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
A3GALT2_chr1_33301766_33326098	33307632	T T	TCACACCA others(20): Show TCACACCACCCAATCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18522.hp1 NA18906.hp2 HG02572.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0161 a0001c0001t0000g0162 a0001c0001t0000g0163 a0001c0001t0000g0161 a0001c0001t0000g0162 a0001c0001t0000g0163	3	418	0.0072	27	c.336 others(42): Show c.336-206_336-180dupGGGTGGGGGTGAGGATTGGGTGGTGTG	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0208 a0002c0002t0003g0208	1	380	0.0026	27	c.535 others(44): Show c.535+9531_535+9532insGTGTGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0005 a0002c0002t0015g0005	1	298	0.0034	27	c.236 others(46): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTTT T	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AARS1_chr16_70247298_70294506	70289756	C C	CCGCCCCC others(20): Show CCGCCCCCCCCCCCGCCCCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	362	0.0028	27	c.-35 others(36): Show c.-358_-357insCGGGGGGGGGGGGCGGGGGGGGGGGCG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		251		chr16	TogoVar
AARS1_chr16_70247298_70294506	70293597	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG01243.hp1 others(7): Show HG00639.hp2 HG01123.hp2 HG01243.hp1 HG01516.hp2 HG02486.hp1 HG02683.hp2 HG02895.hp2 HG03471.hp1 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0057 others(7): Show a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0291 a0001c0001t0002g0312	10	362	0.0276	27	c.-41 others(38): Show c.-4199_-4198insAAAAAAAAAAAAAAAAAAAAAAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		4092		chr16	TogoVar
ABAT_chr16_8669617_8789570	8707353	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp1 HG03540.hp2 HG02717.hp1 HG03225.hp1 HG03540.hp2	a0002 a0002	a0002c0007 a0002c0009 a0002c0015 a0002c0007 a0002c0009 a0002c0015	a0002c0007t0007 a0002c0009t0002 a0002c0015t0005 a0002c0007t0007 a0002c0009t0002 a0002c0015t0005	a0002c0007t0007g0341 a0002c0009t0002g0340 a0002c0015t0005g0310 a0002c0007t0007g0341 a0002c0009t0002g0340 a0002c0015t0005g0310	3	362	0.0083	27	c.-41 others(46): Show c.-41-28329_-41-28328insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18950.hp1 HG02132.hp2 NA18950.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0003 a0002c0004t0001 a0002c0004t0003	a0002c0004t0001g0066 a0002c0004t0003g0172 a0002c0004t0001g0066 a0002c0004t0003g0172	2	362	0.0055	27	c.-41 others(46): Show c.-41-24969_-41-24968insAGAGAGAGAGAGAGGAGAGGGAGGGA G	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8723828	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0271 a0002c0002t0001g0271	1	362	0.0028	27	c.-41 others(46): Show c.-41-11871_-41-11870insATATATATATATATATATATATATAT A	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15			chr16	TogoVar
ABCA10_chr17_69143007_69233824	69210865	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0333 a0007c0008t0007g0333	1	348	0.0029	27	c.100 others(46): Show c.1006+3838_1006+3839insTATATATATATATATATATATATATA T	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989210	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19088.hp2 HG02738.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0023 a0001c0002 a0001c0023	a0001c0002t0024 a0001c0023t0003 a0001c0002t0024 a0001c0023t0003	a0001c0002t0024g0178 a0001c0023t0003g0153 a0001c0002t0024g0178 a0001c0023t0003g0153	2	198	0.0101	27	c.382 others(44): Show c.3829+118_3829+119insATATATATATATATATATATATATATA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215016582	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0091 a0001c0004t0001g0091	1	198	0.0051	27	c.178 others(44): Show c.1783-946_1783-920dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03669.hp1 HG03669.hp2 others(3): Show HG00544.hp1 HG03669.hp1 HG03669.hp2 NA19083.hp2 NA19091.hp2 NA20905.hp2	a0001 a0008 a0017 others(2): Show a0001 a0008 a0017 a0018 a0073	a0001c0103 a0008c0013 a0017c0097 others(2): Show a0001c0103 a0008c0013 a0017c0097 a0018c0029 a0073c0078	a0001c0103t0006 a0008c0013t0005 a0017c0097t0001 others(3): Show a0001c0103t0006 a0008c0013t0005 a0017c0097t0001 a0018c0029t0001 a0018c0029t0004 a0073c0078t0003	a0001c0103t0006g0059 a0008c0013t0005g0045 a0017c0097t0001g0084 others(3): Show a0001c0103t0006g0059 a0008c0013t0005g0045 a0017c0097t0001g0084 a0018c0029t0001g0134 a0018c0029t0004g0070 a0073c0078t0003g0170	6	178	0.0337	27	c.764 others(44): Show c.764-1854_764-1853insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48341833	G G	GATATATA others(20): Show GATATATATATATATATATCTTTCTGAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG02622.hp2 HG02886.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0004 a0007c0011t0007 a0001c0001t0004 a0007c0011t0007	a0001c0001t0004g0164 a0007c0011t0007g0165 a0001c0001t0004g0164 a0007c0011t0007g0165	2	178	0.0112	27	c.102 others(48): Show c.10204+3394_10204+3395insATCTTTCTGATATATATATATATA TAT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	29/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA4_chr1_93987834_94126148	94117007	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0029 a0029	a0029c0056 a0029c0056	a0029c0056t0003 a0029c0056t0003	a0029c0056t0003g0140 a0029c0056t0003g0140	1	306	0.0033	27	c.67- others(42): Show c.67-3942_67-3941insGAAAGAAAGAAAGAAAGAAAGAAAGAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0331 a0001c0004t0003g0331	1	350	0.0029	27	c.931 others(42): Show c.931-880_931-879insATATATATATATATATTTTTTTTTTTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA7_chr19_1035107_1070572	1049481	A A	ACCCCGTG others(20): Show ACCCCGTGAGCTGCCCCCACCACTCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp1 NA19066.hp2 HG02451.hp1 HG02970.hp1 NA19066.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0005 a0007c0021 a0001c0001 a0003c0005 a0007c0021	a0001c0001t0003 a0003c0005t0002 a0007c0021t0001 a0001c0001t0003 a0003c0005t0002 a0007c0021t0001	a0001c0001t0003g0019 a0003c0005t0002g0003 a0007c0021t0001g0001 a0001c0001t0003g0019 a0003c0005t0002g0003 a0007c0021t0001g0001	3	30	0.1000	27	c.255 others(42): Show c.2552+54_2552+55insTGCCCCCACCACTCCCTCCCCGTGAGC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB10_chr1_229511582_229563707	229535038	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0033 a0002c0003t0003g0033	1	284	0.0035	27	c.134 others(46): Show c.1340-3334_1340-3308dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	6/12			chr1	TogoVar
ABCB1_chr7_87498017_87605884	87568242	C C	CAATAATA others(20): Show CAATAATAATAATAATAATAACAATAAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01952.hp2 HG02717.hp2 others(3): Show HG01358.hp1 HG01952.hp2 HG02717.hp2 HG03209.hp2 NA18612.hp2 NA19011.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0003 a0001c0006 a0002c0002 others(2): Show a0001c0003 a0001c0006 a0002c0002 a0009c0030 a0009c0031	a0001c0003t0001 a0001c0006t0001 a0001c0006t0004 others(3): Show a0001c0003t0001 a0001c0006t0001 a0001c0006t0004 a0002c0002t0001 a0009c0030t0001 a0009c0031t0002	a0001c0003t0001g0222 a0001c0006t0001g0104 a0001c0006t0004g0103 others(3): Show a0001c0003t0001g0222 a0001c0006t0001g0104 a0001c0006t0004g0103 a0002c0002t0001g0176 a0009c0030t0001g0242 a0009c0031t0002g0241	6	352	0.0171	27	c.339 others(44): Show c.339-1267_339-1266insATTATTGTTATTATTATTATTATTATT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	5/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87604418	T T	TAATAACA others(20): Show TAATAACACAATATTGTTATTGTGTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0014 a0012c0026t0014	a0012c0026t0014g0010 a0012c0026t0014g0010	1	352	0.0028	27	c.-36 others(38): Show c.-3697_-3671dupGTAACACAATAACAATATTGTGTTATT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding		3535		chr7	TogoVar
ABCB9_chr12_122923992_122971463	122957778	C C	CACTCTGA others(20): Show CACTCTGATGTTTTCTAGTCTATTCTCT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	272	0.0037	27	c.601 others(44): Show c.601+1830_601+1856dupAGAGAATAGACTAGAAAACATCAGAGT	ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	2/11			chr12	TogoVar
ABCC11_chr16_48160773_48252539	48226072	C C	CATTATTA others(20): Show CATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0007 a0010c0012t0007	a0010c0012t0007g0020 a0010c0012t0007g0020	1	158	0.0063	27	c.396 others(44): Show c.396-1644_396-1643insAATAATAATAATAATAATAATAATAAT	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	4/29			chr16	TogoVar
ABCC1_chr16_15944616_16148053	15949611	G G	GCGCCGCC others(20): Show GCGCCGCCGCCGCCGCCGCCGCCGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03516.hp1 NA19068.hp2 HG03130.hp1 HG03516.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0006 a0001c0009t0023 a0001c0001t0006 a0001c0009t0023	a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0009t0023g0145 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0009t0023g0145	3	249	0.0121	27	c.-14 others(36): Show c.-141_-140insCGCCGCCGCCGCCGCCGCCGCCGCCGC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999809	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCCTCTCTCCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0121 a0001c0002t0007g0121	1	249	0.0040	27	c.49- others(42): Show c.49-8007_49-8006insTCTCTCTCTCTCTCTCTCCTCTCTCCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC1_chr16_15944616_16148053	16006847	T T	TGGTGGCG others(20): Show TGGTGGCGGTGCGGGCGGTGGCGGTGGC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0242 a0001c0003t0001g0242	1	249	0.0040	27	c.49- others(40): Show c.49-959_49-958insCGGGCGGTGGCGGTGGCGGTGGCGGTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143530	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0060 a0001c0004t0002g0060	1	249	0.0040	27	c.22 others(38): Show c.2249_*2250insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		478		chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(20): Show CAGAGAGAGAGAGAGAGAGAGAGAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA19066.hp2 NA18963.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0036 a0002c0003 a0001c0036 a0002c0003	a0001c0036t0001 a0002c0003t0001 a0001c0036t0001 a0002c0003t0001	a0001c0036t0001g0234 a0002c0003t0001g0242 a0001c0036t0001g0234 a0002c0003t0001g0242	2	336	0.0060	27	c.-43 others(38): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CTTTCTTT others(20): Show CTTTCTTTCTCTTTCTTTCTTTCTTCTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0151 a0012c0025t0001g0151	1	342	0.0029	27	c.259 others(44): Show c.2599+323_2599+324insTTCTTTCTCTTTCTTTCTTTCTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC9_chr12_21792389_21946426	21915259	G G	GTATATAA others(20): Show GTATATAATGTGTATATGTATGTGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02129.hp2 NA18612.hp2 others(3): Show HG00408.hp2 HG02129.hp2 NA18612.hp2 NA18960.hp1 NA18982.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0040 a0001c0001t0001g0138 a0001c0001t0001g0139 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0017g0143	6	212	0.0283	27	c.816 others(42): Show c.816+408_816+409insTACACACATACATATACACATTATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 NA20905.hp2 HG01433.hp1 HG01433.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0084 a0001c0001t0001g0110 a0001c0001t0006g0210 a0001c0001t0001g0084 a0001c0001t0001g0110 a0001c0001t0006g0210	3	212	0.0142	27	c.816 others(42): Show c.816+153_816+154insAAAAAAAAAAAAATATATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01934.hp2 HG02572.hp1 others(2): Show HG01884.hp1 HG01934.hp2 HG02572.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0011g0068 a0001c0001t0011g0120	5	212	0.0236	27	c.816 others(42): Show c.816+153_816+154insAAAAAAAAAAAAAAATATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp1 HG02809.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0205 a0001c0001t0001g0206	2	212	0.0094	27	c.816 others(42): Show c.816+153_816+154insAAAAAAAAAAAAAAAAATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(20): Show ATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0042 a0001c0006t0001g0042	1	212	0.0047	27	c.816 others(42): Show c.816+153_816+154insAAAAAAAAAAAAAAAAAAATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATTT others(20): Show ATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0191 a0001c0006t0001g0191	1	212	0.0047	27	c.816 others(42): Show c.816+153_816+154insAAAAAAAAAAAAAAAAAAAAAAATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCG2_chr4_88085269_88163639	88147046	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	350	0.0029	27	c.-19 others(44): Show c.-19-7033_-19-7032insCTTTCTTTCTTTCTTTCTTTCTTTCTT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	1/15			chr4	TogoVar
ABHD12B_chr14_50867053_50909970	50870908	C C	CAGAAAGA others(20): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	376	0.0027	27	c.-12 others(38): Show c.-1267_-1266insAGAAAGAAAGAAAGAAAGAAAGAAAGA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1144		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0212 a0001c0002t0003g0212	1	316	0.0032	27	c.422 others(42): Show c.422+943_422+944insAAAAATATATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp2 HG02723.hp2 others(1): Show HG00738.hp2 HG01123.hp2 HG02723.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0002g0153 a0001c0002t0003g0176 a0001c0002t0003g0177 others(1): Show a0001c0002t0002g0153 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0003t0002g0257	4	316	0.0127	27	c.422 others(42): Show c.422+943_422+944insAAAAAAATATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02723.hp1 NA18522.hp2 others(1): Show HG02027.hp1 HG02723.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0003g0215 a0001c0003t0002g0231 a0001c0003t0002g0232 others(1): Show a0001c0002t0003g0215 a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0002g0235	4	316	0.0127	27	c.422 others(42): Show c.422+943_422+944insAAAAAAAAATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTTGTGTG others(20): Show TTTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp1 HG01106.hp1 others(5): Show HG00621.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01243.hp2 HG03490.hp2 HG03669.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 others(5): Show a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0007g0273	8	360	0.0222	27	c.590 others(44): Show c.590+9315_590+9316insTGTGTGTGTGTGTGTGTGTGTGTGTGT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABI1_chr10_26741596_26865958	26773215	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp2 HG01261.hp1 others(14): Show HG00673.hp2 HG01109.hp2 HG01261.hp1 HG02132.hp1 HG02135.hp2 HG03225.hp2 HG03492.hp1 HG04199.hp1 NA18946.hp2 NA18967.hp2 NA18983.hp1 NA18999.hp1 NA19000.hp2 NA19058.hp2 NA19080.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0107 others(14): Show a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0298	17	358	0.0475	27	c.463 others(44): Show c.463-2127_463-2126insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	3/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203385139	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	320	0.0031	27	c.480 others(44): Show c.480+2946_480+2947insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100894938	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02486.hp2 HG02647.hp2 others(4): Show HG00140.hp2 HG02486.hp2 HG02647.hp2 HG02886.hp2 HG02970.hp2 HG03540.hp2 HG03654.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0022 a0002c0008 others(2): Show a0001c0001 a0001c0022 a0002c0008 a0003c0003 a0010c0039	a0001c0001t0007 a0001c0022t0001 a0002c0008t0001 others(3): Show a0001c0001t0007 a0001c0022t0001 a0002c0008t0001 a0003c0003t0007 a0003c0003t0015 a0010c0039t0012	a0001c0001t0007g0134 a0001c0022t0001g0019 a0002c0008t0001g0059 others(4): Show a0001c0001t0007g0134 a0001c0022t0001g0019 a0002c0008t0001g0059 a0002c0008t0001g0098 a0003c0003t0007g0150 a0003c0003t0015g0220 a0010c0039t0012g0151	7	238	0.0294	27	c.461 others(44): Show c.461+3797_461+3823dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABLIM1_chr10_114426112_114663275	114448604	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0003 a0001c0004t0011g0007 a0001c0004t0011g0003 a0001c0004t0011g0007	2	256	0.0078	27	c.159 others(44): Show c.1595-585_1595-584insTAATAATAATAATAATAATAATAATAA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	14/22			chr10	TogoVar
ABRA_chr8_106754483_106775244	106758499	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 NA18940.hp1 HG03453.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0013 a0001c0002t0001g0024 a0001c0001t0005g0013 a0001c0002t0001g0024	2	440	0.0046	27	c.25 others(38): Show c.2537_*2538insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding		983		chr8	TogoVar
ABR_chr17_998519_1184981	1117961	C C	CCCAGCGT others(20): Show CCCAGCGTTATCCCTGAGCCTGAGTCCT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0050 a0001c0001t0009g0050	1	337	0.0030	27	c.246 others(44): Show c.246+7221_246+7222insAGGACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1117986	T T	TCCTCCCA others(20): Show TCCTCCCAGCGTTATCCCTGAGCCTGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0083 a0001c0003t0083	a0001c0003t0083g0285 a0001c0003t0083g0285	1	337	0.0030	27	c.246 others(44): Show c.246+7196_246+7197insCTCAGGCTCAGGGATAACGCTGGGAGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118076	T T	TCCCAGCG others(20): Show TCCCAGCGTTATCCCTGAGCCTGAGTCC	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19060.hp1 HG02155.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0158 a0001c0001t0002g0182 a0001c0001t0001g0158 a0001c0001t0002g0182	2	337	0.0059	27	c.246 others(44): Show c.246+7106_246+7107insGGACTCAGGCTCAGGGATAACGCTGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118478	T T	TCCTCCCA others(20): Show TCCTCCCAGCGTTATCCCTGAGCCTGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02486.hp1 others(15): Show HG01243.hp2 HG02055.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0043 a0001c0001t0066 a0001c0001t0091 a0001c0003t0016 a0001c0003t0052	a0001c0001t0001g0133 a0001c0001t0003g0121 a0001c0001t0003g0237 others(15): Show a0001c0001t0001g0133 a0001c0001t0003g0121 a0001c0001t0003g0237 a0001c0001t0007g0280 a0001c0001t0007g0281 a0001c0001t0009g0032 a0001c0001t0014g0097 a0001c0001t0017g0113 a0001c0001t0017g0225 a0001c0001t0018g0111 a0001c0001t0021g0284 a0001c0001t0028g0122 a0001c0001t0029g0116 a0001c0001t0043g0008 a0001c0001t0066g0236 a0001c0001t0091g0286 a0001c0003t0016g0163 a0001c0003t0052g0220	18	337	0.0534	27	c.246 others(44): Show c.246+6704_246+6705insCTCAGGCTCAGGGATAACGCTGGGAGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119289	C C	CCCAGCGT others(20): Show CCCAGCGTTATCCCTGAGCCTGAGTCCT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	337	0.0030	27	c.246 others(44): Show c.246+5893_246+5894insAGGACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34292414	C C	CTGTGAAG others(20): Show CTGTGAAGATGGCAGCCTTCACAGACCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	246	0.0041	27	c.883 others(46): Show c.883+64260_883+64286dupTGGTCTGTGAAGGCTGCCATCTTCAC A	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar

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Search Results (Total: 7463 hits)