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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSB_chr5_78772209_78990310 | 78834607 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0012a0001c0003t0018a0001c0003t0048others(3): Show | a0001c0003t0012g0112 a0001c0003t0018g0260 a0001c0003t0048g0262 others(4): Show |
7 | 88 | 0.0795 | 8 | c.121 others(27): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78834607 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0002c0002t0001others(4): Show | a0001c0001t0002g0038 a0001c0001t0005g0037 a0002c0002t0001g0287 others(4): Show |
7 | 88 | 0.0795 | 8 | c.121 others(27): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78873498 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(92): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0026 a0001c0001t0001g0086 a0001c0001t0001g0189 others(92): Show |
95 | 112 | 0.8482 | 8 | c.114 others(29): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78905344 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(128): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0034 a0001c0001t0001g0110 a0001c0001t0001g0226 others(128): Show |
131 | 190 | 0.6895 | 8 | c.899 others(27): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78962524 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02056.hp2 HG02155.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0189 a0001c0001t0001g0276 a0001c0001t0002g0147 others(14): Show |
17 | 110 | 0.1545 | 8 | c.690 others(25): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 3/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78972516 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(65): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0189 a0001c0001t0001g0276 a0001c0001t0001g0277 others(64): Show |
68 | 165 | 0.4121 | 8 | c.313 others(25): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78980734 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01069.hp1 HG01167.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0334 a0001c0001t0003g0326 a0001c0001t0003g0340 others(17): Show |
20 | 222 | 0.0901 | 8 | c.312 others(25): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSD_chrX_2898972_2934339 | 2909080 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02056.hp1 HG03130.hp1 others(1): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0005t0021 | a0002c0002t0001g0116 a0002c0002t0002g0305 a0002c0005t0021g0077 others(1): Show |
4 | 251 | 0.0159 | 8 | c.129 others(25): Show |
ARSD | ENSG00000006756.16 | transcript | ENST00000381154.6 | protein_coding | 8/9 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036727 | A | ATATTATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0179 a0002c0004t0001g0180 |
2 | 188 | 0.0106 | 8 | c.-49 others(19): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4743 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036730 | T | TTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0168 a0001c0002t0001g0181 a0001c0002t0001g0183 others(2): Show |
5 | 188 | 0.0266 | 8 | c.-49 others(19): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4740 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036917 | T | TATATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01167.hp1 HG01168.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0019 a0001c0002t0001g0015 a0001c0002t0001g0026 others(4): Show |
7 | 191 | 0.0366 | 8 | c.-47 others(19): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4553 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3098047 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01167.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0101 a0001c0001t0001g0138 others(17): Show |
20 | 32 | 0.6250 | 8 | c.968 others(25): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3100587 | G | GTTTTTTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01070.hp1 others(14): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(5): Show | a0001c0001t0001g0035 a0001c0002t0001g0022 a0001c0002t0001g0067 others(14): Show |
17 | 191 | 0.0890 | 8 | c.968 others(23): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68331237 | C | CTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(29): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(13): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0037 others(29): Show |
32 | 202 | 0.1584 | 8 | c.219 others(27): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68393867 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG02027.hp2 others(9): Show |
a0001a0003a0006 | a0001c0005a0003c0004a0006c0008 | a0001c0005t0001a0003c0004t0001a0003c0004t0002others(1): Show | a0001c0005t0001g0012 a0001c0005t0001g0077 a0001c0005t0001g0278 others(9): Show |
12 | 223 | 0.0538 | 8 | c.109 others(27): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3008449 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG01496.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0003 | a0001c0001t0001a0001c0002t0002a0004c0003t0001 | a0001c0001t0001g0017 a0001c0001t0001g0059 a0001c0001t0001g0100 others(3): Show |
6 | 64 | 0.0938 | 8 | c.93- others(23): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3021881 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG02897.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0005 | a0001c0001t0001g0174 a0001c0001t0001g0199 a0003c0005t0005g0021 others(1): Show |
5 | 19 | 0.2632 | 8 | c.902 others(25): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036730 | T | TTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG02897.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0005 | a0001c0001t0001g0095 a0003c0005t0005g0021 a0003c0005t0005g0191 |
4 | 239 | 0.0167 | 8 | c.*33 others(19): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2620 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036917 | T | TATATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01168.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0006 | a0001c0001t0002a0002c0004t0002a0002c0006t0002 | a0001c0001t0002g0089 a0002c0004t0002g0022 a0002c0004t0002g0192 others(3): Show |
7 | 246 | 0.0285 | 8 | c.*35 others(19): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2807 | chrX | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113921117 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG03041.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0249 a0001c0001t0005g0116 a0001c0001t0006g0027 others(7): Show |
11 | 129 | 0.0853 | 8 | c.399 others(27): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2960320 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02809.hp2 others(2): Show |
a0002a0007 | a0002c0003a0007c0021 | a0002c0003t0001a0002c0003t0002a0007c0021t0001 | a0002c0003t0001g0208 a0002c0003t0001g0213 a0002c0003t0001g0240 others(2): Show |
5 | 315 | 0.0159 | 8 | c.23+ others(19): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 2/10 | chrX | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3656355 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01243.hp1 HG01346.hp2 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0003others(1): Show | a0001c0001t0001a0002c0004t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(24): Show |
38 | 312 | 0.1218 | 8 | c.-52 others(25): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663063 | C | CTCATCTC others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 HG02818.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0023 a0001c0001t0001g0073 a0001c0001t0001g0123 others(3): Show |
7 | 387 | 0.0181 | 8 | c.887 others(25): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663094 | C | CTCATCTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01361.hp1 others(27): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0071 others(19): Show |
30 | 373 | 0.0804 | 8 | c.887 others(23): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14830119 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01168.hp1 HG02165.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0002g0016 a0001c0001t0002g0128 a0001c0001t0002g0129 others(13): Show |
17 | 177 | 0.0960 | 8 | c.854 others(23): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14830645 | G | GTATGTGT others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0009 | a0001c0001t0009g0171 a0002c0002t0009g0009 |
3 | 378 | 0.0079 | 8 | c.854 others(25): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14830649 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01074.hp2 HG01081.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0211 a0001c0001t0002g0300 a0002c0002t0002g0060 others(3): Show |
6 | 84 | 0.0714 | 8 | c.854 others(25): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ARV1_chr1_230974094_231005733 | 230984343 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01257.hp2 HG01258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0070 a0001c0001t0001g0071 others(7): Show |
15 | 390 | 0.0385 | 8 | c.175 others(25): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230984359 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02615.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0040 a0001c0001t0001g0112 |
4 | 312 | 0.0128 | 8 | c.175 others(25): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230984361 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0163 a0001c0001t0001g0164 |
3 | 392 | 0.0077 | 8 | c.175 others(25): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARX_chrX_24998694_25020965 | 25018639 | T | TTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01496.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(5): Show |
22 | 131 | 0.1679 | 8 | c.-29 others(19): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2675 | chrX | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67604198 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 |
a0001a0009 | a0001c0001a0009c0015 | a0001c0001t0004a0009c0015t0005 | a0001c0001t0004g0186 a0009c0015t0005g0007 |
2 | 22 | 0.0909 | 8 | c.161 others(29): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67723312 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02109.hp2 HG02723.hp1 others(3): Show |
a0001a0002a0013others(1): Show | a0001c0001a0002c0005a0002c0010others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0005t0056others(3): Show | a0001c0001t0001g0092 a0001c0001t0004g0186 a0002c0005t0056g0172 others(3): Show |
6 | 99 | 0.0606 | 8 | c.260 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67723353 | T | TGTGTGTC others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18906.hp2 |
a0004a0005 | a0004c0032a0005c0006 | a0004c0032t0058a0005c0006t0011 | a0004c0032t0058g0169 a0005c0006t0011g0004 |
2 | 186 | 0.0108 | 8 | c.260 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | chrX | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67723520 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0009a0001c0026others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(83): Show | a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0085 others(126): Show |
130 | 160 | 0.8125 | 8 | c.260 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67728574 | A | AATATATA others(1): Show |
3_prime_UTR_variant | MODIFIER | NA18995.hp1 NA19072.hp1 |
a0004a0018 | a0004c0004a0018c0036 | a0004c0004t0021a0018c0036t0021 | a0004c0004t0021g0021 a0018c0036t0021g0063 |
2 | 27 | 0.0741 | 8 | c.*47 others(19): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4775 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102871546 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01070.hp2 HG02040.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0002t0004 | a0001c0001t0004g0040 a0001c0001t0005g0012 a0001c0001t0005g0104 others(5): Show |
9 | 37 | 0.2432 | 8 | c.171 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102889599 | C | CTTGCCTG others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0008a0001c0001t0015a0001c0001t0021others(8): Show | a0001c0001t0008g0009 a0001c0001t0008g0047 a0001c0001t0008g0048 others(38): Show |
41 | 360 | 0.1139 | 8 | c.886 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102889614 | G | GCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0024 others(21): Show |
29 | 138 | 0.2101 | 8 | c.886 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102892985 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01952.hp2 HG01981.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0188 others(5): Show |
10 | 200 | 0.0500 | 8 | c.102 others(27): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH1_chr8_18050992_18089107 | 18065882 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01257.hp1 HG01258.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0197 a0002c0002t0001g0032 a0002c0002t0001g0133 others(4): Show |
11 | 175 | 0.0629 | 8 | c.382 others(25): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | |||||||
ASAH2B_chr10_50734936_50764255 | 50739175 | C | CATTGATT others(1): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01243.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030a0001c0001t0038others(1): Show | a0001c0001t0001g0001 a0001c0001t0030g0077 a0001c0001t0030g0079 others(2): Show |
6 | 270 | 0.0222 | 8 | c.-90 others(17): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 760 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50187084 | C | CCTCTCTC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG01256.hp1 HG02698.hp2 others(2): Show |
a0002 | a0002c0001a0002c0022 | a0002c0001t0003a0002c0001t0017a0002c0001t0022others(1): Show | a0002c0001t0003g0298 a0002c0001t0017g0317 a0002c0001t0017g0318 others(2): Show |
5 | 323 | 0.0155 | 8 | c.*22 others(17): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 230 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187116 | T | TCACATAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG02258.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0004a0001c0007a0001c0011 | a0001c0004t0014a0001c0007t0014a0001c0011t0014others(1): Show | a0001c0004t0014g0278 a0001c0004t0014g0279 a0001c0007t0014g0338 others(4): Show |
7 | 375 | 0.0187 | 8 | c.*19 others(17): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 198 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50206537 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0001c0011others(4): Show | a0001c0002t0018a0001c0002t0027a0001c0007t0014others(14): Show | a0001c0002t0018g0010 a0001c0002t0018g0291 a0001c0002t0027g0041 others(45): Show |
58 | 106 | 0.5472 | 8 | c.141 others(25): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 12/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50212182 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01069.hp1 others(16): Show |
a0001 | a0001c0002a0001c0005a0001c0009 | a0001c0002t0004a0001c0002t0007a0001c0002t0008others(4): Show | a0001c0002t0004g0095 a0001c0002t0007g0021 a0001c0002t0007g0102 others(12): Show |
19 | 212 | 0.0896 | 8 | c.122 others(25): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 10/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50221698 | G | GGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00741.hp2 others(12): Show |
a0002 | a0002c0001a0002c0022 | a0002c0001t0003a0002c0001t0010a0002c0001t0017others(2): Show | a0002c0001t0003g0031 a0002c0001t0003g0184 a0002c0001t0003g0197 others(10): Show |
15 | 82 | 0.1829 | 8 | c.894 others(25): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130064893 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01169.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(1): Show | a0001c0001t0001g0171 a0002c0002t0001g0085 a0002c0002t0001g0086 others(9): Show |
12 | 117 | 0.1026 | 8 | c.270 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130070139 | C | CCTCAGCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01891.hp2 HG02698.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0018a0001c0001t0019a0003c0010t0019 | a0001c0001t0018g0290 a0001c0001t0018g0294 a0001c0001t0019g0286 others(1): Show |
4 | 306 | 0.0131 | 8 | c.270 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130071009 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02293.hp1 HG02293.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(4): Show |
7 | 222 | 0.0315 | 8 | c.270 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar |