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	21971575	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02647.hp2 others(4): Show HG01884.hp2 HG02630.hp2 HG02647.hp2 HG02970.hp1 HG03139.hp1 NA18906.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0193 a0001c0001t0001g0225 a0001c0001t0001g0265 others(4): Show a0001c0001t0001g0193 a0001c0001t0001g0225 a0001c0001t0001g0265 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0002g0309	7	404	0.0173	25	c.194 others(40): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990651	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02683.hp2 HG01952.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0210 a0001c0001t0001g0148 a0001c0001t0001g0210	2	404	0.0050	25	c.193 others(42): Show c.193+3487_193+3488insCTCTCTCTCTCTCTCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA18944.hp2 NA18945.hp2 others(8): Show HG00438.hp2 NA18944.hp2 NA18945.hp2 NA18974.hp2 NA18975.hp2 NA18998.hp2 NA19009.hp1 NA19009.hp2 NA19067.hp1 NA19068.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	11	410	0.0268	25	c.-18 others(36): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDRT4_chr17_15431015_15472621	15435748	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	430	0.0023	25	c.20 others(36): Show c.2024_*2025insTTTTTTTTTTTTTTTTTTTTTTTTT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding		266		chr17	TogoVar
CDV3_chr3_133568686_133595261	133594433	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01515.hp1 HG03017.hp2 others(2): Show HG01099.hp1 HG01515.hp1 HG03017.hp2 HG03490.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0135	5	386	0.0130	25	c.63 others(36): Show c.6387_*6388insAAAAAAAAAAAAAAAAAAAAAAAAA	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4173		chr3	TogoVar
CDYL2_chr16_80592907_80809598	80759118	A A	ATATATAT others(18): Show ATATATATATATATATATATATGGTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	258	0.0039	25	c.24+ others(42): Show c.24+45007_24+45031dupAACCATATATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80759120	A A	ATATATAT others(18): Show ATATATATATATATATATATATGGTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp2 HG02630.hp2 HG02723.hp2	a0001 a0001	a0001c0009 a0001c0020 a0001c0009 a0001c0020	a0001c0009t0007 a0001c0020t0008 a0001c0009t0007 a0001c0020t0008	a0001c0009t0007g0013 a0001c0020t0008g0012 a0001c0009t0007g0013 a0001c0020t0008g0012	2	258	0.0078	25	c.24+ others(42): Show c.24+45029_24+45030insAACCATATATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80759122	A A	ATATATAT others(18): Show ATATATATATATATATATATATGGTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp1 HG03041.hp2 others(2): Show HG01109.hp1 HG02559.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0040 a0001c0003t0002 a0001c0004t0011 a0001c0001t0040 a0001c0003t0002 a0001c0004t0011	a0001c0001t0040g0044 a0001c0003t0002g0043 a0001c0003t0002g0215 others(2): Show a0001c0001t0040g0044 a0001c0003t0002g0043 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0004t0011g0045	5	258	0.0194	25	c.24+ others(42): Show c.24+45027_24+45028insAACCATATATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80759122	A A	ATATATAT others(18): Show ATATATATATATATATATATGGTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0120 a0001c0003t0019g0120	1	258	0.0039	25	c.24+ others(42): Show c.24+45027_24+45028insAAAACCATATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CEACAM18_chr19_51473539_51496301	51478771	G G	GCTGGGAC others(18): Show GCTGGGACCATCCCCATCCACGGGCA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	420	0.0024	25	c.52+ others(37): Show c.52+79_52+103dupTGGGACCATCCCCATCCACGGGCAC	CEACAM18	ENSG00000213822.7	transcript	ENST00000396477.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581920	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0200 a0007c0011t0001g0200	1	314	0.0032	25	c.41 others(40): Show c.41-568_*41-567insATATATATATATATATATATATTTT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar
CECR2_chr22_17364460_17563151	17524387	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0129 a0001c0001t0071g0129	1	324	0.0031	25	c.110 others(42): Show c.1108+139_1108+140insTTTTTTTTTTTTTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELA2A_chr1_15451732_15477091	15459443	C C	CGTGAGCC others(18): Show CGTGAGCCTCTCAACCCAGCCTCACA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	430	0.0023	25	c.130 others(42): Show c.130-2117_130-2093dupGTGAGCCTCTCAACCCAGCCTCACA	CELA2A	ENSG00000142615.8	transcript	ENST00000359621.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CELA2B_chr1_15471104_15496395	15478217	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0183 a0001c0014t0001g0183	1	414	0.0024	25	c.129 others(42): Show c.129+1672_129+1673insATATATATATATATATATATATATA	CELA2B	ENSG00000215704.10	transcript	ENST00000375910.8	protein_coding	2/7			chr1	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	340	0.0029	25	c.72- others(38): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11197070	G G	GAAGGAAA others(18): Show GAAGGAAAGAAAGGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01358.hp1 others(2): Show HG01081.hp1 HG01106.hp2 HG01358.hp1 HG02080.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0016 a0001c0002t0045	a0001c0001t0001g0180 a0001c0001t0008g0081 a0001c0002t0001g0067 others(2): Show a0001c0001t0001g0180 a0001c0001t0008g0081 a0001c0002t0001g0067 a0001c0002t0016g0035 a0001c0002t0045g0099	5	194	0.0258	25	c.272 others(44): Show c.272-20355_272-20354insAAGGAAAGAAAGGAAAGAAAGGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12			chr10	TogoVar
CELF2_chr10_11012872_11341675	11284173	T T	TGGATGAG others(18): Show TGGATGAGGGATGAGTGTGTGGTGGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0129 a0001c0003t0008g0129	1	194	0.0052	25	c.842 others(42): Show c.842-4229_842-4228insTGTGGTGGGGGATGAGGGATGAGTG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELSR3_chr3_48631463_48667886	48647477	T T	TGGAGGGT others(18): Show TGGAGGGTGGAGGGGAGATGTGGGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA21309.hp1 HG00741.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0059 a0003c0003t0001g0073 a0001c0001t0001g0059 a0003c0003t0001g0073	2	206	0.0097	25	c.712 others(42): Show c.7129+339_7129+363dupCTCCCACATCTCCCCTCCACCCTCC	CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding	20/34			chr3	TogoVar
CEMIP_chr15_80774370_80956771	80839289	A A	ATGTGTGT others(18): Show ATGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02897.hp2 HG02451.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0003 a0001c0002t0001 a0001c0008t0003	a0001c0002t0001g0017 a0001c0008t0003g0073 a0001c0002t0001g0017 a0001c0008t0003g0073	2	254	0.0079	25	c.-17 others(46): Show c.-175-34249_-175-34248insTGTGTGTGTGTGTGTGTGTGTGTG T	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29			chr15	TogoVar
CEMP1_chr16_2525035_2536408	2533430	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01934.hp2 HG02071.hp2 others(6): Show HG01123.hp1 HG01934.hp2 HG02071.hp2 NA18955.hp2 NA18960.hp1 NA18968.hp1 NA18990.hp1 NA19070.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	9	348	0.0259	25	c.-23 others(36): Show c.-2358_-2357insAAAAAAAAAAAAAAAAAAAAAAAAA	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		2023		chr16	TogoVar
CENPE_chr4_103100811_103203343	103132960	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	320	0.0031	25	c.672 others(40): Show c.6721-65_6721-64insTATATATATATATATATATATATAT	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103132983	T T	TTTATATA others(18): Show TTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0102 a0003c0003t0001g0102	1	320	0.0031	25	c.672 others(40): Show c.6721-88_6721-87insTATATATATATATATATATATATAA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103132984	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00642.hp1 HG00642.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0109 a0003c0003t0001g0147 a0003c0003t0001g0109 a0003c0003t0001g0147	2	320	0.0063	25	c.672 others(40): Show c.6721-89_6721-88insATATATATATATATATATATATATA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPH_chr5_69184583_69215357	69200719	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02148.hp2 NA18974.hp1 HG01978.hp2 HG02148.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0251 a0001c0001t0001g0262 a0001c0001t0001g0191 a0001c0001t0001g0251 a0001c0001t0001g0262	3	388	0.0077	25	c.372 others(42): Show c.372-1777_372-1753dupTTTTTTTTTTTTTTTTTTTTTTTTT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPI_chrX_101093204_101171126	101162473	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0013 a0001c0002t0005g0013	1	282	0.0036	25	c.213 others(42): Show c.2137-359_2137-358insAAATATATATATATATATATATATA	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	21/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPO_chr2_24788425_24827376	24817466	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0025 a0002c0002t0009g0025	2	382	0.0052	25	c.767 others(40): Show c.767-194_767-193insAAAAAAAAAAAAAAAAAAAAAAAAA	CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CENPP_chr9_92320953_92625529	92532015	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	260	0.0039	25	c.565 others(44): Show c.565-79286_565-79285insTTTTTTTTTTTTTTTTTTTTTTTTT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533328	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	260	0.0039	25	c.565 others(44): Show c.565-77985_565-77984insAAATATATATATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92552107	T T	TATATATG others(18): Show TATATATGTGATATGATAGATCTATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01346.hp2 HG02015.hp2 others(15): Show HG00280.hp1 HG01346.hp2 HG02015.hp2 HG02165.hp1 HG02486.hp1 HG02698.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 NA18951.hp2 NA18963.hp2 NA18973.hp1 NA18980.hp2 NA18984.hp1 NA18993.hp2 NA18995.hp1 NA19001.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0046 others(1): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0046 a0001c0001t0047	a0001c0001t0005g0008 a0001c0001t0005g0016 a0001c0001t0005g0017 others(15): Show a0001c0001t0005g0008 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0027 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0016g0083 a0001c0001t0046g0259 a0001c0001t0047g0030	18	260	0.0692	25	c.565 others(44): Show c.565-59200_565-59176dupGTGATATGATAGATCTATCATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP112_chr17_65630537_66197133	65654056	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03704.hp2 HG00741.hp1 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0071 a0001c0002t0001g0075	2	112	0.0179	25	c.269 others(46): Show c.2698-13016_2698-12992dupTTTTTTTTTTTTTTTTTTTTTTTT T	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65870065	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01255.hp1 others(10): Show HG00642.hp1 HG00735.hp1 HG01255.hp1 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02559.hp1 HG02683.hp1 HG03017.hp1 HG03195.hp2 HG03831.hp2 HG06807.hp1 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0008	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0002c0001t0001 a0002c0008t0001	a0001c0002t0001g0046 a0001c0002t0001g0053 a0001c0002t0001g0080 others(10): Show a0001c0002t0001g0046 a0001c0002t0001g0053 a0001c0002t0001g0080 a0001c0003t0001g0062 a0001c0003t0002g0109 a0002c0001t0001g0015 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0038 a0002c0001t0001g0052 a0002c0001t0001g0083 a0002c0001t0001g0100 a0002c0008t0001g0030	13	112	0.1161	25	c.216 others(46): Show c.2164-18032_2164-18031insTCTTTCTTTCTTTCTTTCTTTCTT T	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65936793	T T	TCTCCCCC others(18): Show TCTCCCCCTCCCCCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	112	0.0089	25	c.187 others(44): Show c.1873-9105_1873-9104insGGGGAGGAGGAGGGGGGAGGGGGAG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02004.hp1 HG02027.hp1 others(8): Show HG01261.hp1 HG02004.hp1 HG02027.hp1 HG02080.hp2 HG02148.hp2 HG02155.hp2 HG04115.hp2 NA18612.hp1 NA18612.hp2 NA19063.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0026 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0026 a0001c0013t0002	a0001c0001t0002g0051 a0001c0001t0002g0151 a0001c0001t0002g0227 others(8): Show a0001c0001t0002g0051 a0001c0001t0002g0151 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0260 a0001c0001t0002g0269 a0001c0001t0004g0254 a0001c0001t0026g0259 a0001c0013t0002g0250	11	336	0.0327	25	c.249 others(42): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP128_chr14_80491479_80946738	80729058	G G	GTGTGTGT others(18): Show GTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	164	0.0061	25	c.280 others(46): Show c.2806+14016_2806+14017insACACACACACACACACACACACAC A	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80810323	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	164	0.0061	25	c.121 others(46): Show c.1210-17238_1210-17214dupTTTTTTTTTTTTTTTTTTTTTTTT T	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24			chr14	TogoVar
CEP131_chr17_81184596_81227965	81205336	G G	GGGGTAGG others(18): Show GGGGTAGGAGGGGCCGGCAAGAGTGT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0250 a0005c0006t0001g0250	1	384	0.0026	25	c.515 others(42): Show c.515+1407_515+1408insACACTCTTGCCGGCCCCTCCTACCC	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	5/25			chr17	TogoVar
CEP162_chr6_84119250_84232643	84159547	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp1 HG02258.hp2 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0105 a0001c0005t0004g0106 a0001c0005t0004g0105 a0001c0005t0004g0106	2	214	0.0094	25	c.278 others(44): Show c.2781+1264_2781+1265insAAAAATATATATATATATATATATA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84159547	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0086 a0001c0005t0004g0086	1	214	0.0047	25	c.278 others(44): Show c.2781+1264_2781+1265insAAAAAAATATATATATATATATATA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84159548	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	214	0.0047	25	c.278 others(44): Show c.2781+1263_2781+1264insTATATATATATATATATATATATAT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP170B_chr14_104860268_104901747	104872435	G G	GTGCATGT others(18): Show GTGCATGTGTGTGCGTGTGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01071.hp1 others(22): Show HG00639.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01952.hp1 HG02015.hp1 HG02129.hp2 HG02165.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp2 HG04228.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0082 others(1): Show a0001c0002 a0001c0003 a0001c0082 a0002c0004	a0001c0002t0002 a0001c0003t0002 a0001c0003t0021 others(2): Show a0001c0002t0002 a0001c0003t0002 a0001c0003t0021 a0001c0082t0002 a0002c0004t0002	a0001c0002t0002g0005 a0001c0002t0002g0027 a0001c0002t0002g0182 others(19): Show a0001c0002t0002g0005 a0001c0002t0002g0027 a0001c0002t0002g0182 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0202 a0001c0003t0002g0005 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0193 a0001c0003t0002g0198 a0001c0003t0002g0201 a0001c0003t0002g0204 a0001c0003t0021g0199 a0001c0082t0002g0200 a0002c0004t0002g0203	25	328	0.0762	25	c.106 others(42): Show c.106-3821_106-3820insTGCATGTGTGTGCGTGTGGGTGTGC	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	2/18			chr14	TogoVar
CEP170_chr1_243119428_243260281	243205936	G G	GAAGAAGA others(18): Show GAAGAAGAAAGAAGGAAGAAAAAAGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	303	0.0033	25	c.275 others(42): Show c.275-5126_275-5102dupTCTTTTTTCTTCCTTCTTTCTTCTT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	4/19			chr1	TogoVar
CEP63_chr3_134481057_134570031	134547614	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	322	0.0031	25	c.106 others(42): Show c.1067+157_1067+158insTTTTTTTTTTTTTTTTTTTTTTTTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP85L_chr6_118455772_118656591	118496356	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01123.hp1 others(11): Show HG00323.hp1 HG00741.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01515.hp2 HG01884.hp1 HG02074.hp2 HG02135.hp2 HG02145.hp1 HG02647.hp2 HG02976.hp2 HG03471.hp2 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0030 a0002c0002t0031 a0002c0002t0002 a0002c0002t0030 a0002c0002t0031	a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0194 others(11): Show a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0201 a0002c0002t0002g0208 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0259 a0002c0002t0002g0279 a0002c0002t0030g0182 a0002c0002t0031g0302	14	302	0.0464	25	c.125 others(44): Show c.1258-4516_1258-4492dupTAAAATAAAATAAAATAAAATAAAA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118569341	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03516.hp1 HG02896.hp2 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0189 a0002c0002t0002g0274 a0002c0002t0002g0189 a0002c0002t0002g0274	2	302	0.0066	25	c.233 others(42): Show c.233-3050_233-3026dupTTTTTTTTTTTTTTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(18): Show GGGGGGGGGGGGGGGGGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0224 a0002c0002t0002g0224	1	302	0.0033	25	c.232 others(44): Show c.232+32152_232+32153insACACACACCCCCCCCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP97_chr3_101719614_101775562	101723123	A A	AATATATA others(18): Show AATATATAATATATAATATATATAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02602.hp1 NA18944.hp1 others(4): Show HG00738.hp2 HG02602.hp1 NA18944.hp1 NA18975.hp1 NA19002.hp1 NA19054.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0162 a0001c0001t0002g0172 others(4): Show a0001c0001t0002g0019 a0001c0001t0002g0162 a0001c0001t0002g0172 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0305	7	352	0.0199	25	c.-15 others(36): Show c.-1554_-1553insATATATAATATATAATATATATAAC	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1490		chr3	TogoVar
CEP97_chr3_101719614_101775562	101723145	T T	TAACATAT others(18): Show TAACATATATAATATATAATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02630.hp1 others(3): Show HG02145.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0105 a0001c0001t0007g0106 others(2): Show a0001c0001t0007g0012 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0113	6	352	0.0171	25	c.-15 others(36): Show c.-1532_-1531insAACATATATAATATATAATATATAA	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1468		chr3	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02132.hp1 HG02622.hp1 HG01081.hp1 HG02132.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0007 a0002c0003t0004 a0002c0003t0007	a0002c0003t0004g0099 a0002c0003t0004g0139 a0002c0003t0007g0121 a0002c0003t0004g0099 a0002c0003t0004g0139 a0002c0003t0007g0121	3	298	0.0101	25	c.239 others(42): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0009 a0003c0007t0009	a0003c0007t0009g0141 a0003c0007t0009g0141	1	418	0.0024	25	c.-1- others(42): Show c.-1-19203_-1-19202insTTTTTTTTTTTTTTTTTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8245113	A A	AAAAAACA others(18): Show AAAAAACAAAAAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0241 a0001c0002t0006g0241	1	418	0.0024	25	c.-1- others(40): Show c.-1-5958_-1-5957insCAAAAAAAACAAAAAAAAACAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar

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