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
NFATC1_chr18_79390930_79534323	79400824	A A	ACCCCTCC others(103): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCGACCTCCCCCCCGCGCCCCGACCTCCC CCCGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0187 a0002c0002t0003g0187	1	322	0.0031	110	c.127 others(127): Show c.127+4477_127+4478insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTCCCCC CCGCGCCCCGACCTCCCCCCGCCCCCCTCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFIA_chr1_61077561_61467788	61466708	T T	TATATACA others(103): Show TATATACATATATATACATATATATATACATATATATACATATATATACA TATATATATACATATATATACATATATATACATATATATACATATATATA CATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0047 a0001c0001t0008g0047	1	156	0.0064	110	c.11 others(123): Show c.11388_*11389insATATACATATATATACATATATATATACATAT ATATACATATATATACATATATATATACATATATATACATATATATACAT ATATATACATATATATACATATATATAC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3921		chr1	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(103): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG02027.hp2 HG00558.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0081 a0001c0001t0045g0146 a0001c0001t0045g0081 a0001c0001t0045g0146	2	366	0.0055	110	c.47 others(119): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995422	C C	CTATATAC others(103): Show CTATATACAGTATGTATACTGTATACTATATACAGTATGTATACTGTATA CTATATACAGTATGTATACTGTATACTATATACAGTATGTATACTGTATA TATATACAGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp2 HG02280.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0016 a0001c0005t0001 a0001c0001t0016 a0001c0005t0001	a0001c0001t0016g0238 a0001c0005t0001g0239 a0001c0001t0016g0238 a0001c0005t0001g0239	2	362	0.0055	110	c.-75 others(129): Show c.-75+17645_-75+17646insTACTGTATATATATACAGTATACATA CTGTATATAGTATACAGTATACATACTGTATATAGTATACAGTATACATA CTGTATATAGTATACAGTATACATACTGTATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159540	T T	TATATATA others(103): Show TATATATATATGCATATATATATATGCATATATATATATGCATATATATA TATGCATATATATATATGCATATATATATATGCATATATATATATGCATA TATATATATGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0013 a0001c0001t0001g0014	2	350	0.0057	110	c.-1+ others(124): Show c.-1+1179_1-1178insGCATATATATATATGCATATATATATATGCA TATATATATATGCATATATATATATGCATATATATATATGCATATATATA TATGCATATATATATATGCATATATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159552	C C	CATATATA others(103): Show CATATATATATATGCATATATATATATGCATATATATATGCATATATATA TATGCATATATATATATGCATATATATATATGCATATATATATGCATATA TATATATGCAT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	350	0.0029	110	c.-1+ others(125): Show c.-1+1167_-1+1168insATGCATATATATATATGCATATATATATGC ATATATATATATGCATATATATATATGCATATATATATATGCATATATAT ATGCATATATATATATGCATATATATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NHSL1_chr6_138417043_138504494	138437345	C C	CACATATA others(103): Show CACATATATATATACACATATATATATACACATATATATATACACATATA TATATATACACATATATATATACACATATATATATATACACATATATATA TATACACATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02148.hp2 HG01934.hp1 HG02148.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0048 a0001c0020t0049 a0001c0020t0048 a0001c0020t0049	a0001c0020t0048g0103 a0001c0020t0049g0104 a0001c0020t0048g0103 a0001c0020t0049g0104	2	332	0.0060	110	c.665 others(127): Show c.665-3666_665-3665insATATGTGTATATATATATATGTGTATAT ATATATATGTGTATATATATATGTGTATATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGT	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	5/7			chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62870223	T T	TATCTATA others(103): Show TATCTATATATATAGATATCTATAGATATCTATATCTATATCTATATATA GATATCTATAGATATCTATATCTATATCTATATATAGATATCTATAGATA TCTATATCTAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0083 a0002c0003t0083	a0002c0003t0083g0139 a0002c0003t0083g0139	1	144	0.0069	110	c.472 others(129): Show c.472-48219_472-48218insTAGATATCTATAGATATCTATATCTA TATCTATATATAGATATCTATAGATATCTATATCTATATCTATATATAGA TATCTATAGATATCTATATCTAGATCTATATATA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NLGN4X_chrX_5885042_6233867	6049227	A A	AAGGGGAA others(103): Show AAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18945.hp1 NA19082.hp1 HG02040.hp1 NA18945.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0001g0017 a0001c0001t0001g0078 a0001c0001t0001g0120	3	128	0.0234	110	c.473 others(129): Show c.473-19796_473-19795insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLRP5_chr19_55994726_56066810	55998710	G G	GTATATAT others(103): Show GTATATATATATATATGTGTGTATATATATATATGTGTGTATATATATAT ATGTGTGTATATATATATGTGTGTATATATATATGTGTATATATATATGT GTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0118 a0003c0118	a0003c0118t0001 a0003c0118t0001	a0003c0118t0001g0357 a0003c0118t0001g0357	1	396	0.0025	110	c.-10 others(121): Show c.-1016_-1015insTATATATATATATATGTGTGTATATATATATATG TGTGTATATATATATATGTGTGTATATATATATGTGTGTATATATATATG TGTATATATATATGTGTATATATATA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		1015		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993412	C C	CCCCTCCC others(103): Show CCCCTCCCCCCCCTCCCCCCTCTCCCCCCCCTCTCCCCCCCTCTCCCCCC CTCTCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCCCC TCTCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0011 a0000c0008t0011	a0000c0008t0011g0074 a0000c0008t0011g0074	1	350	0.0029	110	c.54 others(121): Show c.5499_*5500insCCCTCCCCCCCCTCCCCCCTCTCCCCCCCCTCTC CCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTC CCCCCCTCTCCCCCCTCTCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4784		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132155781	C C	CTACACGC others(103): Show CTACACGCACACAGTACACACACCACTACACACACTACACACACCACTAC ACACACTACACCACTACACACACCACTACACACACTACACGCACACAGTA CACACACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	294	0.0034	110	c.33 others(121): Show c.3380_*3381insTACACGCACACAGTACACACACCACTACACACAC TACACACACCACTACACACACTACACCACTACACACACCACTACACACAC TACACGCACACAGTACACACACCACT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		3314		chr12	TogoVar
NOC4L_chr12_132139457_132157468	132156783	C C	CACCACTA others(103): Show CACCACTACACACTACACACACACCACTACACACTACACACACAACACAC AACCACTATACACACACTACACACACCACTACACGCACACACTACACACA CTACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	294	0.0034	110	c.43 others(121): Show c.4382_*4383insACCACTACACACTACACACACACCACTACACACT ACACACACAACACACAACCACTATACACACACTACACACACCACTACACG CACACACTACACACACTACACACACA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4316		chr12	TogoVar
NOC4L_chr12_132139457_132157468	132156783	C C	CACCACTA others(103): Show CACCACTACACACTACACACACACCACTACACACTACACACACACAACAC ACAACCACTATACACACACTACACACACCACTACACGCACACTACACACA CTACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	294	0.0034	110	c.43 others(121): Show c.4382_*4383insACCACTACACACTACACACACACCACTACACACT ACACACACACAACACACAACCACTATACACACACTACACACACCACTACA CGCACACTACACACACTACACACACA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4316		chr12	TogoVar
NOC4L_chr12_132139457_132157468	132156783	C C	CACCACTA others(103): Show CACCACTACACACTACACACACCACTACACACTACACACACACAACACAC AACCACTATACACACACTACACACACCACTACACGCACACACTACACACA CTACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0025 a0001c0001t0001g0046	2	294	0.0068	110	c.43 others(121): Show c.4382_*4383insACCACTACACACTACACACACCACTACACACTAC ACACACACAACACACAACCACTATACACACACTACACACACCACTACACG CACACACTACACACACTACACACACA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4316		chr12	TogoVar
NOC4L_chr12_132139457_132157468	132156790	A A	ACACACTA others(103): Show ACACACTACACACACACCACTACACACTACACACACAACACACAACCACT ATACACACACTACACACACCACTACACGCACACACTACACACACTACACA CACAACCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0289	1	294	0.0034	110	c.43 others(121): Show c.4389_*4390insCACACTACACACACACCACTACACACTACACACA CAACACACAACCACTATACACACACTACACACACCACTACACGCACACAC TACACACACTACACACACAACCACTG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4323		chr12	TogoVar
NOC4L_chr12_132139457_132157468	132156790	A A	ACACACTA others(103): Show ACACACTACACACACACCACTACACACTACACACACACAACACACAACCA CTATACACACTACACACACCACTACACGCACACACTACACACACTACACA CACAACCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	294	0.0034	110	c.43 others(121): Show c.4389_*4390insCACACTACACACACACCACTACACACTACACACA CACAACACACAACCACTATACACACTACACACACCACTACACGCACACAC TACACACACTACACACACAACCACTG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4323		chr12	TogoVar
NOC4L_chr12_132139457_132157468	132156791	C C	CACACTAC others(103): Show CACACTACACACACACCACTACACACTACACACACACAACACACAACCAC TATACACACACTACACACACCACTACACGCACACACTACACACACTACAC ACACAACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	294	0.0034	110	c.43 others(121): Show c.4390_*4391insACACTACACACACACCACTACACACTACACACAC ACAACACACAACCACTATACACACACTACACACACCACTACACGCACACA CTACACACACTACACACACAACCACT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4324		chr12	TogoVar
NOS1AP_chr1_162064691_162375475	162264464	T T	TCTTCTCT others(103): Show TCTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	182	0.0055	110	c.178 others(129): Show c.178-22879_178-22878insTTCTCTTCTCTTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCC	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(103): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG GGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGA GTGGGTGGAGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0014 a0008c0030t0014	a0008c0030t0014g0173 a0008c0030t0014g0173	1	324	0.0031	110	c.140 others(127): Show c.140+8559_140+8560insCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGATCCCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCAGGG others(103): Show TCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTC AGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACT CAGGATCCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG03491.hp2 others(3): Show HG01243.hp2 HG02922.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG06807.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0007c0022 a0001c0001 a0001c0005 a0007c0022	a0001c0001t0012 a0001c0001t0019 a0001c0005t0008 others(1): Show a0001c0001t0012 a0001c0001t0019 a0001c0005t0008 a0007c0022t0008	a0001c0001t0012g0001 a0001c0001t0019g0005 a0001c0005t0008g0023 others(2): Show a0001c0001t0012g0001 a0001c0001t0019g0005 a0001c0005t0008g0023 a0007c0022t0008g0009 a0007c0022t0008g0010	6	324	0.0185	110	c.140 others(127): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCTCTCCAC CCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACTCCCACCCTGCACCCATTGCCCCTGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(103): Show AAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0133 a0002c0010t0002g0133	1	208	0.0048	110	c.-10 others(131): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NTS_chr12_85869295_85887992	85879256	A A	ATATTTTA others(103): Show ATATTTTATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAA ATATATTTATATATATATATTTTATGTACGTAAAATATATTTATATATAT ATTTTATGTAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	420	0.0024	110	c.360 others(125): Show c.360+687_360+688insTATTTTATGTACGTAAAATATATTTTTATA TATATTTTATGTACGTAAAATATATTTATATATATATATTTTATGTACGT AAAATATATTTATATATATATTTTATGTAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3			chr12	TogoVar
NXN_chr17_794310_984776	878388	T T	TTGCCCTT others(103): Show TTGCCCTTGAAGGTGGGGTTTGGGGGTGGGGGAGGGGGTGCCCTTGAAGG AGGGGTTTGCGGGCGGGGGTGGGGGGACCTTGAAGGTGGGGTGTGGGGGC AGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0239 a0001c0001t0015g0240 a0001c0001t0015g0239 a0001c0001t0015g0240	2	242	0.0083	110	c.361 others(129): Show c.361-52420_361-52311dupCCCCCTCCCCTGCCCCCACACCCCAC CTTCAAGGTCCCCCCACCCCCGCCCGCAAACCCCTCCTTCAAGGGCACCC CCTCCCCCACCCCCAAACCCCACCTTCAAGGGCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	878415	G G	GGGGGAGG others(103): Show GGGGGAGGGGGTGCCCTTGAAGGAGGGGTTTGCGGGCGGGGGTGGGGGGA CCTTGAAGGTGGGGTGTGGGGGCAGGGGAGGGGGTGCCCTTGAAGGTGGG GTTTGGGGGCA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18951.hp1 NA18970.hp2 HG00673.hp2 NA18951.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0002g0095 a0001c0001t0002g0188 a0001c0001t0001g0107 a0001c0001t0002g0095 a0001c0001t0002g0188	3	242	0.0124	110	c.361 others(129): Show c.361-52447_361-52338dupTGCCCCCAAACCCCACCTTCAAGGGC ACCCCCTCCCCTGCCCCCACACCCCACCTTCAAGGTCCCCCCACCCCCGC CCGCAAACCCCTCCTTCAAGGGCACCCCCTCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	892019	A A	ACTAACCC others(103): Show ACTAACCCCACCATGTACAACCCAACAGGGAACCTAAACTAACCCCACCA TGCACAACCCAACAGGGAACCTAAACTAACCCCACCATGCACAACCCAAC AAGGAACTAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02257.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0230 a0001c0001t0001g0077 a0001c0001t0001g0230	2	242	0.0083	110	c.361 others(129): Show c.361-65942_361-65941insCTTAGTTCCTTGTTGGGTTGTGCATG GTGGGGTTAGTTTAGGTTCCCTGTTGGGTTGTGCATGGTGGGGTTAGTTT AGGTTCCCTGTTGGGTTGTACATGGTGGGGTTAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949065	C C	CCCCCCGG others(103): Show CCCCCCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCGGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCGG CCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	242	0.0041	110	c.360 others(129): Show c.360+30253_360+30254insAGAGGAGGAGGCCGGGGGAGAGGAGG AGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGGGGGAGA GGAGGAGGCCGCGGGGAGAGGAGGAGGCCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949312	C C	CCCCCTGC others(103): Show CCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCGG CCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	242	0.0041	110	c.360 others(129): Show c.360+30006_360+30007insAGAGGAGGAGGCCGGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODF3_chr11_191761_205258	194833	A A	ATGGGGAC others(103): Show ATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCA CATACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAG GGGCACACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0005 a0004c0007t0001g0008 a0001c0001t0001g0005 a0004c0007t0001g0008	2	388	0.0052	110	c.-22 others(121): Show c.-2222_-2221insTGGGGACATCAGGAACACACTCAGGGCCACAGCC ACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCG AAAGTCCCCACAGAGGGGCACACAAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1927		chr11	TogoVar
ODF3_chr11_191761_205258	194939	A A	ATGGGGAC others(103): Show ATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCA CATACAGAGGATCCCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAG GGGCACACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	110	c.-21 others(121): Show c.-2116_-2115insTGGGGACATCAGGAACACACTCAGGGCCACAGCC ACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCA AAAGTCCCCACAGAGGGGCACACAAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1821		chr11	TogoVar
ODF3_chr11_191761_205258	194939	A A	ATGGGGAC others(103): Show ATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCA CATACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAG GGGCACACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01074.hp1 others(11): Show HG00323.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG02615.hp1 HG02970.hp2 HG03486.hp1 NA18969.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0002c0003t0001 a0001c0001t0001 a0001c0001t0005 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0005g0006 a0002c0003t0001g0008 a0001c0001t0001g0006 a0001c0001t0005g0006 a0002c0003t0001g0008	14	388	0.0361	110	c.-21 others(121): Show c.-2116_-2115insTGGGGACATCAGGAACACACTCAGGGCCACAGCC ACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCG AAAGTCCCCACAGAGGGGCACACAAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1821		chr11	TogoVar
ODF3_chr11_191761_205258	194939	A A	ATGGGGAC others(103): Show ATGGGGACATCAGGAACACACTCGGGGCCACAGCCACACACACAGACCCA CATACAGAGGATCCCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAG GGGCACACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	388	0.0026	110	c.-21 others(121): Show c.-2116_-2115insTGGGGACATCAGGAACACACTCGGGGCCACAGCC ACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCA AAAGTCCCCACAGAGGGGCACACAAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1821		chr11	TogoVar
OR10G2_chr14_21628836_21639940	21637241	T T	TATATATA others(103): Show TATATATATATATATATATATATATATATATATATATATACACATATACA TATATATATATATATATATATATACACATATACATATATATATATATATA TATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	474	0.0021	110	c.-24 others(121): Show c.-2400_-2399insGTGTATATATATATATATATATATATATGTATAT GTGTATATATATATATATATATATATATGTATATGTGTATATATATATAT ATATATATATATATATATATATATAT	OR10G2	ENSG00000255582.1	transcript	ENST00000542433.1	protein_coding		2302		chr14	TogoVar
OR1F1_chr16_3183204_3211556	3207172	A A	AAGGGAGG others(103): Show AAGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGAAATGG AGGAGAGGGGAGGGGAGGGAAATGGAGGAGGGGGAGGGGAGGGGAGGGGA GGAGAGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0154 a0001c0001t0037g0154	1	328	0.0031	110	c.19 others(121): Show c.1987_*1988insAGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGG AGGGGAGGGAAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGGAGGGGGA GGGGAGGGGAGGGGAGGAGAGGGGAG	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		617		chr16	TogoVar
OR6J1_chr14_22625929_22649352	22636401	C C	CCTCTCCC others(103): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	362	0.0028	110	c.-27 others(127): Show c.-27-1564_-27-1563insAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSCAR_chr19_54089668_54105803	54096320	C C	CCCTCTCT others(103): Show CCCTCTCTCTCTGCCTCCCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCT CTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTCTCTCTCTGCCTGCCTCT CTCTCTGCCTG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19072.hp1 NA19058.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	443	0.0045	110	c.374 others(125): Show c.374-168_374-167insCAGGCAGAGAGAGAGGCAGGCAGAGAGAGA GGGAGGCAGAGAGAGAGGGAGGCAGAGAGAGAGGGAGGCAGAGAGAGAGG GAGGCAGAGAGAGGGAGGCAGAGAGAGAGG	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	3/4			chr19	TogoVar
OSCAR_chr19_54089668_54105803	54096353	T T	TCTCTCTC others(103): Show TCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTC TCTCTCTGCCTCCCTCTCTCTCTGCCTGCCTCTCTCTCTGCCTGCCTCTC TCTCTGCCTCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03942.hp2 NA18965.hp2 others(1): Show HG03491.hp2 HG03942.hp2 NA18965.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0174 a0001c0001t0001g0241 a0001c0001t0001g0280 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0241 a0001c0001t0001g0280 a0001c0001t0003g0109	4	443	0.0090	110	c.374 others(125): Show c.374-201_374-200insGGAGGCAGAGAGAGAGGCAGGCAGAGAGAG AGGCAGGCAGAGAGAGAGGGAGGCAGAGAGAGAGGGAGGCAGAGAGAGAG GGAGGCAGAGAGAGAGGGAGGCAGAGAGAG	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	3/4			chr19	TogoVar
OSCAR_chr19_54089668_54105803	54096495	T T	TCTCTCTC others(103): Show TCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTC TCTCTCTGCCTCCCTCTCTCTCTGCCTGCCTCTCTCTCTGCCTGCCTCTC TCTCTGCCTCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp1 HG01074.hp1 others(11): Show HG00621.hp2 HG00738.hp1 HG01074.hp1 HG01255.hp1 HG01928.hp2 HG01993.hp2 HG02027.hp1 HG02071.hp1 HG02135.hp2 NA18950.hp1 NA18954.hp2 NA18971.hp2 NA19060.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0117 others(10): Show a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0166 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0268 a0001c0001t0001g0287	14	443	0.0316	110	c.374 others(125): Show c.374-343_374-342insGGAGGCAGAGAGAGAGGCAGGCAGAGAGAG AGGCAGGCAGAGAGAGAGGGAGGCAGAGAGAGAGGGAGGCAGAGAGAGAG GGAGGCAGAGAGAGAGGGAGGCAGAGAGAG	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	3/4			chr19	TogoVar
OSGIN1_chr16_83948240_83971332	83950850	T T	TACTGGCA others(103): Show TACTGGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACA TGCACATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02083.hp1 HG04204.hp1 HG02040.hp1 HG02083.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0004t0004g0124 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0004t0004g0124	3	350	0.0086	110	c.-25 others(121): Show c.-2553_-2552insACTGGCACACGTACACACACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGA GCACATGTGCACACATGCACATACAC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2389		chr16	TogoVar
P4HA2_chr5_132185147_132232853	132208400	G G	GAGGAGGG others(103): Show GAGGAGGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGAGGAGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	426	0.0024	110	c.904 others(125): Show c.904-517_904-516insTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCTCCTCCCCTC CCCTCCCTCCTCCCCTCCCCTCCCCCTCCT	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
P4HA2_chr5_132185147_132232853	132208421	G G	GGGGAGGG others(103): Show GGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02965.hp2 others(1): Show HG02486.hp2 HG02572.hp1 HG02965.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0080 a0001c0001t0015g0320 a0001c0001t0015g0326 others(1): Show a0001c0001t0004g0080 a0001c0001t0015g0320 a0001c0001t0015g0326 a0001c0001t0015g0327	4	426	0.0094	110	c.904 others(125): Show c.904-538_904-537insTCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
PABIR2_chrX_134764566_134802205	134788466	G G	GTGTAATA others(103): Show GTGTAATATATACACGTTATATATGTGTAATATATACACGTTATATATGT GTAATATATACACGTTATATATGTTATATATGTTATATATGTGTTATATA TACGTTATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02257.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0132 a0001c0001t0002g0051 a0001c0001t0002g0132	2	217	0.0092	110	c.435 others(125): Show c.435+263_435+264insTATATAACGTATATATAACACATATATAAC ATATATAACATATATAACGTGTATATATTACACATATATAACGTGTATAT ATTACACATATATAACGTGTATATATTACA	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(103): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATAGATAGATATATATATATA TATATATATATATATATATATATATATATATATATATATATACAGTAACT TTTAAAAAGTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02300.hp2 HG01952.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	408	0.0049	110	c.181 others(127): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TAGATAGATATATATATATATATATATATATATATATATATATATATATA TATATATATATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(103): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATAGATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATACAGTAACT TTTAAAAAGTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02895.hp1 HG02897.hp2 HG00544.hp2 HG02895.hp1 HG02897.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0012 a0001c0001t0002 a0004c0004t0012	a0001c0001t0002g0019 a0004c0004t0012g0129 a0001c0001t0002g0019 a0004c0004t0012g0129	3	408	0.0074	110	c.181 others(127): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TAGATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(103): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATACAGTAACT TTTAAAAAGTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG06807.hp2 NA18977.hp2 others(1): Show HG03492.hp1 HG06807.hp2 NA18977.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0181 a0001c0001t0002g0205 a0001c0001t0001g0025 a0001c0001t0001g0181 a0001c0001t0002g0205	4	408	0.0098	110	c.181 others(127): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PCDH15_chr10_53797771_54806231	54146952	A A	ATATATAT others(103): Show ATATATATATAGTGTATATATATAGTGTATATATATATAATGTATATATA TAGTGTATATATATATAATGTATATATATAGTGTATATATATATAATGTA TATATATAGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0034 a0034	a0034c0022 a0034c0022	a0034c0022t0001 a0034c0022t0001	a0034c0022t0001g0054 a0034c0022t0001g0054	1	102	0.0098	110	c.178 others(129): Show c.1784+6147_1784+6148insCACTATATATATACATTATATATATA TACACTATATATATACATTATATATATATACACTATATATATACATTATA TATATATACACTATATATATACACTATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	14/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54146952	A A	ATATATAT others(103): Show ATATATATATAGTGTATATATATAGTGTATATATATATAATGTATATATA TAGTGTATATATATATAATGTATATATATAGTGTATATATATATAATGTA TATATATAGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	94	0.0106	110	c.178 others(129): Show c.1784+6147_1784+6148insCACTATATATATACATTATATATATA TACACTATATATATACATTATATATATATACACTATATATATACATTATA TATATATACACTATATATATACACTATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	14/32			chr10	TogoVar
PCED1A_chr20_2830314_2845655	2842890	A A	ATCGATCG others(103): Show ATCGATCGATAGATGCATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCGATAGATAGATAGATAGATGTATCGATAGATAG ATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	436	0.0023	110	c.-27 others(121): Show c.-2702_-2701insGATAGATACATCTATCTATCGATACATCTATCTA TCTATCTATCGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATGCATCTATCGATCGA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2236		chr20	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(103): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00735.hp1 others(22): Show HG00438.hp1 HG00558.hp1 HG00735.hp1 HG00735.hp2 HG01952.hp1 HG02040.hp2 HG02258.hp1 HG02572.hp2 HG02735.hp2 HG02965.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 NA18522.hp1 NA18939.hp2 NA18973.hp2 NA18979.hp1 NA18981.hp1 NA19009.hp2 NA19012.hp2 NA19065.hp2 NA19091.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0002c0003t0001 a0002c0004t0003	a0001c0001t0001g0021 a0001c0001t0001g0169 a0001c0001t0001g0170 others(22): Show a0001c0001t0001g0021 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0002g0068 a0001c0001t0003g0070 a0001c0001t0005g0019 a0001c0001t0005g0270 a0001c0002t0001g0041 a0001c0002t0001g0105 a0001c0002t0001g0114 a0001c0002t0001g0122 a0001c0002t0001g0154 a0001c0002t0001g0330 a0001c0002t0001g0335 a0002c0003t0001g0286 a0002c0004t0003g0265 a0002c0004t0003g0279 a0002c0004t0003g0280 a0002c0004t0003g0298	25	360	0.0694	110	c.36 others(121): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(103): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	360	0.0028	110	c.36 others(121): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCC GCCCTCACCCTGCACCTCCCCCCCTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar

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