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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSK_chr5_95550101_95610102 | 95588975 | A | AAAC | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0016 a0001c0005t0002g0139 a0001c0005t0002g0140 |
5 | 334 | 0.0150 | 3 | c.871 others(20): Show |
ARSK | ENSG00000164291.17 | transcript | ENST00000380009.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARSL_chrX_2929521_2969341 | 2943793 | G | GAGA | intron_variant | MODIFIER | NA18522.hp1 NA18906.hp1 NA19043.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001a0002c0004t0002 | a0002c0002t0001g0130 a0002c0004t0001g0285 a0002c0004t0002g0032 |
3 | 326 | 0.0092 | 3 | c.992 others(18): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 7/10 | chrX | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2957003 | C | CTTG | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01884.hp1 others(11): Show |
a0002a0003a0004 | a0002c0002a0003c0005a0004c0006 | a0002c0002t0002a0003c0005t0002a0004c0006t0001others(1): Show | a0002c0002t0002g0047 a0003c0005t0002g0025 a0003c0005t0002g0026 others(10): Show |
14 | 326 | 0.0429 | 3 | c.185 others(20): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 3/10 | chrX | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2957220 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02486.hp1 others(5): Show |
a0002a0003a0004 | a0002c0002a0003c0005a0004c0006 | a0002c0002t0002a0003c0005t0002a0004c0006t0001others(1): Show | a0002c0002t0002g0047 a0003c0005t0002g0030 a0004c0006t0001g0243 others(4): Show |
8 | 297 | 0.0269 | 3 | c.185 others(20): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 3/10 | chrX | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2957708 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01891.hp1 others(8): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0002g0012 others(8): Show |
11 | 288 | 0.0382 | 3 | c.185 others(18): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 3/10 | chrX | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2960268 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01175.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0001c0014others(3): Show | a0001c0001t0001a0001c0009t0001a0001c0014t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0078 others(13): Show |
19 | 181 | 0.1050 | 3 | c.23+ others(16): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 2/10 | chrX | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3640355 | A | ATGG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(382): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0014a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(301): Show |
385 | 392 | 0.9821 | 3 | c.-48 others(14): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4772 | chr11 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3651449 | A | AAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(325): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0014a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(267): Show |
328 | 392 | 0.8367 | 3 | c.-53 others(20): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3661490 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0032 others(28): Show |
53 | 191 | 0.2775 | 3 | c.886 others(16): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663081 | C | CTCA | intron_variant | MODIFIER | HG00738.hp2 HG02074.hp1 HG02258.hp1 others(10): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0001a0005c0006t0001 | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0119 others(9): Show |
13 | 390 | 0.0333 | 3 | c.887 others(20): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663099 | C | CTCA | intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0014t0001g0121 |
3 | 392 | 0.0077 | 3 | c.887 others(18): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76076004 | G | GTTT | intron_variant | MODIFIER | HG01884.hp1 HG01978.hp2 HG02055.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0262 others(8): Show |
12 | 190 | 0.0632 | 3 | c.69+ others(14): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76079176 | T | TAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(38): Show |
59 | 135 | 0.4370 | 3 | c.70- others(18): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76108362 | T | TATC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(165): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(115): Show |
168 | 390 | 0.4308 | 3 | c.103 others(20): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76114071 | C | CAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp2 others(38): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 others(28): Show |
41 | 208 | 0.1971 | 3 | c.*15 others(14): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 1286 | chr4 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14822314 | A | AACG | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0009 | a0001c0001t0009g0159 a0002c0002t0009g0009 |
3 | 378 | 0.0079 | 3 | c.*70 others(14): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 3254 | chr12 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14822317 | G | GACA | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0001a0001c0001t0013a0003c0003t0003others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0042 a0001c0001t0013g0041 others(5): Show |
13 | 378 | 0.0344 | 3 | c.*70 others(14): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 3251 | chr12 | TogoVar | |||||||
ART5_chr11_3633512_3646992 | 3640355 | A | ATGG | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(442): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0024 others(100): Show |
445 | 452 | 0.9845 | 3 | c.71_ others(8): Show |
p.Pro others(14): Show |
ART5 | ENSG00000167311.14 | transcript | ENST00000397068.8 | protein_coding | 2/4 | 203/1232 | 73/876 | 25/291 | chr11 | TogoVar | |||
ARTN_chr1_43928801_43942240 | 43929303 | A | AATT | upstream_gene_variant | MODIFIER | HG02647.hp1 HG03516.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 3 | 392 | 0.0077 | 3 | c.-47 others(14): Show |
ARTN | ENSG00000117407.17 | transcript | ENST00000372359.10 | protein_coding | 4497 | chr1 | TogoVar | |||||||
ARTN_chr1_43928801_43942240 | 43929310 | A | ATTT | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG03130.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0005g0009 |
9 | 303 | 0.0297 | 3 | c.-47 others(14): Show |
ARTN | ENSG00000117407.17 | transcript | ENST00000372359.10 | protein_coding | 4490 | chr1 | TogoVar | |||||||
ARTN_chr1_43928801_43942240 | 43939320 | A | AAGG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(149): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 others(14): Show |
152 | 392 | 0.3878 | 3 | c.*25 others(14): Show |
ARTN | ENSG00000117407.17 | transcript | ENST00000372359.10 | protein_coding | 2081 | chr1 | TogoVar | |||||||
ARTN_chr1_43928801_43942240 | 43941409 | C | CAAA | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02572.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0003t0001g0005 |
12 | 123 | 0.0976 | 3 | c.*46 others(14): Show |
ARTN | ENSG00000117407.17 | transcript | ENST00000372359.10 | protein_coding | 4170 | chr1 | TogoVar | |||||||
ARV1_chr1_230974094_231005733 | 230983412 | C | CAAA | intron_variant | MODIFIER | HG00621.hp1 HG01168.hp2 HG02071.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0010 a0001c0001t0001g0042 a0001c0001t0001g0052 others(14): Show |
25 | 252 | 0.0992 | 3 | c.174 others(20): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230985921 | A | ATTT | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp2 HG01175.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0025 others(30): Show |
44 | 237 | 0.1857 | 3 | c.175 others(20): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 231001542 | C | CAAA | downstream_gene_variant | MODIFIER | HG02738.hp2 HG04184.hp1 NA18939.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0035 others(5): Show |
11 | 193 | 0.0570 | 3 | c.*14 others(14): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 810 | chr1 | TogoVar | |||||||
ARVCF_chr22_19964896_20021823 | 19985718 | C | CACA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(151): Show |
a0002a0004a0005others(12): Show | a0002c0002a0002c0032a0002c0040others(20): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0014others(27): Show | a0002c0002t0001g0001 a0002c0002t0001g0036 a0002c0002t0001g0122 others(99): Show |
154 | 372 | 0.4140 | 3 | c.211 others(20): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 3/19 | chr22 | TogoVar | |||||||
ARX_chrX_24998694_25020965 | 25001239 | T | TGGG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00558.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(18): Show |
36 | 129 | 0.2791 | 3 | c.*34 others(14): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2454 | chrX | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67545316 | T | TGCA | disruptive_inframe_insertion | MODERATE | HG00741.hp2 HG01169.hp1 HG01515.hp1 others(15): Show |
a0006 | a0006c0003a0006c0031 | a0006c0003t0001a0006c0003t0002a0006c0003t0004others(6): Show | a0006c0003t0001g0002 a0006c0003t0001g0033 a0006c0003t0001g0098 others(15): Show |
18 | 42 | 0.4286 | 3 | c.237 others(10): Show |
p.Gln others(5): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | T | TGGC | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00642.hp1 HG00738.hp1 others(29): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0009a0002c0005others(10): Show | a0001c0001t0050a0001c0009t0006a0001c0009t0008others(24): Show | a0001c0001t0050g0050 a0001c0009t0006g0168 a0001c0009t0008g0128 others(29): Show |
32 | 112 | 0.2857 | 3 | c.141 others(12): Show |
p.Gly others(6): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2547/10667 | 1421/2763 | 474/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AS3MT_chr10_102864470_102906899 | 102870036 | G | GCTC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(182): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0097 a0001c0001t0002g0002 a0001c0001t0002g0004 others(167): Show |
185 | 360 | 0.5139 | 3 | c.43- others(14): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102871546 | C | CAAA | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01169.hp2 others(17): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0191 a0001c0001t0001g0195 others(16): Show |
20 | 48 | 0.4167 | 3 | c.171 others(18): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102873275 | T | TTTA | intron_variant | MODIFIER | HG02486.hp1 HG03239.hp1 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 others(1): Show |
4 | 359 | 0.0111 | 3 | c.458 others(16): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102873296 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp1 others(105): Show |
a0001 | a0001c0001a0001c0008a0001c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(93): Show |
108 | 344 | 0.3140 | 3 | c.458 others(16): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102906246 | C | CAAA | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG01081.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0235 a0001c0001t0001g0275 a0001c0001t0001g0280 others(3): Show |
6 | 307 | 0.0195 | 3 | c.*55 others(14): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4348 | chr10 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18071253 | T | TATA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(174): Show |
a0001a0006 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(122): Show |
177 | 418 | 0.4234 | 3 | c.216 others(16): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18079468 | C | CATT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(159): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(19): Show | a0001c0001t0001g0101 a0001c0001t0001g0150 a0001c0001t0001g0223 others(105): Show |
162 | 418 | 0.3876 | 3 | c.79- others(18): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
ASAH2B_chr10_50734936_50764255 | 50739185 | T | TTGA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(141): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(17): Show | a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 others(51): Show |
144 | 412 | 0.3495 | 3 | c.-89 others(12): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 750 | chr10 | TogoVar | |||||||
ASAH2B_chr10_50734936_50764255 | 50748745 | T | TCTC | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG01981.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0011a0001c0001t0018a0001c0001t0028others(7): Show | a0001c0001t0011g0007 a0001c0001t0011g0034 a0001c0001t0018g0007 others(10): Show |
19 | 412 | 0.0461 | 3 | c.145 others(18): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187084 | C | CTCT | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 NA18950.hp1 NA19000.hp2 others(5): Show |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0008a0001c0002t0034a0003c0003t0028others(1): Show | a0001c0002t0008g0020 a0001c0002t0008g0082 a0001c0002t0008g0096 others(4): Show |
8 | 326 | 0.0245 | 3 | c.*23 others(12): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 230 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50242206 | G | GGTA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(146): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0007others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(41): Show | a0001c0002t0001g0091 a0001c0002t0002g0017 a0001c0002t0002g0092 others(122): Show |
149 | 406 | 0.3670 | 3 | c.510 others(18): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049113 | A | AGAG | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02559.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018 | a0001c0001t0008g0040 a0001c0001t0018g0290 a0001c0001t0018g0294 |
3 | 306 | 0.0098 | 3 | c.*56 others(14): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2990 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130060075 | C | CAAA | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG02055.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0035 a0001c0001t0001g0159 a0001c0001t0001g0172 others(5): Show |
8 | 93 | 0.0860 | 3 | c.319 others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 28/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130070973 | G | GAGA | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp1 HG01255.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0212 a0001c0001t0002g0057 a0001c0001t0002g0148 others(2): Show |
5 | 303 | 0.0165 | 3 | c.270 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130070998 | A | AGGG | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp2 HG02027.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0020 | a0001c0001t0001g0034 a0001c0001t0001g0091 a0001c0001t0001g0155 others(14): Show |
17 | 295 | 0.0576 | 3 | c.270 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130085735 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(80): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(10): Show | a0002c0002t0001g0018 a0002c0002t0001g0084 a0002c0002t0001g0085 others(80): Show |
83 | 201 | 0.4129 | 3 | c.257 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 25/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130093666 | C | CAAA | intron_variant | MODIFIER | HG01358.hp2 HG02280.hp1 HG02280.hp2 others(8): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0006a0002c0002t0010others(1): Show | a0002c0002t0001g0064 a0002c0002t0001g0093 a0002c0002t0001g0101 others(8): Show |
11 | 157 | 0.0701 | 3 | c.240 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130097126 | C | CAAA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01074.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0108 a0001c0001t0001g0158 a0001c0001t0001g0164 others(11): Show |
14 | 44 | 0.3182 | 3 | c.240 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130099012 | C | CTTT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00738.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0008a0001c0001t0018a0001c0001t0019others(5): Show | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(20): Show |
23 | 158 | 0.1456 | 3 | c.240 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130099700 | T | TTTG | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG01167.hp1 others(28): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0006others(3): Show | a0002c0002t0001g0018 a0002c0002t0001g0066 a0002c0002t0001g0070 others(28): Show |
31 | 273 | 0.1136 | 3 | c.240 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130107180 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(58): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0021a0001c0001t0028others(8): Show | a0001c0001t0011g0013 a0001c0001t0021g0263 a0001c0001t0028g0088 others(58): Show |
61 | 172 | 0.3547 | 3 | c.240 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar |