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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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
AZU1_chr19_822837_837018	831969	T T	TCCGGCCA others(28): Show TCCGGCCAGAGGGGGCCCTGGCTGTAATAAAGAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0005 a0008c0016t0005	a0008c0016t0005g0044 a0008c0016t0005g0044	1	391	0.0026	35	c.10 others(44): Show c.105_*106insGCCCTGGCTGTAATAAAGAAGCCCGGCCAGAGGGG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	5/5	106	INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GALT5_chr21_39607940_39678137	39647731	T T	TGCAAACC others(28): Show TGCAAACCACAGACAAAGGGTTGGGGAAGGAAAGAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0121 a0001c0001t0053g0121	1	336	0.0030	35	c.-16 others(54): Show c.-161+1110_-161+1111insCAAACCACAGACAAAGGGTTGGGGAA GGAAAGAGG	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0067 a0002c0002t0003g0067	1	268	0.0037	35	c.-38 others(46): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATA T	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0006 a0002c0002t0011g0006	1	268	0.0037	35	c.-38 others(46): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATT T	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0031 a0002c0002t0003g0031	1	268	0.0037	35	c.-38 others(46): Show c.-3878_-3877insTATATATATATATATATATATATATATATATTTT T	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG03942.hp1 NA18945.hp1 others(4): Show HG00609.hp1 HG03942.hp1 NA18945.hp1 NA18945.hp2 NA18990.hp2 NA19086.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 a0002c0002t0006	a0001c0001t0001g0156 a0001c0001t0006g0197 a0002c0002t0002g0133 others(4): Show a0001c0001t0001g0156 a0001c0001t0006g0197 a0002c0002t0002g0133 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0006g0141	7	268	0.0261	35	c.-38 others(46): Show c.-3878_-3877insTATATATATATATATATATATATTTTTTTTTTTT T	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA19072.hp2 NA18984.hp1 NA19072.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0008 a0001c0001t0001 a0002c0002t0008	a0001c0001t0001g0118 a0002c0002t0008g0143 a0001c0001t0001g0118 a0002c0002t0008g0143	2	268	0.0075	35	c.-38 others(46): Show c.-3878_-3877insTATATATATATATATATATATTTTTTTTTTTTTT T	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	268	0.0037	35	c.106 others(54): Show c.1065-1159_1065-1158insATATATATATATATATATATATATAT ATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14			chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0158 a0001c0001t0006g0158	1	268	0.0037	35	c.106 others(54): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14			chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82959021	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTACACTGTGGGGGTGTATGGTGTGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0008 a0001c0016t0001g0008	1	266	0.0038	35	c.681 others(52): Show c.681-1528_681-1527insACACACCATACACCCCCACAGTGTACAC ACACACA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003030	T T	TCCCACTC others(28): Show TCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01361.hp1 others(7): Show HG00408.hp1 HG00438.hp1 HG01361.hp1 HG01934.hp1 HG02015.hp2 HG02027.hp2 HG02132.hp2 HG02165.hp2 HG02896.hp1 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(2): Show a0001c0001 a0001c0002 a0001c0014 a0002c0005 a0002c0009	a0001c0001t0002 a0001c0001t0032 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0001t0032 a0001c0002t0002 a0001c0014t0001 a0002c0005t0003 a0002c0009t0003 a0002c0009t0013	a0001c0001t0002g0058 a0001c0001t0032g0162 a0001c0002t0002g0086 others(7): Show a0001c0001t0002g0058 a0001c0001t0032g0162 a0001c0002t0002g0086 a0001c0002t0002g0095 a0001c0002t0002g0112 a0001c0014t0001g0012 a0002c0005t0003g0056 a0002c0005t0003g0057 a0002c0009t0003g0090 a0002c0009t0013g0087	10	266	0.0376	35	c.459 others(52): Show c.459+2084_459+2085insCTCAGGAATCCCACACGCGGACTGCAGA GAGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	512192	C C	CGCCTTCC others(28): Show CGCCTTCCACCTTCCACCTTCCACCTTCCGCCTTCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02273.hp2 HG00735.hp2 HG02273.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0002 a0008c0012t0010 a0001c0001t0002 a0008c0012t0010	a0001c0001t0002g0054 a0008c0012t0010g0389 a0001c0001t0002g0054 a0008c0012t0010g0389	2	394	0.0051	35	c.170 others(54): Show c.170-22946_170-22945insGCCTTCTGCCTTCCACCTTCCACCTT CCACCTTCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	369395	G G	GCCCCGCC others(28): Show GCCCCGCCCCGCCTTCCCGCGCCCCGCCCCGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG03041.hp1 others(4): Show HG02109.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 NA19240.hp2	a0002 a0004 a0024 a0002 a0004 a0024	a0002c0008 a0002c0034 a0004c0037 others(2): Show a0002c0008 a0002c0034 a0004c0037 a0004c0038 a0024c0036	a0002c0008t0001 a0002c0034t0003 a0004c0037t0001 others(2): Show a0002c0008t0001 a0002c0034t0003 a0004c0037t0001 a0004c0038t0001 a0024c0036t0001	a0002c0008t0001g0009 a0002c0008t0001g0158 a0002c0008t0001g0160 others(4): Show a0002c0008t0001g0009 a0002c0008t0001g0158 a0002c0008t0001g0160 a0002c0034t0003g0017 a0004c0037t0001g0024 a0004c0038t0001g0021 a0024c0036t0001g0023	7	184	0.0380	35	c.-40 others(44): Show c.-409_-408insCCCCGCCCCGCCTTCCCGCGCCCCGCCCCGCCTCC	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		103		chr11	TogoVar
B4GALNT4_chr11_364499_387117	374775	A A	AGGAAGGG others(28): Show AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0001 a0016c0024t0001	a0016c0024t0001g0012 a0016c0024t0001g0012	1	184	0.0054	35	c.784 others(50): Show c.784-672_784-671insGAGGAGGAAGGGAGGGAGGAGGGAAGGGAG GGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BABAM2_chr2_27885729_28343901	28040294	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	158	0.0063	35	c.496 others(52): Show c.496-5407_496-5406insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112177	C C	CCCTTCCT others(28): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	158	0.0063	35	c.571 others(54): Show c.571-17091_571-17090insTCCTTCCTTCCTTCTCCCTTCCTTCC TTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0100 a0001c0005t0100	a0001c0005t0100g0012 a0001c0005t0100g0012	1	194	0.0052	35	c.-16 others(54): Show c.-161-3183_-161-3182insATATATATATATATATATATTTTTTT TTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0085 a0001c0001t0017g0085	1	194	0.0052	35	c.-16 others(56): Show c.-161-13921_-161-13920insAAAAAAAAAAATATATATATATAT ATATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	35	c.15 others(46): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BBS7_chr4_121819329_121875474	121852712	T T	TATTATTA others(28): Show TATTATTAGTATTAAATTAGTATTAGTATATTATTA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03491.hp1 HG02165.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0063 a0001c0001t0001g0064	2	374	0.0054	35	c.849 others(50): Show c.849+243_849+244insTAATAATATACTAATACTAATTTAATACTA ATAAT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	8/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33536676	G G	GGCCTTCC others(28): Show GGCCTTCCCCCCGCCCCCCGCCTTCCCCCCGCCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02622.hp1 others(5): Show HG01109.hp1 HG01255.hp1 HG02622.hp1 HG02886.hp2 HG02922.hp1 HG03486.hp1 NA19030.hp1 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0004c0022	a0001c0001t0001 a0001c0001t0017 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0017 a0002c0002t0001 a0004c0004t0001 a0004c0022t0001	a0001c0001t0001g0039 a0001c0001t0001g0231 a0001c0001t0001g0239 others(5): Show a0001c0001t0001g0039 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0017g0226 a0002c0002t0001g0130 a0002c0002t0001g0219 a0004c0004t0001g0187 a0004c0022t0001g0185	8	268	0.0299	35	c.252 others(54): Show c.2521+2522_2521+2523insTCCCCCCGCCCCCGCCTTCCCCCCGC CCCCCGCCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536676	G G	GGCCTTCC others(28): Show GGCCTTCCCCGCGCCCCCCGCCTTCCCCCCGCCCCC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	268	0.0037	35	c.252 others(54): Show c.2521+2509_2521+2510insGCGCCCCCCGCCTTCCCCCCGCCCCC GCCTTCCCC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(28): Show ACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	398	0.0025	35	c.194 others(52): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599227	T T	TTATATAT others(28): Show TTATATATATTTATATATAAATATATATAATTTATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp1 HG03130.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0241 a0001c0001t0001g0129 a0001c0001t0001g0241	2	398	0.0050	35	c.481 others(52): Show c.481-1138_481-1137insATATATATATATTTATATATAAATATAT ATAATTT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599227	T T	TTATATAT others(28): Show TTATATATATTTATATATAAATATATATAATTTTTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG00642.hp1 others(110): Show HG00408.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02970.hp1 HG03453.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19089.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(99): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0338 a0001c0001t0002g0233 a0001c0001t0004g0002 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0009g0183 a0001c0001t0010g0131 a0001c0001t0010g0167 a0001c0001t0015g0164 a0001c0001t0016g0247 a0001c0001t0019g0048	113	398	0.2839	35	c.481 others(52): Show c.481-1150_481-1116dupATATATATAATTTTTATATATATATTTA TATATAA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54005303	A A	AAAAACAA others(28): Show AAAAACAAAACAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02273.hp1 NA18983.hp1 others(1): Show HG00408.hp1 HG02273.hp1 NA18983.hp1 NA19086.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0001c0001t0015 a0006c0006t0026 a0001c0001t0002 a0001c0001t0015 a0006c0006t0026	a0001c0001t0002g0174 a0001c0001t0015g0345 a0006c0006t0026g0042 others(1): Show a0001c0001t0002g0174 a0001c0001t0015g0345 a0006c0006t0026g0042 a0006c0006t0026g0059	4	364	0.0110	35	c.724 others(52): Show c.724-9254_724-9253insGTTTTGTTTTGTTTTGTTTTGTTTTGTT TTGTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0030 a0002c0006t0002g0030	1	74	0.0135	35	c.202 others(54): Show c.2029+3574_2029+3575insAAATATATATATATATATATATATAT ATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61191780	A A	AAAAAGAA others(28): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0038 a0002c0003t0001g0038	1	74	0.0135	35	c.242 others(58): Show c.2425+107245_2425+107246insGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24807348	A A	AGAGGATC others(28): Show AGAGGATCGAGATTTTTTATTGTTAGGGTTAGTTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	322	0.0031	35	c.10 others(48): Show c.10659_*10660insCTAACTAACCCTAACAATAAAAAATCTCGATC CTC	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2675		chr12	TogoVar
BCKDHB_chr6_80101671_80351270	80177225	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0101 a0001c0001t0009g0101	1	294	0.0034	35	c.742 others(52): Show c.742+5865_742+5866insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	A A	ACACACAC others(28): Show ACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	458	0.0022	35	c.489 others(52): Show c.489+1064_489+1065insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTG	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1			chr15	TogoVar
BCL2L13_chr22_17633757_17735855	17717380	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0092 a0004c0006t0001g0092	1	306	0.0033	35	c.601 others(52): Show c.601-9291_601-9290insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0285 a0001c0001t0145g0285	1	319	0.0031	35	c.83+ others(50): Show c.83+3839_83+3840insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7			chr3	TogoVar
BHLHA9_chr17_1265444_1276815	1275541	T T	TGTGTGTG others(28): Show TGTGTGTGGGTGAGTGTGTGAGTGTGTGAGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	442	0.0023	35	c.42 others(46): Show c.4270_*4271insGTGTGTGGGTGAGTGTGTGAGTGTGTGAGTGTGT G	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3727		chr17	TogoVar
BIN3_chr8_22615418_22674121	22642101	T T	TTTTTCTT others(28): Show TTTTTCTTTTATTTTCCCTTTTTTTTTTTTATCTTA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	386	0.0026	35	c.57+ others(50): Show c.57+2653_57+2654insTAAGATAAAAAAAAAAAAGGGAAAATAAAA GAAAA	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	2/8			chr8	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0127 a0001c0003t0003g0127	1	274	0.0037	35	c.475 others(54): Show c.4754-2921_4754-2920insATATATATATATATATATATATATTT TTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461068	T T	TTCTCTTC others(28): Show TTCTCTTCTCTTCTCTTCTGTTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	274	0.0037	35	c.475 others(54): Show c.4754-2122_4754-2121insTTCTCTTCTCTTCTGTTCTCCTCTCC TCTCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461068	T T	TTCTCTTC others(28): Show TTCTCTTCTGTTCTCCTCTCCTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0065 a0002c0002t0002g0065	1	274	0.0037	35	c.475 others(54): Show c.4754-2122_4754-2121insTTCTGTTCTCCTCTCCTCTCCTCTCC TCTCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01258.hp2 HG01361.hp1 others(2): Show HG00140.hp1 HG01258.hp2 HG01361.hp1 HG03710.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0199 a0001c0001t0003g0210 others(1): Show a0001c0001t0003g0043 a0001c0001t0003g0199 a0001c0001t0003g0210 a0001c0001t0003g0255	5	404	0.0124	35	c.103 others(54): Show c.1035-1121_1035-1120insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLID_chr11_122110340_122121215	122112071	C C	CAAACAAA others(28): Show CAAACAAAACAAAACAAAACAAAACAAAACAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	434	0.0069	35	c.35 others(46): Show c.3524_*3525insTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT T	BLID	ENSG00000259571.2	transcript	ENST00000560104.2	protein_coding		3268		chr11	TogoVar
BLK_chr8_11489387_11569599	11504367	G G	GAAAGAAA others(28): Show GAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0237 a0001c0004t0004g0237	1	308	0.0033	35	c.-2+ others(50): Show c.-2+9790_-2+9824dupGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	336	0.0030	35	c.109 others(56): Show c.10996-2446_10996-2412dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3A_chr6_34787083_34882514	34846077	T T	TCCCTCCC others(28): Show TCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0081 a0002c0002t0046g0081	1	312	0.0032	35	c.103 others(54): Show c.1034-9537_1034-9503dupCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCC	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0184 a0007c0008t0001g0184	1	188	0.0053	35	c.44+ others(50): Show c.44+1862_44+1863insATATATATATATATATATATATATTTTTTT TTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0056 a0003c0002t0001g0056	1	188	0.0053	35	c.44+ others(50): Show c.44+1862_44+1863insATATATATATATATATATATATATATATTT TTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0093 a0003c0002t0001g0093	1	188	0.0053	35	c.44+ others(50): Show c.44+1862_44+1863insATATATATATATATATATATATATATATAT ATATT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BMAL1_chr11_13272790_13392266	13288394	T T	TTTTCTTT others(28): Show TTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG02559.hp1 others(7): Show HG00280.hp2 HG00621.hp2 HG02559.hp1 HG03492.hp2 HG03710.hp2 HG04115.hp2 NA18612.hp1 NA18957.hp2 NA19070.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 others(7): Show a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0262 a0001c0001t0001g0275 a0001c0001t0001g0284	10	314	0.0319	35	c.-26 others(56): Show c.-263+10485_-263+10486insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	291	0.0034	35	c.106 others(52): Show c.106+9385_106+9386insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA20805.hp1 HG03098.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0273 a0001c0002t0001g0092 a0001c0002t0001g0273	2	291	0.0069	35	c.106 others(52): Show c.106+9391_106+9392insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMPER_chr7_33900539_34161427	34024357	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0028 a0001c0002t0010g0028	1	232	0.0043	35	c.577 others(54): Show c.577-21924_577-21923insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 4618 hits)