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 (≤).

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⚠️ 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
ADRA1D_chr20_4215630_4254287	4231064	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0339 a0001c0001t0005g0339	1	452	0.0022	32	c.111 others(51): Show c.1112-8935_1112-8934insGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADSS2_chr1_244403494_244456909	244444514	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	408	0.0025	32	c.184 others(49): Show c.184-6747_184-6746insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	1/12			chr1	TogoVar
AEBP2_chr12_19434492_19527227	19522103	T T	TCTGTTAA others(25): Show TCTGTTAAACTTTTTTTTGATTCTAGAAATTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0344 a0001c0001t0026g0344	1	404	0.0025	32	c.39 others(43): Show c.3986_*3987insCTGTTAAACTTTTTTTTGATTCTAGAAATTGA	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	8/8	3987		chr12	TogoVar
AFAP1L2_chr10_114289824_114409502	114327135	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	262	0.0038	32	c.316 others(49): Show c.316-3875_316-3874insTATATATATATATATATATATATATATA TATA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114327137	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	262	0.0038	32	c.316 others(49): Show c.316-3877_316-3876insTATATATATATATATATATATATATATA TATA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG01257.hp2 others(9): Show HG00738.hp1 HG01257.hp1 HG01257.hp2 HG02027.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp2 NA18950.hp1 NA18962.hp1 NA18963.hp2 NA19056.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0001c0001t0001 a0001c0001t0004 a0001c0003t0002	a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 others(9): Show a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0123 a0001c0001t0001g0150 a0001c0001t0001g0188 a0001c0001t0004g0075 a0001c0001t0004g0146 a0001c0001t0004g0178 a0001c0001t0004g0227 a0001c0003t0002g0062 a0001c0003t0002g0254	12	262	0.0458	32	c.316 others(49): Show c.316-3887_316-3886insTATATATATATATATATATATATATATA TATA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1_chr4_7753714_7944861	7827569	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02698.hp1 HG04115.hp2 HG02071.hp2 HG02698.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0023 a0002c0008 a0001c0007 a0001c0023 a0002c0008	a0001c0007t0021 a0001c0023t0001 a0002c0008t0004 a0001c0007t0021 a0001c0023t0001 a0002c0008t0004	a0001c0007t0021g0254 a0001c0023t0001g0132 a0002c0008t0004g0146 a0001c0007t0021g0254 a0001c0023t0001g0132 a0002c0008t0004g0146	3	318	0.0094	32	c.727 others(49): Show c.727-8399_727-8398insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7848099	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02145.hp2 NA18522.hp2 HG00323.hp2 HG02145.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0007 a0001c0004t0062 a0001c0012t0018 a0001c0004t0007 a0001c0004t0062 a0001c0012t0018	a0001c0004t0007g0271 a0001c0004t0062g0241 a0001c0012t0018g0199 a0001c0004t0007g0271 a0001c0004t0062g0241 a0001c0012t0018g0199	3	318	0.0094	32	c.335 others(49): Show c.335-4750_335-4749insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	4/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7899857	A A	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03490.hp2 HG03492.hp2 others(3): Show HG01943.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp1 NA18967.hp2 NA18968.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0019 a0001c0002 a0004c0019	a0001c0002t0003 a0001c0002t0005 a0004c0019t0029 a0001c0002t0003 a0001c0002t0005 a0004c0019t0029	a0001c0002t0003g0099 a0001c0002t0003g0118 a0001c0002t0003g0130 others(3): Show a0001c0002t0003g0099 a0001c0002t0003g0118 a0001c0002t0003g0130 a0001c0002t0005g0111 a0004c0019t0029g0191 a0004c0019t0029g0192	6	318	0.0189	32	c.-2- others(49): Show c.-2-27778_-2-27777insATTTATTTATTTATTTATTTATTTATTT ATTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7899881	T T	TAAATAAA others(25): Show TAAATAAATAAATAAATAAATAAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0003 a0001c0037t0003	a0001c0037t0003g0115 a0001c0037t0003g0115	1	318	0.0031	32	c.-2- others(49): Show c.-2-27802_-2-27801insTTTTATTTATTTATTTATTTATTTATTT ATTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17			chr4	TogoVar
AFF1_chr4_86930011_87146039	87130060	T T	TGCCTCCC others(25): Show TGCCTCCCATATTCAAGCGACTCTCCTGCCTCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp1 HG03130.hp1 HG02145.hp2 HG02976.hp1 HG03130.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0210 a0001c0007t0008g0211 a0001c0007t0008g0237 a0001c0007t0008g0210 a0001c0007t0008g0211 a0001c0007t0008g0237	3	294	0.0102	32	c.296 others(50): Show c.2965-1014_2965-983dupTATTCAAGCGACTCTCCTGCCTCAGCC TCCCA	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF2_chrX_148495617_149005663	148581478	G G	GTATATAC others(25): Show GTATATACGTCTACGTGTACACACATATATACG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0124 a0001c0001t0010g0124	1	169	0.0059	32	c.48- others(49): Show c.48-70548_48-70517dupTACGTCTACGTGTACACACATATATACG TATA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148762409	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA21309.hp1 HG02886.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0066 a0001c0005t0023 a0001c0001t0066 a0001c0005t0023	a0001c0001t0066g0015 a0001c0005t0023g0129 a0001c0001t0066g0015 a0001c0005t0023g0129	2	169	0.0118	32	c.104 others(53): Show c.1042-47455_1042-47454insTATATATATATATATATATATATA TATATATA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148762420	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0118 a0001c0001t0110g0118	1	169	0.0059	32	c.104 others(53): Show c.1042-47455_1042-47454insTATATATATATATATATATATATA TATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148762420	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp1 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0046 a0001c0002t0094 a0001c0001t0046 a0001c0002t0094	a0001c0001t0046g0165 a0001c0002t0094g0106 a0001c0001t0046g0165 a0001c0002t0094g0106	2	169	0.0118	32	c.104 others(53): Show c.1042-47455_1042-47454insTATATATATATATATATATATATA TATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148983953	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0118 a0001c0001t0110g0118	1	169	0.0059	32	c.362 others(51): Show c.3623+3178_3623+3179insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148983965	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0007 a0001c0001t0093g0007	1	169	0.0059	32	c.362 others(51): Show c.3623+3178_3623+3179insAAAAAAAAAAAAAAAAAAAAAAAAAA AACAAA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF3_chr2_99540419_100147590	99648911	A A	ACTCTCTC others(25): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	100	0.0100	32	c.118 others(49): Show c.1184+714_1184+715insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFF3_chr2_99540419_100147590	99648917	A A	ACACACAC others(25): Show ACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG04115.hp2 HG03209.hp2 HG04115.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0033 a0003c0006t0003 a0001c0001t0033 a0003c0006t0003	a0001c0001t0033g0038 a0003c0006t0003g0069 a0001c0001t0033g0038 a0003c0006t0003g0069	2	100	0.0200	32	c.118 others(49): Show c.1184+708_1184+709insAGAGAGAGAGAGAGAGAGTGTGTGTGTG TGTG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFF3_chr2_99540419_100147590	99648917	A A	ACACACAC others(25): Show ACACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG02970.hp2 others(2): Show HG00639.hp2 HG00738.hp1 HG02970.hp2 HG03130.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0016 a0001c0003t0001 a0001c0004t0007 a0001c0001t0016 a0001c0003t0001 a0001c0004t0007	a0001c0001t0016g0003 a0001c0003t0001g0065 a0001c0003t0001g0067 others(2): Show a0001c0001t0016g0003 a0001c0003t0001g0065 a0001c0003t0001g0067 a0001c0004t0007g0093 a0001c0004t0007g0096	5	100	0.0500	32	c.118 others(49): Show c.1184+708_1184+709insAGAGAGAGAGAGAGAGAGAGAGTGTGTG TGTG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFG3L2_chr18_12323944_12382227	12332945	A A	AATATATA others(25): Show AATATATATTATATATAACATATACTATATAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18959.hp2 NA18966.hp2 others(1): Show HG00544.hp2 NA18959.hp2 NA18966.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0161 a0001c0001t0001g0172	4	376	0.0106	32	c.217 others(51): Show c.2176-3163_2176-3162insATTATATAGTATATGTTATATATAAT ATATAT	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	16/16			chr18	TogoVar
AFP_chr4_73431221_73461174	73459177	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02055.hp1 HG01192.hp2 HG02055.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0002 a0001c0005t0002g0002	2	390	0.0051	32	c.35 others(43): Show c.3557_*3558insTGTGTGTGTGTGTGTGTGTGTGTGTGTATGCA	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding		3004		chr4	TogoVar
AGAP1_chr2_235489043_236136793	236025908	G G	GTGGGTGG others(25): Show GTGGGTGGGTGGGTGGGTGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03579.hp1 HG02080.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0005 a0001c0001t0026	a0001c0001t0005g0012 a0001c0001t0026g0095 a0001c0001t0005g0012 a0001c0001t0026g0095	2	98	0.0204	32	c.164 others(53): Show c.1646-10650_1646-10649insGTGGGTGGGTGGGTGGATGGATGG ATGGATGG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL1_chr15_86074871_86921156	86262078	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp2 HG01099.hp2 others(3): Show HG00544.hp2 HG00738.hp2 HG01099.hp2 HG03017.hp1 NA18747.hp1 NA18994.hp1	a0001 a0021 a0001 a0021	a0001c0003 a0001c0006 a0001c0012 others(2): Show a0001c0003 a0001c0006 a0001c0012 a0001c0013 a0021c0048	a0001c0003t0002 a0001c0006t0007 a0001c0012t0041 others(2): Show a0001c0003t0002 a0001c0006t0007 a0001c0012t0041 a0001c0013t0005 a0021c0048t0002	a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0006t0007g0018 others(3): Show a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0006t0007g0018 a0001c0012t0041g0062 a0001c0013t0005g0118 a0021c0048t0002g0029	6	132	0.0455	32	c.970 others(47): Show c.970-684_970-683insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19002.hp1 NA18994.hp2 NA19002.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0040 a0001c0002 a0003c0040	a0001c0002t0002 a0003c0040t0004 a0001c0002t0002 a0003c0040t0004	a0001c0002t0002g0010 a0003c0040t0004g0089 a0001c0002t0002g0010 a0003c0040t0004g0089	2	132	0.0152	32	c.222 others(51): Show c.2220+6966_2220+6967insTATATATATATATATATATATATATA TATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18943.hp2 HG03471.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0022 a0001c0006t0036 a0001c0002t0022 a0001c0006t0036	a0001c0002t0022g0041 a0001c0006t0036g0083 a0001c0002t0022g0041 a0001c0006t0036g0083	2	132	0.0152	32	c.222 others(51): Show c.2220+6953_2220+6954insGTATATATATATATATATATATATAT ATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86386076	C C	CCCCCTCC others(25): Show CCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0045 a0001c0006t0045	a0001c0006t0045g0044 a0001c0006t0045g0044	1	132	0.0076	32	c.237 others(53): Show c.2375-11283_2375-11252dupCTCCCCCTCCTCCCCCTCCTCCTC CTCCCCTC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86386102	T T	TCCTCCTC others(25): Show TCCTCCTCCCCTCTCCCCCTCCTCCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0008 a0008	a0008c0058 a0008c0058	a0008c0058t0010 a0008c0058t0010	a0008c0058t0010g0053 a0008c0058t0010g0053	1	132	0.0076	32	c.237 others(53): Show c.2375-11221_2375-11190dupTCTCCCCCTCCTCCCCTCTCCCCC TCCTCCCC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86735653	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02896.hp2 HG00423.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0076 a0001c0001t0006g0093 a0001c0001t0001g0076 a0001c0001t0006g0093	2	132	0.0152	32	c.315 others(53): Show c.3158+61218_3158+61219insTATATATATATATATATATATATA TATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0047	1	356	0.0028	32	c.848 others(47): Show c.848+373_848+374insATATATATATATTTTTTTTTTTTTTTTTTT TT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0100 a0002c0002t0002g0100	1	356	0.0028	32	c.848 others(47): Show c.848+373_848+374insATATATATATATATATTTTTTTTTTTTTTT TT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	356	0.0028	32	c.848 others(47): Show c.848+373_848+374insATATATATATATATATATATATATTTTTTT TT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL3_chr7_134981508_135140778	135096568	G G	GATAGATA others(25): Show GATAGATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01256.hp1 HG01358.hp2 others(5): Show HG00323.hp2 HG01256.hp1 HG01358.hp2 HG01928.hp1 HG01952.hp1 HG03669.hp1 NA18967.hp1 NA19086.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0012	a0001c0001 a0002c0002 a0005c0018 others(1): Show a0001c0001 a0002c0002 a0005c0018 a0012c0009	a0001c0001t0003 a0002c0002t0002 a0005c0018t0003 others(1): Show a0001c0001t0003 a0002c0002t0002 a0005c0018t0003 a0012c0009t0002	a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0239 others(5): Show a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0243 a0002c0002t0002g0027 a0005c0018t0003g0206 a0012c0009t0002g0016	8	320	0.0250	32	c.211 others(53): Show c.2110+14793_2110+14794insGATAGATAGATAGATACATAGATA GATAGATA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135096572	G G	GATAGATA others(25): Show GATAGATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp2 HG01433.hp1 others(15): Show HG01070.hp2 HG01192.hp2 HG01433.hp1 HG02040.hp1 HG02683.hp1 HG03834.hp1 HG04199.hp2 HG06807.hp1 NA18962.hp1 NA18981.hp1 NA18982.hp2 NA18988.hp1 NA18992.hp1 NA19004.hp2 NA19012.hp2 NA19082.hp1 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007	a0001c0001t0002g0193 a0001c0001t0002g0226 a0001c0001t0003g0187 others(15): Show a0001c0001t0002g0193 a0001c0001t0002g0226 a0001c0001t0003g0187 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0207 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0228 a0001c0001t0003g0245 a0002c0002t0002g0030 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0053 a0002c0002t0003g0248 a0002c0002t0007g0048	18	320	0.0563	32	c.211 others(53): Show c.2110+14793_2110+14794insGATAGATAGATAGATAGATACATA GATAGATA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135096576	G G	GATAGATA others(25): Show GATAGATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18968.hp2 NA18995.hp1 NA18953.hp2 NA18968.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0141 a0001c0001t0002g0191 a0001c0001t0002g0011 a0001c0001t0002g0141 a0001c0001t0002g0191	3	320	0.0094	32	c.211 others(53): Show c.2110+14793_2110+14794insGATAGATAGATAGATAGATAGATA CATAGATA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL4_chr1_48527854_50028954	48996817	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	104	0.0096	32	c.594 others(51): Show c.594+48735_594+48766dupAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49303451	T T	TTTTATTT others(25): Show TTTTATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp2 HG02572.hp1 HG03453.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0004c0009t0004 a0001c0001t0002 a0004c0009t0004	a0001c0001t0002g0022 a0004c0009t0004g0020 a0001c0001t0002g0022 a0004c0009t0004g0020	2	104	0.0192	32	c.283 others(51): Show c.283-57588_283-57587insTAAATAAATAAATAAATAAATAAATA AATAAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13			chr1	TogoVar
AGFG2_chr7_100534203_100573220	100551030	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03239.hp1 NA19068.hp2 HG02071.hp1 HG03239.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0020 a0001c0001t0001 a0002c0002t0020	a0001c0001t0001g0187 a0001c0001t0001g0192 a0002c0002t0020g0107 a0001c0001t0001g0187 a0001c0001t0001g0192 a0002c0002t0020g0107	3	246	0.0122	32	c.431 others(47): Show c.431+525_431+556dupATATATATATATATATATATATATATATAT AT	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGK_chr7_141546410_141660244	141602172	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	274	0.0037	32	c.297 others(47): Show c.297+892_297+893insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	5/15			chr7	TogoVar
AGL_chr1_99845361_99929020	99857800	T T	TGGGGAGG others(25): Show TGGGGAGGGGGAGGGGGGGAGAGGGAGACCGTG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0094 a0001c0002t0022g0094	1	318	0.0031	32	c.83- others(47): Show c.83-3686_83-3685insGAGAGGGAGACCGTGGGGGAGGGGGAGGGG GG	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGL_chr1_99845361_99929020	99857811	A A	AGGGGGGG others(25): Show AGGGGGGGAGAGGGAGACCGTGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02055.hp1 HG01993.hp2 HG02055.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0015 a0002c0003 a0003c0015	a0002c0003t0005 a0003c0015t0012 a0002c0003t0005 a0003c0015t0012	a0002c0003t0005g0054 a0003c0015t0012g0199 a0002c0003t0005g0054 a0003c0015t0012g0199	2	318	0.0063	32	c.83- others(47): Show c.83-3686_83-3685insGAGAGGGAGACCGTGGGGAGGGGGAGGGGG GG	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGL_chr1_99845361_99929020	99857834	G G	GGAGGGGG others(25): Show GGAGGGGGAGGGGGGAGAGGGAGACCGTGGGGA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0171 a0004c0005t0002g0171	1	318	0.0031	32	c.83- others(47): Show c.83-3669_83-3668insGAGGGGGAGGGGGGAGAGGGAGACCGTGGG GA	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33			chr1	TogoVar
AGL_chr1_99845361_99929020	99857846	G G	GGGAGAGG others(25): Show GGGAGAGGGAGACCGTGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0004 a0007c0009t0004	a0007c0009t0004g0053 a0007c0009t0004g0053	1	318	0.0031	32	c.83- others(47): Show c.83-3657_83-3656insGGAGAGGGAGACCGTGGGGAGGGGGAGGGG GA	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33			chr1	TogoVar
AGMO_chr7_15195317_15567015	15198205	G G	GAGACAGA others(25): Show GAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0201 a0001c0001t0005g0201	1	236	0.0042	32	c.30 others(43): Show c.3079_*3080insGTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding		2111		chr7	TogoVar
AGMO_chr7_15195317_15567015	15354309	T T	TACACACG others(25): Show TACACACGCGTGTATATACGTACGCGTGTATAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	236	0.0042	32	c.126 others(53): Show c.1263+11204_1263+11205insGTATACACGCGTACGTATATACAC GCGTGTGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354496	G G	GTGTATAT others(25): Show GTGTATATATACACGTGTGTATACACACGTGTA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	236	0.0042	32	c.126 others(53): Show c.1263+11017_1263+11018insTACACGTGTGTATACACACGTGTA TATATACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15432369	C C	CACATATA others(25): Show CACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	236	0.0042	32	c.410 others(49): Show c.410-1262_410-1261insATATATATATATATATATATATATATAT ATGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15432379	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	236	0.0042	32	c.410 others(49): Show c.410-1272_410-1271insGTATATATATATATATATATATATATAT ATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGO1_chr1_35878209_35935532	35932997	T T	TAACATCA others(25): Show TAACATCATATCAATAGAAAATATTAAACGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0004 a0001c0002t0057g0004	1	278	0.0036	32	c.13 others(45): Show c.13390_*13391insAACATCATATCAATAGAAAATATTAAACGTTA	AGO1	ENSG00000092847.14	transcript	ENST00000373204.6	protein_coding		2466		chr1	TogoVar
AGO4_chr1_35803016_35862890	35818658	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	270	0.0037	32	c.185 others(49): Show c.185+1614_185+1615insAAAGAAAGAAAGAAAGGAAGAAAGGAAG GAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)