Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02257.hp2 HG02451.hp1 others(1): Show HG01099.hp1 HG02257.hp2 HG02451.hp1 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0002c0002t0006g0020	4	250	0.0160	26	c.110 others(45): Show c.1102-6410_1102-6409insATATATATATATTTTTTTTTTTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0067 a0002c0002t0006g0067	1	250	0.0040	26	c.110 others(45): Show c.1102-6410_1102-6409insATATATATATATATTTTTTTTTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB7_chr15_100597589_100656701	100611484	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	368	0.0027	26	c.-51 others(41): Show c.-51-669_-51-668insTTTTTTTTTTTTTTTTTTTTTTTTTT	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASCC1_chr10_72091032_72221276	72218165	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	216	0.0046	26	c.-19 others(37): Show c.-1993_-1992insATATATTTTTTTTTTTTTTTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1890		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100608063	T T	TATATATA others(19): Show TATATATACATATATATGTATATATCG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01168.hp1 others(14): Show HG01071.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 NA20129.hp2	a0003 a0013 a0003 a0013	a0003c0004 a0003c0005 a0013c0021 a0003c0004 a0003c0005 a0013c0021	a0003c0004t0001 a0003c0005t0001 a0003c0005t0002 others(1): Show a0003c0004t0001 a0003c0005t0001 a0003c0005t0002 a0013c0021t0001	a0003c0004t0001g0209 a0003c0004t0001g0211 a0003c0004t0001g0288 others(14): Show a0003c0004t0001g0209 a0003c0004t0001g0211 a0003c0004t0001g0288 a0003c0004t0001g0308 a0003c0005t0001g0285 a0003c0005t0001g0289 a0003c0005t0002g0131 a0003c0005t0002g0147 a0003c0005t0002g0148 a0003c0005t0002g0149 a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0152 a0003c0005t0002g0154 a0003c0005t0002g0155 a0003c0005t0002g0156 a0013c0021t0001g0210	17	314	0.0541	26	c.478 others(43): Show c.4786-976_4786-975insCGATATATACATATATATGTATATAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608069	T T	TACATATA others(19): Show TACATATATATGTATATATCGATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18980.hp1 NA19000.hp1 HG01074.hp1 NA18980.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0002 a0001c0002t0003 a0002c0003t0002	a0001c0002t0003g0130 a0001c0002t0003g0139 a0002c0003t0002g0050 a0001c0002t0003g0130 a0001c0002t0003g0139 a0002c0003t0002g0050	3	314	0.0096	26	c.478 others(43): Show c.4786-982_4786-981insGTATATCGATATATACATATATATGT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608138	A A	ATATATAT others(19): Show ATATATATGTATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18747.hp1 NA19043.hp1 HG02647.hp2 NA18747.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0002 a0004c0008t0002 a0001c0002t0002 a0004c0008t0002	a0001c0002t0002g0084 a0001c0002t0002g0089 a0004c0008t0002g0020 a0001c0002t0002g0084 a0001c0002t0002g0089 a0004c0008t0002g0020	3	314	0.0096	26	c.478 others(45): Show c.4786-1051_4786-1050insCATATATATGTATATATACATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608289	T T	TTATATAC others(19): Show TTATATACCTTATATATGTATACCTTA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	314	0.0032	26	c.478 others(45): Show c.4786-1202_4786-1201insTAAGGTATACATATATAAGGTATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608398	C C	CTTATATA others(19): Show CTTATATATATACCTTATATATATATT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01192.hp1 HG03139.hp2 others(3): Show HG01123.hp1 HG01192.hp1 HG03139.hp2 HG03490.hp1 HG03492.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0131 a0003c0005t0002g0148 a0003c0005t0002g0149 others(3): Show a0003c0005t0002g0131 a0003c0005t0002g0148 a0003c0005t0002g0149 a0003c0005t0002g0150 a0003c0005t0002g0155 a0003c0005t0002g0156	6	314	0.0191	26	c.478 others(45): Show c.4786-1311_4786-1310insAATATATATATAAGGTATATATATAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608401	A A	ATATATAT others(19): Show ATATATATACCTTATATATGTATACCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19000.hp1 HG02523.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0002 a0001c0002t0003 a0002c0003t0002	a0001c0002t0003g0139 a0002c0003t0002g0046 a0001c0002t0003g0139 a0002c0003t0002g0046	2	314	0.0064	26	c.478 others(45): Show c.4786-1314_4786-1313insAGGTATACATATATAAGGTATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608466	A A	ATATATAT others(19): Show ATATATATATTTTATATATATATACTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00738.hp1 others(16): Show HG00140.hp2 HG00323.hp1 HG00738.hp1 HG01074.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01952.hp2 HG01978.hp1 HG02165.hp1 HG02451.hp2 HG02896.hp1 HG03209.hp1 HG03225.hp1 HG03492.hp1 HG04184.hp1 NA19030.hp2 NA20752.hp2	a0001 a0003 a0015 others(1): Show a0001 a0003 a0015 a0021	a0001c0001 a0001c0029 a0003c0026 others(2): Show a0001c0001 a0001c0029 a0003c0026 a0015c0030 a0021c0014	a0001c0001t0001 a0001c0001t0002 a0001c0029t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0029t0001 a0003c0026t0001 a0015c0030t0001 a0021c0014t0014	a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 others(16): Show a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0262 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0029t0001g0303 a0003c0026t0001g0259 a0015c0030t0001g0233 a0021c0014t0014g0242	19	314	0.0605	26	c.478 others(45): Show c.4786-1379_4786-1378insAAGTATATATATATAAAATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608733	A A	ATATATAT others(19): Show ATATATATATTTTATATATATATACTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0300 a0001c0001t0015g0300	1	314	0.0032	26	c.478 others(45): Show c.4786-1646_4786-1645insAAGTATATATATATAAAATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTTCTTT others(19): Show CTTTCTTTCATTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	26	c.31 others(37): Show c.3126_*3127insTTTCTTTCATTCTTTCTTTCTTTCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962441	T T	TTTCATTC others(19): Show TTTCATTCTTTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(24): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01934.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG03710.hp2 HG04115.hp1 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA18948.hp1 NA18950.hp2 NA18961.hp1 NA18979.hp1 NA19011.hp1 NA19012.hp2 NA19085.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0013 a0012c0019	a0001c0001t0001 a0001c0001t0015 a0002c0002t0027 others(5): Show a0001c0001t0001 a0001c0001t0015 a0002c0002t0027 a0003c0003t0001 a0003c0003t0002 a0003c0003t0016 a0004c0013t0001 a0012c0019t0001	a0001c0001t0001g0001 a0001c0001t0015g0001 a0002c0002t0027g0001 others(5): Show a0001c0001t0001g0001 a0001c0001t0015g0001 a0002c0002t0027g0001 a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0016g0001 a0004c0013t0001g0001 a0012c0019t0001g0001	27	354	0.0763	26	c.31 others(37): Show c.3127_*3128insTTCATTCTTTCTTTCTTTCTTTCTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1929		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962452	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTCCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	26	c.31 others(37): Show c.3138_*3139insTCTTTCTTTCTTTCTTCCTTTCTTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1940		chr12	TogoVar
ASCL5_chr1_201108943_201132184	201111922	T T	TCCTCCTC others(19): Show TCCTCCTCTTCCTCCTCCTCCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0100 a0002c0002t0004g0100	1	418	0.0024	26	c.28 others(37): Show c.2829_*2830insGGTGGGGGAGGAGGAGGAAGAGGAGG	ASCL5	ENSG00000232237.5	transcript	ENST00000449188.3	protein_coding		2020		chr1	TogoVar
ASDURF_chr2_189656459_189671401	189665610	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	340	0.0029	26	c.220 others(41): Show c.220+184_220+185insGTATATATATATATATATATATATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASGR2_chr17_7096326_7119822	7097674	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	432	0.0023	26	c.39 others(37): Show c.3900_*3901insCACACACACACACACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3651		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02523.hp1 NA18949.hp1 others(1): Show HG02083.hp2 HG02523.hp1 NA18949.hp1 NA19090.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0001 a0001c0001t0022 a0009c0011t0001 a0001c0001t0001 a0001c0001t0022 a0009c0011t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0022g0113 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0022g0113 a0009c0011t0001g0127	4	182	0.0220	26	c.600 others(45): Show c.6008+4161_6008+4162insATATATATATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(19): Show AATATATATATATAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	182	0.0055	26	c.600 others(45): Show c.6008+4157_6008+4158insATATATATATATTTATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG03490.hp1 others(2): Show HG00639.hp2 HG01175.hp1 HG03490.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0017 a0001c0010t0001 a0001c0001t0001 a0001c0001t0017 a0001c0010t0001	a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0090 a0001c0001t0017g0034 a0001c0010t0001g0035	5	182	0.0275	26	c.600 others(45): Show c.6008+4132_6008+4157dupATATATATATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03540.hp2 HG02970.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0244 a0001c0001t0001g0245	2	330	0.0061	26	c.34 others(37): Show c.3420_*3421insTGTGTGTGTGTGTGTGTGTGTGTGTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		2412		chr8	TogoVar
ASIP_chr20_34236423_34274344	34258674	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00642.hp1 others(29): Show HG00099.hp1 HG00438.hp1 HG00642.hp1 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01517.hp2 HG02132.hp2 HG02145.hp1 HG02293.hp1 HG02451.hp1 HG02602.hp1 HG03453.hp2 HG03516.hp2 HG06807.hp1 NA18612.hp2 NA18943.hp2 NA18947.hp2 NA18962.hp1 NA18982.hp2 NA19000.hp1 NA19011.hp2 NA19056.hp1 NA19062.hp2 NA19085.hp1 NA19090.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0150 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0247 a0001c0001t0001g0248	32	306	0.1046	26	c.-10 others(43): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1452932	T T	TCCCGCCT others(19): Show TCCCGCCTCCGCGAGGCCACGCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18963.hp1 NA18980.hp2 others(2): Show NA18952.hp1 NA18963.hp1 NA18980.hp2 NA18990.hp2 NA18997.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0004c0006t0001g0025	5	185	0.0270	26	c.-11 others(34): Show c.-118_-93dupCGGGGGCGTGGCCTCGCGGAGGCGGG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		24		chrX	TogoVar
ASMT_chrX_1610059_1648081	1613185	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02630.hp2 others(8): Show HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03195.hp1 HG03540.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0010t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0003g0090 a0001c0003t0001g0171 a0002c0002t0001g0009 a0002c0002t0001g0020 a0002c0010t0001g0010	11	223	0.0493	26	c.-20 others(37): Show c.-2015_-2014insTCTTTCTTTCTTTCTTTCTCTCTCTC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1873		chrX	TogoVar
ASMT_chrX_1610059_1648081	1613199	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	223	0.0045	26	c.-20 others(37): Show c.-2001_-2000insTTTCTTTCTTTCTTTCTTTCTTTCTT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1859		chrX	TogoVar
ASMT_chrX_1610059_1648081	1625545	G G	GAAGGAAG others(19): Show GAAGGAAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02630.hp1 others(8): Show HG01891.hp1 HG02109.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02976.hp1 HG03453.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0009	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0003c0009t0001	a0001c0001t0001g0014 a0001c0001t0001g0204 a0001c0001t0001g0205 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0003t0001g0022 a0002c0002t0001g0002 a0002c0002t0001g0069 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0002g0159 a0003c0009t0001g0011	11	223	0.0493	26	c.374 others(43): Show c.374+1147_374+1148insAAGGAAGGGAGGGAGGGAGGGAGGGA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8			chrX	TogoVar
ASMT_chrX_1610059_1648081	1625546	G G	GAGGGAGG others(19): Show GAGGGAGGGAGGGAGGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	223	0.0045	26	c.374 others(43): Show c.374+1151_374+1176dupGGAGGGAGGGAGGGAGGGAGGGAAAG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1625551	A A	AGGGAGGG others(19): Show AGGGAGGGAGGGAGGGAGGGAAAGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(63): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG01168.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01993.hp1 HG02004.hp2 HG02080.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG03239.hp1 HG03491.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18939.hp2 NA18941.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18963.hp2 NA18969.hp2 NA18973.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18992.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA21309.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0009c0014 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0009c0014t0002 a0010c0015t0002	a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0041 others(63): Show a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0002g0039 a0001c0001t0002g0120 a0001c0001t0002g0132 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0190 a0001c0001t0002g0201 a0001c0003t0001g0038 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0091 a0001c0003t0001g0094 a0001c0003t0001g0107 a0001c0003t0001g0171 a0001c0003t0002g0142 a0001c0003t0002g0150 a0002c0002t0001g0003 a0002c0002t0001g0026 a0002c0002t0001g0066 a0002c0002t0001g0073 a0002c0002t0001g0089 a0002c0002t0001g0099 a0002c0002t0001g0108 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0151 a0002c0002t0001g0189 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0002g0112 a0002c0002t0002g0131 a0002c0002t0002g0146 a0002c0002t0002g0154 a0002c0002t0002g0156 a0002c0002t0002g0166 a0002c0002t0002g0172 a0002c0002t0002g0207 a0002c0002t0002g0213 a0002c0006t0001g0187 a0009c0014t0002g0075 a0010c0015t0002g0179	66	223	0.2960	26	c.374 others(43): Show c.374+1176_374+1177insGGGGGGAGGGAGGGAGGGAGGGAAAG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665610	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	340	0.0029	26	c.-93 others(41): Show c.-93+184_-93+185insGTATATATATATATATATATATATAT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASNS_chr7_97846677_97877408	97868519	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01358.hp1 HG00738.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0217 a0001c0001t0001g0184 a0001c0001t0001g0217	2	436	0.0046	26	c.249 others(41): Show c.249+388_249+389insCACACACACACACACACACACACACA	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/12			chr7	TogoVar
ASPG_chr14_104080700_104120582	104095963	G G	GATGCTTC others(19): Show GATGCTTCCTTGCGGCTGCTGCCCACC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0056 a0002c0003t0005g0056	1	368	0.0027	26	c.429 others(41): Show c.429+308_429+333dupATGCTTCCTTGCGGCTGCTGCCCACC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104097826	A A	ACGTATGG others(19): Show ACGTATGGAGGTTCTGCGTTAGAGATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG04228.hp2 HG02145.hp2 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0025 a0001c0006 a0003c0025	a0001c0006t0002 a0003c0025t0003 a0001c0006t0002 a0003c0025t0003	a0001c0006t0002g0125 a0003c0025t0003g0084 a0001c0006t0002g0125 a0003c0025t0003g0084	2	368	0.0054	26	c.513 others(41): Show c.513+191_513+216dupGTATGGAGGTTCTGCGTTAGAGATGC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104097846	A A	AGAGATGC others(19): Show AGAGATGCGTATGGAGGTTCTGCGTTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0126 a0001c0006t0002g0126	1	368	0.0027	26	c.513 others(41): Show c.513+216_513+217insGTATGGAGGTTCTGCGTTGGAGATGC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104097878	A A	ACGTATGG others(19): Show ACGTATGGAGGTTCTGCGTTAGAGATG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp1 others(5): Show HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01261.hp2 HG04204.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0003c0004t0003 a0001c0001t0004 a0003c0004t0003	a0001c0001t0004g0028 a0001c0001t0004g0032 a0003c0004t0003g0007 a0001c0001t0004g0028 a0001c0001t0004g0032 a0003c0004t0003g0007	8	368	0.0217	26	c.513 others(41): Show c.513+283_513+308dupCGTTAGAGATGCGTATGGAGGTTCTG	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104097917	C C	CTGCGTTA others(19): Show CTGCGTTAGAGATGCGTATGGAGGTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0208 a0002c0002t0002g0208	1	368	0.0027	26	c.513 others(41): Show c.513+305_513+306insTTGCGTTAGAGATGCGTATGGAGGTT	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104097930	G G	GCGTATGG others(19): Show GCGTATGGAGGTTCTACGTTAGAGATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0238 a0002c0003t0010g0238	1	368	0.0027	26	c.513 others(41): Show c.513+307_513+308insACGTTAGAGATACGTATGGAGGTTCT	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104097956	G G	GCATATGG others(19): Show GCATATGGAGGTTCTACGTTAGAGATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0010 a0001c0019t0010	a0001c0019t0010g0245 a0001c0019t0010g0245	1	368	0.0027	26	c.513 others(41): Show c.513+320_513+321insATATGGAGGTTCTACGTTAGAGATAC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104097972	C C	CGTTAGAG others(19): Show CGTTAGAGATGCGTATGGAGGTTCTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02818.hp1 HG01168.hp1 HG02818.hp1	a0011 a0012 a0011 a0012	a0011c0011 a0012c0012 a0011c0011 a0012c0012	a0011c0011t0023 a0012c0012t0023 a0011c0011t0023 a0012c0012t0023	a0011c0011t0023g0154 a0012c0012t0023g0237 a0011c0011t0023g0154 a0012c0012t0023g0237	2	368	0.0054	26	c.513 others(41): Show c.513+360_513+361insTGTTAGAGATGCGTATGGAGGTTCTG	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104098021	C C	CTGCGTTA others(19): Show CTGCGTTAGAGATGCGTATGGAGGTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0098 a0003c0004t0003g0098	1	368	0.0027	26	c.513 others(41): Show c.513+436_513+461dupTTGCGTTAGAGATGCGTATGGAGGTT	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104098112	G G	GCGTATGG others(19): Show GCGTATGGAGGTTATACCTTAGAGATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00673.hp2 others(36): Show HG00280.hp2 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02015.hp1 HG02129.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02738.hp2 HG02976.hp2 HG03834.hp2 HG04184.hp2 NA18944.hp2 NA18962.hp1 NA18962.hp2 NA18972.hp2 NA18977.hp1 NA18984.hp1 NA18993.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19067.hp1 NA19083.hp1 NA19088.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0007 a0002c0002 others(2): Show a0001c0006 a0001c0007 a0002c0002 a0002c0003 a0003c0004	a0001c0006t0028 a0001c0007t0008 a0002c0002t0002 others(4): Show a0001c0006t0028 a0001c0007t0008 a0002c0002t0002 a0002c0002t0022 a0002c0002t0027 a0002c0003t0009 a0003c0004t0003	a0001c0006t0028g0143 a0001c0007t0008g0247 a0002c0002t0002g0002 others(22): Show a0001c0006t0028g0143 a0001c0007t0008g0247 a0002c0002t0002g0002 a0002c0002t0002g0018 a0002c0002t0002g0053 a0002c0002t0002g0186 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0209 a0002c0002t0002g0225 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0022g0038 a0002c0002t0027g0204 a0002c0003t0009g0182 a0003c0004t0003g0103 a0003c0004t0003g0104	39	368	0.1060	26	c.513 others(41): Show c.513+487_513+488insATACCTTAGAGATACGTATGGAGGTT	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104098129	G G	CTTAGAGA others(19): Show CTTAGAGATACGTATGGAGGTTCTACG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp1 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0008 a0001c0007t0002 a0001c0007t0008	a0001c0007t0002g0248 a0001c0007t0008g0080 a0001c0007t0002g0248 a0001c0007t0008g0080	2	368	0.0054	26	c.513 others(41): Show c.513+491_513+492insCTTAGAGATACGTATGGAGGTTCTAC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15			chr14	TogoVar
ASPG_chr14_104080700_104120582	104098129	G G	GTTAGAGA others(19): Show GTTAGAGATGCGTATGGAGGTTATACC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01884.hp2 HG01891.hp2 others(9): Show HG00733.hp1 HG01884.hp2 HG01891.hp2 HG02074.hp2 HG02622.hp2 NA18906.hp2 NA18951.hp2 NA18995.hp1 NA19003.hp2 NA19065.hp2 NA19085.hp1 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0005 a0003c0004t0003 a0002c0003t0005 a0003c0004t0003	a0002c0003t0005g0022 a0002c0003t0005g0055 a0002c0003t0005g0056 others(6): Show a0002c0003t0005g0022 a0002c0003t0005g0055 a0002c0003t0005g0056 a0002c0003t0005g0057 a0002c0003t0005g0058 a0003c0004t0003g0012 a0003c0004t0003g0076 a0003c0004t0003g0088 a0003c0004t0003g0107	12	368	0.0326	26	c.513 others(41): Show c.513+500_513+501insGCGTATGGAGGTTATACCTTAGAGAT	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104098153	G G	ACGTTAGA others(19): Show ACGTTAGAGATACGTATGGAGGTTCTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20300.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0067 a0001c0007t0008g0079 a0001c0007t0008g0067 a0001c0007t0008g0079	2	368	0.0054	26	c.513 others(41): Show c.513+515_513+516insACGTTAGAGATACGTATGGAGGTTCT	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15			chr14	TogoVar
ASPHD2_chr22_26424260_26450015	26438646	C C	CACACATA others(19): Show CACACATATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp1 HG01175.hp2 others(7): Show HG00741.hp2 HG01168.hp1 HG01175.hp2 HG02004.hp2 HG02559.hp1 HG02723.hp2 HG03516.hp1 HG06807.hp2 NA19043.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 others(3): Show a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031	a0001c0001t0014g0016 a0001c0001t0023g0016 a0001c0001t0023g0164 others(4): Show a0001c0001t0014g0016 a0001c0001t0023g0016 a0001c0001t0023g0164 a0001c0001t0024g0049 a0001c0001t0025g0141 a0001c0001t0030g0016 a0001c0001t0031g0147	10	428	0.0234	26	c.887 others(43): Show c.887-3810_887-3809insCATATATATACATATATATATATACA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01928.hp1 HG02015.hp2 others(4): Show HG01106.hp2 HG01928.hp1 HG02015.hp2 NA18946.hp2 NA18979.hp1 NA19010.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 a0001c0015t0004	a0001c0001t0001g0035 a0001c0001t0001g0167 a0001c0001t0001g0172 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0004g0213 a0001c0001t0013g0106 a0001c0001t0015g0008 a0001c0015t0004g0248	7	258	0.0271	26	c.176 others(45): Show c.1764+8346_1764+8371dupACACACACACACACACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGAG others(19): Show AGAGAGAGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG03540.hp2 HG02717.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0015 a0001c0001t0007g0185 a0001c0001t0002g0015 a0001c0001t0007g0185	2	258	0.0078	26	c.-49 others(37): Show c.-4924_-4923insACACACACACACACACACACTCTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG04184.hp2 HG03942.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0003t0001g0186 a0001c0001t0001g0001 a0001c0003t0001g0186	2	296	0.0068	26	c.-18 others(37): Show c.-1897_-1896insTTTTTTTTTTTTTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASPRV1_chr2_69955089_69966631	69964937	A A	AATCAAGA others(19): Show AATCAAGACAAGCCCAAGACTGGGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	464	0.0022	26	c.-35 others(37): Show c.-3502_-3501insGGGCCCAGTCTTGGGCTTGTCTTGAT	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3307		chr2	TogoVar
ASPSCR1_chr17_81972629_82022406	81986725	G G	GTGGGAAG others(19): Show GTGGGAAGGTGACCGCGCGTCGGGCGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp2 HG01074.hp2 others(51): Show HG00621.hp2 HG01070.hp2 HG01074.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp2 NA18948.hp1 NA18951.hp2 NA18975.hp2 NA18977.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19056.hp2 NA19064.hp2 NA19081.hp1 NA19088.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0014 a0001c0017 a0001c0024 a0004c0010 a0004c0015 a0005c0009	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0014t0001 a0001c0017t0001 a0001c0024t0001 a0004c0010t0001 a0004c0015t0001 a0005c0009t0001	a0001c0001t0001g0064 a0001c0001t0001g0153 a0001c0001t0001g0155 others(46): Show a0001c0001t0001g0064 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0314 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0014t0001g0214 a0001c0017t0001g0169 a0001c0024t0001g0149 a0004c0010t0001g0148 a0004c0010t0001g0154 a0004c0010t0001g0157 a0004c0010t0001g0158 a0004c0015t0001g0023 a0005c0009t0001g0152	54	366	0.1475	26	c.374 others(43): Show c.374+1131_374+1156dupCGCGCGTCGGGCGCTGGGAAGGTGAC	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)