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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSG_chr17_68286495_68425814 | 68352127 | AGAGAGAG others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG02257.hp1 |
a0001a0002a0005 | a0001c0003a0002c0002a0005c0007 | a0001c0003t0001a0002c0002t0002a0005c0007t0001 | a0001c0003t0001g0204 a0002c0002t0002g0298 a0005c0007t0001g0250 |
3 | 302 | 0.0099 | -15 | c.566 others(30): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68372877 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0224 | 1 | 60 | 0.0167 | -15 | c.982 others(32): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68417733 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0013a0001c0028 | a0001c0013t0001a0001c0028t0001 | a0001c0013t0001g0035 a0001c0013t0001g0045 a0001c0013t0001g0046 others(1): Show |
4 | 42 | 0.0952 | -15 | c.130 others(34): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSI_chr5_150291343_150307905 | 150306790 | CAAAATGG others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 454 | 0.0022 | -15 | c.-44 others(26): Show |
ARSI | ENSG00000183876.9 | transcript | ENST00000328668.8 | protein_coding | 3886 | chr5 | TogoVar | |||||||
ARSK_chr5_95550101_95610102 | 95554710 | ACCTGAGG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01099.hp1 others(34): Show |
a0001a0004a0005 | a0001c0001a0001c0016a0004c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0019 others(27): Show |
37 | 334 | 0.1108 | -15 | c.-56 others(24): Show |
ARSK | ENSG00000164291.17 | transcript | ENST00000380009.9 | protein_coding | 390 | chr5 | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2946505 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 169 | 0.0059 | -15 | c.855 others(30): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 6/10 | chrX | TogoVar | |||||||
ARV1_chr1_230974094_231005733 | 230986668 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0033 a0001c0001t0001g0039 a0002c0002t0001g0004 |
5 | 149 | 0.0336 | -15 | c.175 others(32): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG02647.hp1 HG02896.hp1 HG02965.hp1 others(8): Show |
a0009a0017 | a0009c0012a0009c0015a0017c0024 | a0009c0012t0005a0009c0012t0024a0009c0012t0037others(6): Show | a0009c0012t0005g0144 a0009c0012t0005g0145 a0009c0012t0005g0147 others(8): Show |
11 | 35 | 0.3143 | -15 | c.225 others(22): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1351/10667 | 225/2763 | 75/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | TGGCGGCG others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG00280.hp1 NA19085.hp1 NA19088.hp1 others(1): Show |
a0002a0004a0005 | a0002c0005a0004c0004a0005c0006 | a0002c0005t0015a0002c0005t0044a0004c0004t0048others(1): Show | a0002c0005t0015g0088 a0002c0005t0044g0181 a0004c0004t0048g0087 others(1): Show |
4 | 84 | 0.0476 | -15 | c.140 others(24): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2532/10667 | 1406/2763 | 469/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0097 a0001c0001t0001g0262 others(1): Show |
4 | 193 | 0.0207 | -15 | c.886 others(32): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888867 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 360 | 0.0028 | -15 | c.886 others(32): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888869 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 307 | 0.0033 | -15 | c.886 others(32): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50747968 | TTTAAATA others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(133): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(46): Show |
136 | 412 | 0.3301 | -15 | c.145 others(32): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02723.hp1 HG03195.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0012a0004c0012t0027 | a0001c0001t0012g0295 a0001c0001t0012g0296 a0001c0001t0012g0298 others(1): Show |
4 | 34 | 0.1176 | -15 | c.240 others(34): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130151370 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(10): Show | a0001c0001t0001g0014 a0001c0001t0001g0158 a0001c0001t0001g0227 others(52): Show |
55 | 77 | 0.7143 | -15 | c.108 others(34): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 13/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130178281 | GAATACAG others(8): Show |
G | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 306 | 0.0033 | -15 | c.746 others(30): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 9/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130215975 | AAAAGGAA others(8): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001 | a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 others(2): Show |
5 | 98 | 0.0510 | -15 | c.260 others(32): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130262413 | AAAAAGAG others(8): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0146 | 1 | 304 | 0.0033 | -15 | c.187 others(34): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130394180 | TGAGCTGG others(8): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0242 | 1 | 306 | 0.0033 | -15 | c.59+ others(30): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9221264 | ATCTATCA others(8): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0129 | 1 | 210 | 0.0048 | -15 | c.126 others(34): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9229346 | CCACCTCT others(8): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0199 | 1 | 210 | 0.0048 | -15 | c.126 others(34): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9234256 | CAGCTTCC others(8): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0099 | 1 | 210 | 0.0048 | -15 | c.126 others(34): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15281108 | ATCGCTTG others(8): Show |
A | downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0049 | 1 | 304 | 0.0033 | -15 | c.*23 others(26): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 588 | chrX | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5648545 | CCCACTCA others(8): Show |
C | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 444 | 0.0023 | -15 | c.517 others(30): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5652022 | AAAACCAC others(8): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG01952.hp1 HG01978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0052 a0001c0001t0003g0132 a0001c0001t0003g0133 others(4): Show |
7 | 428 | 0.0164 | -15 | c.232 others(30): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5662565 | GGAGAAGA others(8): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG00733.hp1 others(18): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0275 others(15): Show |
21 | 134 | 0.1567 | -15 | c.43+ others(30): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
ASB15_chr7_123596821_123644481 | 123620540 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02071.hp2 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0173 | 1 | 374 | 0.0027 | -15 | c.451 others(32): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620542 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0184 | 1 | 369 | 0.0027 | -15 | c.451 others(32): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620544 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA18942.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0204 | 1 | 373 | 0.0027 | -15 | c.451 others(32): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176218307 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02572.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0241 |
3 | 408 | 0.0074 | -15 | c.671 others(32): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218332 | TTTGTATG others(8): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp1 HG01928.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0047 a0001c0002t0003g0050 a0001c0002t0003g0052 others(2): Show |
5 | 408 | 0.0123 | -15 | c.671 others(32): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218493 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp1 HG01928.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0140 a0001c0002t0003g0047 a0001c0002t0003g0050 others(3): Show |
6 | 408 | 0.0147 | -15 | c.671 others(32): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219556 | AATATGTA others(8): Show |
A | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 398 | 0.0025 | -15 | c.670 others(32): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219560 | TGTATATA others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG02074.hp2 HG02083.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0020 others(6): Show |
10 | 408 | 0.0245 | -15 | c.670 others(32): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB7_chr15_100597589_100656701 | 100603145 | GCCCCTTT others(8): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0016 a0001c0001t0004g0017 a0001c0001t0004g0035 |
5 | 366 | 0.0137 | -15 | c.-27 others(30): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ASB7_chr15_100597589_100656701 | 100633645 | AGAAGGAA others(8): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG02723.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0006 a0001c0001t0002g0201 a0001c0001t0006g0060 others(3): Show |
6 | 366 | 0.0164 | -15 | c.817 others(32): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ASB7_chr15_100597589_100656701 | 100643477 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18940.hp1 NA18965.hp2 NA19002.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0032 a0001c0001t0009g0089 a0001c0001t0009g0276 |
4 | 308 | 0.0130 | -15 | c.818 others(32): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72110923 | ATCAACTA others(8): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0001 | 1 | 214 | 0.0047 | -15 | c.958 others(34): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218166 | ATATATAT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 183 | 0.0055 | -15 | c.-20 others(26): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1891 | chr10 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608475 | TACTTTAT others(8): Show |
T | intron_variant | MODIFIER | HG06807.hp2 NA18946.hp1 NA19004.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0087 a0001c0002t0003g0101 a0001c0002t0003g0129 |
3 | 302 | 0.0099 | -15 | c.478 others(34): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608531 | TACTTTAT others(8): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01123.hp1 HG01168.hp1 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0002 | a0003c0005t0001g0285 a0003c0005t0002g0131 a0003c0005t0002g0150 others(2): Show |
5 | 308 | 0.0162 | -15 | c.478 others(34): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCL5_chr1_201108943_201132184 | 201130685 | GACCCTGT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 416 | 0.0024 | -15 | c.-41 others(26): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 3502 | chr1 | TogoVar | |||||||
ASDURF_chr2_189656459_189671401 | 189665610 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 333 | 0.0030 | -15 | c.220 others(30): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
ASDURF_chr2_189656459_189671401 | 189665637 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 337 | 0.0030 | -15 | c.220 others(30): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7118489 | AAGGAAGG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0202 | 1 | 232 | 0.0043 | -15 | c.-39 others(26): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3668 | chr17 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155490968 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01099.hp1 HG01192.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 others(13): Show |
16 | 69 | 0.2319 | -15 | c.421 others(32): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33008767 | CAGGGTTG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01433.hp1 HG01515.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0006a0001c0001t0009a0001c0002t0005others(5): Show | a0001c0001t0006g0027 a0001c0001t0006g0029 a0001c0001t0006g0050 others(8): Show |
11 | 238 | 0.0462 | -15 | c.*51 others(26): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 4319 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33018284 | ACCCCTGC others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00741.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(15): Show | a0001c0001t0003g0022 a0001c0001t0003g0032 a0001c0001t0003g0035 others(40): Show |
43 | 238 | 0.1807 | -15 | c.144 others(32): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33068528 | TCAAAACA others(8): Show |
T | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0127 | 1 | 52 | 0.0192 | -15 | c.987 others(34): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33192384 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG01069.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(23): Show | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(43): Show |
46 | 70 | 0.6571 | -15 | c.709 others(34): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar |