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4240 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036826 | A | AATATTAT others(16): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0013 | 2 | 248 | 0.0081 | 23 | c.*34 others(34): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2716 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3037230 | T | TTATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197a0001c0001t0001g0198 | 2 | 248 | 0.0081 | 23 | c.*38 others(34): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 3120 | chrX | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663089 | A | ATCATCTC others(16): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0073 | 1 | 394 | 0.0025 | 23 | c.887 others(38): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102906276 | A | AAAAATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 NA18960.hp1 NA19078.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0004a0001c0003t0004 | a0001c0001t0003g0066a0001c0002t0004g0023a0001c0002t0004g0054others(1): Show | 4 | 362 | 0.0111 | 23 | c.*55 others(34): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049350 | T | TGGGGGGC others(16): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0267 | 1 | 308 | 0.0033 | 23 | c.*53 others(34): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2753 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130072825 | G | GTGCGTGT others(16): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0246 | 1 | 308 | 0.0033 | 23 | c.270 others(42): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130101732 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 308 | 0.0033 | 23 | c.240 others(42): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130366886 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0033 | 1 | 308 | 0.0033 | 23 | c.60- others(38): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9254236 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0205 | 1 | 210 | 0.0048 | 23 | c.127 others(42): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9254236 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0164 | 1 | 210 | 0.0048 | 23 | c.127 others(42): 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(16): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 306 | 0.0033 | 23 | c.181 others(40): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5662636 | G | GAGAAGAG others(16): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0097 | 1 | 446 | 0.0022 | 23 | c.43+ others(38): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123637878 | T | TAAAAAAA others(16): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01070.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0005a0003c0006t0005 | a0001c0001t0005g0001a0001c0001t0005g0026a0001c0001t0005g0033others(12): Show | 15 | 380 | 0.0395 | 23 | c.*91 others(32): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 12/12 | 920 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
ASB18_chr2_236188459_236269406 | 236202794 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0012 | a0012c0020 | a0012c0020t0009 | a0012c0020t0009g0015 | 1 | 250 | 0.0040 | 23 | c.110 others(42): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236202794 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03225.hp1 HG03453.hp2 |
a0007 | a0007c0013 | a0007c0013t0011 | a0007c0013t0011g0007a0007c0013t0011g0217 | 3 | 250 | 0.0120 | 23 | c.110 others(42): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
ASB1_chr2_238421927_238457250 | 238454908 | G | GTGCACCG others(16): Show |
downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0121 | 1 | 416 | 0.0024 | 23 | c.*83 others(34): Show |
ASB1 | ENSG00000065802.12 | transcript | ENST00000264607.9 | protein_coding | 2659 | chr2 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176218671 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp2 others(60): Show |
a0001a0003a0005 | a0001c0002a0003c0007a0005c0012 | a0001c0002t0001a0001c0002t0017a0003c0007t0001others(1): Show | a0001c0002t0001g0019a0001c0002t0001g0022a0001c0002t0001g0025others(57): Show | 63 | 410 | 0.1537 | 23 | c.671 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219103 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01169.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256a0001c0002t0001g0272a0001c0002t0001g0273 | 3 | 410 | 0.0073 | 23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219371 | T | TTGTATGA others(16): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0368 | 1 | 410 | 0.0024 | 23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219410 | A | AATATATA others(16): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0091 | 2 | 410 | 0.0049 | 23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219444 | T | TTGTATGA others(16): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0305 | 1 | 410 | 0.0024 | 23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219519 | T | TTGTATGA others(16): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 410 | 0.0024 | 23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB7_chr15_100597589_100656701 | 100611484 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0100 | 2 | 368 | 0.0054 | 23 | c.-51 others(38): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ASCC1_chr10_72091032_72221276 | 72198403 | G | GAAGGGAA others(16): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 216 | 0.0046 | 23 | c.311 others(40): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100597809 | G | GAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03579.hp1 NA18946.hp2 others(7): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0002a0003c0004t0001 | a0002c0003t0002g0011a0002c0003t0002g0014a0002c0003t0002g0015others(7): Show | 10 | 314 | 0.0319 | 23 | c.530 others(42): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 34/41 | chr6 | TogoVar | ||||||
ASCL1_chr12_102952674_102965513 | 102962441 | T | TTTCATTC others(16): Show |
downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 354 | 0.0028 | 23 | c.*31 others(34): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1929 | chr12 | TogoVar | ||||||
ASCL1_chr12_102952674_102965513 | 102962477 | C | CTTTCTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 354 | 0.0028 | 23 | c.*31 others(34): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1965 | chr12 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155510321 | A | AGACAAAA others(16): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 182 | 0.0055 | 23 | c.420 others(42): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | ||||||
ASIC4_chr2_219509482_219543772 | 219523982 | C | CCTGGCTA others(16): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0095 | 1 | 372 | 0.0027 | 23 | c.583 others(40): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 306 | 0.0033 | 23 | c.-10 others(40): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34269946 | T | TAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 306 | 0.0033 | 23 | c.*77 others(32): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 603 | chr20 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1428667 | A | AAATAAAT others(16): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0030 | 1 | 185 | 0.0054 | 23 | c.510 others(38): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1647128 | T | TTTCTTTC others(16): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0139 | 1 | 223 | 0.0045 | 23 | c.*41 others(34): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4048 | chrX | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50511950 | G | GCACAGAG others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(247): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(16): Show | 250 | 372 | 0.6720 | 23 | c.809 others(38): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61539699 | G | GTGTGTGT others(16): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0114 | 2 | 258 | 0.0078 | 23 | c.176 others(42): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197148333 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG03017.hp2 others(16): Show |
a0001a0009a0017others(2): Show | a0001c0001a0001c0003a0009c0015others(3): Show | a0001c0001t0001a0001c0003t0001a0009c0015t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0023others(13): Show | 19 | 296 | 0.0642 | 23 | c.-18 others(34): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1665 | chr1 | TogoVar |