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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF10_chr8_1818926_1963641 | 1841910 | GGGAACTG others(29): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 HG01175.hp2 others(23): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(22): Show | a0001c0001t0002g0069 a0001c0001t0003g0109 a0001c0002t0001g0068 others(23): Show |
26 | 322 | 0.0807 | -36 | c.-47 others(53): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1841928 | GGGAACTG others(29): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01515.hp1 HG01517.hp2 others(9): Show |
a0001a0003a0008others(2): Show | a0001c0002a0001c0004a0001c0007others(7): Show | a0001c0002t0008a0001c0004t0015a0001c0007t0001others(7): Show | a0001c0002t0008g0357 a0001c0004t0015g0025 a0001c0007t0001g0196 others(9): Show |
12 | 291 | 0.0412 | -36 | c.-47 others(53): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1841946 | CGGAACTG others(29): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0015 | a0001c0015t0024 | a0001c0015t0024g0152 | 1 | 262 | 0.0038 | -36 | c.-47 others(53): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1841964 | CGGAACTG others(29): Show |
C | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 NA18747.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0003a0001c0014t0002 | a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0014t0002g0218 |
3 | 258 | 0.0116 | -36 | c.-47 others(53): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF12_chr11_120331413_120494937 | 120351423 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG03579.hp2 NA18947.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0006g0110 |
3 | 229 | 0.0131 | -36 | c.32+ others(53): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF12_chr11_120331413_120494937 | 120351425 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 282 | 0.0035 | -36 | c.32+ others(53): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF12_chr11_120331413_120494937 | 120351427 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0091 | 1 | 256 | 0.0039 | -36 | c.32+ others(53): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF12_chr11_120331413_120494937 | 120351429 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0007 | a0007c0016 | a0007c0016t0033 | a0007c0016t0033g0113 | 1 | 299 | 0.0033 | -36 | c.32+ others(53): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF15_chr17_8305241_8327511 | 8326020 | CTATAGGG others(29): Show |
C | downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 425 | 0.0024 | -36 | c.*50 others(47): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 3510 | chr17 | TogoVar | |||||||
ARHGEF18_chr19_7343937_7477478 | 7362011 | AAGAAGGA others(29): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG04184.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0143 a0001c0002t0003g0233 |
2 | 247 | 0.0081 | -36 | c.-11 others(53): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7362137 | GAGAAGGA others(29): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG01258.hp2 others(4): Show |
a0001a0004a0029 | a0001c0002a0004c0015a0029c0050 | a0001c0002t0002a0001c0002t0003a0004c0015t0003others(1): Show | a0001c0002t0002g0038 a0001c0002t0003g0041 a0001c0002t0003g0160 others(4): Show |
7 | 296 | 0.0236 | -36 | c.-11 others(53): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF1_chr19_41878184_41912452 | 41894732 | GTCTGAGG others(29): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(74): Show |
a0001a0002 | a0001c0002a0001c0012a0002c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0011 others(59): Show |
77 | 232 | 0.3319 | -36 | c.877 others(50): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73671712 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG03209.hp2 HG03486.hp1 |
a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0146 a0001c0028t0001g0181 |
2 | 175 | 0.0114 | -36 | c.-11 others(55): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73671718 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG02451.hp1 NA20300.hp2 |
a0002a0004 | a0002c0003a0004c0004 | a0002c0003t0001a0004c0004t0001 | a0002c0003t0001g0166 a0004c0004t0001g0167 |
2 | 186 | 0.0108 | -36 | c.-11 others(55): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF37_chr5_149576498_149639968 | 149598303 | TCTTCTTC others(29): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0008 | a0008c0009 | a0008c0009t0025 | a0008c0009t0025g0318 | 1 | 392 | 0.0026 | -36 | c.186 others(51): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
ARHGEF7_chr13_111110310_111310732 | 111221237 | ATATATGT others(29): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0220 | 1 | 268 | 0.0037 | -36 | c.670 others(53): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157039616 | ACCTTCCT others(29): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp1 HG03041.hp2 others(2): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0003a0010c0032others(1): Show | a0001c0001t0001a0002c0003t0018a0010c0032t0015others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0063 a0002c0003t0018g0023 others(2): Show |
5 | 141 | 0.0355 | -36 | c.224 others(57): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235173757 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 257 | 0.0039 | -36 | c.366 others(54): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 22/23 | chr1 | TogoVar | |||||||
ARK2C_chr18_46329018_46468140 | 46397539 | GGGTCATG others(29): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01346.hp1 HG02015.hp1 others(37): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0025 others(37): Show |
40 | 252 | 0.1587 | -36 | c.62- others(53): Show |
ARK2C | ENSG00000141622.14 | transcript | ENST00000269439.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ARL8B_chr3_5117292_5185911 | 5174682 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | NA19056.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 a0001c0001t0002g0062 |
2 | 302 | 0.0066 | -36 | c.511 others(51): Show |
ARL8B | ENSG00000134108.14 | transcript | ENST00000256496.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601227 | ATATATAT others(29): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0024 | 1 | 333 | 0.0030 | -36 | c.-44 others(47): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4458 | chr9 | TogoVar | |||||||
ARRDC1_chr9_137600686_137620360 | 137601237 | ATATATAT others(29): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 326 | 0.0031 | -36 | c.-44 others(47): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4448 | chr9 | TogoVar | |||||||
ARSG_chr17_68286495_68425814 | 68331197 | CTTTCTTT others(29): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp2 HG01070.hp2 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0159 a0001c0001t0002g0072 others(16): Show |
19 | 302 | 0.0629 | -36 | c.219 others(55): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113924056 | AATATATA others(29): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02970.hp1 HG03516.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0037a0002c0002t0002others(3): Show | a0001c0001t0002g0119 a0001c0001t0037g0188 a0002c0002t0002g0138 others(3): Show |
6 | 333 | 0.0180 | -36 | c.399 others(55): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102869497 | TCCTGAGT others(29): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(158): Show |
173 | 352 | 0.4915 | -36 | c.-19 others(44): Show |
p.Met others(3): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 1/11 | 105/2450 | 1/1128 | 1/375 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
AS3MT_chr10_102864470_102906899 | 102901017 | GTAGAGGC others(29): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0067 | 1 | 360 | 0.0028 | -36 | c.*31 others(45): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 11/11 | 319 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAP1_chr8_130047104_130448674 | 130070814 | GGAGAGAG others(29): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0116 | 1 | 278 | 0.0036 | -36 | c.270 others(55): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130070878 | AGAGAGGG others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01891.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0002g0027 a0001c0001t0002g0169 a0001c0001t0008g0021 others(8): Show |
11 | 306 | 0.0359 | -36 | c.270 others(55): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASB15_chr7_123596821_123644481 | 123620522 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0206 | 1 | 375 | 0.0027 | -36 | c.451 others(53): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236237362 | GGGGGCCG others(29): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp2 HG02145.hp2 others(14): Show |
a0001a0002a0010 | a0001c0003a0002c0002a0002c0005others(3): Show | a0001c0003t0006a0002c0002t0006a0002c0005t0001others(6): Show | a0001c0003t0006g0075 a0002c0002t0006g0020 a0002c0002t0006g0021 others(14): Show |
17 | 248 | 0.0685 | -36 | c.596 others(51): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASB4_chr7_95480943_95545233 | 95515163 | CTTTCTCT others(29): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0304 a0001c0001t0010g0029 |
2 | 362 | 0.0055 | -36 | c.488 others(55): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219539 | TATATGTA others(29): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0190 |
2 | 408 | 0.0049 | -36 | c.670 others(53): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASDURF_chr2_189656459_189671401 | 189665596 | GTGTATAT others(29): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG02055.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 6 | 89 | 0.0674 | -36 | c.220 others(51): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1450519 | ATCACACT others(29): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03486.hp2 NA21309.hp1 |
a0002a0003 | a0002c0005a0003c0002a0003c0026 | a0002c0005t0001a0003c0002t0001a0003c0026t0001 | a0002c0005t0001g0156 a0003c0002t0001g0154 a0003c0026t0001g0155 |
3 | 183 | 0.0164 | -36 | c.93+ others(51): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1451171 | TCCCTAGG others(29): Show |
T | intron_variant | MODIFIER | NA18993.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0014 | 1 | 183 | 0.0055 | -36 | c.93+ others(51): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1451175 | TAGGGGGT others(29): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(140): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0001c0012others(23): Show | a0001c0001t0001a0001c0008t0001a0001c0012t0001others(25): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(139): Show |
143 | 183 | 0.7814 | -36 | c.93+ others(51): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ASNSD1_chr2_189656459_189675831 | 189665596 | GTGTATAT others(29): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG02055.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 6 | 87 | 0.0690 | -36 | c.-93 others(51): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61561075 | AGAGGGAG others(29): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG03688.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0017a0001c0012t0017 | a0001c0001t0017g0032 a0001c0012t0017g0044 |
2 | 244 | 0.0082 | -36 | c.143 others(55): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197148413 | GCCTCACA others(29): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 294 | 0.0034 | -36 | c.-20 others(47): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1745 | chr1 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62375428 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG02622.hp1 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0021a0001c0001t0038a0001c0005t0040others(3): Show | a0001c0001t0021g0330 a0001c0001t0021g0332 a0001c0001t0038g0333 others(4): Show |
7 | 83 | 0.0843 | -36 | c.492 others(55): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176942818 | GTGTATAT others(29): Show |
G | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0053 | 1 | 90 | 0.0111 | -36 | c.237 others(55): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116530094 | GATATATA others(29): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0077 | 1 | 70 | 0.0143 | -36 | c.335 others(57): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116530116 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01169.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0100 others(11): Show |
14 | 100 | 0.1400 | -36 | c.335 others(57): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32397214 | TTTTTTTT others(29): Show |
T | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0257 | 1 | 280 | 0.0036 | -36 | c.252 others(55): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850851 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG02129.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0044 a0002c0002t0002g0049 |
2 | 276 | 0.0072 | -36 | c.245 others(55): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATF7IP2_chr16_10381061_10488638 | 10481351 | CTCCCGAG others(29): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(153): Show |
a0001a0002a0008 | a0001c0003a0001c0007a0001c0016others(6): Show | a0001c0003t0020a0001c0007t0011a0001c0016t0015others(11): Show | a0001c0003t0020g0214 a0001c0007t0011g0352 a0001c0007t0011g0353 others(151): Show |
156 | 366 | 0.4262 | -36 | c.163 others(53): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308248 | ATATACAC others(29): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0254 | 1 | 354 | 0.0028 | -36 | c.430 others(55): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG4A_chrX_108086778_108159671 | 108148020 | AATATATA others(29): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | 7 | 0.4286 | -36 | c.815 others(53): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325663 | CACACACA others(29): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01975.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 others(8): Show |
11 | 233 | 0.0472 | -36 | c.364 others(53): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6936728 | ACAGCAGC others(29): Show |
A | disruptive_inframe_deletion | MODERATE | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0005 | 1 | 122 | 0.0082 | -36 | c.147 others(45): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2061/4702 | 1473/3573 | 491/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |