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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GABRG3_chr15_26966181_27546984	27309121	T T	TATAATGT others(26): Show TATAATGTAAACATAGATGTTTATATAGAAACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01884.hp1 others(11): Show HG01070.hp1 HG01071.hp2 HG01884.hp1 HG02145.hp1 HG02145.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG06807.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0002t0026 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0026 a0001c0003t0019 a0001c0003t0032 a0001c0005t0005 a0001c0008t0008 a0001c0009t0002 a0001c0009t0010 a0001c0011t0018	a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0076 others(11): Show a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0004g0007 a0001c0002t0026g0070 a0001c0003t0019g0064 a0001c0003t0032g0040 a0001c0005t0005g0037 a0001c0005t0005g0045 a0001c0008t0008g0001 a0001c0009t0002g0089 a0001c0009t0010g0051 a0001c0011t0018g0004	14	92	0.1522	33	c.271 others(52): Show c.271-17684_271-17652dupATGTAAACATAGATGTTTATATAGAA ACACATA		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GADL1_chr3_30721197_30899661	30740998	T T	TTAATATA others(26): Show TTAATATATATTATATATTATATAATATATTATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	282	0.0036	33	c.139 others(54): Show c.1393-12616_1393-12584dupTATAATATATTATATAATATATAA TATATATTA		GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14						chr3	TogoVar
GAK_chr4_844277_937316	887195	T T	TCGCGCAC others(26): Show TCGCGCACTCACGCGTACACATGCACGCGGCTCA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0001 a0014c0032t0001	a0014c0032t0001g0052 a0014c0032t0001g0052	1	390	0.0026	33	c.120 others(52): Show c.1205+1619_1205+1651dupTGAGCCGCGTGCATGTGTACGCGTGA GTGCGCG		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	11/27						chr4	TogoVar
GAK_chr4_844277_937316	887208	C C	CGTACACA others(26): Show CGTACACATGCACGCGGCTCACGCGCACTCACGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0248 a0001c0005t0002g0248	1	390	0.0026	33	c.120 others(52): Show c.1205+1606_1205+1638dupACGTGAGTGCGCGTGAGCCGCGTGCA TGTGTAC		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	11/27						chr4	TogoVar
GAL3ST1_chr22_30549635_30579665	30577475	T T	TGTTGTGT others(26): Show TGTTGTGTTGTGTGTGTTGTGTGTGTGTGTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	452	0.0022	33	c.-31 others(44): Show c.-3130_-3129insCCACACACACACACACAACACACACAACACAAC		GAL3ST1	ENSG00000128242.13	transcript	ENST00000406361.6	protein_coding					2811		chr22	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0042	1	348	0.0029	33	c.267 others(50): Show c.267-7163_267-7162insATATATATATATATATATATATATACAT ATATT		GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38686227	T T	TCCTTCCT others(26): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04204.hp2 NA19086.hp2 others(1): Show HG03831.hp1 HG04204.hp2 NA19086.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0148 a0001c0001t0001g0178 a0001c0001t0001g0197 others(1): Show a0001c0001t0001g0148 a0001c0001t0001g0178 a0001c0001t0001g0197 a0001c0001t0006g0176	4	328	0.0122	33	c.553 others(50): Show c.553-3585_553-3584insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC		GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38686231	T T	TCCTTCCT others(26): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(12): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG02083.hp1 HG02135.hp1 NA18612.hp1 NA18948.hp2 NA18951.hp1 NA18973.hp1 NA18986.hp2 NA18991.hp1 NA19005.hp2 NA19007.hp1 NA19056.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0031	a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 others(12): Show a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0253 a0001c0001t0011g0252 a0001c0001t0031g0256	15	328	0.0457	33	c.553 others(50): Show c.553-3581_553-3580insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC		GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38686244	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0227 a0001c0001t0013g0227	1	328	0.0031	33	c.553 others(50): Show c.553-3567_553-3535dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT		GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703092	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0280 a0002c0002t0001g0280	1	328	0.0031	33	c.634 others(52): Show c.634+13199_634+13200insATATATATATATATATATATATATAT ATATATT		GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNS_chr16_88808734_88861947	88834643	C C	CGCGTGGT others(26): Show CGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp2 others(21): Show HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp2 HG01109.hp1 HG01192.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp2 HG02148.hp2 HG02257.hp2 HG02602.hp2 HG02735.hp1 NA18966.hp1 NA18979.hp2 NA18993.hp2 NA19057.hp2 NA19060.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp2 NA19083.hp2 NA19088.hp2	a0001 a0011 a0001 a0011	a0001c0002 a0001c0004 a0001c0018 others(1): Show a0001c0002 a0001c0004 a0001c0018 a0011c0019	a0001c0002t0002 a0001c0004t0001 a0001c0018t0002 others(1): Show a0001c0002t0002 a0001c0004t0001 a0001c0018t0002 a0011c0019t0002	a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0072 others(21): Show a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0072 a0001c0002t0002g0077 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0120 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0134 a0001c0002t0002g0144 a0001c0002t0002g0168 a0001c0002t0002g0182 a0001c0002t0002g0206 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0046 a0001c0004t0001g0056 a0001c0004t0001g0241 a0001c0018t0002g0095 a0011c0019t0002g0086	24	404	0.0594	33	c.898 others(48): Show c.898+569_898+570insCGGGGGGCCCTGCAGCCTCTTCCCAGACCA CGC		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13						chr16	TogoVar
GALNT17_chr7_71127144_71718599	71265118	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	76	0.0132	33	c.239 others(52): Show c.239-70431_239-70430insATATATATATATATATATTTTTTTTT TTTTTTT		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71319096	A A	ATTCTTTC others(26): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	76	0.0132	33	c.239 others(52): Show c.239-16453_239-16452insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT9_chr12_132191372_132334589	132304814	C C	CCCTCACC others(26): Show CCCTCACCCGGGCACACCCCTCACCCAGACACAG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0116 a0001c0011t0001g0116	1	183	0.0055	33	c.239 others(52): Show c.239-18385_239-18384insCTGTGTCTGGGTGAGGGGTGTGCCCG GGTGAGG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GALNTL6_chr4_171808404_173046559	171940305	A A	AGGGGATG others(26): Show AGGGGATGCAAATAAGAATGTTGTATTCTTATTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp2 HG02451.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0017 a0001c0001t0001g0023	2	40	0.0500	33	c.138 others(54): Show c.138+125608_138+125640dupTGTATTCTTATTTGGGGATGCAAA TAAGAATGT		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172069488	C C	CACATATA others(26): Show CACATATAACATATATGTTATATGTATGACACAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0038 a0001c0004t0002g0038	1	40	0.0250	33	c.139 others(54): Show c.139-160167_139-160166insCATATAACATATATGTTATATGTA TGACACATA		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77281091	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0261 a0001c0001t0010g0261	1	366	0.0027	33	c.12 others(46): Show c.12189_*12190insTATATATATATATATATATATATATATATATA T		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding					3192		chr18	TogoVar
GAP43_chr3_115618510_115726483	115698287	A A	AATATATA others(26): Show AATATATATATATTATATATAAAATAAATATAAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	352	0.0028	33	c.628 others(52): Show c.628+21687_628+21688insATTATATATAAAATAAATATAATATA TATATAT		GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698287	A A	AATATATA others(26): Show AATATATATATATTATATATAAAATATATATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01258.hp1 others(8): Show HG00140.hp2 HG00741.hp2 HG01258.hp1 HG03239.hp1 NA18962.hp2 NA18980.hp2 NA19084.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0043 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0191 a0001c0001t0001g0291 a0001c0001t0002g0048 a0001c0001t0003g0027 a0001c0001t0003g0196 a0001c0001t0016g0269	11	352	0.0313	33	c.628 others(52): Show c.628+21687_628+21688insATTATATATAAAATATATATAATATA TATATAT		GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698287	A A	AATATATA others(26): Show AATATATATATATTATATATAAAATATATATTAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	352	0.0028	33	c.628 others(52): Show c.628+21687_628+21688insATTATATATAAAATATATATTATATA TATATAT		GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698287	A A	AATATATA others(26): Show AATATATATATTATATATAAAATATATATAATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18943.hp2 NA18975.hp1 NA18522.hp1 NA18943.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0001g0268 a0001c0001t0002g0171 a0001c0001t0001g0082 a0001c0001t0001g0268 a0001c0001t0002g0171	3	352	0.0085	33	c.628 others(52): Show c.628+21687_628+21719dupTTATATATAAAATATATATAATATAT ATATATA		GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
GAPDH_chr12_6529517_6543371	6532069	C C	CTGTCCCG others(26): Show CTGTCCCGGGATGGCAGATGAGCTTCCTGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	456	0.0022	33	c.-25 others(44): Show c.-2524_-2523insTGTCCCGGGATGGCAGATGAGCTTCCTGCCCCG		GAPDH	ENSG00000111640.15	transcript	ENST00000229239.10	protein_coding					2447		chr12	TogoVar
GAPVD1_chr9_125256826_125372207	125293866	A A	AAAATATA others(26): Show AAAATATATTTTATATATATATATAAATATATTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp1 HG01109.hp2 HG03098.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0011 a0002c0006t0011	a0002c0006t0011g0121 a0002c0006t0011g0122 a0002c0006t0011g0121 a0002c0006t0011g0122	2	340	0.0059	33	c.-14 others(52): Show c.-149-1592_-149-1591insAAATATATTTTATATATATATATAAA TATATTT		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27						chr9	TogoVar
GAREM1_chr18_32258522_32475882	32364026	A A	ATATATAT others(26): Show ATATATATATATATATATGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0149 a0002c0006t0004g0149	1	192	0.0052	33	c.262 others(52): Show c.262+28868_262+28869insAAAAAAAAAAAAAAACATATATATAT ATATATA		GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5						chr18	TogoVar
GAREM1_chr18_32258522_32475882	32364027	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	192	0.0052	33	c.262 others(52): Show c.262+28867_262+28868insCATATATATATATATATATATATATA TATATAT		GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5						chr18	TogoVar
GARNL3_chr9_127259774_127398660	127331720	C C	CTTGCTTT others(26): Show CTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	300	0.0033	33	c.595 others(48): Show c.595-552_595-551insGCTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	7/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GAS2L3_chr12_100568684_100633288	100600497	C C	CCACTTTG others(26): Show CCACTTTGTTGCCCATGCAAGAAGATCTGTCAAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18956.hp2 NA18956.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0015 a0005c0009t0015	a0005c0009t0015g0050 a0005c0009t0015g0050	1	402	0.0025	33	c.136 others(40): Show c.136_168dupACTTTGTTGCCCATGCAAGAAGATCTGTCAATC	p.Thr others(11): Show p.Thr46_Ile56dup	GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding	4/10	422/5736	169/2085	57/694		INFO_REALIGN_3_PRIME	chr12	TogoVar
GAS7_chr17_9905606_10203606	10159063	A A	ACATATAT others(26): Show ACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02976.hp1 HG01993.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0035 a0001c0001t0005 a0001c0003t0035	a0001c0001t0005g0060 a0001c0003t0035g0011 a0001c0001t0005g0060 a0001c0003t0035g0011	2	218	0.0092	33	c.183 others(52): Show c.183+39144_183+39145insATATATATATATATATATATATATAT ATATATG		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GASK1B_chr4_158119474_158178025	158149923	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0047 a0001c0002t0025g0047	1	292	0.0034	33	c.112 others(52): Show c.1125+5687_1125+5688insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding	3/4						chr4	TogoVar
GASK1B_chr4_158119474_158178025	158177851	A A	AAAATCAT others(26): Show AAAATCATGGAAAAAACTTAAAACAGTAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	292	0.0034	33	c.-52 others(44): Show c.-5209_-5208insATTTTTTACTGTTTTAAGTTTTTTCCATGATTT		GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding					4827		chr4	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00609.hp1 others(12): Show HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG01433.hp2 HG02071.hp2 HG02523.hp2 HG02735.hp1 NA18747.hp1 NA18953.hp1 NA18965.hp2 NA18993.hp2 NA19059.hp2 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0003c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0019 a0001c0003t0002 a0001c0004t0005 a0001c0008t0002 a0001c0008t0004 a0003c0017t0011 a0003c0017t0035	a0001c0001t0001g0272 a0001c0002t0001g0025 a0001c0002t0001g0079 others(10): Show a0001c0001t0001g0272 a0001c0002t0001g0025 a0001c0002t0001g0079 a0001c0002t0002g0119 a0001c0002t0002g0195 a0001c0002t0006g0024 a0001c0002t0019g0118 a0001c0003t0002g0058 a0001c0004t0005g0271 a0001c0008t0002g0197 a0001c0008t0004g0196 a0003c0017t0011g0050 a0003c0017t0035g0051	15	382	0.0393	33	c.699 others(50): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6						chr20	TogoVar
GATA5_chr20_62458497_62480995	62476886	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	382	0.0026	33	c.-97 others(42): Show c.-979_-978insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					892		chr20	TogoVar
GATD1_chr11_762222_782487	763204	G G	GCCCCCGC others(26): Show GCCCCCGCCCTCACCTGCCCCCGCCCTCACCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	430	0.0023	33	c.76 others(44): Show c.7692_*7693insGCAGGTGAGGGCGGGGGCAGGTGAGGGCGGGGG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					4017		chr11	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCCCGC others(26): Show CCCCCCGCCCTCACCCGCCCCCGCCCTCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0041 a0001c0003t0004g0041	1	430	0.0023	33	c.76 others(44): Show c.7660_*7661insATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					3985		chr11	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCCGCC others(26): Show CCCCCGCCCTCACCCGCCCCCCGCCCTCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0034 a0001c0001t0019g0034	1	430	0.0023	33	c.76 others(44): Show c.7660_*7661insATGGGTGAGGGCGGGGGGCGGGTGAGGGCGGGG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					3985		chr11	TogoVar
GBGT1_chr9_133147948_133168914	133163746	A A	AGACTACT others(26): Show AGACTACTTACTCCTTACTCTTACTACTCTGCCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	446	0.0022	33	c.-12 others(46): Show c.-121+7_-121+8insGGGCAGAGTAGTAAGAGTAAGGAGTAAGTAGT C		GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding	1/6						chr9	TogoVar
GCA_chr2_162339132_162368123	162345131	G G	GGTGGTGG others(26): Show GGTGGTGGTGGTGGTGGTGGTGGTGGTTGTGGTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18991.hp1 NA18998.hp2 HG01943.hp1 NA18991.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0047 a0001c0001t0003g0142 a0001c0001t0002g0047 a0001c0001t0003g0142	3	366	0.0082	33	c.27+ others(46): Show c.27+861_27+862insGGTGGTGGTGGTGGTGGTGGTTGTGGTTGTGG T		GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
GCGR_chr17_81799150_81819008	81818813	G G	GATAGTGA others(26): Show GATAGTGACTTGTGTGTGCACGCCACTACACAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03471.hp1 HG03540.hp1 HG03130.hp1 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	408	0.0074	33	c.51 others(44): Show c.5124_*5125insATAGTGACTTGTGTGTGCACGCCACTACACAGC		GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding					4806		chr17	TogoVar
GCK_chr7_44139275_44194439	44174915	T T	TCTTCTTC others(26): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02486.hp1 HG03130.hp1 others(1): Show HG00544.hp1 HG02486.hp1 HG03130.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0037 a0001c0001t0002g0289 a0001c0001t0004g0311 others(1): Show a0001c0001t0002g0037 a0001c0001t0002g0289 a0001c0001t0004g0311 a0001c0001t0006g0030	4	392	0.0102	33	c.45+ others(50): Show c.45+13993_45+13994insGAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAG		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCNT3_chr15_59606783_59627723	59610977	C C	CCCCTCCC others(26): Show CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0042 a0002c0004t0042	a0002c0004t0042g0053 a0002c0004t0042g0053	1	428	0.0023	33	c.-12 others(44): Show c.-1255_-1254insCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCT		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					805		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610998	C C	CCCCCTCC others(26): Show CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	428	0.0023	33	c.-12 others(44): Show c.-1234_-1233insCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					784		chr15	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0031 a0002c0004t0002g0031	1	354	0.0028	33	c.21 others(44): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding					1277		chr16	TogoVar
GEMIN4_chr17_739421_757264	743378	A A	ATTTTTTC others(26): Show ATTTTTTCCCCCTTTCATCTCACACATTAAACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0002 a0003c0002t0002g0002	1	434	0.0023	33	c.14 others(44): Show c.1487_*1488insATGTTTAATGTGTGAGATGAAAGGGGGAAAAAA		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding					1042		chr17	TogoVar
GEMIN4_chr17_739421_757264	749003	C C	CAGCAATC others(26): Show CAGCAATCACACGGCCACAGGATAATGGGCACAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	434	0.0023	33	c.11- others(46): Show c.11-972_11-971insCTGTGCCCATTATCCTGTGGCCGTGTGATTGC T		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding	1/1						chr17	TogoVar
GEMIN4_chr17_739421_757264	749123	A A	ATAATGGG others(26): Show ATAATGGGCACAGAGCAATCACACTGCCACAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0019 a0019	a0019c0046 a0019c0046	a0019c0046t0001 a0019c0046t0001	a0019c0046t0001g0071 a0019c0046t0001g0071	1	434	0.0023	33	c.11- others(48): Show c.11-1092_11-1091insCCCTGTGGCAGTGTGATTGCTCTGTGCCCA TTA		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding	1/1						chr17	TogoVar
GEMIN4_chr17_739421_757264	749189	G G	GTAATGGG others(26): Show GTAATGGGCACAGAGCAATCACACGGCCACAGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03130.hp1 HG03195.hp2 others(1): Show HG02818.hp2 HG03130.hp1 HG03195.hp2 NA19043.hp1	a0007 a0007	a0007c0010 a0007c0016 a0007c0010 a0007c0016	a0007c0010t0001 a0007c0016t0001 a0007c0010t0001 a0007c0016t0001	a0007c0010t0001g0039 a0007c0016t0001g0038 a0007c0010t0001g0039 a0007c0016t0001g0038	4	434	0.0092	33	c.11- others(48): Show c.11-1190_11-1158dupTCCTGTGGCCGTGTGATTGCTCTGTGCCCA TTA		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding	1/1						chr17	TogoVar
GET4_chr7_871554_901436	897667	A A	AGGGGTGC others(26): Show AGGGGTGCTGGGGGGCACCTGGGGAAGGGGTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG02896.hp2 HG01243.hp2 HG02717.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0014 a0001c0006t0002 a0001c0001t0014 a0001c0006t0002	a0001c0001t0014g0054 a0001c0001t0014g0055 a0001c0006t0002g0276 a0001c0001t0014g0054 a0001c0001t0014g0055 a0001c0006t0002g0276	3	384	0.0078	33	c.22 others(44): Show c.2245_*2246insGGGGTGCTGGGGGGCACCTGGGGAAGGGGTGCT		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					1232		chr7	TogoVar
GFM1_chr3_158639527_158700581	158649332	T T	TGAGAGAC others(26): Show TGAGAGACTAAATAAATTTATTTATTTAGTCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	372	0.0027	33	c.689 others(48): Show c.689+175_689+176insGAGAGACTAAATAAATTTATTTATTTAGTC CCC		GFM1	ENSG00000168827.15	transcript	ENST00000486715.6	protein_coding	5/17						chr3	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0361 a0001c0003t0002g0361	1	412	0.0024	33	c.41 others(44): Show c.4105_*4106insATATATATATATATTTTTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0013 a0001c0004t0002g0013	1	412	0.0024	33	c.41 others(44): Show c.4105_*4106insATATATATATATATATTTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar

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Search Results (Total: 4928 hits)