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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CENPP_chr9_92320953_92625529	92390587	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 NA18980.hp2 HG01168.hp1 HG01169.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027	3	260	0.0115	18	c.564 others(37): Show c.564+10729_564+10730insTGTGTGTGTGTGCGCGCG		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92416058	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	260	0.0039	18	c.564 others(37): Show c.564+36212_564+36213insATATATATATATATATAT		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92416058	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	260	0.0039	18	c.564 others(37): Show c.564+36200_564+36201insGTGTGTATATATATATAT		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92416058	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	260	0.0039	18	c.564 others(37): Show c.564+36200_564+36201insGTGTGTGTATATATATAT		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92532015	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18970.hp1 NA19000.hp1 others(1): Show HG02145.hp2 NA18970.hp1 NA19000.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0158 a0001c0001t0003g0172 a0001c0001t0003g0181 others(1): Show a0001c0001t0003g0158 a0001c0001t0003g0172 a0001c0001t0003g0181 a0001c0001t0011g0226	4	260	0.0154	18	c.565 others(37): Show c.565-79286_565-79285insTTTTTTTTTTTTTTTTTT		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533320	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0154 a0001c0001t0033g0154	1	260	0.0039	18	c.565 others(37): Show c.565-77993_565-77992insTATATATATATATATATA		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533328	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	260	0.0039	18	c.565 others(37): Show c.565-77985_565-77984insAAAAAAAATATATATATA		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533328	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	260	0.0039	18	c.565 others(37): Show c.565-77985_565-77984insAAAATATATATATATATA		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567395	T T	TATATATA others(11): Show TATATATATATATAGATAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02145.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0226 a0001c0001t0011g0233 a0001c0001t0011g0226 a0001c0001t0011g0233	2	260	0.0077	18	c.565 others(37): Show c.565-43918_565-43917insTATATATATATAGATAGA		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567399	T T	TATATAGA others(11): Show TATATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0192 a0001c0001t0007g0192	1	260	0.0039	18	c.565 others(37): Show c.565-43910_565-43909insGATAGATAGATAGATATA		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPS_chr1_10425433_10447808	10435706	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	410	0.0024	18	c.209 others(35): Show c.209+1017_209+1018insCACACACACACACACACA		CENPS	ENSG00000175279.22	transcript	ENST00000309048.8	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPT_chr16_67823157_67852693	67842406	G G	GGCGGGCC others(11): Show GGCGGGCCGGCTGCGCCGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	266	0.0038	18	c.-49 others(37): Show c.-492+4977_-492+4994dupTCGGCGCAGCCGGCCCGC		CENPT	ENSG00000102901.13	transcript	ENST00000562787.6	protein_coding	1/15						chr16	TogoVar
CENPU_chr4_184689085_184739096	184731883	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01109.hp2 others(14): Show HG00639.hp1 HG00642.hp2 HG01109.hp2 HG01516.hp2 HG02040.hp1 HG02056.hp1 HG02486.hp1 HG02572.hp2 HG02738.hp1 HG03239.hp2 HG03486.hp1 HG03710.hp2 HG04228.hp1 NA18965.hp2 NA19043.hp2 NA19074.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0007c0010	a0001c0001t0001 a0002c0002t0002 a0004c0004t0009 others(1): Show a0001c0001t0001 a0002c0002t0002 a0004c0004t0009 a0007c0010t0001	a0001c0001t0001g0019 a0001c0001t0001g0158 a0001c0001t0001g0182 others(13): Show a0001c0001t0001g0019 a0001c0001t0001g0158 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0237 a0001c0001t0001g0248 a0002c0002t0002g0037 a0004c0004t0009g0296 a0004c0004t0009g0297 a0004c0004t0009g0298 a0007c0010t0001g0137	17	358	0.0475	18	c.48- others(31): Show c.48-933_48-916dupCACACACACACACACACA		CENPU	ENSG00000151725.12	transcript	ENST00000281453.10	protein_coding	1/12						chr4	TogoVar
CENPV_chr17_16337537_16358469	16353349	C C	CGGCCGCG others(11): Show CGGCCGCGGAGGCCGCGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18986.hp2 NA19083.hp2 NA18986.hp2 NA19083.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0019 a0004c0005t0001g0019	2	356	0.0056	18	c.70_ others(23): Show c.70_87dupCCCGCGGCCTCCGCGGCC	p.Ala others(29): Show p.Ala29_Ala30insProAlaAlaSerAlaAla	CENPV	ENSG00000166582.11	transcript	ENST00000299736.5	protein_coding	1/5	120/1132	87/819	29/272			chr17	TogoVar
CENPV_chr17_16337537_16358469	16353372	G G	GCGGAGGC others(11): Show GCGGAGGCCCCGGAGGCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp2 HG02451.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0120 a0009c0011t0001g0120	1	356	0.0028	18	c.64_ others(23): Show c.64_65insGGGCCTCCGGGGCCTCCG	p.Ser others(29): Show p.Ser21_Ala22insGlyAlaSerGlyAlaSer	CENPV	ENSG00000166582.11	transcript	ENST00000299736.5	protein_coding	1/5	97/1132	64/819	22/272			chr17	TogoVar
CEP112_chr17_65630537_66197133	65654056	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0083 a0002c0001t0001g0083	1	112	0.0089	18	c.269 others(39): Show c.2698-13009_2698-12992dupTTTTTTTTTTTTTTTTTT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65916250	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	112	0.0089	18	c.198 others(39): Show c.1980+11314_1980+11331dupACACACACACACACACAC		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65916287	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	112	0.0089	18	c.198 others(39): Show c.1980+11294_1980+11295insTACACACACACACACACA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65916289	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	112	0.0089	18	c.198 others(39): Show c.1980+11292_1980+11293insTACACACACACACACACA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65920362	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01884.hp1 HG03195.hp1 others(1): Show HG00438.hp2 HG01884.hp1 HG03195.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0008 a0001c0002 a0002c0001 a0002c0008	a0001c0002t0001 a0002c0001t0001 a0002c0008t0001 a0001c0002t0001 a0002c0001t0001 a0002c0008t0001	a0001c0002t0001g0091 a0002c0001t0001g0017 a0002c0001t0001g0045 others(1): Show a0001c0002t0001g0091 a0002c0001t0001g0017 a0002c0001t0001g0045 a0002c0008t0001g0030	4	112	0.0357	18	c.198 others(37): Show c.1980+7202_1980+7219dupATATATATATATATATAT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65926713	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02027.hp2 HG02486.hp1 others(5): Show HG01109.hp2 HG02027.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG03688.hp2 NA18985.hp2 NA19240.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0003 a0004c0006 a0006c0010 a0001c0003 a0004c0006 a0006c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0004c0006t0001 a0004c0006t0002 a0006c0010t0001	a0001c0003t0001g0009 a0001c0003t0001g0033 a0001c0003t0001g0074 others(5): Show a0001c0003t0001g0009 a0001c0003t0001g0033 a0001c0003t0001g0074 a0001c0003t0002g0109 a0001c0003t0006g0003 a0004c0006t0001g0022 a0004c0006t0002g0110 a0006c0010t0001g0010	8	112	0.0714	18	c.198 others(35): Show c.1980+851_1980+868dupATTATTATTATTATTATT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65950699	C C	CTATTATT others(11): Show CTATTATTATTAGTAGTAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	112	0.0089	18	c.187 others(39): Show c.1872+10763_1872+10764insCTACTACTAATAATAATA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65950699	C C	CTATTATT others(11): Show CTATTATTATTATTAGTAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp2 HG03041.hp1 others(2): Show HG00741.hp1 HG02257.hp2 HG03041.hp1 HG03704.hp2 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 others(2): Show a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0003t0001g0007	5	112	0.0446	18	c.187 others(39): Show c.1872+10763_1872+10764insCTACTAATAATAATAATA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65950699	C C	CTATTATT others(11): Show CTATTATTATTATTATTAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02027.hp1 HG02055.hp2 others(4): Show HG00735.hp1 HG02027.hp1 HG02055.hp2 HG02451.hp2 HG02486.hp1 NA18983.hp2 NA19002.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0005 a0004c0006 a0001c0002 a0003c0005 a0004c0006	a0001c0002t0001 a0003c0005t0001 a0004c0006t0001 a0001c0002t0001 a0003c0005t0001 a0004c0006t0001	a0001c0002t0001g0046 a0001c0002t0001g0053 a0001c0002t0001g0069 others(4): Show a0001c0002t0001g0046 a0001c0002t0001g0053 a0001c0002t0001g0069 a0001c0002t0001g0084 a0001c0002t0001g0085 a0003c0005t0001g0048 a0004c0006t0001g0022	7	112	0.0625	18	c.187 others(39): Show c.1872+10763_1872+10764insCTAATAATAATAATAATA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65950699	C C	CTATTATT others(11): Show CTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG01081.hp1 others(13): Show HG00280.hp1 HG00438.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01346.hp1 HG01517.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG04199.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0005 a0001c0002 a0001c0003 a0003c0005	a0001c0002t0001 a0001c0003t0007 a0003c0005t0001 a0001c0002t0001 a0001c0003t0007 a0003c0005t0001	a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0047 others(13): Show a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0003t0007g0004 a0003c0005t0001g0055	16	112	0.1429	18	c.187 others(39): Show c.1872+10763_1872+10764insATAATAATAATAATAATA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66025920	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01346.hp1 others(18): Show HG00642.hp2 HG00741.hp1 HG01346.hp1 HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02602.hp1 HG03139.hp1 HG03225.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG04199.hp2 NA18522.hp2 NA18986.hp2 NA19002.hp1 NA19056.hp1 NA19056.hp2 NA19063.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0005 a0001c0002 a0002c0001 a0003c0005	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 others(1): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0003c0005t0001	a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0034 others(18): Show a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0091 a0002c0001t0001g0095 a0002c0001t0001g0097 a0002c0001t0002g0111 a0003c0005t0001g0055	21	112	0.1875	18	c.165 others(37): Show c.1656+1563_1656+1580dupGTGTGTGTGTGTGTGTGT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	16/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66034970	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02622.hp2 HG02976.hp2 others(4): Show HG00438.hp1 HG02622.hp2 HG02976.hp2 HG03041.hp1 HG03704.hp1 HG04199.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0021 others(4): Show a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0072 a0001c0002t0001g0084	7	112	0.0625	18	c.121 others(37): Show c.1219-4948_1219-4947insCACACACACACACACACA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66092356	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 NA19240.hp2 HG01109.hp2 HG02451.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0001c0003t0006 a0002c0001t0003 a0001c0003t0001 a0001c0003t0006 a0002c0001t0003	a0001c0003t0001g0009 a0001c0003t0006g0003 a0002c0001t0003g0019 a0001c0003t0001g0009 a0001c0003t0006g0003 a0002c0001t0003g0019	3	112	0.0268	18	c.768 others(35): Show c.768+3877_768+3894dupGTGTGTGTGTGTGTGTGT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	8/26						chr17	TogoVar
CEP126_chr11_101910010_102006062	101957604	C C	CTGAAAAT others(11): Show CTGAAAATAAGTGAGTACT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00621.hp1 others(41): Show HG00408.hp2 HG00423.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01256.hp1 HG01258.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02155.hp1 HG02683.hp1 HG03239.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG04228.hp1 NA18942.hp2 NA18947.hp1 NA18951.hp2 NA18960.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19058.hp2 NA19060.hp1 NA19076.hp2 NA19077.hp1 NA19085.hp1 NA19088.hp1	a0002 a0007 a0008 others(2): Show a0002 a0007 a0008 a0014 a0015	a0002c0003 a0007c0007 a0008c0010 others(2): Show a0002c0003 a0007c0007 a0008c0010 a0014c0012 a0015c0011	a0002c0003t0003 a0002c0003t0007 a0002c0003t0029 others(5): Show a0002c0003t0003 a0002c0003t0007 a0002c0003t0029 a0002c0003t0059 a0007c0007t0007 a0008c0010t0003 a0014c0012t0051 a0015c0011t0007	a0002c0003t0003g0002 a0002c0003t0003g0011 a0002c0003t0003g0012 others(41): Show a0002c0003t0003g0002 a0002c0003t0003g0011 a0002c0003t0003g0012 a0002c0003t0003g0014 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0019 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0028 a0002c0003t0003g0039 a0002c0003t0003g0049 a0002c0003t0003g0050 a0002c0003t0003g0067 a0002c0003t0003g0069 a0002c0003t0003g0070 a0002c0003t0003g0072 a0002c0003t0003g0073 a0002c0003t0003g0076 a0002c0003t0003g0078 a0002c0003t0003g0109 a0002c0003t0003g0126 a0002c0003t0003g0143 a0002c0003t0003g0144 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0003g0147 a0002c0003t0007g0013 a0002c0003t0007g0018 a0002c0003t0007g0020 a0002c0003t0007g0024 a0002c0003t0007g0025 a0002c0003t0007g0027 a0002c0003t0007g0029 a0002c0003t0007g0074 a0002c0003t0029g0026 a0002c0003t0029g0071 a0002c0003t0059g0075 a0007c0007t0007g0048 a0008c0010t0003g0077 a0014c0012t0051g0002 a0015c0011t0007g0068	44	336	0.1310	18	c.507 others(33): Show c.507-561_507-544dupAAAATAAGTGAGTACTTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	102003186	G G	GTATATAT others(11): Show GTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG02683.hp1 others(7): Show HG00423.hp1 HG00621.hp1 HG02683.hp1 HG02895.hp1 HG04228.hp1 NA18942.hp2 NA18951.hp2 NA18982.hp1 NA18999.hp2 NA19077.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0003 a0005c0006 a0007c0007 a0002c0003 a0005c0006 a0007c0007	a0002c0003t0003 a0002c0003t0007 a0005c0006t0040 others(1): Show a0002c0003t0003 a0002c0003t0007 a0005c0006t0040 a0007c0007t0007	a0002c0003t0003g0011 a0002c0003t0003g0015 a0002c0003t0003g0019 others(7): Show a0002c0003t0003g0011 a0002c0003t0003g0015 a0002c0003t0003g0019 a0002c0003t0003g0021 a0002c0003t0003g0049 a0002c0003t0003g0072 a0002c0003t0003g0076 a0002c0003t0007g0024 a0005c0006t0040g0317 a0007c0007t0007g0048	10	336	0.0298	18	c.55 others(29): Show c.5543_*5544insTATATATATATATATATA		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding					2125		chr11	TogoVar
CEP126_chr11_101910010_102006062	102004895	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA19064.hp2 NA18991.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0002t0001 a0001c0001t0042 a0001c0002t0001	a0001c0001t0042g0080 a0001c0002t0001g0006 a0001c0001t0042g0080 a0001c0002t0001g0006	2	336	0.0060	18	c.72 others(29): Show c.7252_*7253insATATATATATATATATAT		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding					3834		chr11	TogoVar
CEP128_chr14_80491479_80946738	80561896	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03490.hp1 HG03492.hp2 others(2): Show HG02886.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0020 a0001c0001 a0002c0002 a0012c0020	a0001c0001t0001 a0002c0002t0003 a0012c0020t0004 a0001c0001t0001 a0002c0002t0003 a0012c0020t0004	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0002c0002t0003g0066 a0012c0020t0004g0163	5	164	0.0305	18	c.285 others(37): Show c.2857-2595_2857-2594insTATATATATATATATATA		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	20/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80619367	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp1 HG03130.hp2 others(4): Show HG01123.hp2 HG01192.hp1 HG03130.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 NA19012.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0005c0005t0008	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0045 a0002c0002t0003g0079 a0002c0002t0004g0070 a0002c0002t0004g0072 a0005c0005t0008g0150	7	164	0.0427	18	c.280 others(39): Show c.2807-38962_2807-38945dupGTGTGTGTGTGTGTGTGT		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80678045	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0087 a0004c0004t0013g0087	1	164	0.0061	18	c.280 others(39): Show c.2806+65029_2806+65030insATATATATATATATATAT		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80678049	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	164	0.0061	18	c.280 others(39): Show c.2806+65025_2806+65026insATATATATATATATATTT		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80678049	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	164	0.0061	18	c.280 others(39): Show c.2806+65025_2806+65026insATATATATATATATATAT		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80729058	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	164	0.0061	18	c.280 others(39): Show c.2806+13999_2806+14016dupACACACACACACACACAC		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80909371	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0156 a0001c0001t0002g0157	2	164	0.0122	18	c.235 others(35): Show c.235-3308_235-3291dupTGTGTGTGTGTGTGTGTG		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	4/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80935646	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19030.hp1 HG02572.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0005 a0005c0005t0001 a0001c0001t0005 a0005c0005t0001	a0001c0001t0005g0054 a0005c0005t0001g0055 a0001c0001t0005g0054 a0005c0005t0001g0055	2	164	0.0122	18	c.-16 others(35): Show c.-16+3721_-16+3738dupTTTTTTTTTTTTTTTTTT		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	2/24						chr14	TogoVar
CEP131_chr17_81184596_81227965	81205448	G G	GGGGGGGG others(11): Show GGGGGGGGTAGGAGGGGCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0278 a0004c0005t0001g0278	1	384	0.0026	18	c.515 others(35): Show c.515+1295_515+1296insTGCCCCTCCTACCCCCCC		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	5/25						chr17	TogoVar
CEP152_chr15_48732938_48816069	48765636	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp2 HG02818.hp2 others(1): Show HG02717.hp1 HG02809.hp2 HG02818.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0006 a0001c0001t0001g0103 a0001c0001t0001g0108	4	342	0.0117	18	c.228 others(37): Show c.2280+1406_2280+1423dupAAAAAAAAAAAAAAAAAA		CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	17/26						chr15	TogoVar
CEP162_chr6_84119250_84232643	84156743	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp1 HG02818.hp2 HG02965.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0163 a0005c0010t0002g0164 a0005c0010t0002g0163 a0005c0010t0002g0164	2	214	0.0094	18	c.278 others(37): Show c.2782-1251_2782-1234dupGTGTGTGTGTGTGTGTGT		CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26						chr6	TogoVar
CEP164_chr11_117322854_117418266	117355999	G G	GAGCAGCA others(11): Show GAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0230 a0003c0003t0004g0230	1	390	0.0026	18	c.393 others(35): Show c.393+4016_393+4033dupGCAGCAGCAGCAGCAGCA		CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	5/32					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP170B_chr14_104860268_104901747	104872479	G G	GTGTGTGC others(11): Show GTGTGTGCCGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0018 a0018	a0018c0068 a0018c0068	a0018c0068t0019 a0018c0068t0019	a0018c0068t0019g0080 a0018c0068t0019g0080	1	328	0.0031	18	c.106 others(35): Show c.106-3777_106-3776insTGTGTGCCGTGTGTGTGC		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	2/18						chr14	TogoVar
CEP170B_chr14_104860268_104901747	104887449	C C	CACCGGGG others(11): Show CACCGGGGCAGGACGGCTA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18960.hp2 NA18960.hp2	a0021 a0021	a0021c0085 a0021c0085	a0021c0085t0002 a0021c0085t0002	a0021c0085t0002g0223 a0021c0085t0002g0223	1	328	0.0031	18	c.321 others(27): Show c.3211_3228dupACCGGGGCAGGACGGCTA	p.Thr others(15): Show p.Thr1071_Leu1076dup	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	12/19	3502/6727	3229/4665	1077/1554		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170_chr1_243119428_243260281	243159763	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02717.hp2 others(9): Show HG02630.hp1 HG02717.hp1 HG02717.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp1 NA18747.hp1 NA18906.hp2 NA18962.hp2 NA18981.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0049 others(9): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0106 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0257 a0001c0001t0005g0064	12	303	0.0396	18	c.367 others(37): Show c.3677-3326_3677-3309dupCACACACACACACACACA		CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19						chr1	TogoVar
CEP192_chr18_12986362_13130036	13066963	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0027 a0027	a0027c0024 a0027c0024	a0027c0024t0001 a0027c0024t0001	a0027c0024t0001g0359 a0027c0024t0001g0359	1	392	0.0026	18	c.448 others(35): Show c.4489-849_4489-832dupTGTGTGTGTGTGTGTGTG		CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	21/44					INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP295_chr11_93656682_93735358	93707099	C C	CTTTTAAA others(11): Show CTTTTAAATTGTTTTATTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01516.hp1 HG01934.hp2 HG00140.hp2 HG01516.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0176 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0176	3	354	0.0085	18	c.574 others(35): Show c.5749+202_5749+203insTTTTAAATTGTTTTATTA		CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	18/29						chr11	TogoVar
CEP350_chr1_179949810_180119875	180042132	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0010 a0010c0029t0010	a0010c0029t0010g0011 a0010c0029t0010g0011	1	248	0.0040	18	c.436 others(35): Show c.4362+331_4362+332insTCTCACACACACACACAC		CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	19/37					INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP41_chr7_130388771_130446016	130392347	G G	GACACACA others(11): Show GACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0113 a0001c0001t0016g0113	1	346	0.0029	18	c.65 others(29): Show c.6543_*6544insGTGTGTGTGTGTGTGTGT		CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding					1423		chr7	TogoVar

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