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
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0011 a0002c0002t0004g0011	1	268	0.0037	37	c.-38 others(48): Show c.-3878_-3877insTATATATATATATATATATATATATATATATTTT TTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	268	0.0037	37	c.-38 others(48): Show c.-3878_-3877insTATATATATATATATATATATATATATATTTTTT TTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 NA18970.hp1 HG02300.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0224 a0002c0002t0004g0081 a0001c0001t0001g0224 a0002c0002t0004g0081	2	268	0.0075	37	c.-38 others(48): Show c.-3878_-3877insTATATATATATATATATATATATATATTTTTTTT TTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0234 a0002c0002t0002g0234	1	268	0.0037	37	c.-38 others(48): Show c.-3878_-3877insTATATATATATATATATATATATTTTTTTTTTTT TTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	268	0.0037	37	c.-38 others(48): Show c.-3878_-3877insTATATATATATATATATATATTTTTTTTTTTTTT TTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(30): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0229 a0002c0002t0003g0229	1	268	0.0037	37	c.-38 others(48): Show c.-3878_-3877insTATATATATATATATATTTTTTTTTTTTTTTTTT TTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18952.hp2 NA19070.hp1 others(1): Show NA18947.hp1 NA18952.hp2 NA19070.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0004g0120 a0001c0001t0006g0049 a0001c0001t0006g0169 others(1): Show a0001c0001t0004g0120 a0001c0001t0006g0049 a0001c0001t0006g0169 a0001c0001t0010g0110	4	268	0.0149	37	c.106 others(56): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14			chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82972057	T T	TAGAAGGA others(30): Show TAGAAGGACCTGGTACTGACCACACCACACCATGGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp2 HG01081.hp2 others(16): Show HG00408.hp1 HG01074.hp2 HG01081.hp2 HG01243.hp2 HG02559.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18980.hp2 NA19000.hp2 NA19010.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0012 a0002c0005 a0002c0009 a0002c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0002t0001 a0001c0003t0015 a0001c0003t0034 a0001c0007t0004 a0001c0007t0005 a0001c0011t0017 a0001c0011t0030 a0001c0012t0002 a0002c0005t0007 a0002c0009t0003 a0002c0010t0007	a0001c0001t0002g0178 a0001c0001t0004g0247 a0001c0001t0004g0257 others(15): Show a0001c0001t0002g0178 a0001c0001t0004g0247 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0014g0248 a0001c0001t0017g0177 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0003t0015g0221 a0001c0003t0034g0197 a0001c0007t0004g0241 a0001c0007t0005g0254 a0001c0011t0017g0145 a0001c0011t0030g0143 a0001c0012t0002g0079 a0002c0005t0007g0005 a0002c0009t0003g0090 a0002c0010t0007g0205	19	266	0.0714	37	c.460 others(54): Show c.460-6312_460-6311insGGCCCATGGTGTGGTGTGGTCAGTACCA GGTCCTTCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972719	T T	TGCCGACC others(30): Show TGCCGACCACACCACACCACGGGCCAGAAGGACCTGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0012 a0001c0011t0012	a0001c0011t0012g0142 a0001c0011t0012g0142	1	266	0.0038	37	c.460 others(54): Show c.460-6974_460-6973insTCCAGGTCCTTCTGGCCCGTGGTGTGGT GTGGTCGGC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83008040	A A	AGAGGAGG others(30): Show AGAGGAGGCGCAGGGAAGAGGCACGCTCTCAAGAGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00741.hp2 others(8): Show HG00408.hp1 HG00438.hp1 HG00741.hp2 HG01361.hp1 HG01516.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 a0001c0001t0006 a0001c0001t0032 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0032 a0001c0002t0002 a0001c0014t0001 a0002c0005t0003 a0002c0009t0003 a0002c0009t0013	a0001c0001t0002g0058 a0001c0001t0006g0153 a0001c0001t0006g0159 others(8): Show a0001c0001t0002g0058 a0001c0001t0006g0153 a0001c0001t0006g0159 a0001c0001t0032g0162 a0001c0002t0002g0086 a0001c0002t0002g0095 a0001c0014t0001g0012 a0002c0005t0003g0056 a0002c0005t0003g0057 a0002c0009t0003g0090 a0002c0009t0013g0087	11	266	0.0414	37	c.364 others(54): Show c.364-2867_364-2831dupCTCCTCTTGAGAGCGTGCCTCTTCCCTG CGCCTCCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	5/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83047791	C C	CCCTACCA others(30): Show CCCTACCAAAGAATAAGAAACTTAGGTCTATAATAAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG00735.hp2 others(33): Show HG00558.hp1 HG00673.hp2 HG00735.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG02015.hp1 HG02027.hp1 HG02155.hp2 HG02280.hp2 HG02486.hp1 HG02818.hp1 HG02922.hp2 HG03017.hp2 HG03195.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG04115.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18947.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18967.hp1 NA18980.hp1 NA18986.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19070.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0020 a0002c0010 a0004c0019 a0006c0018	a0001c0001t0002 a0001c0003t0004 a0001c0003t0005 others(15): Show a0001c0001t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0014 a0001c0003t0015 a0001c0003t0020 a0001c0003t0021 a0001c0003t0034 a0001c0008t0004 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0008t0038 a0001c0020t0005 a0002c0010t0007 a0004c0019t0004 a0006c0018t0005	a0001c0001t0002g0133 a0001c0003t0004g0190 a0001c0003t0004g0201 others(32): Show a0001c0001t0002g0133 a0001c0003t0004g0190 a0001c0003t0004g0201 a0001c0003t0004g0217 a0001c0003t0005g0225 a0001c0003t0009g0202 a0001c0003t0009g0204 a0001c0003t0009g0209 a0001c0003t0009g0210 a0001c0003t0009g0211 a0001c0003t0009g0220 a0001c0003t0014g0194 a0001c0003t0015g0221 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0021g0219 a0001c0003t0034g0197 a0001c0008t0004g0214 a0001c0008t0005g0191 a0001c0008t0005g0192 a0001c0008t0005g0203 a0001c0008t0005g0208 a0001c0008t0005g0226 a0001c0008t0014g0195 a0001c0008t0014g0212 a0001c0008t0021g0213 a0001c0008t0038g0215 a0001c0020t0005g0218 a0002c0010t0007g0004 a0002c0010t0007g0205 a0002c0010t0007g0206 a0002c0010t0007g0207 a0002c0010t0007g0216 a0004c0019t0004g0193 a0006c0018t0005g0196	36	266	0.1353	37	c.232 others(52): Show c.232+643_232+679dupATTTATTATAGACCTAAGTTTCTTATTCTT TGGTAGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	480454	A A	ACATTACG others(30): Show ACATTACGGAAGGCTTGACGGCCTGGTTCCTGAGGTCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp2 HG02630.hp1 HG03098.hp2	a0001 a0006 a0001 a0006	a0001c0016 a0006c0023 a0001c0016 a0006c0023	a0001c0016t0088 a0006c0023t0002 a0001c0016t0088 a0006c0023t0002	a0001c0016t0088g0229 a0006c0023t0002g0230 a0001c0016t0088g0229 a0006c0023t0002g0230	2	394	0.0051	37	c.169 others(56): Show c.169+19910_169+19911insATTACGGAAGGCTTGACGGCCTGGTT CCTGAGGTCCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	484721	G G	GGCAGGAC others(30): Show GGCAGGACAAGTCAGGAAATGAGAAAAGAAACAGAGAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0003 a0006c0045t0003	a0006c0045t0003g0392 a0006c0045t0003g0392	1	394	0.0025	37	c.169 others(56): Show c.169+24196_169+24197insAGAAAAGAAACAGAGAAGCAGGACAA GTCAGGAAATG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	370026	C C	CGGGGGGC others(30): Show CGGGGGGCGCGGGCGGCGCGGGGGGCGCGGGCGGCGCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0153 a0002c0002t0006g0153	1	184	0.0054	37	c.151 others(50): Show c.151+93_151+94insGGGCGCGGGCGGCGCGGGGGGGCGCGGGCGGC GCGGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0119 a0001c0002t0119	a0001c0002t0119g0114 a0001c0002t0119g0114	1	194	0.0052	37	c.-16 others(56): Show c.-161-3183_-161-3182insATATATATATATATATATATTTTTTT TTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0109 a0001c0003t0109	a0001c0003t0109g0056 a0001c0003t0109g0056	1	194	0.0052	37	c.-16 others(56): Show c.-161-3183_-161-3182insATATATATATATATATATATATTTTT TTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0030 a0002c0007t0030	a0002c0007t0030g0001 a0002c0007t0030g0001	1	194	0.0052	37	c.-16 others(58): Show c.-161-13921_-161-13920insAAAAAAAAAAAAATATATATATAT ATATATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	298	0.0034	37	c.128 others(54): Show c.128-1893_128-1892insATATATATATATATATATATATATATAT ATTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAMBI_chr10_28672521_28687932	28686800	A A	ATGCTCCA others(30): Show ATGCTCCAGATACCAACATTTATAATAGAAAAATTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	436	0.0023	37	c.43 others(48): Show c.4399_*4400insTGCTCCAGATACCAACATTTATAATAGAAAAATT GAC	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		3869		chr10	TogoVar
BANP_chr16_87946434_88082316	87994004	A A	ACGTTAGA others(30): Show ACGTTAGAGACCAGGATGCGGTGTTTGGAGGGCCCTGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp2 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0007 a0001c0020t0007	a0001c0020t0007g0141 a0001c0020t0007g0147 a0001c0020t0007g0141 a0001c0020t0007g0147	2	352	0.0057	37	c.362 others(54): Show c.362+9783_362+9819dupCGTTAGAGACCAGGATGCGGTGTTTGGA GGGCCCTGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BARX2_chr11_129370848_129457279	129450783	C C	CTGCTTGC others(30): Show CTGCTTGCTACAAATATTATTGTTGTCTTTTTAGCTTG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18960.hp1 NA18982.hp2 others(2): Show NA18942.hp1 NA18960.hp1 NA18982.hp2 NA19009.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0112 a0001c0002t0002g0161 others(1): Show a0001c0002t0002g0008 a0001c0002t0002g0112 a0001c0002t0002g0161 a0001c0002t0002g0167	5	400	0.0125	37	c.574 others(52): Show c.574-351_574-315dupGCTTGCTACAAATATTATTGTTGTCTTTTT AGCTTGT	BARX2	ENSG00000043039.7	transcript	ENST00000281437.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS2_chr16_56479385_56525024	56480366	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	398	0.0025	37	c.43 others(48): Show c.4394_*4395insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4018		chr16	TogoVar
BBS2_chr16_56479385_56525024	56492038	A A	AAATTTTT others(30): Show AAATTTTTAATGATTAAATATTAAAAATTTAAATTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0265	1	398	0.0025	37	c.191 others(56): Show c.1910+4892_1910+4928dupAAAAATTTAAATTTTTAATATTTAAT CATTAAAAATT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	15/16			chr16	TogoVar
BBS4_chr15_72681207_72743473	72726059	C C	CTTCCCAT others(30): Show CTTCCCATTTCCACTTCTCTTCTTCTTTTCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0207	1	398	0.0025	37	c.587 others(54): Show c.587+1404_587+1405insTTCCCATTTCCACTTCTCTTCTTCTTTT CTTCTTTCT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15			chr15	TogoVar
BBS9_chr7_33124564_33611069	33536681	T T	TCCCCCCG others(30): Show TCCCCCCGCCCCCCGCCTTCCCCCCGCCCCCCACCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	268	0.0037	37	c.252 others(56): Show c.2521+2522_2521+2523insTCCCCCCGCCCCCCACCTCCCCCCCC GCCCCCCGCCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536681	T T	TCCCCCCG others(30): Show TCCCCCCGCCCCCCGCCTTCCCCCCGCCCCCCGCCTCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01884.hp1 others(4): Show HG01106.hp2 HG01109.hp2 HG01884.hp1 HG02486.hp1 HG02738.hp1 HG02897.hp1 HG02897.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0018 a0001c0001 a0002c0002 a0012c0018	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0019 a0012c0018t0001	a0001c0001t0001g0114 a0001c0001t0001g0156 a0001c0001t0009g0214 others(4): Show a0001c0001t0001g0114 a0001c0001t0001g0156 a0001c0001t0009g0214 a0002c0002t0001g0195 a0002c0002t0002g0188 a0002c0002t0019g0043 a0012c0018t0001g0127	7	268	0.0261	37	c.252 others(56): Show c.2521+2522_2521+2523insTCCCCCCGCCCCCCGCCTCCCCCCCC GCCCCCCGCCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536681	T T	TCCCCCCG others(30): Show TCCCCCCGCCCCCTGCCTTCCCCCCGCCCCCCGCCTAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01934.hp2 NA19082.hp1 HG01175.hp2 HG01934.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0079 a0001c0001t0001g0174 a0001c0001t0008g0232 a0001c0001t0001g0079 a0001c0001t0001g0174 a0001c0001t0008g0232	3	268	0.0112	37	c.252 others(56): Show c.2521+2517_2521+2518insTGCCTTCCCCCCGCCCCCCGCCTACC CCCCCGCCCCC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107584092	A A	ATATTATA others(30): Show ATATTATATATATCATATATTATATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	222	0.0045	37	c.-84 others(56): Show c.-84+57706_-84+57707insCATATATTATATATAATATATATATT ATTATATATAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107584119	A A	AATATATA others(30): Show AATATATATATTATTATATATATTATATATAATATATG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02486.hp2 HG03831.hp1 others(3): Show HG01981.hp1 HG02486.hp2 HG03831.hp1 NA18975.hp1 NA19043.hp2 NA19058.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0033 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0061 a0001c0001t0001g0111 a0006c0010t0001g0159	6	222	0.0270	37	c.-84 others(56): Show c.-84+57793_-84+57829dupATGATATATATATTATTATATATATT ATATATAATAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAP29_chr7_107575246_107625478	107599260	T T	TTATATAT others(30): Show TTATATATATATTTATATATAAATATATATAATTTTTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp2 HG02976.hp1 others(6): Show HG02055.hp2 HG02886.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0236 a0001c0001t0001g0237 others(6): Show a0001c0001t0001g0037 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244	9	398	0.0226	37	c.481 others(54): Show c.481-1116_481-1115insATATATATAATTTTTATATATATATATT TATATATAA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS4_chr20_50790061_50882177	50806113	T T	TAAATGGA others(30): Show TAAATGGAGGTGGCATCTCACTGGGAGTGACCCAGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	270	0.0037	37	c.90+ others(54): Show c.90+10942_90+10978dupAATGGAGGTGGCATCTCACTGGGAGTGA CCCAGAGAA	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	458	0.0022	37	c.-43 others(48): Show c.-4377_-4376insAAATATATATATATATATATATATATATATATAT ATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0126 a0002c0002t0013g0126	1	458	0.0022	37	c.-43 others(48): Show c.-4377_-4376insAAAAAAAAATATATATATATATATATATATATAT ATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	458	0.0022	37	c.-43 others(48): Show c.-4377_-4376insAAAAAAAAAAATATATATATATATATATATATAT ATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117103	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATTTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	458	0.0022	37	c.-43 others(48): Show c.-4378_-4377insTATATAAATATATATATATATATATATATATATA TAT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4329		chr15	TogoVar
BEST4_chr1_44778585_44793170	44792668	A A	AAGTCCCT others(30): Show AAGTCCCTAACCTTACCTGGCATCTCTTGTTCTTGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	390	0.0026	37	c.-49 others(48): Show c.-4964_-4963insGGTCAAGAACAAGAGATGCCAGGTAAGGTTAGGG ACT	BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding		4499		chr1	TogoVar
BICC1_chr10_58507872_58836435	58621953	A A	ACAACAGA others(30): Show ACAACAGAACAGAACAACAGAACAGAACAACAGAACAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp2 HG01256.hp1 others(9): Show HG00741.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG02257.hp2 HG02572.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG04115.hp1 NA18972.hp2 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0022 a0002c0002t0004 a0002c0002t0008 a0002c0002t0011 a0003c0004t0044 a0004c0005t0030	a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0002g0041 others(9): Show a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0002g0041 a0001c0001t0003g0059 a0001c0001t0021g0045 a0001c0001t0022g0001 a0002c0002t0004g0031 a0002c0002t0008g0060 a0002c0002t0011g0082 a0002c0002t0011g0091 a0003c0004t0044g0112 a0004c0005t0030g0009	12	132	0.0909	37	c.237 others(54): Show c.237+1052_237+1053insCAACAGAACAGAACAACAGAACAGAACA ACAGAACAG	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	2/20			chr10	TogoVar
BIRC6_chr2_32352023_32623878	32461144	T T	TCTCCTCC others(30): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	274	0.0037	37	c.475 others(56): Show c.4754-2049_4754-2048insTCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCC	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(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	404	0.0025	37	c.103 others(56): Show c.1035-1121_1035-1120insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLM_chr15_90712346_90821166	90755895	A A	AGCGACGT others(30): Show AGCGACGTCTGCATGCATGTGCGGGTCATGTGTGTAGT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	280	0.0036	37	c.108 others(54): Show c.1087+959_1087+995dupCGACGTCTGCATGCATGTGCGGGTCATG TGTGTAGTG	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0035 a0003c0002t0001g0035	1	188	0.0053	37	c.44+ others(52): Show c.44+1862_44+1863insATATATATATATATATATATATATATTTTT TTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BMAL2_chr12_27327836_27430286	27392549	A A	AGAATGTG others(30): Show AGAATGTGGTATGTTTTACTGTTAGGCTTTAACCAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG01169.hp1 others(28): Show HG00438.hp1 HG00609.hp1 HG01169.hp1 HG02080.hp1 HG02257.hp2 HG02280.hp2 HG02572.hp2 HG03239.hp1 HG03453.hp1 HG03516.hp2 HG03831.hp2 HG03834.hp2 NA18939.hp2 NA18942.hp1 NA18952.hp1 NA18959.hp1 NA18961.hp1 NA18968.hp1 NA18970.hp1 NA18988.hp1 NA18989.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19055.hp2 NA19064.hp2 NA19078.hp1 NA19082.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 others(3): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0021 a0001c0001t0023 a0001c0001t0029	a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0019 others(28): Show a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0019 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0004g0058 a0001c0001t0004g0065 a0001c0001t0004g0070 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0102 a0001c0001t0004g0111 a0001c0001t0004g0126 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0192 a0001c0001t0004g0294 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0234 a0001c0001t0009g0236 a0001c0001t0014g0213 a0001c0001t0014g0216 a0001c0001t0014g0217 a0001c0001t0021g0025 a0001c0001t0021g0096 a0001c0001t0023g0054 a0001c0001t0023g0057 a0001c0001t0029g0152	31	310	0.1000	37	c.919 others(54): Show c.919+2312_919+2348dupAATGTGGTATGTTTTACTGTTAGGCTTT AACCAGAGG	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0161 a0001c0002t0002g0161	1	308	0.0033	37	c.665 others(56): Show c.665-32031_665-32030insAAAAAAAAATATATATATATATATAT ATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMPER_chr7_33900539_34161427	34129622	G G	GAAGAGAG others(30): Show GAAGAGAGAGAGAGAGAAAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0172 a0001c0003t0001g0172	1	232	0.0043	37	c.174 others(58): Show c.1746-13607_1746-13606insAGAGAGAGAGAGAGAAAGAGAGAA AGAAAGAAAGAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BPNT2_chr8_56952931_56998867	56992452	A A	AATCCAAA others(30): Show AATCCAAAATGTCTGGATTTCCTTAAGAAAATGTCAAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	356	0.0028	37	c.387 others(52): Show c.387+710_387+746dupGTTGACATTTTCTTAAGGAAATCCAGACAT TTTGGAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/4			chr8	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	364	0.0028	37	c.748 others(54): Show c.748-1912_748-1911insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRCA1_chr17_43039295_43130364	43100558	G G	GTATATAT others(30): Show GTATATATATATAACATATATATAACATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0004 a0013c0019t0004	a0013c0019t0004g0272 a0013c0019t0004g0272	1	276	0.0036	37	c.442 others(52): Show c.442-679_442-678insATATATATATATGTTATATATATGTTATAT ATATATA	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100622	T T	TATATATA others(30): Show TATATATATATTATATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0164 a0003c0010t0002g0164	1	276	0.0036	37	c.442 others(52): Show c.442-743_442-742insGTTATATATATGTTATATATATATATAATA TATATAT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRINP1_chr9_119161629_119374435	119249853	A A	AGGAAGGA others(30): Show AGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0201 a0001c0005t0001g0201	1	236	0.0042	37	c.219 others(52): Show c.219-704_219-703insCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCC	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119249853	A A	AGGAAGGA others(30): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0199 a0001c0005t0001g0199	1	236	0.0042	37	c.219 others(52): Show c.219-704_219-703insCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCC	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar

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Search Results (Total: 3614 hits)