Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(35): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	404	0.0025	42	c.193 others(59): Show c.193+3527_193+3528insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDV3_chr3_133568686_133595261	133576841	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0118	1	386	0.0026	42	c.317 others(59): Show c.317+1749_317+1750insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDYL_chr6_4771404_4960544	4894883	G G	GTGTGTAT others(35): Show GTGTGTATATATACACACGTACGTGTGTATATACACACGTGTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0122 a0001c0001t0005g0122	1	250	0.0040	42	c.691 others(59): Show c.691+2509_691+2510insATATATACACACGTACGTGTGTATATAC ACACGTGTATGTGT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM16_chr19_44694151_44715718	44709684	C C	CCATGTCT others(35): Show CCATGTCTCCTCCATCAGACTGGGAGCTCCCAGAGTCAGGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19240.hp1 HG02451.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0069 a0001c0020t0001g0157 a0001c0001t0001g0069 a0001c0020t0001g0157	2	450	0.0044	42	c.126 others(59): Show c.1268-771_1268-770insGCATGTCTCCTCCATCAGACTGGGAGCT CCCAGAGTCAGGGA	CEACAM16	ENSG00000213892.12	transcript	ENST00000587331.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF2_chr10_11012872_11341675	11197070	G G	GAAAGAAA others(35): Show GAAAGAAAAGAAAGAAAGAAGGAAAGAAAGGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG03017.hp2 others(1): Show HG00642.hp1 HG01099.hp2 HG03017.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0002 a0001c0004t0013 a0001c0006t0020 a0001c0002t0002 a0001c0004t0013 a0001c0006t0020	a0001c0002t0002g0027 a0001c0002t0002g0073 a0001c0004t0013g0074 others(1): Show a0001c0002t0002g0027 a0001c0002t0002g0073 a0001c0004t0013g0074 a0001c0006t0020g0191	4	194	0.0206	42	c.272 others(61): Show c.272-20355_272-20354insAAAGAAAAGAAAGAAAGAAGGAAAGA AAGGAAAGAAAGGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12			chr10	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(35): Show CTCTCTCTCTATATATATATATATATGTATATATATATATACG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0013 a0002c0008t0013	a0002c0008t0013g0078 a0002c0008t0013g0078	1	320	0.0031	42	c.204 others(61): Show c.2049+1613_2049+1614insCGTATATATATATATACATATATATA TATATATAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTATATATATATATGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0008 a0002c0008t0008	a0002c0008t0008g0080 a0002c0008t0008g0080	1	320	0.0031	42	c.204 others(61): Show c.2049+1613_2049+1614insCGTATATATATATATACATATATATA TATAGAGAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0044 a0002c0008t0044	a0002c0008t0044g0076 a0002c0008t0044g0076	1	320	0.0031	42	c.204 others(61): Show c.2049+1613_2049+1614insCGTATATATATATATATATATATAGA GAGAGAGAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728265	A A	ATATATAT others(35): Show ATATATATATATACGTATATACACGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0266 a0001c0001t0006g0266	1	320	0.0031	42	c.204 others(61): Show c.2049+1579_2049+1580insCATATATATATATATATACGTGTATA TACGTATATATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728287	A A	ACACGTAT others(35): Show ACACGTATATATATATATATATGTATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01515.hp1 HG01517.hp2 others(4): Show HG01071.hp2 HG01515.hp1 HG01517.hp2 NA18948.hp1 NA18971.hp2 NA19070.hp1 NA19086.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0006c0006t0001	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0317 others(3): Show a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0002g0001 a0001c0001t0010g0319 a0006c0006t0001g0308	7	320	0.0219	42	c.204 others(61): Show c.2049+1557_2049+1558insCGTATATATATATATATATACATATA TATATATATATACGTG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728287	A A	ACACGTAT others(35): Show ACACGTATATATATATATATGTGTATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	320	0.0031	42	c.204 others(61): Show c.2049+1557_2049+1558insCGTATATATATATATATATACACATA TATATATATATACGTG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728289	A A	ACGTATAT others(35): Show ACGTATATATATATATATGTATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0128 a0001c0001t0010g0128	1	320	0.0031	42	c.204 others(61): Show c.2049+1555_2049+1556insCGTATATATATATATATATATATACA TATATATATATATACG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CENPE_chr4_103100811_103203343	103102328	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0099 a0001c0007t0001g0099	1	320	0.0031	42	c.38 others(53): Show c.3893_*3894insATATATATATATATATATATATATATATATATAT ATATATAT	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding		3482		chr4	TogoVar
CENPJ_chr13_24877279_24927861	24881880	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 NA18970.hp2 HG02074.hp2 NA18970.hp2	a0001 a0013 a0001 a0013	a0001c0002 a0013c0017 a0001c0002 a0013c0017	a0001c0002t0001 a0013c0017t0001 a0001c0002t0001 a0013c0017t0001	a0001c0002t0001g0249 a0013c0017t0001g0261 a0001c0002t0001g0249 a0013c0017t0001g0261	2	440	0.0046	42	c.12 others(53): Show c.1296_*1297insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		398		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881902	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 NA18962.hp2 HG01358.hp1 NA18962.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0012 a0001c0004t0001g0008 a0001c0004t0001g0012	2	440	0.0046	42	c.12 others(53): Show c.1274_*1275insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		376		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881924	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01167.hp2 HG01257.hp1 others(6): Show HG01123.hp1 HG01167.hp2 HG01257.hp1 HG01258.hp2 HG01952.hp2 HG02738.hp2 HG03490.hp1 NA18949.hp2 NA19064.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0001c0002 a0018c0024 a0001c0001 a0001c0002 a0018c0024	a0001c0001t0004 a0001c0002t0007 a0018c0024t0004 a0001c0001t0004 a0001c0002t0007 a0018c0024t0004	a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0004g0091 others(4): Show a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0004g0091 a0001c0001t0004g0137 a0001c0002t0007g0232 a0001c0002t0007g0235 a0018c0024t0004g0151	9	440	0.0205	42	c.12 others(53): Show c.1252_*1253insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		354		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881946	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 NA19240.hp2 HG02723.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0007 a0001c0001t0004 a0001c0002t0007	a0001c0001t0004g0147 a0001c0002t0007g0234 a0001c0001t0004g0147 a0001c0002t0007g0234	2	440	0.0046	42	c.12 others(53): Show c.1230_*1231insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		332		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882004	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02897.hp2 others(1): Show HG02055.hp1 HG02257.hp1 HG02897.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0004 a0001c0001t0014 a0001c0002t0007 others(1): Show a0001c0001t0004 a0001c0001t0014 a0001c0002t0007 a0001c0010t0006	a0001c0001t0004g0152 a0001c0001t0014g0142 a0001c0002t0007g0273 others(1): Show a0001c0001t0004g0152 a0001c0001t0014g0142 a0001c0002t0007g0273 a0001c0010t0006g0031	4	440	0.0091	42	c.11 others(53): Show c.1172_*1173insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		274		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882026	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0031 a0001c0010t0006g0031	1	440	0.0023	42	c.11 others(53): Show c.1150_*1151insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		252		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882211	T T	TATATAGA others(35): Show TATATAGATACATCTATATAGATATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 NA18999.hp2 HG01993.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0027 a0001c0002t0001g0002 a0001c0002t0001g0027	2	440	0.0046	42	c.96 others(51): Show c.965_*966insCTATATAGATGTATCTATATATCTATATAGATGTAT CTATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		67		chr13	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTATACATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18966.hp1 NA18975.hp2 HG02922.hp2 NA18966.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0161 a0001c0001t0003g0171 a0001c0001t0007g0187 a0001c0001t0003g0161 a0001c0001t0003g0171 a0001c0001t0007g0187	3	260	0.0115	42	c.467 others(59): Show c.467+6719_467+6720insGTGTGTGTGTATACATATATATATATAT ATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTATGCATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	260	0.0039	42	c.467 others(59): Show c.467+6719_467+6720insGTGTGTGTGTATGCATATATATATATAT ATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533328	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	260	0.0039	42	c.565 others(61): Show c.565-77985_565-77984insAAAAAATATATATATATATATATATA TATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATAGATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	260	0.0039	42	c.565 others(61): Show c.565-43918_565-43917insTATATATATAGATATATATATATATA TATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATAGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	260	0.0039	42	c.565 others(61): Show c.565-43918_565-43917insTATATATATATATATAGATATATATA TATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP128_chr14_80491479_80946738	80561896	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0158 a0002c0002t0006g0158	1	164	0.0061	42	c.285 others(61): Show c.2857-2595_2857-2594insTATATATATATATATATATATATATA TATATATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	20/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80678049	A A	AAAATATA others(35): Show AAAATATATATATATATATATATATATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	164	0.0061	42	c.280 others(63): Show c.2806+65025_2806+65026insATATATATATATATACATATATAT ATATATATATATATATTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729056	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18960.hp1 NA18947.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0134 a0001c0001t0002g0107 a0001c0001t0002g0134	2	164	0.0122	42	c.280 others(63): Show c.2806+14018_2806+14019insACACACACACACACACACACACAC ACACACACACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP20_chr16_15860719_15893603	15866445	T T	TTCTCCTC others(35): Show TTCTCCTCGATCCACCCCTCGCTCCCGCTCCTCCCGTCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0170 a0001c0001t0018g0170	1	433	0.0023	42	c.99 others(51): Show c.994_*995insGGGGGGACGGGAGGAGCGGGAGCGAGGGGTGGATCG AGGAGA	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	5/5	994		chr16	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(35): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02040.hp1 HG02965.hp2 others(6): Show HG00639.hp1 HG02040.hp1 HG02965.hp2 HG03453.hp1 HG06807.hp2 NA18957.hp2 NA18980.hp1 NA19007.hp1 NA19240.hp1	a0001 a0007 a0008 others(2): Show a0001 a0007 a0008 a0010 a0012	a0001c0001 a0007c0007 a0008c0008 others(2): Show a0001c0001 a0007c0007 a0008c0008 a0010c0011 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0007c0007t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0007c0007t0002 a0008c0008t0003 a0010c0011t0001 a0012c0012t0001	a0001c0001t0001g0045 a0001c0001t0002g0002 a0001c0001t0002g0074 others(5): Show a0001c0001t0001g0045 a0001c0001t0002g0002 a0001c0001t0002g0074 a0007c0007t0002g0016 a0008c0008t0003g0135 a0010c0011t0001g0199 a0012c0012t0001g0044 a0012c0012t0001g0198	9	430	0.0209	42	c.-10 others(53): Show c.-1057_-1056insCACACACACACACACACACACACACACACACACA CACACACA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18969.hp1 NA20752.hp1 HG01981.hp1 NA18969.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0245 a0002c0002t0001g0252 a0002c0002t0001g0239 a0002c0002t0001g0245 a0002c0002t0001g0252	3	322	0.0093	42	c.555 others(59): Show c.555+1264_555+1265insATATATATATATATATATATATATATAT ATATATGTATATAT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP85_chr1_26229200_26283808	26282344	A A	ACCGGGAC others(35): Show ACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	342	0.0029	42	c.50 others(53): Show c.5051_*5052insCCGGGACCGGGACTGGGGCCGGGACCGGGACCGG GACTGGGG	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		3537		chr1	TogoVar
CEP85_chr1_26229200_26283808	26282358	T T	TGGGGCCG others(35): Show TGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	342	0.0029	42	c.50 others(53): Show c.5065_*5066insGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGA CCGGGACC	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		3551		chr1	TogoVar
CEP97_chr3_101719614_101775562	101729815	A A	AGCAGTGG others(35): Show AGCAGTGGTGCAATCTTGGCTCACTGCAACCCAAGCAGTGGTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18943.hp2 NA18945.hp2 others(4): Show NA18747.hp1 NA18943.hp2 NA18945.hp2 NA18967.hp2 NA18990.hp1 NA19056.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0156 a0001c0001t0002g0157 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159	7	352	0.0199	42	c.447 others(57): Show c.447+909_447+950dupCAAGCAGTGGTTGCAGTGGTGCAATCTTGG CTCACTGCAACC	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CERKL_chr2_181531672_181662105	181606366	A A	AGGGAGAG others(35): Show AGGGAGAGGAGGGGGAGGGGAGGGGAGAGGAGGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03834.hp1 HG03704.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0233 a0001c0001t0002g0161 a0001c0001t0002g0233	2	298	0.0067	42	c.239 others(59): Show c.239-2329_239-2288dupCTCCCCTCCCCCTCCTCTCCCCTCCCCT CCCCCTCCTCTCCC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS3_chr15_100395395_100533950	100466813	C C	CCCTCTCT others(35): Show CCCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	362	0.0028	42	c.845 others(59): Show c.845+2564_845+2565insAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAGAGAGAGAGG	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	418	0.0024	42	c.-1- others(59): Show c.-1-19203_-1-19202insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01257.hp2 HG02630.hp1 others(8): Show HG01074.hp1 HG01257.hp2 HG02630.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03516.hp1 NA18994.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0004t0001 a0002c0003t0003	a0001c0001t0001g0072 a0001c0001t0001g0192 a0001c0001t0004g0016 others(8): Show a0001c0001t0001g0072 a0001c0001t0001g0192 a0001c0001t0004g0016 a0001c0001t0004g0083 a0001c0001t0004g0100 a0001c0001t0005g0090 a0001c0001t0007g0137 a0001c0004t0001g0006 a0002c0003t0003g0067 a0002c0003t0003g0068 a0002c0003t0003g0070	11	320	0.0344	42	c.197 others(61): Show c.197+10680_197+10681insTATATATATATATATATATATATATA TATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG01516.hp2 others(2): Show HG00642.hp1 HG01255.hp2 HG01516.hp2 HG02698.hp1 NA18999.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0012 a0002c0003t0003 a0002c0003t0012	a0002c0003t0003g0012 a0002c0003t0003g0034 a0002c0003t0003g0052 others(2): Show a0002c0003t0003g0012 a0002c0003t0003g0034 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0012g0033	5	320	0.0156	42	c.197 others(61): Show c.197+10663_197+10664insTTATATATATATATATATATATATAT ATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CES1_chr16_55797851_55838096	55798665	T T	TTTCTTTC others(35): Show TTTCTTTCCTTCTTTCCTTCTTTCTCTTTCTTTCTTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	87	0.0115	42	c.43 others(53): Show c.4383_*4384insGGAAAGAAAGAAAGAAAGAGAAAGAAGGAAAGAA GGAAAGAA	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding		4185		chr16	TogoVar
CES1_chr16_55797851_55838096	55798665	T T	TTTCTTTC others(35): Show TTTCTTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	87	0.0115	42	c.43 others(53): Show c.4383_*4384insGGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA GGAAAGAA	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding		4185		chr16	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(35): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp1 HG01106.hp1 HG02257.hp1	a0016 a0040 a0016 a0040	a0016c0056 a0040c0058 a0016c0056 a0040c0058	a0016c0056t0001 a0040c0058t0002 a0016c0056t0001 a0040c0058t0002	a0016c0056t0001g0356 a0040c0058t0002g0330 a0016c0056t0001g0356 a0040c0058t0002g0330	2	449	0.0045	42	c.112 others(61): Show c.1126-1504_1126-1503insAAAAAAAAAAAAAAAGAAAAAAAAAA AGAAAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(35): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG02132.hp1 others(10): Show HG00544.hp1 HG00609.hp1 HG02132.hp1 HG02132.hp2 NA18946.hp2 NA18949.hp1 NA18978.hp1 NA18987.hp2 NA19000.hp2 NA19010.hp1 NA19011.hp1 NA19060.hp1 NA19084.hp1	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0008 a0012 a0014 a0017 a0024 a0035	a0001c0002 a0002c0003 a0005c0008 others(6): Show a0001c0002 a0002c0003 a0005c0008 a0008c0009 a0012c0014 a0014c0016 a0017c0027 a0024c0033 a0035c0036	a0001c0002t0006 a0002c0003t0001 a0002c0003t0002 others(9): Show a0001c0002t0006 a0002c0003t0001 a0002c0003t0002 a0002c0003t0013 a0005c0008t0002 a0008c0009t0004 a0008c0009t0006 a0012c0014t0002 a0014c0016t0002 a0017c0027t0006 a0024c0033t0002 a0035c0036t0012	a0001c0002t0006g0168 a0002c0003t0001g0248 a0002c0003t0002g0208 others(10): Show a0001c0002t0006g0168 a0002c0003t0001g0248 a0002c0003t0002g0208 a0002c0003t0002g0311 a0002c0003t0013g0408 a0005c0008t0002g0225 a0008c0009t0004g0080 a0008c0009t0006g0157 a0012c0014t0002g0255 a0014c0016t0002g0242 a0017c0027t0006g0158 a0024c0033t0002g0280 a0035c0036t0012g0265	13	449	0.0290	42	c.112 others(61): Show c.1126-1504_1126-1503insAAAAAAAAAAAAAAGAAAAAAAAAAA AGAAAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP276_chr1_109100951_109117747	109113415	A A	AGAGAGAG others(35): Show AGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 NA18906.hp1 HG02451.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0071 a0002c0002t0001g0007 a0002c0002t0001g0071	2	404	0.0050	42	c.-73 others(51): Show c.-737_-736insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC TCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		669		chr1	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(35): Show AACACACACACCCACACCCACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0085 a0003c0008t0001g0085	1	96	0.0104	42	c.242 others(59): Show c.242+1215_242+1216insCCACACCCACACACACACACACACACAC ACACACACACACAC	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(35): Show ACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	436	0.0023	42	c.143 others(59): Show c.143+1240_143+1241insGGGGGGGGGGGTGCGCGTGCCCGCCCAG AGGTTGAGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132804178	A A	ACGGCCCT others(35): Show ACGGCCCTGTCCCCACGTCCCTGTCCCCTCGGCCCCATCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG01081.hp2 HG01192.hp1	a0003 a0035 a0003 a0035	a0003c0012 a0035c0057 a0003c0012 a0035c0057	a0003c0012t0002 a0035c0057t0001 a0003c0012t0002 a0035c0057t0001	a0003c0012t0002g0087 a0035c0057t0001g0234 a0003c0012t0002g0087 a0035c0057t0001g0234	2	246	0.0081	42	c.42 others(53): Show c.4242_*4243insAGGGGATGGGGCCGAGGGGACAGGGACGTGGGGA CAGGGCCG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		4213		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888710	G G	GCACCCCG others(35): Show GCACCCCGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0029 a0029	a0029c0099 a0029c0099	a0029c0099t0002 a0029c0099t0002	a0029c0099t0002g0017 a0029c0099t0002g0017	1	246	0.0041	42	c.330 others(61): Show c.3305-2752_3305-2751insAAGGTGGCAGGTGCAGGCGGCAGGGG TGAAGGTGGCGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	36371765	T T	TATATACG others(35): Show TATATACGTGTGCATATACACACATGTGTGTATATACGTGTGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp1 HG02572.hp1 HG03225.hp1	a0011 a0052 a0011 a0052	a0011c0030 a0052c0060 a0011c0030 a0052c0060	a0011c0030t0001 a0052c0060t0001 a0011c0030t0001 a0052c0060t0001	a0011c0030t0001g0185 a0052c0060t0001g0208 a0011c0030t0001g0185 a0052c0060t0001g0208	2	216	0.0093	42	c.918 others(61): Show c.9185+4644_9185+4645insGTGTGCATATACACACATGTGTGTAT ATACGTGTGCATATAC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0134 a0010c0007t0001g0134	1	316	0.0032	42	c.117 others(61): Show c.1175-1857_1175-1856insAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar

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