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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⚠️ 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
OR11H4_chr14_20234286_20249349	20237063	T T	TAAAATAT others(197): Show TAAAATATATACCACATATTACACGTGGCACATATAAAATATATACCACA TATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCACA TATAAAATATATACCACATATTACACGTGGCACATATAAAATATATACCA CATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCA CATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	439	0.0023	204	c.-22 others(215): Show c.-2280_-2279insAAAATATATACCACATATTACACGTGGCACATAT AAAATATATACCACATATTACACGTGGCACATATAAAATATATACCACAT ATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCACAT ATAAAATATATACCACATATTACACGTGGCACATATAAAATATATACCAC ATATTACACGTGGCACATAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2222		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237077	T T	CATATTAC others(197): Show CATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCA CATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATAC CACATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGG CACATATAAAATATATACCACATATTACACGTGGCACATATAAAATATAT ACCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01361.hp1 HG01175.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0192 a0001c0001t0002g0052 a0001c0001t0002g0192	2	439	0.0046	204	c.-22 others(215): Show c.-2267_-2266insCATATTACACGTGGCACATATAAAATATATACCA CATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCA CATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATAC CACATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGG CACATATAAAATATATACCA	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2209		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237780	T T	TAGTATAT others(197): Show TAGTATATAGTACATATAGTATATATAGTATATATAGTATATAGTACATA TAGTATATATAGTATATATAGTATATAGTATATATTTTATAGTATATATA GTATATATACTATATAGTATATATTATATAGTATATATACTATATAGTAT ATATTATATAGTATATATACTATAAAGTACATAATTTATATATTACATAT AATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	439	0.0023	204	c.-15 others(215): Show c.-1563_-1562insAGTATATAGTACATATAGTATATATAGTATATAT AGTATATAGTACATATAGTATATATAGTATATATAGTATATAGTATATAT TTTATAGTATATATAGTATATATACTATATAGTATATATTATATAGTATA TATACTATATAGTATATATTATATAGTATATATACTATAAAGTACATAAT TTATATATTACATATAATAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1505		chr14	TogoVar
OR1F1_chr16_3183204_3211556	3197841	A A	AGGAGAGG others(197): Show AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0089 a0002c0002t0004g0089	1	328	0.0031	204	c.-12 others(221): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR2T6_chr1_248370746_248396811	248383020	C C	CTCCTGAA others(197): Show CTCCTGAAGTGTTTCCTAGTGTTATCATCATGGGTAAAGCACTGCACTAG CCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATG GAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCTGAAGTGTTT CCTAATGTTATCATCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCA TCCTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02723.hp2 NA20129.hp2 others(1): Show HG00741.hp2 HG02723.hp2 NA20129.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0013 a0002c0005t0013	a0002c0005t0013g0018 a0002c0005t0013g0018	4	403	0.0099	204	c.-15 others(223): Show c.-158-1659_-158-1658insGTAAAGCACTGCACTAGCCTGAGTGT GCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATGGAGAAAGCA CTGCACTAGCCTGAGTGTGCTCATCCTCTCCTGAAGTGTTTCCTAATGTT ATCATCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCT GAAGTGTTTCCTAGTGTTATCATCATGG	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248383182	A A	ATCATGGA others(197): Show ATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCTGAA GTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGTG TGCTCATCCTATCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGC ACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGT TATCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0092 a0003c0003t0003g0092	1	403	0.0025	204	c.-15 others(223): Show c.-158-1496_-158-1495insCTCATCCTCTCCTGAAGTGTTTCCTA ATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCATCCT ATCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAG CCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCGTCATG GAGAAAGCACTGCACTAGCCTGAGTGTG	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248383428	A A	ATCCTGAA others(197): Show ATCCTGAAGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAG CCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAATGTTATTGTCATG GGTAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCTGAAGTGTTT CCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCA TCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00642.hp2 others(7): Show HG00099.hp2 HG00280.hp1 HG00642.hp2 HG01261.hp2 HG01433.hp1 HG02698.hp1 HG03225.hp1 HG03942.hp2 NA18966.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0078 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0078 a0001c0001t0001g0082	10	403	0.0248	204	c.-15 others(223): Show c.-158-1198_-158-1197insATGTTATTGTCATGGGTAAAGCACTG CACTAGCCTGAGTGTGCTCATCCTCTCCTGAAGTGTTTCCTAGTGTTATC ATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCTGAA GTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTG TGCTCATCCTATCCTGATGTGTTTCCTA	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248384047	A A	AGTGTTTC others(197): Show AGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGT GTGCTCATCCTATCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAG CACTGCATTAGCCTGAGTGTGTTCATCCTCTCCTGAAGTGTTTCCTAATG TTATTGTCATGGGTAAAGCACTGCACTACCCTGAGTGTGCTCATCCTATC CTGAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02809.hp1 HG03139.hp1 others(2): Show HG01243.hp2 HG02809.hp1 HG03139.hp1 HG06807.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0010 a0005c0007t0016 a0001c0001t0010 a0005c0007t0016	a0001c0001t0010g0022 a0005c0007t0016g0032 a0005c0007t0016g0066 a0001c0001t0010g0022 a0005c0007t0016g0032 a0005c0007t0016g0066	5	403	0.0124	204	c.-15 others(221): Show c.-158-654_-158-653insATGTTATTGTCATGGGTAAAGCACTGCA CTAGCCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCCTAATGTTATTGT CATGGGTAAAGCACTGCATTAGCCTGAGTGTGTTCATCCTCTCCTGAAGT GTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTACCCTGAGTGTG CTCATCCTATCCTGATGTGTTTCCTA	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248384278	T T	TAAAGCAC others(197): Show TAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCTTGAAGTGTTTCC TAATGTTATTGTCATGGGTAAAGCACTGCATTAGCCTGAGTGTGCTCATC CTATCCTGATGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACT AGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCA TGGAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	403	0.0025	204	c.-15 others(221): Show c.-158-400_-158-399insCTCTTGAAGTGTTTCCTAATGTTATTGT CATGGGTAAAGCACTGCATTAGCCTGAGTGTGCTCATCCTATCCTGATGT GTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTG CTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATGGAGAAAGCAC TGCACTAGCCTGAGTGTGCTCATCCT	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(197): Show TTATATTATATATATTATATATATTATATATATAATATATATTATATATA TTATATATAATATATATAATATATATTATATATATTATATATAATATATA TTATATATAATATATATAATATATATTATATATATTATATATTATATATA ATATATATAATATATATTATATATATTATATATAATATATATAATATATA TTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	204	c.-23 others(215): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATAATATA TATTATATATATTATATATAATATATATAATATATATTATATATATAATA TATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(197): Show TTATATTATATATATTATATATATTATATATATTATATATATAATATATA TTATATATATTATATATAATATATATTATATATAATATATATAATATATA TTATATATAATATATATAATATATATTATATATAATATATATTATATATA ATATATATAATATATATTATATATATTATATATAATATATATAATATATA TTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19066.hp1 NA19090.hp2 NA19065.hp2 NA19066.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	450	0.0067	204	c.-23 others(215): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATATTATATATAATATA TATTATATATATTATATATAATATATATTATATATATTATATATAATATA TATTATATATAATATATATAATATATATTATATATATAATATATATAATA TATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(197): Show TTATATTATATATATTATATATATTATATATATTATATATATAATATATA TTATATATATTATATATAATATATATTATATATATTATATATAATATATA TTATATATAATATATATAATATATATTATATATAATATATATAATATATA ATATATATAATATATATTATATATATTATATATAATATATATAATATATA TTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0000 a0001c0005t0001g0000	1	450	0.0022	204	c.-23 others(215): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATTATATATATTATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATAATATA TATTATATATAATATATATAATATATATTATATATATAATATATATAATA TATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(197): Show TTATATTATATATATTATATATATTATATATATTATATATATAATATATA TTATATATATTATATATAATATATATTATATATATTATATATAATATATA TTATATATAATATATATAATATATATTATATATAATATATATTATATATA ATATATATAATATATATTATATATATTATATATAATATATATAATATATA TTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18955.hp2 NA18997.hp1 NA18940.hp1 NA18955.hp2 NA18997.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0000 a0001c0005t0001g0000	3	450	0.0067	204	c.-23 others(215): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATATTATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATAATATA TATTATATATAATATATATAATATATATTATATATATAATATATATAATA TATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(197): Show GGAGAGACGAGGAGGTGGGGGAGAGTGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGAGAGACGAGGAGGTGGGGGAGGGGGGGAGGGGGGGAGAGGGA GGAAGGGGTTAGGGGAAGAGGGAGAGGAGAGAGAGGGAGTAAAGGGGAGG GGGGGAGAGAGAGACGGGGGGAGAGAGAGGGAGAAAAGGAGAGGGGGGAG AGAGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04184.hp2 HG03834.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0064 a0002c0003t0001g0065 a0001c0002t0001g0064 a0002c0003t0001g0065	2	186	0.0108	204	c.537 others(223): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCC CTCCCCCACCTCCTCGTCTCTCCCCCCCTCCCCCACCTCCTCGTCTCTCC CCCACTCTCCCCCACCTCCTCGTCTCTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
PADI4_chr1_17303197_17369004	17351984	G G	GGTGGGAG others(197): Show GGTGGGAGGAGAGGCGGCCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCA GTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGG GAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGG CAGTCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGT GGGAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0213 a0013c0019t0001g0213	1	372	0.0027	204	c.115 others(223): Show c.1156-2548_1156-2547insTGGGAGGAGAGGCGGCCAGGGAGGTG ATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGA GAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGG TGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGAGAGGC AGTCAGGGAGGTGATGGGAGGTGGGAAG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PARD3B_chr2_204540475_205625162	205380577	A A	ATATATAT others(197): Show ATATATATTATATATAATATATAAAGAATATATATTATATATAATATATA AAGAATATATATTATATATAATATATAAAGTATATATTATATATAATATA TAAAGTATATATTATATATAATATATAAAGTATATATTATATATAATATA TAAAGTATATATTATATATAATATATAAAGTATATATTATATATAATATA TAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0005	1	54	0.0185	204	c.263 others(225): Show c.2631-20394_2631-20393insATATATAAAGAATATATATTATAT ATAATATATAAAGTATATATTATATATAATATATAAAGTATATATTATAT ATAATATATAAAGTATATATTATATATAATATATAAAGTATATATTATAT ATAATATATAAAGTATATATTATATATAATATATAAAGTATATATTATAT ATAATATATAAAGAATATATATTATATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARVG_chr22_44175925_44213469	44198953	T T	TCCATCCA others(197): Show TCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACC CACCCACCCACCCATCCACCCACCCACCCACCCACCCATCCACCCACCCA CCCACCCACCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACC CACCCATCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCA CCCAC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0154 a0001c0001t0004g0155	2	422	0.0047	204	c.813 others(219): Show c.813+266_813+267insCCCACCCACCCACCCACCCACCCACCCATC CACCCACCCACCCACCCACCCATCCACCCACCCACCCACCCACCCATCCA TCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCACCCACC CACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCA TCCATCCATCCATCCATCCATCCA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0238 a0003c0004t0001g0244 a0003c0004t0001g0238 a0003c0004t0001g0244	2	268	0.0075	204	c.242 others(225): Show c.2421+74400_2421+74401insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0124 a0001c0001t0001g0130	2	272	0.0074	204	c.242 others(225): Show c.2424+66110_2424+66111insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0043 a0003c0003t0001g0269 a0003c0003t0001g0043 a0003c0003t0001g0269	2	270	0.0074	204	c.242 others(225): Show c.2424+61048_2424+61049insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0245 a0002c0002t0001g0247	2	274	0.0073	204	c.251 others(225): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 homoSapiens_chm13v2.hp1 HG00280.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0125 a0001c0002t0001g0128	2	292	0.0069	204	c.242 others(225): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0285 a0001c0002t0001g0280 a0001c0002t0001g0285	2	292	0.0069	204	c.242 others(225): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 homoSapiens_chm13v2.hp1 HG00280.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0171 a0001c0001t0001g0174	2	292	0.0069	204	c.242 others(225): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0014 a0001c0001t0001g0029	2	302	0.0066	204	c.242 others(225): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0277 a0001c0005t0001g0278 a0001c0005t0001g0277 a0001c0005t0001g0278	2	302	0.0066	204	c.242 others(223): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0011 a0002c0004t0001g0028 a0002c0004t0001g0011 a0002c0004t0001g0028	2	278	0.0072	204	c.240 others(225): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 homoSapiens_chm13v2.hp1 HG00280.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0274 a0003c0003t0001g0276 a0003c0003t0001g0274 a0003c0003t0001g0276	2	288	0.0069	204	c.242 others(225): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0286 a0003c0003t0001g0291 a0003c0003t0001g0286 a0003c0003t0001g0291	2	296	0.0068	204	c.241 others(225): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0004 a0001c0001t0001g0016	2	294	0.0068	204	c.239 others(225): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0013 a0001c0001t0002g0014	2	300	0.0067	204	c.239 others(223): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(197): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 homoSapiens_chm13v2.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0140 a0002c0003t0001g0181 a0002c0003t0001g0140 a0002c0003t0001g0181	2	302	0.0066	204	c.-71 others(213): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TATAGATG others(197): Show TATAGATGTATCTATCGATAGATAGATGTATCTATCAATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	436	0.0023	204	c.-26 others(215): Show c.-2641_-2640insCTATCGATAGATACATCTATCTATCGATAGATAC ATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTAT CGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATAC ATCTATCTATCGATAGATACATCTATCTATCTATTGATAGATACATCTAT CTATCGATAGATACATCTAT	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2175		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(197): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATGTATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	436	0.0023	204	c.-26 others(215): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCGATAGATACATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(197): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG01884.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	436	0.0046	204	c.-26 others(215): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCNT_chr21_46319156_46450769	46384085	G G	GTGTTGTG others(197): Show GTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGT GGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCA CGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCA GTGGCAGAAGCGCATTCACGGTGTTGTATATTCAGTGGCGGAAGCGCATT CACCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03654.hp2 HG02698.hp2 HG03654.hp2	a0002 a0017 a0002 a0017	a0002c0002 a0017c0031 a0002c0002 a0017c0031	a0002c0002t0001 a0017c0031t0001 a0002c0002t0001 a0017c0031t0001	a0002c0002t0001g0063 a0017c0031t0001g0064 a0002c0002t0001g0063 a0017c0031t0001g0064	2	332	0.0060	204	c.331 others(223): Show c.3313-1741_3313-1740insGCGTTCAGTGGCAGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTC ACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTATATTC AGTGGCGGAAGCGCATTCACCATGTTGT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK2_chr20_17222040_17489578	17449526	G G	GTGTATAT others(197): Show GTGTATATATATATATATGTATGTATGTATATATATATATATATGTATGT ATGTATATATATATATATATGTATGTATGTATGTATATATATATATATGT ATGTATGTATGTATATATATATATATGTATGTATGTGTATATATATATAT ATATATGTATGTATGTGTATATATATATATATATATGTATGTATGTATAT ATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0133 a0001c0001t0050g0133	1	274	0.0037	204	c.886 others(221): Show c.886-4215_886-4214insGTATATATATATATATGTATGTATGTAT ATATATATATATATGTATGTATGTATATATATATATATATGTATGTATGT ATGTATATATATATATATGTATGTATGTATGTATATATATATATATGTAT GTATGTGTATATATATATATATATATGTATGTATGTGTATATATATATAT ATATATGTATGTATGTATATATATAT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PDXK_chr21_43714129_43767299	43741407	G G	GGGGGGCT others(197): Show GGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGG CTCGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0084 a0001c0002t0041g0084	1	358	0.0028	204	c.143 others(219): Show c.143-255_143-254insCTGGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGG GGCTGGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAM5_chr12_132705842_132727734	132727539	C C	CGCTCCGG others(197): Show CGCTCCGGGCGGAGGAGAGGGCATTGCTGAACCCTGGCACCTGCGGGCAC ATGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGGCA CACGCGCCCGGGTGGAGGAGAGGCACTGCTGAACCCTGGCACCGCGGGCA CACGCGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCA CACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0046 a0001c0002t0017g0046	1	394	0.0025	204	c.67 others(215): Show c.6711_*6712insGCTCCGGGCGGAGGAGAGGGCATTGCTGAACCCT GGCACCTGCGGGCACATGCGCCCGGACGGAGGAGACGCACTGCTGAACCC TGGCACCGTGGGGCACACGCGCCCGGGTGGAGGAGAGGCACTGCTGAACC CTGGCACCGCGGGCACACGCGCCCGGATGGAGGAGATGCACTGCTGAACC CTGGCACCGTGGGCACACGT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4806		chr12	TogoVar
PGAP6_chr16_365788_386978	378516	T T	TGCCATCG others(197): Show TGCCATCGCCACCCTGACTGCCATCGCCACCCACACTGCCATCCCCACCC GCACTGCCATCGCCACCCTGACTGCCATCGCCACCCACAATGCCATCCCC ACCCGCACTGCCATCGCCACCCGCACTGCCATCCCCACCCGCACTGCCAT CGCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCACACTG CCATC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18959.hp2 HG00558.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0002 a0001c0030t0003 a0001c0001t0002 a0001c0030t0003	a0001c0001t0002g0094 a0001c0030t0003g0113 a0001c0001t0002g0094 a0001c0030t0003g0113	2	376	0.0053	204	c.122 others(219): Show c.122-669_122-668insGATGGCAGTGTGGGTGGCGATGGCAGTGCG GGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAG TGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCATTGTGGGTGGCGATG GCAGTCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGTGGGTGGC GATGGCAGTCAGGGTGGCGATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGGHG_chr11_284126_301107	294512	A A	ACCCCAGG others(197): Show ACCCCAGGCTGTCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCT CCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCCCTCTCACCCCCAG GCTGCCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCCCCTCACC CCCAGACTGCCCTCTCACCCCCAGGCTGTCCCTCACCCCCAGACTGCCCT CTCAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0056 a0002c0003t0002g0056	1	450	0.0022	204	c.202 others(219): Show c.2021-34_2021-33insTCCCTCACCCCCAGACTGCCCTCTCACCCC CAGGCTGCTCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCCCTCT CACCCCCAGGCTGCCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTG CCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGTCCCTCACCCCCA GACTGCCCTCTCACCCCCAGGCTG	PGGHG	ENSG00000142102.16	transcript	ENST00000409548.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIAS4_chr19_4002736_4044386	4036040	A A	ACACACAC others(197): Show ACACACACAATCCATACAGTCCACAACATCACAGACACACATCCATATAG TCCACACGCATCCATACAGTCCACACCATCACACGCACACATCCATACAG TCCACACCATCACACACACTCATCTATACAGTCCACACCATCACACACAC ACATCCATACAGTCCACACCATCACACACACACTCATCTATACAGTCCAC ACCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18964.hp1 HG00438.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0158 a0001c0001t0021g0117 a0001c0001t0001g0158 a0001c0001t0021g0117	2	334	0.0060	204	c.114 others(223): Show c.1143-1334_1143-1333insCACACACAATCCATACAGTCCACAAC ATCACAGACACACATCCATATAGTCCACACGCATCCATACAGTCCACACC ATCACACGCACACATCCATACAGTCCACACCATCACACACACTCATCTAT ACAGTCCACACCATCACACACACACATCCATACAGTCCACACCATCACAC ACACACTCATCTATACAGTCCACACCAT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10			chr19	TogoVar
PKIA_chr8_78511340_78610267	78524024	T T	TTATATAT others(197): Show TTATATATATAAATATATATAAACATTTATATATATAAATATATATAAAC ATTTATATATATAAATATATATAAACATTTATATATATAAATATATATAA ATATATATAAACGTTTATATATATAAATATATATAAACGTTTATATATAT AAATATATAAACGTTTATATATATAAATATATATAAACGTTTATATATAT TTATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	186	0.0054	204	c.-15 others(223): Show c.-157+7562_-157+7563insTATAAATATATATAAACATTTATATA TATAAATATATATAAACATTTATATATATAAATATATATAAACATTTATA TATATAAATATATATAAATATATATAAACGTTTATATATATAAATATATA TAAACGTTTATATATATAAATATATAAACGTTTATATATATAAATATATA TAAACGTTTATATATATTTATATATATA	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36275948	T T	TTTTCTTT others(197): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0373 a0003c0006t0001g0373	1	386	0.0026	204	c.205 others(221): Show c.205+5311_205+5312insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLB_chr8_42333494_42376808	42347249	G G	GGAATTAC others(197): Show GGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGT AATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATTATT CTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCA GTAATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATTA TTCTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp2 others(36): Show HG00323.hp2 HG00438.hp1 HG00544.hp2 HG01074.hp1 HG01081.hp2 HG01192.hp2 HG01257.hp2 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02055.hp2 HG02135.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02723.hp1 HG02738.hp2 HG03017.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG06807.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18984.hp2 NA19010.hp1 NA19056.hp1 NA19058.hp1 NA19068.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0140 others(34): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0286 a0001c0003t0001g0175 a0001c0003t0001g0207	39	314	0.1242	204	c.187 others(221): Show c.187-1764_187-1561dupATTACTCCTCAGTAATTCTAGAAATTAT TCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTC AGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATT ATTCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCC TCAGTAATTCTAGAAATTATTCTAGA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2D_chr10_131896008_131964834	131916723	A A	AGGTGGAA others(197): Show AGGTGGAATGACACAACGTTTGTAGGGACCTCAGGCGGGTGGAATGACAC AGTGTAGGGACCTCAGGTGGGTGGAATGACACAGTGTAGGGACCTCACGT GGGTGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTG TTTGTAGGGACCTCACACGGGTGGAATGACACAGTGTTTGCAGGGACCTC ACGTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19043.hp2 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0252 a0001c0001t0025g0253 a0001c0001t0025g0252 a0001c0001t0025g0253	2	394	0.0051	204	c.100 others(223): Show c.100+15395_100+15396insTGGAATGACACAACGTTTGTAGGGAC CTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCAGGTGGGTGGAATGA CACAGTGTAGGGACCTCACGTGGGTGGAATGACACAGTGTAGGGACCTCA GGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCACACGGGTGGAATGA CACAGTGTTTGCAGGGACCTCACGTGGG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R5C_chr14_101756709_101932977	101782627	C C	CCCCTTCC others(197): Show CCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCC TCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCC CTTCCCTCTCTCTCCCCTCTGTCTCTTTCTCCCCCCCTTTCCACTTTCTC TCTTTCTCCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCTTCCCTCTCTCC CCCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0011 a0002c0002t0008g0011	1	138	0.0073	204	c.94- others(219): Show c.94-3374_94-3373insTCCCCCTTCCCCTCCCTCTCTCCCCCTTCC CCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTC CCCTTCCCTCTCTCTCCCCTCTGTCTCTTTCTCCCCCCCTTTCCACTTTC TCTCTTTCTCCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCTTCCCTCTCT CCCCCTTCCCTTCCCCTCCCTCTC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101918477	G G	GCCCCCCA others(197): Show GCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCA TCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCCACCCCTCAGCCTT CTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTC CCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCT CTCGC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03834.hp1 HG04115.hp2 others(1): Show HG02735.hp1 HG03834.hp1 HG04115.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0019 a0001c0003t0002 a0001c0001t0002 a0001c0001t0019 a0001c0003t0002	a0001c0001t0002g0028 a0001c0001t0019g0116 a0001c0003t0002g0079 others(1): Show a0001c0001t0002g0028 a0001c0001t0019g0116 a0001c0003t0002g0079 a0001c0003t0002g0112	4	138	0.0290	204	c.160 others(221): Show c.1608+636_1608+637insCGCCCCCCTCATCCCCCTCGCTCCTCTC GCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTC ATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCCACCCCTCAGCCT TCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCT CCCCCCACCCCTCAGCCTTCTCCCCT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101918477	G G	GCCCCCCA others(197): Show GCCCCCCACCCCTCCCCCGACCCCTCAGCCTTCTCCCCTCACCCCCCTCA TCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCCACCCCTCAGCCTT CTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTC CCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCT CTCGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0080 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0080	3	138	0.0217	204	c.160 others(221): Show c.1608+547_1608+548insGACCCCTCAGCCTTCTCCCCTCACCCCC CTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCCACCCCTCAG CCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACC CCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGC TCCTCTCGCCCCCCCACCCCTCCCCC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKAG2_chr7_151551127_151882115	151821039	C C	CAGCCAGA others(197): Show CAGCCAGAAGGAAAGTAGAAGAGAGCCTCCAACCTCACAGACCTCAGTCC CGGCCAGAAGGAAAGTAGAAGAGAGAGCCTCCAACCCCACAGACCTCAGT CCCGGCCAGAAGGAAAGTAGAAGAGAGAGCCTCCAACCCCACGGACCTCA GTCCCGGCCAGAAGGAAAGTAGAAGAGAGCCTCCAACCTCACAGACCTCA GTCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03098.hp1 HG03491.hp1 others(3): Show HG02071.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp1 HG03927.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0010 others(1): Show a0001c0001 a0001c0007 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 a0001c0010t0024 a0002c0004t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0004g0226 others(3): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0004g0226 a0001c0007t0001g0045 a0001c0010t0024g0162 a0002c0004t0001g0023	6	252	0.0238	204	c.115 others(223): Show c.115-34499_115-34498insAGGACTGAGGTCTGTGAGGTTGGAGG CTCTCTTCTACTTTCCTTCTGGCCGGGACTGAGGTCCGTGGGGTTGGAGG CTCTCTCTTCTACTTTCCTTCTGGCCGGGACTGAGGTCTGTGGGGTTGGA GGCTCTCTCTTCTACTTTCCTTCTGGCCGGGACTGAGGTCTGTGAGGTTG GAGGCTCTCTTCTACTTTCCTTCTGGCT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar

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Search Results (Total: 10000 hits)