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
IFTAP_chr11_36589502_36664272	36661259	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01081.hp2 others(26): Show HG00099.hp1 HG00099.hp2 HG01081.hp2 HG01106.hp1 HG01884.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02129.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02818.hp2 HG03098.hp2 HG03139.hp2 HG03486.hp2 HG03579.hp1 HG03831.hp1 NA18522.hp2 NA18948.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18998.hp1 NA19010.hp2 NA19078.hp2 NA19083.hp1 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(23): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0234 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0237 a0001c0002t0003g0209	29	358	0.0810	44	c.20 others(55): Show c.2073_*2074insATATATATATATATATATATATATATATATATAT ATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IFTAP_chr11_36589502_36664272	36661270	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG03139.hp1 HG02647.hp1 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0031 a0001c0001t0002g0218 a0001c0001t0002g0219	3	358	0.0084	44	c.20 others(55): Show c.2084_*2085insTATATATATATATATATATATATATATATATATA TATATATATG	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1999		chr11	TogoVar
IGF1R_chr15_98643539_98969530	98835107	A A	ACACCCCT others(37): Show ACACCCCTACACCCACACACACCCACCCCTACACCCACACACACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0023 a0001c0006t0023	a0001c0006t0023g0058 a0001c0006t0023g0058	1	210	0.0048	44	c.641 others(63): Show c.641-56198_641-56155dupACCCACCCCTACACCCACACACACCC ACCCCTACACCCACACAC	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1_chr12_102390874_102485563	102415543	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCGTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0113 a0001c0001t0029g0113	1	360	0.0028	44	c.402 others(61): Show c.402+3965_402+3966insGGAAGGAAGGAAGGACGGAAGGAAGGAA GGAAGGAAGGAAGGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102415543	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCGTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00642.hp1 others(18): Show HG00408.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG01346.hp1 HG01433.hp1 HG01516.hp1 HG01928.hp1 HG02027.hp1 HG02056.hp1 HG02280.hp1 HG03491.hp2 NA18959.hp1 NA18967.hp1 NA18977.hp1 NA18978.hp2 NA19054.hp2 NA19055.hp1 NA19074.hp2 NA19076.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0069	a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0091 others(18): Show a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0158 a0001c0001t0002g0030 a0001c0001t0002g0071 a0001c0001t0002g0152 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0175 a0001c0001t0006g0262 a0001c0001t0006g0264 a0001c0001t0006g0266 a0001c0001t0012g0039 a0001c0001t0014g0085 a0001c0001t0014g0176 a0001c0001t0027g0097 a0001c0001t0031g0106 a0001c0001t0031g0265 a0001c0001t0032g0135 a0001c0001t0069g0259	21	360	0.0583	44	c.402 others(61): Show c.402+3965_402+3966insGGAAGGAAGGACGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102415543	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCGTCCTTCC	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18967.hp2 NA19068.hp2 others(1): Show HG02132.hp1 NA18967.hp2 NA19068.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0021 a0001c0001t0065 a0001c0001t0011 a0001c0001t0021 a0001c0001t0065	a0001c0001t0011g0005 a0001c0001t0011g0346 a0001c0001t0021g0345 others(1): Show a0001c0001t0011g0005 a0001c0001t0011g0346 a0001c0001t0021g0345 a0001c0001t0065g0349	4	360	0.0111	44	c.402 others(61): Show c.402+3965_402+3966insGGAAGGACGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01123.hp2 HG01257.hp2 others(11): Show HG00673.hp1 HG01123.hp2 HG01257.hp2 HG01346.hp1 HG02258.hp1 HG03239.hp1 NA18949.hp1 NA18959.hp1 NA18980.hp2 NA19054.hp2 NA19065.hp2 NA19066.hp2 NA19077.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0027 a0001c0001t0074	a0001c0001t0001g0061 a0001c0001t0001g0088 a0001c0001t0001g0123 others(11): Show a0001c0001t0001g0061 a0001c0001t0001g0088 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0006g0258 a0001c0001t0006g0262 a0001c0001t0011g0351 a0001c0001t0013g0165 a0001c0001t0015g0148 a0001c0001t0021g0350 a0001c0001t0027g0097 a0001c0001t0074g0066	14	360	0.0389	44	c.221 others(61): Show c.221-8547_221-8546insTATATATATATATATATATATATATATA TATATATATATATATA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2R_chr6_159964082_160116504	160090919	A A	AGGTGCTC others(37): Show AGGTGCTCTGTGCCCTGGTGCTGAGCGCATCGCTGAGAAGGAGCG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0081 a0001c0004t0081	a0001c0004t0081g0112 a0001c0004t0081g0112	1	310	0.0032	44	c.665 others(61): Show c.6655+823_6655+824insTGTGCCCTGGTGCTGAGCGCATCGCTGA GAAGGAGCGGGTGCTC	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	44/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160091156	A A	ACATCGCC others(37): Show ACATCGCCGAGAAGGAGCAGGTGCTCCGTGCCCTGGTGCTGAGCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp2 HG02965.hp1 HG03453.hp2	a0001 a0001	a0001c0046 a0001c0069 a0001c0046 a0001c0069	a0001c0046t0054 a0001c0069t0052 a0001c0046t0054 a0001c0069t0052	a0001c0046t0054g0281 a0001c0069t0052g0164 a0001c0046t0054g0281 a0001c0069t0052g0164	2	310	0.0065	44	c.665 others(63): Show c.6655+1211_6655+1254dupCGTGCCCTGGTGCTGAGCGCATCGCC GAGAAGGAGCAGGTGCTC	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	44/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2_chr11_2124117_2144389	2127274	T T	TGAGTGGA others(37): Show TGAGTGGATGGATGAGTGGAGGGATGGGTGGAGGGATGGGTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18970.hp1 NA18969.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0002 a0001c0001t0016g0063 a0001c0001t0002g0002 a0001c0001t0016g0063	2	388	0.0052	44	c.57 others(55): Show c.5712_*5713insCTCCACCCATCCCTCCACCCATCCCTCCACTCAT CCATCCACTC	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		1842		chr11	TogoVar
IGLON5_chr19_51306644_51335891	51322403	C C	CCCAGAGA others(37): Show CCCAGAGAGAAGGGGACAGAGATCCAGAGAGAAGGGGACAGAGAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03516.hp2 HG02083.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0058 a0001c0001t0001 a0001c0001t0058	a0001c0001t0001g0270 a0001c0001t0058g0287 a0001c0001t0001g0270 a0001c0001t0058g0287	2	418	0.0048	44	c.158 others(59): Show c.158+310_158+353dupAGAGAAGGGGACAGAGATCCAGAGAGAAGG GGACAGAGATCCAG	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IGSF21_chr1_18102798_18383483	18208376	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	248	0.0040	44	c.71- others(61): Show c.71-19502_71-19501insATATATATATATATATATATATATATAT ATATATATATATATAT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18256710	T T	TTACATAT others(37): Show TTACATATAGACTAAAAAATAAGAAAAAAATAAAAATAGAAATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	248	0.0040	44	c.183 others(63): Show c.183+28703_183+28704insATATAGACTAAAAAATAAGAAAAAAA TAAAAATAGAAATAATAC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18359362	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0217	1	248	0.0040	44	c.425 others(61): Show c.425-2753_425-2752insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAA	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	4/9			chr1	TogoVar
IGSF21_chr1_18102798_18383483	18359366	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	248	0.0040	44	c.425 others(61): Show c.425-2749_425-2748insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAA	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	4/9			chr1	TogoVar
IGSF21_chr1_18102798_18383483	18359370	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG02451.hp1 others(3): Show HG00642.hp2 HG01243.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0001c0001t0001 a0001c0001t0003 a0001c0005t0003	a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0085 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0003g0147 a0001c0005t0003g0172	6	248	0.0242	44	c.425 others(61): Show c.425-2745_425-2744insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAA	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	4/9			chr1	TogoVar
IGSF21_chr1_18102798_18383483	18372826	A A	ATGGATGG others(37): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	248	0.0040	44	c.101 others(63): Show c.1016-3445_1016-3444insATGGGTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGG	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IHH_chr2_219049424_219065921	219062428	A A	AAAAAGAA others(37): Show AAAAAGAAAGAAAAAAAACTCAAAAGAGGCTAACTACCTGAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	398	0.0025	44	c.-19 others(55): Show c.-1962_-1961insGTATTCAGGTAGTTAGCCTCTTTTGAGTTTTTTT TCTTTCTTTT	IHH	ENSG00000163501.7	transcript	ENST00000295731.7	protein_coding		1508		chr2	TogoVar
IKZF3_chr17_39752718_39869312	39811235	T T	TGAAAGAA others(37): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0146 a0001c0001t0007g0146	1	256	0.0039	44	c.163 others(63): Show c.163+18151_163+18152insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	3/7			chr17	TogoVar
IKZF3_chr17_39752718_39869312	39850052	T T	TATATTAT others(37): Show TATATTATATATGTATATATACTATATGTATATATACTATATAGC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03486.hp1 NA18939.hp2 others(1): Show HG02165.hp1 HG03486.hp1 NA18939.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0045 a0001c0002t0004 a0001c0001t0045 a0001c0002t0004	a0001c0001t0045g0244 a0001c0002t0004g0006 a0001c0002t0004g0210 a0001c0001t0045g0244 a0001c0002t0004g0006 a0001c0002t0004g0210	4	256	0.0156	44	c.7+1 others(59): Show c.7+14067_7+14068insGCTATATAGTATATATACATATAGTATATA TACATATATAATAT	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7			chr17	TogoVar
IL17RA_chr22_17080000_17120693	17094665	C C	CTATATAT others(37): Show CTATATATATATATATATATGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03710.hp2 HG01256.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0095 a0002c0003t0051 a0001c0006t0095 a0002c0003t0051	a0001c0006t0095g0316 a0002c0003t0051g0317 a0001c0006t0095g0316 a0002c0003t0051g0317	2	416	0.0048	44	c.139 others(61): Show c.139-2396_139-2395insATATATATATATATATATGTGTATATAT ATATATATATATATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RA_chr22_17080000_17120693	17094691	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0023 a0003c0002t0005g0023	1	416	0.0024	44	c.139 others(61): Show c.139-2370_139-2369insCTCTCTCTCTCTATATATATATATATAT ATATATATATATATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RA_chr22_17080000_17120693	17094691	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0162 a0007c0012t0002g0162	1	416	0.0024	44	c.139 others(61): Show c.139-2370_139-2369insCTCTCTCTCTCTCTCTCTCTCTATATAT ATATATATATATATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RD_chr3_57084982_57170353	57105552	A A	AAAAAAAA others(37): Show AAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0073 a0002c0003t0012g0073	1	354	0.0028	44	c.747 others(59): Show c.747+304_747+305insATATATATATATATATATATATATATATAT ATATATTTTTTTTT	IL17RD	ENSG00000144730.19	transcript	ENST00000296318.12	protein_coding	7/12			chr3	TogoVar
IL1RAPL2_chrX_104561199_105772829	105315578	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	141	0.0071	44	c.697 others(63): Show c.697+48060_697+48061insATATATATATATATATATATATATAT ATATATATATATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL21R_chr16_27397174_27457042	27440248	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0013 a0001c0001t0021g0013	1	372	0.0027	44	c.352 others(61): Show c.352+2562_352+2563insTATATATATATATATATATATATATATA GAGAGAGAGAGAGAGA	IL21R	ENSG00000103522.17	transcript	ENST00000337929.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL2RA_chr10_6005689_6067367	6051817	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18941.hp2 NA18963.hp1 others(2): Show HG03225.hp1 NA18941.hp2 NA18963.hp1 NA18971.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0023 a0001c0001t0001 a0001c0001t0003 a0001c0003t0023	a0001c0001t0001g0096 a0001c0001t0001g0380 a0001c0001t0003g0143 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0380 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0003t0023g0241	5	414	0.0121	44	c.64+ others(61): Show c.64+10270_64+10271insTATATATATATATATATATATATATATA TATATATATATATATA	IL2RA	ENSG00000134460.19	transcript	ENST00000379959.8	protein_coding	1/7			chr10	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0306 a0003c0004t0008g0306	1	322	0.0031	44	c.852 others(59): Show c.852+572_852+573insAAAAAAAAAAAATATATATATATATATATA TATATATATATATA	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19089.hp2 HG03831.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0084 a0002c0002t0034 a0002c0002t0084	a0002c0002t0034g0042 a0002c0002t0084g0015 a0002c0002t0034g0042 a0002c0002t0084g0015	2	322	0.0062	44	c.852 others(59): Show c.852+587_852+588insATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0020 a0002c0002t0005g0020	1	322	0.0031	44	c.852 others(59): Show c.852+587_852+588insATATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(37): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18984.hp1 HG03492.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0083 a0002c0002t0001g0069 a0002c0002t0001g0083	2	322	0.0062	44	c.852 others(59): Show c.852+587_852+588insATATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(37): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0036 a0001c0005t0018g0036	1	322	0.0031	44	c.852 others(59): Show c.852+587_852+588insATATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL3RA_chrX_1331785_1387689	1360854	C C	CCTGTCTC others(37): Show CCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0032 a0001c0001t0003g0083 a0001c0001t0001g0032 a0001c0001t0003g0083	2	115	0.0174	44	c.759 others(61): Show c.759+1993_759+1994insCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1361088	T T	TCTGTCTC others(37): Show TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	115	0.0087	44	c.759 others(61): Show c.759+2203_759+2204insGTCTCTCTCTCCCTTCCCCTCTCTGTCT CTCTCTCCCTTCCCCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1363733	A A	AATTTCAG others(37): Show AATTTCAGACAGGCTCTCACTCTGTCACCCACGCTAGAGTGCAGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0115 a0002c0002t0005g0115	1	115	0.0087	44	c.760 others(61): Show c.760-1404_760-1361dupATTTCAGACAGGCTCTCACTCTGTCACC CACGCTAGAGTGCAGT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL4R_chr16_27308974_27369778	27336694	A A	AAAGGAAA others(37): Show AAAGGAAAGGGAGGAAGGGAAGGTCCCTCCAGGTGGAGGGGACAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0009 a0009	a0009c0037 a0009c0037	a0009c0037t0002 a0009c0037t0002	a0009c0037t0002g0050 a0009c0037t0002g0050	1	332	0.0030	44	c.-18 others(61): Show c.-18-3490_-18-3447dupAGGAAAGGGAGGAAGGGAAGGTCCCTCC AGGTGGAGGGGACAGA	IL4R	ENSG00000077238.14	transcript	ENST00000395762.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL6_chr7_22722200_22736998	22732254	G G	GTGTATAT others(37): Show GTGTATATATAGTATATATAGTATATATAGTATATATACTATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01099.hp1 others(6): Show HG00280.hp2 HG00323.hp1 HG01099.hp1 HG01175.hp2 HG01516.hp2 HG01993.hp2 HG02683.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	9	418	0.0215	44	c.68 others(53): Show c.681_*682insTGTATATATAGTATATATAGTATATATAGTATATAT ACTATGTA	IL6	ENSG00000136244.12	transcript	ENST00000258743.10	protein_coding		257		chr7	TogoVar
ILRUN_chr6_34582288_34701767	34687714	T T	TATATATA others(37): Show TATATATATATATATATTTATAAAATATATATATATATTTATAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19240.hp2 HG02970.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0308 a0001c0002t0009g0309 a0001c0002t0009g0308 a0001c0002t0009g0309	2	316	0.0063	44	c.158 others(61): Show c.158+8731_158+8732insTTTATAAATATATATATATATTTTATAA ATATATATATATATAT	ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4			chr6	TogoVar
IMMP2L_chr7_110657644_111567492	111164384	G G	GGGACCCA others(37): Show GGGACCCATTCACAGGACATGTTGTGAGGAAGCACTGGGTCACTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp2 HG03225.hp1 others(1): Show HG02809.hp2 HG02886.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008	a0001c0001t0004g0043 a0001c0001t0006g0042 a0001c0001t0008g0079 others(1): Show a0001c0001t0004g0043 a0001c0001t0006g0042 a0001c0001t0008g0079 a0001c0001t0008g0080	4	84	0.0476	44	c.240 others(65): Show c.240-200863_240-200820dupTAGTGACCCAGTGCTTCCTCACAA CATGTCCTGTGAATGGGTCC	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5			chr7	TogoVar
IMPG1_chr6_75916114_76077662	75924756	C C	CATATAAT others(37): Show CATATAATTATATATTATATATAATATAATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp2 others(29): Show HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG01928.hp1 HG02027.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02257.hp1 HG02293.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG03098.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp1 NA18965.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp1 NA19006.hp1 NA19043.hp1 NA19068.hp1 NA19083.hp2 NA19240.hp2	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0001c0016 a0002c0002 others(1): Show a0001c0001 a0001c0016 a0002c0002 a0022c0023	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0016t0005 a0002c0002t0001 a0002c0002t0005 a0022c0023t0001	a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0031 others(29): Show a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0134 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0275 a0001c0001t0001g0296 a0001c0001t0005g0011 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0160 a0001c0001t0005g0221 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0010g0003 a0001c0016t0005g0015 a0001c0016t0005g0016 a0002c0002t0001g0072 a0002c0002t0005g0080 a0022c0023t0001g0131	32	302	0.1060	44	c.224 others(63): Show c.2244-1051_2244-1050insTATATATTATATATAATTATATTATA TATAATATATAATTATAT	IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	15/16			chr6	TogoVar
INAFM1_chr19_47269885_47280723	47271689	C C	CTGTGTGT others(37): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	394	0.0025	44	c.-32 others(55): Show c.-3231_-3230insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG	INAFM1	ENSG00000257704.4	transcript	ENST00000552360.4	protein_coding		3195		chr19	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	424	0.0024	44	c.42 others(55): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTCTATATATATATATA TATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	424	0.0024	44	c.42 others(55): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA TATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	424	0.0024	44	c.42 others(55): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA TATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INA_chr10_103272138_103295346	103278903	G G	GCACACAC others(37): Show GCACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	418	0.0024	44	c.106 others(61): Show c.1065+658_1065+659insACACACACACACACACACACACACACAC ACACACACACACACAC	INA	ENSG00000148798.11	transcript	ENST00000369849.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP4B_chr4_142018160_142851301	142692930	G G	GATAGATA others(37): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0058 a0002c0004t0001g0058	1	90	0.0111	44	c.-19 others(65): Show c.-191+32908_-191+32909insGTATCTATCTATCTATCTATCTAT CTATCTATCTATCTATCTAT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP5A_chr10_132532787_132788480	132670191	C C	CCTGACCC others(37): Show CCTGACCCCACACCCCCTGACCCCACACCCCTGACCCCACACCCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	204	0.0049	44	c.306 others(63): Show c.306+19696_306+19697insACCCCCTGACCCCACACCCCTGACCC CACACCCTCTGACCCCAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775042	G G	GGCAGGGA others(37): Show GGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	204	0.0049	44	c.978 others(61): Show c.978-2628_978-2627insCAGGGAGGAGAAACGGGCAGGGAGGAGA GAGGGGCAGGGAGGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02976.hp2 NA18522.hp1 HG00621.hp2 HG02976.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0025 a0001c0001t0001g0088 a0002c0002t0003g0318 a0001c0001t0001g0025 a0001c0001t0001g0088 a0002c0002t0003g0318	3	346	0.0087	44	c.281 others(61): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0087 a0009c0016t0001g0087	1	346	0.0029	44	c.281 others(61): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar

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Search Results (Total: 4475 hits)