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
LRRIQ1_chr12_85031351_85250105	85192910	C C	CATAAATA others(24): Show CATAAATATATAATTATATAATATAATTATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01169.hp2 others(2): Show HG00140.hp1 HG01070.hp2 HG01169.hp2 HG03516.hp1 NA19030.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0005 a0007c0010 a0008c0012 a0001c0005 a0007c0010 a0008c0012	a0001c0005t0001 a0007c0010t0001 a0008c0012t0001 a0001c0005t0001 a0007c0010t0001 a0008c0012t0001	a0001c0005t0001g0154 a0007c0010t0001g0029 a0007c0010t0001g0030 others(2): Show a0001c0005t0001g0154 a0007c0010t0001g0029 a0007c0010t0001g0030 a0007c0010t0001g0031 a0008c0012t0001g0007	5	228	0.0219	31	c.482 others(52): Show c.4822+32254_4822+32284dupTATATATAAATATATAATTATATA ATATAAT		LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	24/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRN1_chr3_3794431_3854834	3834525	G G	GACATATA others(24): Show GACATATATATATCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0171 a0001c0003t0001g0171	1	422	0.0024	31	c.-27 others(50): Show c.-278-9838_-278-9837insCATATATATATCATATATATATATAT ATATA		LRRN1	ENSG00000175928.6	transcript	ENST00000319331.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRTM3_chr10_66921036_67106551	66978552	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18953.hp1 HG00735.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0205 a0001c0001t0002g0210 a0001c0001t0001g0205 a0001c0001t0002g0210	2	294	0.0068	31	c.153 others(52): Show c.1536+50101_1536+50102insAAAAATATATATATATATATATAT ATATATA		LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRTM4_chr2_76742685_77527376	77306897	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	128	0.0078	31	c.155 others(54): Show c.1551+211420_1551+211421insAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
LRRTM4_chr2_76742685_77527376	77403885	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp1 HG03579.hp2 HG03098.hp1 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0121 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0121	3	128	0.0234	31	c.155 others(54): Show c.1551+114432_1551+114433insTATATATATATATATATATATA TATATATAT		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
LSM6_chr4_146170718_146196535	146172196	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	376	0.0027	31	c.-36 others(42): Show c.-3626_-3625insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC		LSM6	ENSG00000164167.12	transcript	ENST00000296581.11	protein_coding					3521		chr4	TogoVar
LSR_chr19_35244002_35272964	35251843	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01981.hp2 HG02055.hp1 others(7): Show HG01516.hp1 HG01981.hp2 HG02055.hp1 HG02145.hp2 HG02572.hp2 HG02897.hp2 HG02970.hp2 HG03209.hp1 NA18955.hp1 NA18956.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0001 a0003c0003t0001 a0001c0002t0001 a0003c0003t0001	a0001c0002t0001g0043 a0003c0003t0001g0049 a0003c0003t0001g0132 others(5): Show a0001c0002t0001g0043 a0003c0003t0001g0049 a0003c0003t0001g0132 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164	10	438	0.0228	31	c.454 others(48): Show c.454+1193_454+1194insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		LSR	ENSG00000105699.17	transcript	ENST00000605618.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP1_chr2_32941953_33404509	33078862	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0030 a0001c0043t0030	a0001c0043t0030g0042 a0001c0043t0030g0042	1	164	0.0061	31	c.864 others(50): Show c.864-31705_864-31704insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP2_chr14_74493183_74617237	74604164	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	282	0.0036	31	c.495 others(46): Show c.495-460_495-459insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	1/35						chr14	TogoVar
LTBP4_chr19_40596369_40634818	40625316	A A	ATTTATAT others(24): Show ATTTATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03540.hp2 HG02897.hp2 HG03540.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0245 a0005c0016t0001g0284 a0005c0016t0001g0245 a0005c0016t0001g0284	2	338	0.0059	31	c.383 others(48): Show c.3833-538_3833-537insATATATATATATATATATATATATATTT TTT		LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP4_chr19_40596369_40634818	40625316	A A	ATTTATAT others(24): Show ATTTATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	338	0.0030	31	c.383 others(48): Show c.3833-538_3833-537insATATATATATATATATATATATATTTTT TTT		LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr19	TogoVar
LTN1_chr21_28923144_28997877	28927499	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0307 a0006c0008t0001g0307	1	404	0.0025	31	c.29 others(42): Show c.2948_*2949insATATATATATATATATATATATATATATATA		LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding					644		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0276 a0001c0004t0001g0276	1	404	0.0025	31	c.29 others(42): Show c.2946_*2947insAAAAAAATATATATATATATATATATATATA		LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding					642		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 NA19010.hp2 NA19062.hp1 others(1): Show HG00423.hp1 NA19010.hp2 NA19062.hp1 NA19090.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0007 a0001c0004t0001 a0001c0004t0007	a0001c0004t0001g0017 a0001c0004t0001g0295 a0001c0004t0001g0298 others(1): Show a0001c0004t0001g0017 a0001c0004t0001g0295 a0001c0004t0001g0298 a0001c0004t0007g0264	4	404	0.0099	31	c.29 others(42): Show c.2946_*2947insAAAAAAAAATATATATATATATATATATATA		LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding					642		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0296 a0001c0004t0001g0296	1	404	0.0025	31	c.29 others(42): Show c.2946_*2947insAAAAAAAAAAATATATATATATATATATATA		LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding					642		chr21	TogoVar
LUC7L3_chr17_50714603_50761219	50730513	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0201 a0001c0001t0009g0201	1	392	0.0026	31	c.100 others(48): Show c.100-6422_100-6421insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		LUC7L3	ENSG00000108848.16	transcript	ENST00000505658.6	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
LURAP1L_chr9_12770020_12828060	12807094	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	418	0.0024	31	c.313 others(50): Show c.313-14291_313-14290insATATATATATATATATATATATATAT ATATA		LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr9	TogoVar
LUZP2_chr11_24492053_25087638	24774791	A A	ATATATAT others(24): Show ATATATATGTAGAATATATATAGACTATATTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19043.hp2 HG03471.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0084 a0002c0002t0001g0045 a0001c0001t0003g0084 a0002c0002t0001g0045	2	116	0.0172	31	c.396 others(50): Show c.396+11504_396+11505insGACTATATTCTATATATGTAGAATAT ATATA		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
LYPD6B_chr2_149033699_149220262	149120383	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	264	0.0038	31	c.-66 others(50): Show c.-66-10499_-66-10498insATATATATATATATATATATATTTTT TTTTT		LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD6B_chr2_149033699_149220262	149120383	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	264	0.0038	31	c.-66 others(50): Show c.-66-10499_-66-10498insATATATATATATATATATTTTTTTTT TTTTT		LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD6B_chr2_149033699_149220262	149120383	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	264	0.0038	31	c.-66 others(50): Show c.-66-10499_-66-10498insATATATATATATATATTTTTTTTTTT TTTTT		LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD8_chr1_248734415_248760759	248746221	C C	CATAAACG others(24): Show CATAAACGAAAGTTCTTTGGGGTCCTCAATAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	374	0.0027	31	c.338 others(46): Show c.338-973_338-943dupTTATTGAGGACCCCAAAGAACTTTCGTTTA T		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248746616	C C	CCCCGCAC others(24): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0025 a0002c0002t0003g0025	2	374	0.0054	31	c.338 others(48): Show c.338-1368_338-1338dupCGATGCCCTGGGTGGGTGCTGGCCGTGC GGG		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747090	G G	GCCCGCAC others(24): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	374	0.0027	31	c.337 others(48): Show c.337+1198_337+1199insGGATGCCCTGGGTGGGTGCTGGCCGTGC GGG		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747276	C C	CCCCGCAC others(24): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0121 a0002c0002t0003g0121	1	374	0.0027	31	c.337 others(48): Show c.337+1012_337+1013insCGATGCCCTGGGTGGGTGCTGGCCGTGC GGG		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747307	C C	CCCCGCAC others(24): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01884.hp2 others(16): Show HG00735.hp1 HG00741.hp1 HG01884.hp2 HG02258.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp1 HG03486.hp1 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0023 a0002c0002t0003g0024 others(9): Show a0002c0002t0003g0008 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0093 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0125 a0002c0002t0003g0127 a0002c0002t0003g0131 a0002c0002t0003g0138	19	374	0.0508	31	c.337 others(46): Show c.337+951_337+981dupCGATGCCCTGGGTGGGTGCTGGCCGTGCGG G		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747369	C C	CCCCGCAC others(24): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19030.hp1 NA19240.hp2 HG02630.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0003 a0001c0001t0005 a0002c0002t0003	a0001c0001t0005g0079 a0002c0002t0003g0270 a0002c0002t0003g0271 a0001c0001t0005g0079 a0002c0002t0003g0270 a0002c0002t0003g0271	3	374	0.0080	31	c.337 others(46): Show c.337+889_337+919dupCGATGCCCTGGGTGGGTGCTGGCCGTGCGG G		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747493	C C	CCCCGCAC others(24): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0152 a0004c0004t0001g0152	1	374	0.0027	31	c.337 others(46): Show c.337+765_337+795dupCGATGCCCTGGGTGGGTGCTGGCCGTGCGG G		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747555	C C	CCCCGCAC others(24): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0273 a0001c0001t0008g0273	1	374	0.0027	31	c.337 others(46): Show c.337+703_337+733dupCGATGCCCTGGGTGGGTGCTGGCCGTGCGG G		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747648	G G	GCCCACAC others(24): Show GCCCACACGGCCAGCACCCACCCAGGGCATCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	374	0.0027	31	c.337 others(46): Show c.337+640_337+641insGGATGCCCTGGGTGGGTGCTGGCCGTGTGG G		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747679	C C	CCCCGCAC others(24): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03139.hp1 HG03139.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0003 a0004c0004t0001 a0004c0004t0003	a0004c0004t0001g0152 a0004c0004t0003g0096 a0004c0004t0001g0152 a0004c0004t0003g0096	2	374	0.0054	31	c.337 others(46): Show c.337+609_337+610insCGATGCCCTGGGTGGGTGCTGGCCGTGCGG G		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747772	G G	GCCCGCAC others(24): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19083.hp1 NA19060.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0191 a0001c0001t0001g0158 a0001c0001t0001g0191	2	374	0.0054	31	c.337 others(46): Show c.337+516_337+517insGGATGCCCTGGGTGGGTGCTGGCCGTGCGG G		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747803	G G	GCCCGCAC others(24): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG01515.hp1 others(4): Show HG01106.hp1 HG01123.hp1 HG01515.hp1 HG01517.hp1 NA18969.hp1 NA19011.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0214 a0001c0001t0001g0235	7	374	0.0187	31	c.337 others(46): Show c.337+455_337+485dupGGATGCCCTGGGTGGGTGCTGGCCGTGCGG G		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYRM7_chr5_131165944_131210428	131181302	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0160 a0001c0001t0006g0160	1	300	0.0033	31	c.92- others(44): Show c.92-927_92-926insTATATATATATATATATATATATATATATAT		LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4						chr5	TogoVar
LYSMD1_chr1_151154748_151170902	151160238	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0099 a0001c0001t0056g0099	1	344	0.0029	31	c.64 others(40): Show c.643_*644insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		LYSMD1	ENSG00000163155.12	transcript	ENST00000368908.10	protein_coding	3/3				643		chr1	TogoVar
M1AP_chr2_74552883_74653330	74558799	A A	AGGCTCTG others(24): Show AGGCTCTGCCTGGGACAGGAGTCATAGGCAGG	frameshift_variant frameshift_variant	HIGH	NA18979.hp2 NA18979.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0002 a0000c0008t0002	a0000c0008t0002g0077 a0000c0008t0002g0077	1	248	0.0040	31	c.147 others(40): Show c.1479_1509dupCCTGCCTATGACTCCTGTCCCAGGCAGAGCC	p.Ser others(5): Show p.Ser504fs	M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	11/11	1627/2544	1509/1593	503/530			chr2	TogoVar
MAB21L1_chr13_35468789_35481689	35468982	C C	CAGCTACT others(24): Show CAGCTACTCAGGATGGCGTGAGTGCATGTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0000 a0001c0001t0020g0000	1	466	0.0022	31	c.60 others(42): Show c.6076_*6077insAGTACATGCACTCACGCCATCCTGAGTAGCT		MAB21L1	ENSG00000180660.9	transcript	ENST00000379919.6	protein_coding					4806		chr13	TogoVar
MACF1_chr1_39199695_39492138	39307901	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0180 a0002c0003t0002g0180	1	246	0.0041	31	c.279 others(50): Show c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	23/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39393196	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0234 a0006c0005t0001g0234	1	246	0.0041	31	c.158 others(52): Show c.15816+4539_15816+4540insAAAAAAAAAAAAAAATATATATAT ATATATA		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477067	A A	ATATATAT others(24): Show ATATATATACACACACATATATACACTTAGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0011 a0002c0004t0001 a0002c0004t0011	a0002c0004t0001g0202 a0002c0004t0011g0194 a0002c0004t0001g0202 a0002c0004t0011g0194	2	246	0.0081	31	c.219 others(52): Show c.21959-2723_21959-2722insCACACACATATATACACTTAGTGT ATATATA		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477075	A A	ATATATAC others(24): Show ATATATACACACACACATATATACACTTAGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0024 a0024	a0024c0076 a0024c0076	a0024c0076t0003 a0024c0076t0003	a0024c0076t0003g0222 a0024c0076t0003g0222	1	246	0.0041	31	c.219 others(52): Show c.21959-2717_21959-2716insCACACACACATATATACACTTAGT GTATATA		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MACIR_chr5_103253763_103283660	103261650	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0068 a0001c0002t0003g0068	1	360	0.0028	31	c.-11 others(50): Show c.-114+2777_-114+2778insTCTTTTCTTTTCTTTCTTTCTTTCTT TCTTT		MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
MACROD2_chr20_13990516_16058197	14967335	G G	GGTGCACG others(24): Show GGTGCACGCCACCATGCCTAGCTAATTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19043.hp1 HG03041.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0012 a0001c0001t0004g0008 a0001c0001t0001g0012 a0001c0001t0004g0008	2	24	0.0833	31	c.419 others(52): Show c.419-262603_419-262602insGCACGCCACCATGCCTAGCTAATT TTTTTGT		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1861395	T T	TCACTGCT others(24): Show TCACTGCTCCGCCTGCCCCCTGGTTGGAGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01109.hp1 others(19): Show HG00099.hp1 HG00639.hp2 HG01109.hp1 HG01167.hp2 HG02055.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0007 a0001c0006t0001	a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 others(19): Show a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0189 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0002g0087 a0001c0003t0001g0072 a0001c0003t0007g0135 a0001c0006t0001g0158	22	264	0.0833	31	c.199 others(52): Show c.1998+36774_1998+36804dupTCCCTCCAACCAGGGGGCAGGCGG AGCAGTG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
MADCAM1_chr19_491486_510343	492205	T T	TCCCTGGG others(24): Show TCCCTGGGCGGAGCCAGCCCCAAGCCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG01891.hp2 others(30): Show HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03927.hp1 NA18522.hp2 NA20300.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0026	a0001c0016 a0001c0024 a0002c0013 others(7): Show a0001c0016 a0001c0024 a0002c0013 a0002c0043 a0004c0003 a0005c0007 a0005c0011 a0005c0023 a0006c0019 a0026c0035	a0001c0016t0001 a0001c0024t0001 a0002c0013t0002 others(7): Show a0001c0016t0001 a0001c0024t0001 a0002c0013t0002 a0002c0043t0001 a0004c0003t0002 a0005c0007t0001 a0005c0011t0001 a0005c0023t0001 a0006c0019t0002 a0026c0035t0001	a0001c0016t0001g0087 a0001c0024t0001g0088 a0002c0013t0002g0009 others(20): Show a0001c0016t0001g0087 a0001c0024t0001g0088 a0002c0013t0002g0009 a0002c0013t0002g0083 a0002c0013t0002g0084 a0002c0013t0002g0090 a0002c0013t0002g0109 a0002c0043t0001g0251 a0004c0003t0002g0015 a0005c0007t0001g0001 a0005c0007t0001g0042 a0005c0007t0001g0153 a0005c0007t0001g0154 a0005c0007t0001g0156 a0005c0007t0001g0157 a0005c0007t0001g0158 a0005c0011t0001g0001 a0005c0011t0001g0155 a0005c0011t0001g0159 a0005c0011t0001g0160 a0005c0023t0001g0089 a0006c0019t0002g0139 a0026c0035t0001g0085	33	364	0.0907	31	c.-42 others(42): Show c.-4295_-4294insCCCTGGGCGGAGCCAGCCCCAAGCCCCCCTC		MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding					4280		chr19	TogoVar
MAEA_chr4_1284891_1345137	1333964	C C	CCCCATGC others(24): Show CCCCATGCCCGTGTGCCCACCCCTGCACCCAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	388	0.0026	31	c.765 others(48): Show c.765+1114_765+1115insCCACCCCTGCACCCATCCCATGCCCGTG TGC		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1334062	C C	CCCCATGC others(24): Show CCCCATGCCCGTGTGCCCACCCCTGCACCCAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA19009.hp2 others(2): Show HG01515.hp1 HG01517.hp1 NA19009.hp2 NA19064.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0002t0001g0021 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0002t0001g0021 a0001c0002t0001g0032 a0001c0002t0001g0057	5	388	0.0129	31	c.765 others(48): Show c.765+1212_765+1213insCCACCCCTGCACCCATCCCATGCCCGTG TGC		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEB10_chrX_27802990_27828014	27809516	C C	CCCCGCCC others(24): Show CCCCGCCCGCCCCCCCCCCCCCGCCCCGCCCG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	250	0.0040	31	c.-19 others(50): Show c.-199+1482_-199+1483insCGCCCGCCCCCCCCCCCCCGCCCCGC CCGCC		MAGEB10	ENSG00000177689.10	transcript	ENST00000356790.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGED1_chrX_51888623_51907354	51895649	C C	CAGGAATA others(24): Show CAGGAATAGACAAATGAGGAACTGGCACTCAG	frameshift_variant frameshift_variant	HIGH	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0001 a0002c0006t0001g0001	1	265	0.0038	31	c.642 others(38): Show c.642_643insAGGAATAGACAAATGAGGAACTGGCACTCAG	p.Asp others(5): Show p.Asp215fs	MAGED1	ENSG00000179222.18	transcript	ENST00000326587.12	protein_coding	3/13	812/2723	643/2337	215/778			chrX	TogoVar
MAGI1_chr3_65348526_66043918	65395636	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	104	0.0096	31	c.220 others(50): Show c.2200-4279_2200-4278insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	13/22						chr3	TogoVar

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Search Results (Total: 5228 hits)