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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
LRRTM3_chr10_66921036_67106551	66978552	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0075 a0002c0002t0004g0075	1	294	0.0034	35	c.153 others(56): Show c.1536+50101_1536+50102insAAATATATATATATATATATATAT ATATATATATA	LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRTM3_chr10_66921036_67106551	66978552	A A	ATAAAAAA others(28): Show ATAAAAAAAATAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG04204.hp2 HG01168.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0165 a0001c0001t0002g0131 a0001c0001t0002g0165	2	294	0.0068	35	c.153 others(56): Show c.1536+50100_1536+50101insTAAAAAAAATAAAAAAAAAAAAAA AATATATATAT	LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2			chr10	TogoVar
LRRTM3_chr10_66921036_67106551	66978552	A A	ATAAAAAA others(28): Show ATAAAAAAAATAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04115.hp1 NA19070.hp1 HG01255.hp1 HG04115.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0135 a0001c0001t0002g0085 a0001c0001t0005g0164 a0001c0001t0001g0135 a0001c0001t0002g0085 a0001c0001t0005g0164	3	294	0.0102	35	c.153 others(56): Show c.1536+50100_1536+50101insTAAAAAAAATAAAAAAAAAAAAAA TATATATATAT	LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2			chr10	TogoVar
LRRTM3_chr10_66921036_67106551	66978552	A A	ATAAAAAA others(28): Show ATAAAAAAAATAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18995.hp1 NA19009.hp2 others(1): Show HG00621.hp2 NA18995.hp1 NA19009.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 others(1): Show a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0146	4	294	0.0136	35	c.153 others(56): Show c.1536+50100_1536+50101insTAAAAAAAATAAAAAAAAAAAATA TATATATATAT	LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2			chr10	TogoVar
LRRTM4_chr2_76742685_77527376	77307527	T T	TAATATAT others(28): Show TAATATATAGATATATCTATATATTATAGAAATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	128	0.0078	35	c.155 others(58): Show c.1551+210756_1551+210790dupTATATTTCTATAATATATAGAT ATATCTATATATT	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LRRTM4_chr2_76742685_77527376	77307682	T T	TCTATATA others(28): Show TCTATATATTATAGAAATATAAATATATAGATATAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	128	0.0078	35	c.155 others(58): Show c.1551+210601_1551+210635dupGTATATCTATATATTTATATTT CTATAATATATAG	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LRSAM1_chr9_127446510_127508499	127454047	A A	ATAGAAAG others(28): Show ATAGAAAGACGCAGCCCCTGCCCTTGTGGAACTCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00558.hp2 others(81): Show HG00099.hp1 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02258.hp2 HG02451.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03669.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18959.hp1 NA18962.hp1 NA18966.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0002c0005 others(2): Show a0001c0001 a0001c0007 a0002c0005 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0002c0005t0001 a0002c0005t0002 a0003c0004t0001 a0003c0004t0002 a0004c0006t0001 a0004c0006t0004	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(79): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0002g0027 a0001c0007t0001g0275 a0001c0007t0001g0276 a0001c0007t0001g0278 a0002c0005t0001g0018 a0002c0005t0002g0028 a0003c0004t0001g0015 a0003c0004t0001g0019 a0003c0004t0001g0020 a0003c0004t0001g0024 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0002g0025 a0003c0004t0002g0026 a0004c0006t0001g0331 a0004c0006t0001g0333 a0004c0006t0004g0009	84	340	0.2471	35	c.-32 others(50): Show c.-32-427_-32-426insTTGTGGAACTCACTAGAAAGACGCAGCCCC TGCCC	LRSAM1	ENSG00000148356.15	transcript	ENST00000300417.11	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
LSAMP_chr3_115797374_116450487	116113420	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0097 a0001c0001t0017g0097	1	104	0.0096	35	c.156 others(54): Show c.156-26865_156-26864insAAAAAAATATATATATATATATATAT ATATATATA	LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	1/6			chr3	TogoVar
LSM12_chr17_44029328_44071671	44041879	C C	CTGGAGAC others(28): Show CTGGAGACTCTTCAGACCCATGAACATGAACAGCTG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	298	0.0034	35	c.259 others(52): Show c.259-1658_259-1624dupCAGCTGTTCATGTTCATGGGTCTGAAGA GTCTCCA	LSM12	ENSG00000161654.10	transcript	ENST00000293406.8	protein_coding	2/4			chr17	TogoVar
LSS_chr21_46183446_46233774	46225362	A A	AGGCCCGT others(28): Show AGGCCCGTTGCCAAGCGGACCCAACCGTGGTCTAGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG03130.hp1 others(2): Show HG02486.hp1 HG02622.hp1 HG03130.hp1 NA18906.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0243 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0243	5	358	0.0140	35	c.319 others(52): Show c.319+2155_319+2189dupGCTAGACCACGGTTGGGTCCGCTTGGCA ACGGGCC	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	3/21			chr21	TogoVar
LTBP1_chr2_32941953_33404509	33328162	T T	TAAATAAA others(28): Show TAAATAAATAAATAAATAAATAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0019 a0002c0016t0019	a0002c0016t0019g0081 a0002c0016t0019g0081	1	164	0.0061	35	c.373 others(56): Show c.3730+12900_3730+12901insTAAATAAATAAATAAATAAAATAA AATAAAATAAA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	24/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA19007.hp2 NA18747.hp1 NA19007.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0007 a0003c0003t0001 a0001c0004t0007 a0003c0003t0001	a0001c0004t0007g0015 a0003c0003t0001g0183 a0001c0004t0007g0015 a0003c0003t0001g0183	2	404	0.0050	35	c.29 others(46): Show c.2946_*2947insAAAAATATATATATATATATATATATATATATAT A	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0002 a0001c0004t0001g0002	1	404	0.0025	35	c.29 others(46): Show c.2946_*2947insAAAAAAAAATATATATATATATATATATATATAT A	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0288 a0001c0004t0001g0288	1	404	0.0025	35	c.29 others(46): Show c.2946_*2947insAAAAAAAAAAATATATATATATATATATATATAT A	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LUC7L_chr16_183990_234449	186680	G G	GGGAACAG others(28): Show GGGAACAGCGACACGGGGGGGACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	350	0.0029	35	c.25 others(46): Show c.2517_*2518insTCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTC C	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2309		chr16	TogoVar
LUC7L_chr16_183990_234449	188318	C C	CCAAGCTG others(28): Show CCAAGCTGAGCCCTGAGATCACGCCACCTTGCACTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	350	0.0029	35	c.87 others(44): Show c.879_*880insTAGTGCAAGGTGGCGTGATCTCAGGGCTCAGCTTG	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		671		chr16	TogoVar
LURAP1L_chr9_12770020_12828060	12786547	C C	CTATATAT others(28): Show CTATATATATATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0122 a0003c0003t0003g0122	1	418	0.0024	35	c.312 others(54): Show c.312+10520_312+10521insTATATATATATATATATATATATATG TATATATAT	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/1			chr9	TogoVar
LURAP1_chr1_46198334_46226256	46198945	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	356	0.0028	35	c.-44 others(46): Show c.-4482_-4481insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	LURAP1	ENSG00000171357.6	transcript	ENST00000371980.4	protein_coding		4388		chr1	TogoVar
LURAP1_chr1_46198334_46226256	46222073	T T	TGGGGGGG others(28): Show TGGGGGGGGGGGGGGGCGGGGGGGTGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	356	0.0028	35	c.18 others(46): Show c.1853_*1854insGGGGGGGGGGGGGGGCGGGGGGGTGGGGGGGGGG G	LURAP1	ENSG00000171357.6	transcript	ENST00000371980.4	protein_coding		818		chr1	TogoVar
LY86_chr6_6583720_6659982	6624374	A A	AATGGGAT others(28): Show AATGGGATGGGATGGGATGGGATGGGATGGGATGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00642.hp1 others(80): Show HG00099.hp2 HG00280.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01261.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02055.hp2 HG02083.hp1 HG02155.hp2 HG02258.hp2 HG02486.hp2 HG02602.hp2 HG02717.hp2 HG02735.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03491.hp2 HG03579.hp2 HG03669.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19005.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0020 others(79): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0276 a0001c0001t0001g0286 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0001g0356 a0001c0001t0001g0367 a0001c0001t0001g0382 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0390 a0001c0001t0001g0396 a0001c0001t0001g0409 a0001c0001t0001g0410 a0001c0001t0001g0412 a0001c0001t0001g0413 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0341 a0002c0002t0001g0072 a0002c0002t0001g0073 a0003c0004t0001g0087 a0003c0004t0001g0104 a0003c0004t0001g0355	83	424	0.1958	35	c.137 others(50): Show c.137-551_137-517dupATGGGATGGGATGGGATGGGATGGGATGGG ATGGG	LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
LY9_chr1_160791174_160833255	160828909	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	394	0.0025	35	c.10 others(46): Show c.1093_*1094insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	LY9	ENSG00000122224.18	transcript	ENST00000263285.11	protein_coding		655		chr1	TogoVar
LYPD8_chr1_248734415_248760759	248735769	T T	TGGGCTAT others(28): Show TGGGCTATAATTTTTGTATTTCAAAATAGCTAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	374	0.0027	35	c.38 others(46): Show c.3841_*3842insTCTTTAGCTATTTTGAAATACAAAAATTATAGCC C	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding		3645		chr1	TogoVar
LYPD8_chr1_248734415_248760759	248742682	C C	CGCTCTGG others(28): Show CGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATTAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0044 a0004c0004t0002g0044	1	374	0.0027	35	c.475 others(52): Show c.475+2425_475+2459dupATAATCTCCCCCGCTGCCAACATCCCCA CCAGAGC	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATTTTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp2 HG02630.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0019 a0001c0001t0002g0035	2	306	0.0065	35	c.101 others(54): Show c.101+16774_101+16775insATATATATATATATATAAAAATTTTT TTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYSMD1_chr1_151154748_151170902	151160238	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01516.hp2 others(19): Show HG00738.hp1 HG01099.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02015.hp2 HG02523.hp2 HG03490.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18942.hp1 NA18942.hp2 NA18960.hp2 NA18969.hp1 NA18973.hp1 NA18983.hp2 NA18993.hp1 NA18999.hp2 NA19065.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0057 a0002c0002t0003 a0001c0001t0003 a0001c0001t0057 a0002c0002t0003	a0001c0001t0003g0002 a0001c0001t0003g0047 a0001c0001t0003g0116 others(2): Show a0001c0001t0003g0002 a0001c0001t0003g0047 a0001c0001t0003g0116 a0001c0001t0057g0100 a0002c0002t0003g0024	22	344	0.0640	35	c.64 others(44): Show c.643_*644insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LYSMD1	ENSG00000163155.12	transcript	ENST00000368908.10	protein_coding	3/3	643		chr1	TogoVar
LYST_chr1_235656041_235871906	235755388	C C	CAAAAGAA others(28): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG02723.hp1 HG02970.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0003 a0003c0009t0002 a0003c0009t0003	a0003c0009t0002g0096 a0003c0009t0003g0094 a0003c0009t0002g0096 a0003c0009t0003g0094	2	236	0.0085	35	c.722 others(50): Show c.7229+55_7229+89dupCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTT	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	25/52			chr1	TogoVar
LYST_chr1_235656041_235871906	235755423	G G	GAAAAGAA others(28): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0107 a0005c0018t0001g0107	1	236	0.0042	35	c.722 others(50): Show c.7229+54_7229+55insGTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTT	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	25/52			chr1	TogoVar
LYZL2_chr10_30606779_30634753	30611702	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	456	0.0022	35	c.25 others(44): Show c.252_*253insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		76		chr10	TogoVar
MACF1_chr1_39199695_39492138	39289693	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0154 a0003c0002t0001g0154	1	246	0.0041	35	c.178 others(54): Show c.1785+2163_1785+2164insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	15/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACROD1_chr11_63993558_64171113	64035713	G G	GCCCCCGC others(28): Show GCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp1 HG02630.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0119 a0001c0001t0001g0005 a0001c0001t0001g0119	2	198	0.0101	35	c.518 others(54): Show c.518-20433_518-20432insGGGGGAGGCAGCGGGCGGGGAGGAGG TGGCGGGGG	MACROD1	ENSG00000133315.12	transcript	ENST00000255681.7	protein_coding	3/10			chr11	TogoVar
MACROD2_chr20_13990516_16058197	14577794	A A	AAAGAGAA others(28): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp2 HG02976.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0016 a0002c0002t0001g0017 a0001c0001t0004g0016 a0002c0002t0001g0017	2	24	0.0833	35	c.301 others(54): Show c.301+84294_301+84328dupGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14954824	A A	ATAAATAT others(28): Show ATAAATATATTATATATAATTTATATTATATCTAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	1	24	0.0417	35	c.418 others(56): Show c.418+269895_418+269896insCTAATTAAATATATTATATATAAT TTATATTATAT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14954824	A A	ATAAATAT others(28): Show ATAAATATATTATATATAATTTATATTATATGTAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01081.hp2 others(14): Show HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03486.hp2 NA18970.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0003c0003t0006	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0002g0015 a0001c0001t0003g0002 a0001c0001t0004g0016 a0001c0001t0005g0003 a0001c0001t0012g0020 a0001c0001t0013g0006 a0002c0002t0001g0017 a0002c0002t0002g0010 a0002c0002t0002g0022 a0002c0002t0003g0024 a0002c0002t0007g0013 a0002c0002t0010g0007 a0003c0003t0006g0019	17	24	0.7083	35	c.418 others(56): Show c.418+269881_418+269915dupTAATTTATATTATATGTAATTAAA TATATTATATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1860367	G G	GTCCCTAG others(28): Show GTCCCTAGACTTGACATCCTGCGGGGCGGCCTCTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp1 HG02922.hp1 others(8): Show HG01081.hp1 HG01255.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp1 HG06807.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0011t0001	a0001c0001t0001g0081 a0001c0001t0001g0184 a0001c0001t0001g0185 others(8): Show a0001c0001t0001g0081 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0166 a0001c0006t0001g0237 a0001c0011t0001g0244	11	264	0.0417	35	c.199 others(56): Show c.1998+37798_1998+37832dupACAGAGGCCGCCCCGCAGGATGTC AAGTCTAGGGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1986461	A A	ACGCCGGC others(28): Show ACGCCGGCAAGGGGGTTCTACTCCGCGGCTCCCTCG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	264	0.0038	35	c.141 others(54): Show c.1417-5921_1417-5920insCGAGGGAGCCGCGGAGTAGAACCCCC TTGCCGGCG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1986474	A A	AGTTCTAC others(28): Show AGTTCTACTCCGCGGCTCCCTCGCGCCGGCAAGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(51): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01106.hp2 HG01175.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02080.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02735.hp1 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18942.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18995.hp1 NA19009.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0002c0009 a0002c0012	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0009t0001 a0002c0012t0001	a0001c0001t0001g0090 a0002c0002t0001g0003 a0002c0002t0001g0004 others(51): Show a0001c0001t0001g0090 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0075 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0010g0264 a0002c0005t0001g0104 a0002c0005t0001g0110 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0196 a0002c0005t0001g0215 a0002c0009t0001g0096 a0002c0012t0001g0044	54	264	0.2046	35	c.141 others(54): Show c.1417-5968_1417-5934dupCCCCTTGCCGGCGCGAGGGAGCCGCG GAGTAGAAC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1986556	C C	CGGCTCCC others(28): Show CGGCTCCCTCGCGCCGGCAAGGGGGTTCTACTCCGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00735.hp2 others(6): Show HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01099.hp2 HG01975.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 others(6): Show a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0205 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0180	9	264	0.0341	35	c.141 others(54): Show c.1417-6016_1417-6015insACGGAGTAGAACCCCCTTGCCGGCGC GAGGGAGCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2094671	G G	GAAGGCCC others(28): Show GAAGGCCCCGGGACAGGAGCGTGGATGGCAGGTGCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01074.hp2 others(23): Show HG00438.hp2 HG00558.hp2 HG01074.hp2 HG01243.hp1 HG01255.hp2 HG01515.hp2 HG02698.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG04228.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18963.hp1 NA18969.hp2 NA18985.hp2 NA18990.hp1 NA19012.hp2 NA19056.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0006t0001 a0001c0007t0004 a0004c0008t0001	a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0146 others(23): Show a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0005g0137 a0001c0003t0001g0015 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0088 a0001c0006t0001g0218 a0001c0007t0004g0079 a0001c0007t0004g0080 a0004c0008t0001g0194	26	264	0.0985	35	c.107 others(56): Show c.1074-25368_1074-25334dupTGCACCTGCCATCCACGCTCCTGT CCCGGGGCCTT	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2158862	T T	TGCACCTG others(28): Show TGCACCTGCTGCACCTGCTGCACCCAGCCTGAGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	264	0.0038	35	c.987 others(52): Show c.987-9659_987-9625dupGGCCTCAGGCTGGGTGCAGCAGGTGCAG CAGGTGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1317155	C C	CCCCACAC others(28): Show CCCCACACTCCACACTCACCTGCAGGCCCACCCAGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0267 a0003c0012t0001g0267	1	388	0.0026	35	c.456 others(52): Show c.456+1566_456+1567insCACTCACCTGCAGGCCCACCCAGTCCCA CACTCCA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317155	C C	CCCCACAC others(28): Show CCCCACACTCCACACTCACCTGCAGGCCCACCCGGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01978.hp1 HG02451.hp1 others(2): Show HG01261.hp1 HG01978.hp1 HG02451.hp1 HG03710.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0177 a0001c0001t0001g0246 a0001c0001t0001g0271 others(2): Show a0001c0001t0001g0177 a0001c0001t0001g0246 a0001c0001t0001g0271 a0001c0002t0001g0013 a0001c0002t0001g0117	5	388	0.0129	35	c.456 others(52): Show c.456+1566_456+1567insCACTCACCTGCAGGCCCACCCGGTCCCA CACTCCA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317175	T T	TGCAGGCC others(28): Show TGCAGGCCCACCCGGTCCCACACTCCAGACTCACCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG01243.hp1 others(24): Show HG00738.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01358.hp1 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02071.hp1 HG02145.hp2 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03471.hp2 HG03490.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0135 others(24): Show a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0013g0161 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0005t0001g0264 a0001c0005t0001g0265	27	388	0.0696	35	c.456 others(52): Show c.456+1587_456+1588insGGTCCCACACTCCAGACTCACCCGCAGG CCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317286	T T	TGCAGGCC others(28): Show TGCAGGCCCACCCGGCCCCACACTCCAGACTCACCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0301 a0001c0001t0001g0302	2	388	0.0052	35	c.456 others(52): Show c.456+1695_456+1729dupACCCGGCCCCACACTCCAGACTCACCCG CAGGCCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1334164	A A	ATGCCCAC others(28): Show ATGCCCACCGTGTGCTCACCCCTGCACCCACCCCCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0251 a0001c0001t0006g0251	1	388	0.0026	35	c.765 others(52): Show c.765+1307_765+1308insGTGTGCTCACCCCTGCACCCACCCCCGT GCCCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEB10_chrX_27802990_27828014	27809474	C C	CCCCCGCC others(28): Show CCCCCGCCCGCCCCCCCCCCCGCCCGCCCCCCCCCG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0165 a0002c0002t0002g0165	1	250	0.0040	35	c.-19 others(54): Show c.-199+1445_-199+1446insCGCCCCCCCCCCCGCCCGCCCCCCCC CGCCCCGCC	MAGEB10	ENSG00000177689.10	transcript	ENST00000356790.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAK_chr6_10757723_10843539	10786796	A A	ACTAATGC others(28): Show ACTAATGCACCAGTTCACCTCCTATTCACCACTCCG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0207 a0001c0008t0001g0207	1	272	0.0037	35	c.131 others(54): Show c.1317-2225_1317-2224insCGGAGTGGTGAATAGGAGGTGAACTG GTGCATTAG	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	10/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10786907	T T	TCACCAGT others(28): Show TCACCAGTTCACCTCCTATTCACCACTCCGCTAATG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp2 HG01106.hp1 others(62): Show HG00558.hp2 HG01069.hp2 HG01106.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02273.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03710.hp2 HG04184.hp2 NA18945.hp2 NA18963.hp1 NA18969.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19078.hp1 NA19082.hp2 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0002c0003 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0004t0006 a0001c0008t0001 a0002c0003t0001 a0002c0003t0013 a0007c0010t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(62): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0131 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0247 a0001c0001t0002g0067 a0001c0001t0002g0098 a0001c0001t0002g0197 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0231 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0011g0062 a0001c0004t0006g0198 a0001c0004t0006g0201 a0001c0008t0001g0207 a0002c0003t0001g0189 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0013g0264 a0007c0010t0001g0075	65	272	0.2390	35	c.131 others(54): Show c.1317-2370_1317-2336dupCATTAGCGGAGTGGTGAATAGGAGGT GAACTGGTG	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	10/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10787134	A A	ATTCACCA others(28): Show ATTCACCACTCCGCTAATGCACCAGTTCACCTCCTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03098.hp1 HG02615.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0008g0083 a0001c0001t0008g0084	2	272	0.0074	35	c.131 others(54): Show c.1317-2563_1317-2562insCAGGAGGTGAACTGGTGCATTAGCGG AGTGGTGAA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	10/14			chr6	TogoVar
MALRD1_chr10_19043801_19739478	19305973	G G	GCTATATA others(28): Show GCTATATATTATATATACTATATATTATATATTATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0017 a0017	a0017c0072 a0017c0072	a0017c0072t0002 a0017c0072t0002	a0017c0072t0002g0082 a0017c0072t0002g0082	1	152	0.0066	35	c.342 others(56): Show c.3420-17954_3420-17920dupTATTATATATTATACTATATATTA TATATACTATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19355858	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0009 a0009	a0009c0073 a0009c0073	a0009c0073t0001 a0009c0073t0001	a0009c0073t0001g0032 a0009c0073t0001g0032	1	152	0.0066	35	c.444 others(54): Show c.4441+3561_4441+3562insATATATATATATATATATATATATAT ATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 4618 hits)