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
CERKL_chr2_181531672_181662105	181606239	T T	TGGAAGAC others(9): Show TGGAAGACAAGGAGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00673.hp2 others(41): Show HG00408.hp1 HG00597.hp1 HG00673.hp2 HG01074.hp1 HG01175.hp1 HG01884.hp1 HG01981.hp1 HG02056.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03654.hp1 HG03704.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18962.hp2 NA18964.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19064.hp1 NA19066.hp1 NA19082.hp1 NA19086.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0005c0008 a0006c0012 a0008c0017	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0014t0001 a0005c0008t0001 a0006c0012t0001 a0008c0017t0001	a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 others(41): Show a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0002t0001g0037 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0132 a0001c0010t0001g0007 a0001c0014t0001g0055 a0005c0008t0001g0016 a0005c0008t0001g0017 a0006c0012t0001g0009 a0008c0017t0001g0285	44	298	0.1477	16	c.239 others(33): Show c.239-2176_239-2161dupTTCCTCCTTGTCTTCC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181650079	A A	AAGGGAGG others(9): Show AAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0016 a0005c0008t0001g0016	1	298	0.0034	16	c.238 others(33): Show c.238+6674_238+6689dupCCCTCCCTCCCTCCCT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181650111	G G	GAGGGAGG others(9): Show GAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	298	0.0034	16	c.238 others(33): Show c.238+6657_238+6658insTCCTCCCTCCCTCCCT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERK_chr22_46679410_46743252	46680717	C C	CCCACCCA others(9): Show CCCACCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	340	0.0029	16	c.64 others(27): Show c.6416_*6417insATGGATGGGTGGGTGG	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3692		chr22	TogoVar
CERK_chr22_46679410_46743252	46683983	A A	AAGATTGT others(9): Show AAGATTGTAGTGAGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0288 a0001c0001t0006g0288	1	340	0.0029	16	c.31 others(27): Show c.3150_*3151insCGGCTCACTACAATCT	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		426		chr22	TogoVar
CERK_chr22_46679410_46743252	46691056	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG01169.hp1 others(9): Show HG00738.hp2 HG01168.hp2 HG01169.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp1 HG03516.hp1 NA18906.hp2 NA18963.hp1 NA18998.hp2 NA19056.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0004 a0001c0001t0058 a0001c0004t0017 others(3): Show a0001c0001t0004 a0001c0001t0058 a0001c0004t0017 a0001c0007t0008 a0001c0007t0011 a0001c0007t0016	a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 others(9): Show a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0092 a0001c0001t0058g0194 a0001c0004t0017g0228 a0001c0004t0017g0229 a0001c0004t0017g0260 a0001c0007t0008g0038 a0001c0007t0011g0209 a0001c0007t0016g0203 a0001c0007t0016g0259	12	340	0.0353	16	c.133 others(33): Show c.1332+500_1332+515dupGTGTGTGTGTGTGTGT	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	11/12			chr22	TogoVar
CERS1_chr19_18863545_18901158	18899742	T T	TGGCAACA others(9): Show TGGCAACACAGGGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	380	0.0026	16	c.-36 others(27): Show c.-3686_-3671dupCCCACCCTGTGTTGCC	CERS1	ENSG00000223802.9	transcript	ENST00000623882.4	protein_coding		3585		chr19	TogoVar
CERS3_chr15_100395395_100533950	100466791	T T	TCCTTCCT others(9): Show TCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG01496.hp1 others(3): Show HG00544.hp1 HG00735.hp1 HG01496.hp1 HG03453.hp1 HG03486.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0014 a0001c0001t0001 a0002c0002t0001 a0002c0002t0014	a0001c0001t0001g0008 a0001c0001t0001g0217 a0002c0002t0001g0040 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0217 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0014g0036	6	362	0.0166	16	c.845 others(33): Show c.845+2586_845+2587insGAGGAAGGAAGGAAGG	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466824	C C	CCTCTCTC others(9): Show CCTCTCTCCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0104 a0001c0001t0008g0104	1	362	0.0028	16	c.845 others(33): Show c.845+2553_845+2554insAGAGAGAGGGAGAGAG	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466840	C C	CCTCTCTC others(9): Show CCTCTCTCCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG01071.hp2 others(49): Show HG00438.hp2 HG00639.hp2 HG01071.hp2 HG01099.hp1 HG01361.hp2 HG01928.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02145.hp1 HG02273.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG04228.hp1 NA18747.hp1 NA18942.hp1 NA18948.hp1 NA18965.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0026 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0026 a0001c0001t0027 a0001c0003t0005 a0001c0003t0012 a0001c0003t0016 a0001c0003t0022 a0002c0002t0001 a0002c0002t0036	a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 others(49): Show a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0008g0113 a0001c0001t0026g0139 a0001c0001t0027g0142 a0001c0003t0005g0338 a0001c0003t0012g0348 a0001c0003t0012g0349 a0001c0003t0016g0333 a0001c0003t0022g0350 a0001c0003t0022g0360 a0002c0002t0001g0037 a0002c0002t0036g0025	52	362	0.1437	16	c.845 others(33): Show c.845+2537_845+2538insAGAGAGAGGGAGAGAG	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466841	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18970.hp2 NA18998.hp2 NA18944.hp2 NA18970.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0279 a0001c0001t0019g0249 a0001c0001t0019g0250 a0001c0001t0001g0279 a0001c0001t0019g0249 a0001c0001t0019g0250	3	362	0.0083	16	c.845 others(33): Show c.845+2536_845+2537insAAGAGAGAGAGAGAGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466845	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02109.hp2 HG02735.hp2 HG02015.hp1 HG02109.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0011 a0002c0002t0004g0058 a0002c0002t0004g0273 a0002c0002t0004g0011 a0002c0002t0004g0058 a0002c0002t0004g0273	3	362	0.0083	16	c.845 others(33): Show c.845+2532_845+2533insAAGAGAGAGAGAGAGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100467837	G G	GTATATAT others(9): Show GTATATATATACATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0313 a0002c0002t0009g0313	1	362	0.0028	16	c.845 others(33): Show c.845+1540_845+1541insTATATGTATATATATA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100467846	T T	TATAGATA others(9): Show TATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	362	0.0028	16	c.845 others(33): Show c.845+1531_845+1532insCTATCTATCTATCTAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100467850	T T	TATAGATA others(9): Show TATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG01106.hp1 others(22): Show HG00140.hp2 HG00544.hp1 HG01106.hp1 HG01255.hp2 HG01257.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02698.hp1 NA18951.hp2 NA18956.hp1 NA18966.hp1 NA18970.hp1 NA18977.hp2 NA19004.hp2 NA19054.hp2 NA19058.hp2 NA19065.hp1 NA19072.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0004 a0001c0001t0001 a0001c0001t0003 a0002c0002t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0128 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0003g0127 a0002c0002t0004g0010	25	362	0.0691	16	c.845 others(33): Show c.845+1512_845+1527dupCTATCTATCTATCTAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100467850	T T	TATATATA others(9): Show TATATATAGATAGATAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19064.hp1 NA18941.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0306 a0001c0001t0001g0307	2	362	0.0055	16	c.845 others(33): Show c.845+1527_845+1528insCTATCTATCTATATAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100526478	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00673.hp2 others(48): Show HG00408.hp1 HG00423.hp2 HG00673.hp2 HG01167.hp2 HG01168.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG02055.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG04204.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18970.hp1 NA18972.hp1 NA18983.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19063.hp2 NA19065.hp1 NA19072.hp1 NA19086.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0025 a0001c0003t0040 a0001c0006t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0035 a0002c0002t0036	a0001c0001t0001g0033 a0001c0001t0001g0110 a0001c0001t0001g0167 others(48): Show a0001c0001t0001g0033 a0001c0001t0001g0110 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0269 a0001c0001t0006g0161 a0001c0001t0013g0173 a0001c0001t0013g0176 a0001c0001t0017g0165 a0001c0001t0017g0166 a0001c0001t0024g0164 a0001c0003t0006g0181 a0001c0003t0007g0355 a0001c0003t0007g0356 a0001c0003t0008g0112 a0001c0003t0025g0180 a0001c0003t0040g0319 a0001c0006t0003g0186 a0002c0002t0001g0040 a0002c0002t0001g0057 a0002c0002t0003g0056 a0002c0002t0006g0103 a0002c0002t0035g0024 a0002c0002t0036g0025	51	362	0.1409	16	c.-92 others(33): Show c.-92+2319_-92+2334dupCACACACACACACACA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	1/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02109.hp1 HG02280.hp2 others(6): Show HG01934.hp1 HG02109.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02809.hp2 HG02922.hp1 HG03130.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0013 others(1): Show a0001c0001 a0002c0003 a0002c0013 a0003c0007	a0001c0001t0003 a0001c0001t0017 a0002c0003t0001 others(2): Show a0001c0001t0003 a0001c0001t0017 a0002c0003t0001 a0002c0013t0001 a0003c0007t0003	a0001c0001t0003g0131 a0001c0001t0017g0130 a0002c0003t0001g0400 others(6): Show a0001c0001t0003g0131 a0001c0001t0017g0130 a0002c0003t0001g0400 a0002c0003t0001g0401 a0002c0003t0001g0411 a0002c0013t0001g0129 a0003c0007t0003g0126 a0003c0007t0003g0127 a0003c0007t0003g0128	9	418	0.0215	16	c.-1- others(33): Show c.-1-19218_-1-19203dupTTTTTTTTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8240585	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01361.hp1 others(19): Show HG00733.hp2 HG00735.hp1 HG01361.hp1 HG01952.hp1 HG01993.hp1 HG02145.hp1 HG02258.hp2 HG02602.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18960.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0019 others(3): Show a0001c0001 a0001c0002 a0001c0019 a0002c0003 a0003c0014 a0006c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004 a0001c0019t0002 a0002c0003t0008 a0003c0014t0001 a0006c0010t0001 a0006c0010t0015	a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0243 others(19): Show a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0243 a0001c0001t0002g0314 a0001c0001t0002g0337 a0001c0001t0002g0345 a0001c0001t0002g0355 a0001c0001t0003g0049 a0001c0001t0003g0113 a0001c0001t0003g0161 a0001c0001t0003g0171 a0001c0001t0004g0136 a0001c0001t0012g0288 a0001c0002t0001g0042 a0001c0002t0001g0098 a0001c0002t0001g0396 a0001c0002t0004g0004 a0001c0019t0002g0377 a0002c0003t0008g0395 a0003c0014t0001g0406 a0006c0010t0001g0092 a0006c0010t0015g0093	22	418	0.0526	16	c.-1- others(33): Show c.-1-10476_-1-10461dupGTGTGTGTGTGTGTGT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01515.hp2 HG02027.hp1 others(10): Show HG00558.hp2 HG01515.hp2 HG02027.hp1 HG03225.hp2 HG04184.hp1 HG04204.hp1 NA18947.hp1 NA18982.hp2 NA19055.hp2 NA19070.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0006t0013 a0002c0003t0002	a0001c0001t0001g0205 a0001c0001t0002g0257 a0001c0001t0002g0314 others(10): Show a0001c0001t0001g0205 a0001c0001t0002g0257 a0001c0001t0002g0314 a0001c0001t0002g0362 a0001c0001t0003g0115 a0001c0001t0003g0177 a0001c0001t0003g0197 a0001c0002t0001g0176 a0001c0002t0004g0311 a0001c0002t0004g0323 a0001c0002t0005g0055 a0001c0006t0013g0260 a0002c0003t0002g0262	13	418	0.0311	16	c.51 others(27): Show c.5185_*5186insAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS5_chr12_50124289_50172369	50140284	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 HG02258.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0010 a0001c0001t0005g0011	2	320	0.0063	16	c.493 others(33): Show c.493-1683_493-1668dupAAAAAAAAAAAAAAAA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	4/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148917	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0228 a0001c0002t0009g0228	1	320	0.0031	16	c.198 others(33): Show c.198-4861_198-4860insATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148919	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0253	1	320	0.0031	16	c.198 others(33): Show c.198-4863_198-4862insATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148923	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0311 a0001c0002t0002g0311	1	320	0.0031	16	c.198 others(33): Show c.198-4867_198-4866insATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148925	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19063.hp1 NA18975.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0277 a0001c0002t0002g0292 a0001c0002t0002g0277 a0001c0002t0002g0292	2	320	0.0063	16	c.198 others(33): Show c.198-4869_198-4868insATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148927	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0288 a0001c0002t0002g0288	1	320	0.0031	16	c.198 others(33): Show c.198-4886_198-4871dupATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148946	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02165.hp2 NA18956.hp2 others(2): Show HG01952.hp1 HG02165.hp2 NA18956.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0175 a0001c0002t0002g0239 a0001c0002t0002g0255 others(2): Show a0001c0002t0002g0175 a0001c0002t0002g0239 a0001c0002t0002g0255 a0001c0002t0002g0295 a0001c0002t0002g0310	5	320	0.0156	16	c.198 others(33): Show c.198-4890_198-4889insCATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02055.hp1 HG02132.hp2 others(4): Show HG01358.hp2 HG02055.hp1 HG02132.hp2 HG02809.hp2 HG03017.hp2 NA18962.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0002t0002	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0145 others(4): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0172 a0001c0001t0004g0204 a0001c0001t0016g0276 a0001c0002t0002g0136	7	320	0.0219	16	c.197 others(35): Show c.197+10665_197+10680dupTATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50161784	G G	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02055.hp1 HG02080.hp1 others(3): Show HG00733.hp2 HG02055.hp1 HG02080.hp1 HG02145.hp2 NA18943.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(3): Show a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0003g0179 a0001c0001t0004g0204 a0001c0001t0010g0092	6	320	0.0188	16	c.197 others(33): Show c.197+5301_197+5316dupTTTTTTTTTTTTTTTT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50170566	T T	TATATACA others(9): Show TATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG03130.hp2 HG02717.hp1 HG02896.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0196 a0001c0001t0006g0199 a0001c0001t0006g0202 a0001c0001t0006g0196 a0001c0001t0006g0199 a0001c0001t0006g0202	3	320	0.0094	16	c.-32 others(27): Show c.-3270_-3269insGTGTGTGTGTGTATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding		3198		chr12	TogoVar
CERS6_chr2_168451272_168780134	168464174	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0172 a0001c0001t0008g0172	1	176	0.0057	16	c.170 others(33): Show c.170+7579_170+7594dupTGTGTGTGTGTGTGTG	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02258.hp1 others(7): Show HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02886.hp2 HG02922.hp2 HG03579.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0024 a0001c0002t0007	a0001c0001t0004g0047 a0001c0001t0006g0031 a0001c0001t0006g0032 others(7): Show a0001c0001t0004g0047 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0007g0051 a0001c0001t0007g0105 a0001c0001t0010g0033 a0001c0001t0012g0050 a0001c0001t0024g0053 a0001c0002t0007g0071	10	176	0.0568	16	c.277 others(33): Show c.277-1459_277-1458insTATATATATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168620062	C C	CACACACA others(9): Show CACACACATATACATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0149 a0001c0001t0036g0149	1	176	0.0057	16	c.408 others(35): Show c.408-10922_408-10921insCACACATATACATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168665952	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02895.hp1 HG01255.hp2 HG01884.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0013 a0001c0002t0003 a0001c0001t0012 a0001c0001t0013 a0001c0002t0003	a0001c0001t0012g0127 a0001c0001t0013g0126 a0001c0002t0003g0077 a0001c0001t0012g0127 a0001c0001t0013g0126 a0001c0002t0003g0077	3	176	0.0171	16	c.466 others(35): Show c.466-25058_466-25043dupGTGTGTGTGTGTGTGT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75388599	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	336	0.0030	16	c.128 others(33): Show c.1284+977_1284+992dupATATATATATATATAT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	12/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18906.hp2 HG02896.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0291 a0001c0001t0003g0292	2	336	0.0060	16	c.118 others(35): Show c.1189-3931_1189-3916dupTTTTTTTTTTTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75447445	A A	AATTTATT others(9): Show AATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01516.hp2 HG02486.hp1 others(9): Show HG00642.hp1 HG01516.hp2 HG02486.hp1 HG02698.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03540.hp2 HG04199.hp2 NA18942.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0020 a0001c0001t0003 a0001c0002t0001 a0001c0002t0020	a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 others(9): Show a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0002t0001g0091 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0113 a0001c0002t0020g0007	12	336	0.0357	16	c.348 others(35): Show c.348+11604_348+11619dupAAATAAATAAATAAAT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	3/16			chr5	TogoVar
CES1_chr16_55797851_55838096	55830773	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02735.hp2 HG03704.hp2 HG02698.hp1 HG02735.hp2 HG03704.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0001 a0001c0001t0001 a0007c0009t0001	a0001c0001t0001g0051 a0001c0001t0001g0058 a0007c0009t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0058 a0007c0009t0001g0048	3	87	0.0345	16	c.53- others(31): Show c.53-1815_53-1800dupCTTCCTTCCTTCCTTC	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	1/13			chr16	TogoVar
CES1_chr16_55797851_55838096	55830803	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0040 a0004c0004t0001g0040	1	87	0.0115	16	c.53- others(31): Show c.53-1830_53-1829insCCCTTCCTTCCTTCCT	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	1/13			chr16	TogoVar
CES1_chr16_55797851_55838096	55830815	A A	AAGGCAGG others(9): Show AAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	87	0.0115	16	c.53- others(31): Show c.53-1842_53-1841insGCCTGCCTGCCTGCCT	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	1/13			chr16	TogoVar
CES1_chr16_55797851_55838096	55830819	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	87	0.0115	16	c.53- others(31): Show c.53-1846_53-1845insGCCTTCCTTCCTTCCT	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	1/13			chr16	TogoVar
CES1_chr16_55797851_55838096	55830819	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGCAGGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03490.hp2 HG01256.hp2 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0002 a0001c0001t0001 a0002c0006t0002	a0001c0001t0001g0016 a0002c0006t0002g0068 a0001c0001t0001g0016 a0002c0006t0002g0068	2	87	0.0230	16	c.53- others(31): Show c.53-1846_53-1845insGCCTGCCTTCCTTCCT	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	1/13			chr16	TogoVar
CES1_chr16_55797851_55838096	55830819	A A	AAGGAAGG others(9): Show AAGGAAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19011.hp2 NA18999.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0017 a0001c0001t0001g0018	2	87	0.0230	16	c.53- others(31): Show c.53-1846_53-1845insGCCTGCCTGCCTTCCT	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	1/13			chr16	TogoVar
CES1_chr16_55797851_55838096	55830819	A A	AAGGCAGG others(9): Show AAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18940.hp2 NA18951.hp1 others(1): Show HG00438.hp2 NA18940.hp2 NA18951.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034	4	87	0.0460	16	c.53- others(31): Show c.53-1861_53-1846dupGCCTGCCTGCCTGCCT	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	1/13			chr16	TogoVar
CES1_chr16_55797851_55838096	55835677	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01361.hp1 HG01433.hp1 others(6): Show HG01071.hp1 HG01361.hp1 HG01433.hp1 HG02015.hp2 HG03704.hp2 HG04115.hp1 NA18951.hp2 NA18969.hp1 NA19085.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0009 a0001c0001 a0003c0003 a0007c0009	a0001c0001t0001 a0001c0001t0005 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0003c0003t0001 a0007c0009t0001	a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0046 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0005g0006 a0003c0003t0001g0028 a0007c0009t0001g0048	9	87	0.1035	16	c.-26 others(27): Show c.-2623_-2622insTCCTTCCTTCCTTCCT	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding		2582		chr16	TogoVar
CES5A_chr16_55841154_55880373	55866658	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0042 a0042	a0042c0064 a0042c0064	a0042c0064t0004 a0042c0064t0004	a0042c0064t0004g0094 a0042c0064t0004g0094	1	449	0.0022	16	c.552 others(31): Show c.552-558_552-543dupTTTTTTTTTTTTTTTT	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	4/12			chr16	TogoVar
CETN1_chr18_575380_587114	576446	G G	GAGAGAGG others(9): Show GAGAGAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03579.hp1 HG02615.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0016 a0002c0002t0004 a0001c0001t0016 a0002c0002t0004	a0001c0001t0016g0000 a0002c0002t0004g0000 a0001c0001t0016g0000 a0002c0002t0004g0000	2	422	0.0047	16	c.-39 others(27): Show c.-3963_-3962insAGAGAGGAAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3933		chr18	TogoVar
CETN1_chr18_575380_587114	576446	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	16	c.-39 others(27): Show c.-3963_-3962insAGGAAGGAAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3933		chr18	TogoVar
CETP_chr16_56956950_56988845	56959938	G G	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	462	0.0022	16	c.-20 others(27): Show c.-2042_-2041insGAAAGAAAGAAAGAAA	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		2011		chr16	TogoVar
CETP_chr16_56956950_56988845	56959989	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02280.hp1 HG02735.hp2 others(8): Show HG00642.hp2 HG02280.hp1 HG02735.hp2 HG02896.hp1 HG03490.hp1 HG03831.hp1 NA18939.hp2 NA18983.hp1 NA18986.hp2 NA19010.hp1 NA19057.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0002 a0003c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0225 a0002c0002t0001g0036 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0225 a0002c0002t0001g0036 a0002c0002t0001g0080 a0002c0003t0002g0013 a0002c0003t0002g0034 a0003c0004t0001g0010	11	462	0.0238	16	c.-19 others(27): Show c.-1991_-1990insAGAAAGAAAGAAAGAC	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		1960		chr16	TogoVar

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