JoGo: Joint Open Genome and Omics Platform

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 (≤).

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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
IL3RA_chrX_1331785_1387689	1366343	CCGGGTGC others(10): Show CCGGGTGCGCGGGGTGAG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18985.hp1 NA18995.hp2 HG02886.hp1 NA18985.hp1 NA18995.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0002 a0001c0001t0004 a0003c0005t0002	a0001c0001t0004g0074 a0001c0001t0004g0092 a0003c0005t0002g0050 a0001c0001t0004g0074 a0001c0001t0004g0092 a0003c0005t0002g0050	3	115	0.0261	-17	c.874 others(34): Show c.874+1096_874+1112delTGCGCGGGGTGAGCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366371	GGGGTGAG others(10): Show GGGGTGAGCCGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG06807.hp2 HG02280.hp2 HG06807.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0004 a0001c0001 a0016c0004	a0001c0001t0003 a0016c0004t0007 a0001c0001t0003 a0016c0004t0007	a0001c0001t0003g0094 a0016c0004t0007g0093 a0001c0001t0003g0094 a0016c0004t0007g0093	2	115	0.0174	-17	c.874 others(34): Show c.874+1123_874+1139delTGAGCCGGGTGCGCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366397	CGGGGTGC others(10): Show CGGGGTGCGCGGGGTGAG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03209.hp1 HG02004.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0029 a0001c0001t0003g0083 a0001c0001t0002g0029 a0001c0001t0003g0083	2	115	0.0174	-17	c.874 others(34): Show c.874+1146_874+1162delGGGGTGCGCGGGGTGAG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366407	GGGGTGAG others(10): Show GGGGTGAGCGGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18906.hp1 HG00099.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0004 a0001c0001t0010 a0001c0003t0004	a0001c0001t0010g0039 a0001c0003t0004g0066 a0001c0001t0010g0039 a0001c0003t0004g0066	2	115	0.0174	-17	c.874 others(34): Show c.874+1159_874+1175delTGAGCGGGGTGCGCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366416	GGGGTGCG others(10): Show GGGGTGCGCGGGGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0004 a0009c0008t0004	a0009c0008t0004g0068 a0009c0008t0004g0068	1	115	0.0087	-17	c.874 others(34): Show c.874+1168_874+1184delTGCGCGGGGTGAGCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366435	GGGTGCGC others(10): Show GGGTGCGCGGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	115	0.0087	-17	c.874 others(34): Show c.874+1186_874+1202delTGCGCGGGGTGAGCCGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366451	CCGGGTGC others(10): Show CCGGGTGCGCGGGGTGAG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	115	0.0087	-17	c.874 others(34): Show c.874+1204_874+1220delTGCGCGGGGTGAGCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366705	GTGAGCGG others(10): Show GTGAGCGGGGTGCGCGGA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0004 a0015c0017t0001g0004	1	115	0.0087	-17	c.874 others(34): Show c.874+1454_874+1470delTGAGCGGGGTGCGCGGA	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366711	GGGGTGCG others(10): Show GGGGTGCGCGGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	115	0.0087	-17	c.874 others(34): Show c.874+1463_874+1479delTGCGCGGAGTGAGCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366720	GGAGTGAG others(10): Show GGAGTGAGCGGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02004.hp1 HG03239.hp1 others(1): Show HG00140.hp1 HG02004.hp1 HG03239.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013	a0001c0001t0003g0014 a0001c0001t0004g0065 a0001c0001t0004g0076 others(1): Show a0001c0001t0003g0014 a0001c0001t0004g0065 a0001c0001t0004g0076 a0001c0001t0013g0091	4	115	0.0348	-17	c.874 others(34): Show c.874+1470_874+1486delAGTGAGCGGGGTGCGCG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366927	GGGGTGAG others(10): Show GGGGTGAGCCGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	115	0.0087	-17	c.874 others(34): Show c.874+1679_874+1695delTGAGCCGGGTGCGCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366963	GGGGTGCG others(10): Show GGGGTGCGCCGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	115	0.0087	-17	c.874 others(34): Show c.874+1715_874+1731delTGCGCCGGGTGCGCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366999	GGGGTGAG others(10): Show GGGGTGAGCGGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	115	0.0087	-17	c.874 others(34): Show c.874+1751_874+1767delTGAGCGGGGTGCGCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367008	GGGGTGCG others(10): Show GGGGTGCGCGGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18995.hp2 NA19005.hp2 HG03453.hp2 NA18995.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0113 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0003g0113 a0001c0001t0004g0072 a0001c0001t0004g0074	3	115	0.0261	-17	c.874 others(34): Show c.874+1760_874+1776delTGCGCGGGGTGCGCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367025	CGGGGTGC others(10): Show CGGGGTGCGCGGGGTGAG	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0004 a0011c0014t0004	a0011c0014t0004g0044 a0011c0014t0004g0044	1	115	0.0087	-17	c.874 others(34): Show c.874+1774_874+1790delGGGGTGCGCGGGGTGAG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367306	GGGTGCGC others(10): Show GGGTGCGCGGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03710.hp1 HG03453.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0063 a0001c0001t0003g0088 a0001c0001t0002g0063 a0001c0001t0003g0088	2	115	0.0174	-17	c.874 others(34): Show c.874+2057_874+2073delTGCGCGGGGTGAGCCGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL5RA_chr3_3061324_3115374	3071580	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp2 HG03516.hp2 others(2): Show HG01243.hp1 HG02717.hp2 HG03516.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0087 a0001c0001t0101 a0001c0001t0172 others(2): Show a0001c0001t0087 a0001c0001t0101 a0001c0001t0172 a0001c0001t0178 a0002c0002t0159	a0001c0001t0087g0275 a0001c0001t0101g0274 a0001c0001t0172g0432 others(2): Show a0001c0001t0087g0275 a0001c0001t0101g0274 a0001c0001t0172g0432 a0001c0001t0178g0436 a0002c0002t0159g0390	5	454	0.0110	-17	c.117 others(36): Show c.1177-1286_1177-1270delTACACACACACACACAC	IL5RA	ENSG00000091181.20	transcript	ENST00000446632.7	protein_coding	11/11			chr3	TogoVar
ILF3_chr19_10649346_10697400	10657997	AAGCAATC others(10): Show AAGCAATCCTCCCACCTC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0328 a0001c0002t0018g0328	1	346	0.0029	-17	c.-91 others(34): Show c.-91+3514_-91+3530delAATCCTCCCACCTCAGC	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ILF3_chr19_10649346_10697400	10676260	GTTTGTTT others(10): Show GTTTGTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03471.hp2 NA18946.hp2 others(2): Show HG02698.hp2 HG03471.hp2 NA18946.hp2 NA19064.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0204 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0204 a0001c0001t0001g0250 a0001c0001t0001g0279 a0001c0001t0001g0316	5	346	0.0145	-17	c.412 others(32): Show c.412-899_412-883delGTTTTTTTTTTTTTTTT	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
IMMP2L_chr7_110657644_111567492	111268569	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp1 HG01243.hp2 others(12): Show HG01123.hp2 HG01192.hp1 HG01243.hp2 HG02109.hp2 HG02257.hp2 HG02523.hp1 HG02572.hp2 HG03017.hp2 HG03041.hp2 HG03471.hp1 HG03491.hp1 HG04184.hp1 NA19030.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0024 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0007g0072 a0001c0001t0011g0002 a0001c0001t0011g0025	15	84	0.1786	-17	c.239 others(38): Show c.239+218652_239+218668delAAAAAAAAAAAAAAAAA	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5			chr7	TogoVar
IMP4_chr2_130337897_130352967	130350152	CAGCCTCC others(10): Show CAGCCTCCCGAGTAGCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-17	c.36 others(28): Show c.3685_*3701delAGCCTCCCGAGTAGCTG	IMP4	ENSG00000136718.10	transcript	ENST00000259239.8	protein_coding		2186		chr2	TogoVar
IMPA2_chr18_11976507_12035877	11995744	CAACAGGG others(10): Show CAACAGGGCAACCAGAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	364	0.0028	-17	c.97- others(32): Show c.97-3304_97-3288delGGCAACCAGAAAAACAG	IMPA2	ENSG00000141401.12	transcript	ENST00000269159.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
IMPA2_chr18_11976507_12035877	12007662	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0262 a0001c0001t0001g0264	2	364	0.0055	-17	c.231 others(34): Show c.231-2211_231-2195delTTTCTTTCCTTTCTTTC	IMPA2	ENSG00000141401.12	transcript	ENST00000269159.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
IMPG2_chr3_101217546_101325575	101310559	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	360	0.0028	-17	c.335 others(34): Show c.335-6264_335-6248delTTTTTTTTTTTTTTTTT	IMPG2	ENSG00000081148.12	transcript	ENST00000193391.8	protein_coding	2/18			chr3	TogoVar
IMPG2_chr3_101217546_101325575	101312972	GGTCACAT others(10): Show GGTCACATGTTTCTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0105 a0001c0001t0014g0105	1	360	0.0028	-17	c.334 others(34): Show c.334+6595_334+6611delAAAAAGAAACATGTGAC	IMPG2	ENSG00000081148.12	transcript	ENST00000193391.8	protein_coding	2/18			chr3	TogoVar
INAFM2_chr15_40318692_40331715	40326113	AGCCATGT others(10): Show AGCCATGTCCTGTTGTGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 NA18983.hp2 NA19007.hp2 HG00597.hp2 NA18983.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0000 a0001c0001t0017g0000	3	402	0.0075	-17	c.15 others(28): Show c.1599_*1615delCATGTCCTGTTGTGGGC	INAFM2	ENSG00000259330.3	transcript	ENST00000638170.2	protein_coding	1/1	1599	INFO_REALIGN_3_PRIME	chr15	TogoVar
INHBC_chr12_57429784_57457062	57438258	TGAATGTT others(10): Show TGAATGTTAAAGTGGAAG	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0228 a0004c0005t0010g0228	1	396	0.0025	-17	c.313 others(34): Show c.313+3061_313+3077delAATGTTAAAGTGGAAGG	INHBC	ENSG00000175189.4	transcript	ENST00000309668.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
INHBE_chr12_57450307_57463025	57462413	GCGCCGGC others(10): Show GCGCCGGCCGGCCCGGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	446	0.0022	-17	c.55 others(28): Show c.5566_*5582delCGCCGGCCGGCCCGGCC	INHBE	ENSG00000139269.3	transcript	ENST00000266646.3	protein_coding		4389		chr12	TogoVar
INKA2_chr1_111717064_111744395	111740971	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02155.hp2 HG02165.hp1 others(14): Show HG02027.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 NA18943.hp2 NA18950.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18974.hp1 NA18981.hp1 NA18995.hp2 NA19011.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 a0001c0001t0026 a0001c0001t0044 a0001c0001t0091	a0001c0001t0001g0025 a0001c0001t0001g0183 a0001c0001t0005g0028 others(10): Show a0001c0001t0001g0025 a0001c0001t0001g0183 a0001c0001t0005g0028 a0001c0001t0005g0051 a0001c0001t0005g0187 a0001c0001t0005g0190 a0001c0001t0024g0048 a0001c0001t0024g0179 a0001c0001t0024g0180 a0001c0001t0026g0127 a0001c0001t0044g0188 a0001c0001t0044g0191 a0001c0001t0091g0178	17	434	0.0392	-17	c.-17 others(28): Show c.-1746_-1730delTTTTTTTTTTTTTTTTT	INKA2	ENSG00000197852.12	transcript	ENST00000357260.6	protein_coding		1577		chr1	TogoVar
INO80D_chr2_205988721_206091174	206071257	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG00642.hp2 others(44): Show HG00423.hp1 HG00639.hp1 HG00642.hp2 HG01069.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01928.hp1 HG02004.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02895.hp1 HG03130.hp1 HG03209.hp2 HG03492.hp1 HG03516.hp1 HG03927.hp2 HG03942.hp1 NA18612.hp1 NA18940.hp1 NA18943.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18967.hp2 NA18968.hp1 NA18979.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19054.hp2 NA19066.hp2 NA19077.hp2 NA19085.hp1 NA19085.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0003c0007	a0001c0001t0003 a0001c0001t0021 a0001c0001t0022 others(12): Show a0001c0001t0003 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0003t0002 a0001c0006t0001 a0002c0002t0001 a0002c0002t0010 a0002c0002t0039 a0002c0002t0046 a0002c0002t0056 a0002c0002t0060 a0003c0007t0001	a0001c0001t0003g0048 a0001c0001t0021g0046 a0001c0001t0021g0053 others(43): Show a0001c0001t0003g0048 a0001c0001t0021g0046 a0001c0001t0021g0053 a0001c0001t0022g0032 a0001c0001t0026g0004 a0001c0001t0028g0052 a0001c0001t0032g0045 a0001c0003t0002g0127 a0001c0003t0002g0160 a0001c0003t0002g0171 a0001c0006t0001g0188 a0002c0002t0001g0003 a0002c0002t0001g0096 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0172 a0002c0002t0001g0178 a0002c0002t0001g0192 a0002c0002t0001g0200 a0002c0002t0010g0137 a0002c0002t0010g0139 a0002c0002t0010g0173 a0002c0002t0010g0244 a0002c0002t0039g0130 a0002c0002t0046g0245 a0002c0002t0056g0177 a0002c0002t0060g0165 a0003c0007t0001g0181	47	334	0.1407	-17	c.-12 others(36): Show c.-123-8030_-123-8014delAAAAAAAAAAAAAAAAA	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding	1/10			chr2	TogoVar
INPP1_chr2_190338589_190376665	190373245	TTTTTTTT others(10): Show TTTTTTTTTTTTGTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0057 a0001c0004t0004g0057	1	410	0.0024	-17	c.18 others(28): Show c.1844_*1860delTTTTTTTTTTTGTTTTG	INPP1	ENSG00000151689.13	transcript	ENST00000392329.7	protein_coding		1581		chr2	TogoVar
INPP4B_chr4_142018160_142851301	142152066	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0002 a0001c0002t0004g0003	2	90	0.0222	-17	c.156 others(36): Show c.1564-6087_1564-6071delAAAAAAAAAAAAAAAAA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	17/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142215892	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp2 NA18906.hp1 HG03209.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0039 a0001c0002t0002g0001 a0001c0002t0002g0050 a0001c0002t0001g0039 a0001c0002t0002g0001 a0001c0002t0002g0050	3	90	0.0333	-17	c.837 others(34): Show c.837-6883_837-6867delTTTTTTTTTTTTTTTTT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	12/25			chr4	TogoVar
INPP5A_chr10_132532787_132788480	132572274	CTGGCAAG others(10): Show CTGGCAAGATGCCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02015.hp2 others(10): Show HG01109.hp2 HG01952.hp1 HG02015.hp2 HG02109.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03540.hp1 HG04199.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(10): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0002g0082 a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0003t0001g0080 a0001c0003t0002g0002 a0001c0003t0002g0081 a0001c0005t0001g0185 a0001c0005t0001g0186	13	204	0.0637	-17	c.75+ others(34): Show c.75+34140_75+34156delGCAAGATGCCCCTGGTG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132630598	GTCCATGA others(10): Show GTCCATGAGGGGAAGACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02015.hp2 others(4): Show HG01109.hp2 HG01952.hp1 HG02015.hp2 HG04199.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0010g0047 a0001c0001t0010g0048	7	204	0.0343	-17	c.118 others(36): Show c.118-15204_118-15188delACATCCATGAGGGGAAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132691813	CGGTCGCG others(10): Show CGGTCGCGGGAGACGTGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01361.hp2 HG01081.hp1 HG01361.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0179 a0002c0002t0001g0051 a0001c0001t0001g0179 a0002c0002t0001g0051	2	204	0.0098	-17	c.370 others(34): Show c.370+1375_370+1391delTGGTCGCGGGAGACGTG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132752595	AGGGGTGT others(10): Show AGGGGTGTGGCATGGAGT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp2 HG01255.hp2 others(32): Show HG01071.hp1 HG01167.hp2 HG01255.hp2 HG01261.hp1 HG01515.hp2 HG01952.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02486.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03579.hp2 HG03654.hp2 HG04184.hp2 NA18522.hp2 NA18945.hp2 NA18952.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18990.hp1 NA19010.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0001c0005t0018 a0001c0005t0019 a0001c0006t0001 a0001c0006t0008 a0001c0007t0008 a0001c0009t0008 a0001c0011t0001 a0002c0002t0004	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(32): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0017g0182 a0001c0003t0001g0145 a0001c0003t0004g0199 a0001c0003t0004g0202 a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0018g0038 a0001c0005t0019g0035 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144 a0001c0009t0008g0087 a0001c0011t0001g0172 a0002c0002t0004g0203	35	204	0.1716	-17	c.903 others(34): Show c.903+2784_903+2800delTGGGGTGTGGCATGGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132788393	GGGCCCCG others(10): Show GGGCCCCGTCCCCTCTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0176 a0001c0001t0006g0177	2	204	0.0098	-17	c.63 others(28): Show c.6365_*6381delGGCCCCGTCCCCTCTCC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding		4914		chr10	TogoVar
INPP5D_chr2_233055342_233212903	233065635	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0241 a0001c0001t0007g0241	1	310	0.0032	-17	c.134 others(34): Show c.134+5027_134+5043delCTTTCTTTCTTTCTTTT	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233095615	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01891.hp2 HG03540.hp2 others(1): Show HG00323.hp2 HG01891.hp2 HG03540.hp2 NA18747.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0024 a0002c0002 others(1): Show a0001c0001 a0001c0024 a0002c0002 a0004c0012	a0001c0001t0008 a0001c0024t0017 a0002c0002t0004 others(1): Show a0001c0001t0008 a0001c0024t0017 a0002c0002t0004 a0004c0012t0002	a0001c0001t0008g0249 a0001c0024t0017g0244 a0002c0002t0004g0146 others(1): Show a0001c0001t0008g0249 a0001c0024t0017g0244 a0002c0002t0004g0146 a0004c0012t0002g0263	4	310	0.0129	-17	c.198 others(36): Show c.198+16229_198+16245delAAAAAAAAAAAAAAAAA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233137854	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03516.hp1 NA19240.hp2 HG02257.hp1 HG03516.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0003 a0001c0001t0005 a0002c0002t0003	a0001c0001t0005g0189 a0002c0002t0003g0187 a0002c0002t0003g0202 a0001c0001t0005g0189 a0002c0002t0003g0187 a0002c0002t0003g0202	3	310	0.0097	-17	c.666 others(34): Show c.666-1987_666-1971delTATATATATATATATAT	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	5/26			chr2	TogoVar
INPP5D_chr2_233055342_233212903	233186684	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0246 a0001c0001t0006g0246	1	310	0.0032	-17	c.235 others(34): Show c.2358+799_2358+815delTTTTTTTTTTTTTTTTT	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INSC_chr11_15109923_15252208	15133335	TATTTGGT others(10): Show TATTTGGTTCTTTCTCAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	270	0.0037	-17	c.-45 others(36): Show c.-45-15790_-45-15774delGGTTCTTTCTCAAATTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15154087	ATTTATGT others(10): Show ATTTATGTATATGTCATC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	270	0.0037	-17	c.56+ others(32): Show c.56+4861_56+4877delATGTATATGTCATCTTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15229996	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03017.hp2 HG03486.hp1 others(2): Show HG01074.hp2 HG03017.hp2 HG03486.hp1 NA18959.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0002g0008 a0001c0001t0002g0073 a0001c0001t0002g0185 others(2): Show a0001c0001t0002g0008 a0001c0001t0002g0073 a0001c0001t0002g0185 a0001c0003t0001g0142 a0001c0003t0002g0214	5	270	0.0185	-17	c.117 others(36): Show c.1170+4186_1170+4202delATATATATATATATATA	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSL3_chr19_17811512_17826519	17814613	CCTGAGCA others(10): Show CCTGAGCAGAATTTAAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	452	0.0022	-17	c.22 others(28): Show c.2224_*2240delATTTAAATTCTGCTCAG	INSL3	ENSG00000248099.4	transcript	ENST00000317306.8	protein_coding		1898		chr19	TogoVar
INSL5_chr1_66792740_66806276	66800361	AAATAGGT others(10): Show AAATAGGTGACATTTTGT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	450	0.0022	-17	c.175 others(32): Show c.175+669_175+685delACAAAATGTCACCTATT	INSL5	ENSG00000172410.5	transcript	ENST00000304526.3	protein_coding	1/1			chr1	TogoVar
INSR_chr19_7107265_7299414	7124541	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02155.hp1 HG00558.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0031 a0001c0019t0008 a0001c0001t0031 a0001c0019t0008	a0001c0001t0031g0244 a0001c0019t0008g0278 a0001c0001t0031g0244 a0001c0019t0008g0278	2	300	0.0067	-17	c.325 others(34): Show c.3258+725_3258+741delTTTTTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124573	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0033 a0001c0021t0033	a0001c0021t0033g0121 a0001c0021t0033g0121	1	300	0.0033	-17	c.325 others(34): Show c.3258+693_3258+709delATTTTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124575	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	300	0.0033	-17	c.325 others(34): Show c.3258+691_3258+707delATATTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar

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Search Results (Total: 9132 hits)