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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
LHFPL3_chr7_104323603_104913561	104833052	A A	AATAGATA others(199): Show AATAGATATATTATATATATATATTATATATAATAGATATATTATATATA ATATATTATATATAATAGATATATTATATATATATTATATATAATAGATA TATTATATATAATATATTATATATAATAGATATATTATATATATTATATA TAATAGATATATTATATATATCTATTATATATAATAGATATATATTATAT ATATATC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0049 a0001c0001t0013g0049	1	86	0.0116	206	c.683 others(225): Show c.683-73135_683-73134insATAGATATATTATATATATATATTAT ATATAATAGATATATTATATATAATATATTATATATAATAGATATATTAT ATATATATTATATATAATAGATATATTATATATAATATATTATATATAAT AGATATATTATATATATTATATATAATAGATATATTATATATATCTATTA TATATAATAGATATATATTATATATATATC	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LMF1_chr16_848634_975984	857984	C C	CGTGGTGT others(199): Show CGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGAGTGGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGG GTGTGCA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0067 a0001c0004t0001g0067	1	294	0.0034	206	c.153 others(225): Show c.1530-3279_1530-3278insTGCACACCCATCCCGTGACACCACGC ACACCCATCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGAGACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858052	G G	GAGTGGTG others(199): Show GAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTG TCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCAC GGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGA TGGGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG04184.hp1 HG00597.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0205 a0001c0001t0001g0166 a0001c0001t0001g0205	2	294	0.0068	206	c.153 others(225): Show c.1530-3347_1530-3346insACACCCATCCCGAGACACCACGCACA CCCATCCCGAGACACCACGCACACCCATCCCGTGACACCACGCACACCCA TCCCGAGACACCACTCACACCCATCCCGTGACACCACGCACACCCATCCC GAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGA CACCACTCACACCCATCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858052	G G	GAGTGGTG others(199): Show GAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCACGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTG TCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCAC GGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGA TGGGTGT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0144 a0001c0003t0001g0144	1	294	0.0034	206	c.153 others(225): Show c.1530-3347_1530-3346insACACCCATCCCGAGACACCACGCACA CCCATCCCGAGACACCACGCACACCCATCCCGTGACACCACGCACACCCA TCCCGAGACACCACTCACACCCATCCCGTGACACCACGCACACCCATCCC GAGACACCACGCACACCCATCCCGTGACACCACTCACACCCATCCCGAGA CACCACTCACACCCATCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LUZP2_chr11_24492053_25087638	25044079	A A	ATATATAT others(199): Show ATATATATAGTCTATATATATATCTGATATATATATAGTCTATATATATC TGATAAGACTATATATATATCTGATATATATATAGACTCTATATATCAGA GATATATAGAGTCTATATATATCAGATATATATATAGAGTCTATATATCT CTGATATATAGAGTCTATATATATCTCTGATATATAGAGTCTATATATCT GATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0039 a0001c0001t0013g0039	1	116	0.0086	206	c.766 others(223): Show c.766-5959_766-5958insTATATATAGTCTATATATATATCTGATA TATATATAGTCTATATATATCTGATAAGACTATATATATATCTGATATAT ATATAGACTCTATATATCAGAGATATATAGAGTCTATATATATCAGATAT ATATATAGAGTCTATATATCTCTGATATATAGAGTCTATATATATCTCTG ATATATAGAGTCTATATATCTGATATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11			chr11	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(199): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	436	0.0023	206	c.40 others(217): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAA AGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAA AGAAAGGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAA AGAAAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAD1L1_chr7_1810795_2237945	1930327	A A	ACTGCCAC others(199): Show ACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGT CCCCTCGCCCCATCCCCCACTGCCACGTCCCCATCGCCCCGTCCCCACTG CCACAACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCGTCCCC GCTGCCACGTCCCCTCGCCCCATCCCCCACCGCCACGTCCCCATCGCCCC GTCCCCG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0194 a0004c0008t0001g0194	1	264	0.0038	206	c.180 others(225): Show c.1807+6359_1807+6360insCGGGGACGGGGCGATGGGGACGTGGC GGTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGAC GTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGATG GGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGGGGCGAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(199): Show ATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAT AAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAAT ATATAAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0036 a0036	a0036c0045 a0036c0045	a0036c0045t0001 a0036c0045t0001	a0036c0045t0001g0014 a0036c0045t0001g0014	1	152	0.0066	206	c.342 others(225): Show c.3420-8498_3420-8497insAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATA AATATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCCG others(199): Show ACCCCCCGCCCCACACACACACACCCCCCGCCCCGCCCCAGGGTGGGAGC CACACACCCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCCGCC CCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACAC CCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACA CACACAC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	399	0.0025	206	c.557 others(223): Show c.557-2677_557-2676insCGCCCCACACACACACACCCCCCGCCCC GCCCCAGGGTGGGAGCCACACACCCCCCGCCCTGCCCCAGGGTGGGAGCC ACACACACCCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTG GGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACA CACACCCCGCCCCACACACACACCCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT4C_chr12_85950667_86261391	86110302	A A	ATATAGTC others(199): Show ATATAGTCTATATATATATATAGTCTATATATATATAGACTATATATATA TATAGACTATATATATAGTCTATATATATATAGTCTATATATATATATAG TCTATATATATATAGTCTATATATATATATAGTCTATATATATAGTCTAT ATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATATA TATAGTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG02615.hp2 others(2): Show HG00639.hp2 HG01884.hp2 HG02615.hp2 HG02622.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0069 a0001c0001t0074 a0001c0001t0005 a0001c0001t0069 a0001c0001t0074	a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0179 others(2): Show a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0179 a0001c0001t0069g0173 a0001c0001t0074g0049	5	186	0.0269	206	c.-56 others(225): Show c.-56-60580_-56-60579insGACTATATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATATAGACTATATATATAGAC TATATATATATATAGACTATATATATATAGACTATATATATATATAGACT ATATATATATAGACTATATATATAGTCTATATATATATATAGTCTATATA TATATAGACTATATATATATATAGACTATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(199): Show CTTTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	181	0.0055	206	c.107 others(225): Show c.1074-5164_1074-5163insTTTCCTTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(199): Show CTTTCCTTTCCTTTCCTTTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	181	0.0055	206	c.107 others(225): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(199): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTCTCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0159 a0002c0003t0002g0159	1	181	0.0055	206	c.107 others(225): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTCTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(199): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp1 NA21309.hp1 HG02647.hp1 HG03225.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0009 a0001c0002t0006 a0001c0002t0009	a0001c0002t0006g0179 a0001c0002t0006g0180 a0001c0002t0009g0176 a0001c0002t0006g0179 a0001c0002t0006g0180 a0001c0002t0009g0176	3	181	0.0166	206	c.107 others(225): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MINAR1_chr15_79427336_79477304	79438239	G G	GGGTGGGT others(199): Show GGGTGGGTAGTGTGTGGGGTGTGTGTAGGTAGTGAGTGTATGGGTGTGGG TGGGGTGGGTAGTGTGTGGGATGTGGGGTGTGTGTAGGTAGTGTGTGGGT GTGGGTGGGATGGGTAGTAAGGGTGTGTGTAGGTAGTGAGTGTGTGGGGT GTGGGGTGGGTAGTGAGTGTGTGGGTGTGGGTGGGGTGGGCAGTGAGTGT GTGGGGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	390	0.0026	206	c.-51 others(223): Show c.-51+5699_-51+5700insGGTGGGTAGTGTGTGGGGTGTGTGTAGG TAGTGAGTGTATGGGTGTGGGTGGGGTGGGTAGTGTGTGGGATGTGGGGT GTGTGTAGGTAGTGTGTGGGTGTGGGTGGGATGGGTAGTAAGGGTGTGTG TAGGTAGTGAGTGTGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGTGTG GGTGGGGTGGGCAGTGAGTGTGTGGGGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3			chr15	TogoVar
MPPED1_chr22_43407014_43512848	43432876	A A	AGAAAGGG others(199): Show AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAG GGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0200 a0001c0007t0002g0200	1	250	0.0040	206	c.225 others(223): Show c.225-2157_225-2156insAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGA GGAGAGAGAGAGGGAAAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH2A_chr2_233773330_233838418	233787916	A A	ATATACAT others(199): Show ATATACATATATATTATATATACATATATATTATATATACATATATATTA TATATATACATATATATTATATATACATATATATTATATATATACATATA TATTATATATACATATATATTATATATACATATATATTATATATATACAT ATATATTATATATACATATATATTATATATACATATATATTATATATACA TATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG02809.hp1 HG02922.hp1	a0018 a0032 a0018 a0032	a0018c0175 a0032c0057 a0018c0175 a0032c0057	a0018c0175t0001 a0032c0057t0001 a0018c0175t0001 a0032c0057t0001	a0018c0175t0001g0187 a0032c0057t0001g0062 a0018c0175t0001g0187 a0032c0057t0001g0062	2	378	0.0053	206	c.277 others(223): Show c.277-1577_277-1576insCATATATATTATATATACATATATATTA TATATACATATATATTATATATATACATATATATTATATATACATATATA TTATATATATACATATATATTATATATACATATATATTATATATACATAT ATATTATATATATACATATATATTATATATACATATATATTATATATACA TATATATTATATATACATATATATTATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787925	T T	TATATATT others(199): Show TATATATTATATATACATATATATTATATATACATATATATTATATATAT ACATATATATTATATATACATATATTATATATATACATATATATTATATA TACATATATATTATATATACATATATATTATATATATACATATATATTAT ATATACATATATATTATATATACATATATATTATATATACATATATATTA TATATAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0011 a0011	a0011c0031 a0011c0031	a0011c0031t0001 a0011c0031t0001	a0011c0031t0001g0054 a0011c0031t0001g0054	1	378	0.0027	206	c.277 others(223): Show c.277-1534_277-1533insATTATATATATACATATATATTATATAT ACATATATTATATATATACATATATATTATATATACATATATATTATATA TACATATATATTATATATATACATATATATTATATATACATATATATTAT ATATACATATATATTATATATACATATATATTATATATACATATATTATA TATACATATATATTATATATACATATAT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(199): Show TGTATATATATATATGTATATATATATGTATATATATGTATATATATATA TGTATATATATATGTATATATATATGTATATATATGTATATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATGTGTATA TATATGTATATATATATGTATATATATGTATATATATATATGTATATATA TATATAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0065 a0002c0003t0001g0065	1	410	0.0024	206	c.484 others(221): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATACATATATATACACATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATACATATATAT ACATATATATATACATATATATATACATATATATATATACATATATATAC ATATATATATACATATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(199): Show TGTATATATATATATGTATATATATATGTATATATATGTATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATATGTATA TATATATGTATATATATATGTATATATATATGTATATATATGTGTATATA TATGTATATATATATATGTATATATATGTATATATATATATGTATATATA TATATAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19091.hp2 NA18984.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0033 a0002c0003t0001 a0002c0003t0033	a0002c0003t0001g0082 a0002c0003t0033g0083 a0002c0003t0001g0082 a0002c0003t0033g0083	2	410	0.0049	206	c.484 others(221): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATACATATATATACATATATATAC ATATATATATACATATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(199): Show TGTATATATATATGTATATATATATGTATATATATGTATATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATATGTATA TATATATGTATATATATATGTATATATATATGTATATATATGTGTATATA TATGTATATATATATATGTATATATATGTATATATATATATGTATATATA TATATAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0073 a0002c0003t0001g0073	1	410	0.0024	206	c.484 others(221): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATACATATATAT ACATATATATATACATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSH3_chr5_80649652_80881815	80693151	A A	AGATAAAT others(199): Show AGATAAATATACATGCACATGTATATGTTTAGATAAATATACATGCACAT GTATATGTTTAGATAAATATACATGCACATGTATATGTTTAGATAAATAT ACATGCACATGTATATGTTTAGATAAATATACATGCACATGTATATGTTT AGATAAATATACATGCACATGTATATGTTTAGATAAATATACATGCACAT GTATATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0358 a0005c0006t0003g0358	1	362	0.0028	206	c.134 others(227): Show c.1340+14058_1340+14059insGATAAATATACATGCACATGTATA TGTTTAGATAAATATACATGCACATGTATATGTTTAGATAAATATACATG CACATGTATATGTTTAGATAAATATACATGCACATGTATATGTTTAGATA AATATACATGCACATGTATATGTTTAGATAAATATACATGCACATGTATA TGTTTAGATAAATATACATGCACATGTATATG	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23			chr5	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATACATAT others(199): Show ATACATATAAAATCTTTATATATATTTTATATATATAAAATCTTTATATA TATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTT TATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATAT ATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATA TATATTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0077 a0001c0001t0029g0077	1	330	0.0030	206	c.-5+ others(221): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTA AGATTTTATATATATAAAATATATATAAAGATTTTATATATATAAAATAT ATATAAAGATTTTATATATATAAAATATATATAAAGATTTTATATATATA AAATATATATAAAGATTTTATATGTA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATATAT others(199): Show ATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTTATATA TATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTT TATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATAT ATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATA TATATTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG06807.hp2 HG01884.hp2 HG02257.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0019 a0001c0006t0009 a0004c0005t0008 a0001c0001t0019 a0001c0006t0009 a0004c0005t0008	a0001c0001t0019g0078 a0001c0006t0009g0074 a0004c0005t0008g0075 a0001c0001t0019g0078 a0001c0006t0009g0074 a0004c0005t0008g0075	3	330	0.0091	206	c.-5+ others(221): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTA AGATTTTATATATATAAAATATATATAAAGATTTTATATATATAAAATAT ATATAAAGATTTTATATATATAAAATATATATAAAGATTTTATATATATA AAATATATATAAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAAGAAGA others(199): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAG AAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAGGAGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	294	0.0034	206	c.677 others(221): Show c.677+224_677+225insCCTCCTCCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MUSK_chr9_110663791_110811558	110681001	T T	TTATATTA others(199): Show TTATATTATATATTATATTATATTATATTATATATATTATATTATATATA TAATATTATATATATTATATATTATATAATATATTATATAATATATATTA TATAATATATATAATATTATATATATTATATAATATATATTATATATAAT ATATATTATATAATATATAATATATATAATATTATATATATAGTATAATA TATAATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0010 a0004c0024t0010	a0004c0024t0010g0042 a0004c0024t0010g0042	1	326	0.0031	206	c.80- others(221): Show c.80-1661_80-1660insTATATTATATTATATTATATATATTATATT ATATATATAATATTATATATATTATATATTATATAATATATTATATAATA TATATTATATAATATATATAATATTATATATATTATATAATATATATTAT ATATAATATATATTATATAATATATAATATATATAATATTATATATATAG TATAATATATAATATATATTATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA8_chr1_1347691_1363555	1351134	C C	CGGGGGGG others(199): Show CGGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGGA GTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGGAGTGAGGAGGGGGCCTGGA CGGGGCAGGAGCGACGGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	338	0.0030	206	c.24 others(217): Show c.2469_*2470insCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCAC TCCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCCG TCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCCGTCGCTCCTG CCCCGTCCAGGCCCCCTCCTCACTCCCCCCCGTCGCTCCTGCCCCGTCCA GGCCCCCTCCTCACTCCCCCCC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1556		chr1	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(199): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATATTATATATAATATATAATATATATTATATATAATATATA ATATATATTATATATTATAATATATAATATATATTATATATATAATATAT ATTATATATAATATATATTATATATATATAATATATATAATATATATTTT AAATATA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	334	0.0030	206	c.547 others(223): Show c.5473-422_5473-421insTATATTTAAAATATATATTATATATATT ATATATATATAATATATATTATATATAATATATATTATATATATAATATA TATTATATATTATAATATATAATATATATTATATATTATATATAATATAT ATTATATATTATATATAATATATATTATATATATAATATATATTATATAT ATTATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYT1_chr20_64159452_64247253	64173699	T T	TTGTAGTT others(199): Show TTGTAGTTGTGTCCATTTTCCCTCCCTGACTTCTCCTCCTGCAGCATCTT TCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCCT TCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCAT CTTTCCTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCAT CTTTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	223	0.0045	206	c.-99 others(223): Show c.-99+8977_-99+8978insTCCCTCCCTGACTTCTCCTCCTGCAGCA TCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCA TCCTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCA GCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174698	C C	CCTGTAGT others(199): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTGCAGCATCT TTCCCTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	223	0.0045	206	c.-99 others(223): Show c.-99+9959_-99+9960insCTGTAGTTGTGTCCATTTCCCCTCCCTG GCGTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCC TCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCC TCCCTGGCTTCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(199): Show CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	378	0.0027	206	c.148 others(225): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(199): Show CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTAC TGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	378	0.0027	206	c.148 others(225): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFV3_chr21_42888309_42918299	42894362	A A	ATATATAT others(199): Show ATATATATTATATATAATATATATTATATTAAATATATATAATATATATT ATATATAATATATATTATATATAATATATATTATATATAATATATATTAT ATATAATATATATTATATATAATATATATTATATATAATATATATTAAAT ATAATATATATAATATATATTAAATATAATATATATTAAATATAATATAT ATTATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0016 a0001c0001t0030g0016	2	348	0.0058	206	c.48+ others(219): Show c.48+988_48+989insTATATATAATATATATTATATTAAATATATAT AATATATATTATATATAATATATATTATATATAATATATATTATATATAA TATATATTATATATAATATATATTATATATAATATATATTATATATAATA TATATTAAATATAATATATATAATATATATTAAATATAATATATATTAAA TATAATATATATTATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEDD4L_chr18_58039226_58406539	58171438	G G	GCCCGCCT others(199): Show GCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTC ATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCA GCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGG GACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGATGACAGAACA CTGCTGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19060.hp2 homoSapiens_chm13v2.hp1 HG02056.hp1 NA19060.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0029 a0001c0005t0046 a0001c0001t0004 a0001c0001t0029 a0001c0005t0046	a0001c0001t0004g0062 a0001c0001t0029g0016 a0001c0005t0046g0071 a0001c0001t0004g0062 a0001c0001t0029g0016 a0001c0005t0046g0071	3	118	0.0254	206	c.122 others(223): Show c.122+5580_122+5581insGCCTCATCACCCCAGCCCAAGGGGACAG AACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCT GCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTC ATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCA GCCCAAGATGACAGAACACTGCTGCCCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCC others(199): Show CCCCCCCCTCTCCCCCCCTCCCCCACCTCTCCCCCTCTCCCCCCCTCCCC CCTCCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCC CTCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCTCCCCTCCCCTCCCCC CCTCCCCCTCCCCTCCCTCCCTCCCCCTCCCCCTCCCCTCCCTCCCTCCC CCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0013 a0002c0006t0013	a0002c0006t0013g0166 a0002c0006t0013g0166	1	350	0.0029	206	c.55 others(217): Show c.5595_*5596insCCCCCCCTCTCCCCCCCTCCCCCACCTCTCCCCC TCTCCCCCCCTCCCCCCTCCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCC CTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCT CCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCTCCCTCCCCCTCCCCCTC CCCTCCCTCCCTCCCCCTCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NTM_chr11_131365615_132341822	132069720	C C	CACTGACC others(199): Show CACTGACCGTCACAGGTTAGTTTACACGTCACACAGCCAAAACACGTCAA ACTGACCATCACAGGTTAGTTAACATGTCACACAGCCAAGTTAACACGTC AAACTGACGATCACAGGTTAGTTTACACGTCACACAGCCAAAACACGTCA AACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAAGTAAGTTAAC ACGTCAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	86	0.0116	206	c.168 others(225): Show c.168-76555_168-76554insGTCACAGGTTAGTTTACACGTCACAC AGCCAAAACACGTCAAACTGACCATCACAGGTTAGTTAACATGTCACACA GCCAAGTTAACACGTCAAACTGACGATCACAGGTTAGTTTACACGTCACA CAGCCAAAACACGTCAAACTGACCATCACAGGTTAGTTAACACGTCACAC AGCCAAGTAAGTTAACACGTCAAACTGACC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTSR1_chr20_62703836_62767771	62755413	T T	TCCATCCA others(199): Show TCCATCCATCCTCCCTCCCTCCCTCCCTCCATCCCTCCCTCCATCCATCC ATCCTCCCTCCCTCCCTCCATCCATCCTCCCTCCCTCTCTCCATCCCTCA TTCCATCCCTCCCCGATCCATCCCTCATTCCATCCCTCCCTCTCTCCCTC CCTCCATTCATCCATCCATTGTCCCTCCCTCCCTCCATCCATCCTCCCTC CTCTCTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0029 a0001c0001t0011g0029	1	316	0.0032	206	c.916 others(221): Show c.916+528_916+529insCATCCATCCTCCCTCCCTCCCTCCCTCCAT CCCTCCCTCCATCCATCCATCCTCCCTCCCTCCCTCCATCCATCCTCCCT CCCTCTCTCCATCCCTCATTCCATCCCTCCCCGATCCATCCCTCATTCCA TCCCTCCCTCTCTCCCTCCCTCCATTCATCCATCCATTGTCCCTCCCTCC CTCCATCCATCCTCCCTCCTCTCTCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(199): Show TCCCCCCGGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC CCCCCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0232 a0001c0004t0002g0232	1	242	0.0041	206	c.360 others(225): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGCGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGGGGGAGAGGAGGAGGCCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODAD3_chr19_11415605_11440121	11424965	A A	ATATATAC others(199): Show ATATATACCTATGTGTATATATACCTATGTGTATATATACCTATGTGTAT ATATACCTATGTGTATATATACCTATGTGTATATATACCTATGTGTATAT ATACCTATGTGTATATATACATATGTGTATATATACCTATGTGTATATAT ACATATGTGTATATATACCTATGTGTATATATACATATGTGTATATATAC CTATGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	398	0.0025	206	c.964 others(221): Show c.964-937_964-936insCACATAGGTATATATACACATATGTATATA TACACATAGGTATATATACACATATGTATATATACACATAGGTATATATA CACATATGTATATATACACATAGGTATATATACACATAGGTATATATACA CATAGGTATATATACACATAGGTATATATACACATAGGTATATATACACA TAGGTATATATACACATAGGTATATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OR11H4_chr14_20234286_20249349	20236553	A A	ATTATATA others(199): Show ATTATATAAATATATAGTATATATATTTATATTATATAAATATATAGTAT ATATATTTATATTATATAAATATATAGTATATATATTTATATTATATAAA TATATAGTATATATATTTATATTATATAAATATATAGTATATATATTTAT ATTATATAAATATATAGTATATATATTTATATTATATAAATATATAGTAT ATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	439	0.0023	206	c.-27 others(217): Show c.-2790_-2789insTTATATAAATATATAGTATATATATTTATATTAT ATAAATATATAGTATATATATTTATATTATATAAATATATAGTATATATA TTTATATTATATAAATATATAGTATATATATTTATATTATATAAATATAT AGTATATATATTTATATTATATAAATATATAGTATATATATTTATATTAT ATAAATATATAGTATATATATT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2732		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20236553	A A	ATTATATA others(199): Show ATTATATAAATATATAGTATATATATTTATATTATATAAATATATAGTAT ATATATTTATATTATATAAATATATAGTATATATATTTATATTATATAAA TATATAGTATATATATTTATATTATATAAATATATAGTATATATATTTAT ATTATATAAATATATAGTATATATATTTATATTATATAAATATATAGTAT ATATGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	439	0.0023	206	c.-27 others(217): Show c.-2790_-2789insTTATATAAATATATAGTATATATATTTATATTAT ATAAATATATAGTATATATATTTATATTATATAAATATATAGTATATATA TTTATATTATATAAATATATAGTATATATATTTATATTATATAAATATAT AGTATATATATTTATATTATATAAATATATAGTATATATATTTATATTAT ATAAATATATAGTATATATGTT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2732		chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83950364	C C	CACATGCA others(199): Show CACATGCACACATGAGCACATGCGCACACATGCACATACATACTGGCACA CGTACATGCACACATGAGCACATGTGCACACATGCACATACAGGCACACG TACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	350	0.0029	206	c.-30 others(217): Show c.-3039_-3038insACATGCACACATGAGCACATGCGCACACATGCAC ATACATACTGGCACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACAGGCACACGTACACGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2875		chr16	TogoVar
PABIR2_chrX_134764566_134802205	134788466	G G	GTGTAATA others(199): Show GTGTAATATATACACGTTATATATGTGTAATATATACACGTTATATATGT GTAATATATACACGTTATATATGTGTAATATATACACGTTATATATGTGT AATATATACACGTTATATATGTGTAATATATACACGTTATATATGTGTAA TATATACACGTTATATATGTTATATATGTTATATATGTGTTATATATACG TTATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0146	3	217	0.0138	206	c.435 others(221): Show c.435+263_435+264insTATATAACGTATATATAACACATATATAAC ATATATAACATATATAACGTGTATATATTACACATATATAACGTGTATAT ATTACACATATATAACGTGTATATATTACACATATATAACGTGTATATAT TACACATATATAACGTGTATATATTACACATATATAACGTGTATATATTA CACATATATAACGTGTATATATTACA	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PACRG_chr6_162722974_163320500	163004737	T T	TATATACA others(199): Show TATATACAGAGCAATGAAAGCTCTGAAATTTTATATATATATAAAACATA GTTATACATGTTATATATATACAACATAGTTATACGTGTTATATATATAC AACATAGTTATACGTGTTATATATATACAACAGTTATACGTGTTATATAT ATACAACGTAGTTATACGTGTTATATATATAACATGTATATATATATATA TACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 NA18522.hp1 HG02109.hp2 HG02559.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0013 a0001c0003t0003 a0001c0001t0002 a0001c0001t0013 a0001c0003t0003	a0001c0001t0002g0003 a0001c0001t0013g0013 a0001c0003t0003g0065 a0001c0001t0002g0003 a0001c0001t0013g0013 a0001c0003t0003g0065	3	130	0.0231	206	c.292 others(225): Show c.292-57412_292-57411insTATACAGAGCAATGAAAGCTCTGAAA TTTTATATATATATAAAACATAGTTATACATGTTATATATATACAACATA GTTATACGTGTTATATATATACAACATAGTTATACGTGTTATATATATAC AACAGTTATACGTGTTATATATATACAACGTAGTTATACGTGTTATATAT ATAACATGTATATATATATATATACACACA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(199): Show CAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAA GAAAGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0194 a0005c0010t0001g0194	1	342	0.0029	206	c.20- others(221): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741324	C C	CGCGGGGG others(199): Show CGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGG GGGGCTG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0073 a0001c0002t0073	a0001c0002t0073g0293 a0001c0002t0073g0293	1	358	0.0028	206	c.143 others(221): Show c.143-335_143-334insGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTC GCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGG GGGGCTGGCGGGGGGCTGGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(199): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC CTCCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTTCCCCTCCCCTC CCCCCTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0291 a0001c0001t0081g0291	1	320	0.0031	206	c.218 others(225): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCT CCCATCCCCCTCCCATCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCCCT CCCCCCTTCCCCTCCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(199): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	342	0.0029	206	c.-66 others(225): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(199): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0093 a0003c0003t0002g0093	1	346	0.0029	206	c.200 others(225): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKP3_chr11_389209_409908	401948	G G	GCCCCGCT others(199): Show GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGACCCGCTCACCC CCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGC CCCGCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0156 a0001c0003t0001g0156	1	216	0.0046	206	c.173 others(225): Show c.1738-1130_1738-1129insCCCCGCTCACACCCGACCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGC CCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCC GCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCA CCCCGGGCCCCGCTCACACCCGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)