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
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01257.hp1 HG01258.hp2 others(1): Show HG00280.hp2 HG01257.hp1 HG01258.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0150 a0001c0001t0002g0311 a0001c0001t0002g0312 others(1): Show a0001c0001t0001g0150 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0316	4	340	0.0118	26	c.72- others(39): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF5_chr19_3219661_3302076	3299553	C C	CTTCTTCT others(19): Show CTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18999.hp1 HG02083.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0129 a0001c0001t0006g0070 a0001c0001t0004g0129 a0001c0001t0006g0070	2	262	0.0076	26	c.28 others(37): Show c.2836_*2837insTTCTTCTTCTTCTTCTTCTTCTTCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2478		chr19	TogoVar
CELF5_chr19_3219661_3302076	3299578	T T	TTCTTCTT others(19): Show TTCTTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	262	0.0038	26	c.28 others(37): Show c.2861_*2862insTCTTCTTCTTCTTCTTCTTCTTCTTC	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2503		chr19	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTATATAT others(19): Show CTATATATATATATATGTATATACACG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0025 a0001c0023t0025	a0001c0023t0025g0256 a0001c0023t0025g0256	1	320	0.0031	26	c.204 others(45): Show c.2049+1613_2049+1614insCGTGTATATACATATATATATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	320	0.0031	26	c.204 others(45): Show c.2049+1613_2049+1614insTATATATATAGAGAGAGAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728267	A A	ATATATAT others(19): Show ATATATATACGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00735.hp2 others(25): Show HG00140.hp1 HG00609.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG02602.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp1 HG06807.hp2 NA18954.hp1 NA18964.hp1 NA18969.hp1 NA18994.hp1 NA19007.hp1 NA19063.hp2 NA19087.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0004c0003 a0011c0019 a0001c0001 a0004c0003 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0039 a0004c0003t0001 a0004c0003t0002 a0004c0003t0005 a0004c0003t0014 a0004c0003t0051 a0011c0019t0001	a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0205 others(25): Show a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0205 a0001c0001t0001g0285 a0001c0001t0001g0297 a0001c0001t0002g0139 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0294 a0001c0001t0002g0315 a0001c0001t0003g0028 a0001c0001t0005g0228 a0001c0001t0010g0029 a0001c0001t0012g0204 a0001c0001t0014g0284 a0001c0001t0027g0151 a0001c0001t0027g0201 a0001c0001t0039g0240 a0004c0003t0001g0156 a0004c0003t0001g0208 a0004c0003t0002g0207 a0004c0003t0005g0133 a0004c0003t0005g0192 a0004c0003t0014g0158 a0004c0003t0014g0179 a0004c0003t0051g0210 a0011c0019t0001g0183 a0011c0019t0001g0188	28	320	0.0875	26	c.204 others(45): Show c.2049+1577_2049+1578insCGTATATATATATATACGTATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728267	A A	ATATATAT others(19): Show ATATATATACGTGTATATATATATACG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	320	0.0031	26	c.204 others(45): Show c.2049+1577_2049+1578insCGTATATATATATACACGTATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728273	A A	ATATACAC others(19): Show ATATACACGTATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18997.hp1 NA19005.hp2 HG01993.hp1 NA18997.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0057 a0002c0002t0001g0069 a0002c0002t0001g0041 a0002c0002t0001g0057 a0002c0002t0001g0069	3	320	0.0094	26	c.204 others(45): Show c.2049+1571_2049+1572insCGTGTATATATATATATACGTGTATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728312	T T	TACGTATA others(19): Show TACGTATATTATATACTATATATTATA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	320	0.0031	26	c.204 others(45): Show c.2049+1532_2049+1533insTATAATATATAGTATATAATATACGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71746596	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0230 a0005c0017t0001g0230	1	320	0.0031	26	c.332 others(41): Show c.332-256_332-255insTTTTTTTTTTTTTTTTTTTTTTTTTT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	2/23			chr9	TogoVar
CEMIP_chr15_80774370_80956771	80829990	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0244 a0001c0002t0001g0244	1	254	0.0039	26	c.-17 others(47): Show c.-175-43536_-175-43535insTGTGTGTGTGTGTTTGTGTGTGTG TG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80832322	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01168.hp1 HG01192.hp1 others(2): Show HG00438.hp1 HG01168.hp1 HG01192.hp1 NA18986.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0009 a0005c0015 a0001c0001 a0003c0009 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0003c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0009t0001 a0005c0015t0012	a0001c0001t0001g0100 a0001c0001t0002g0142 a0003c0009t0001g0099 others(2): Show a0001c0001t0001g0100 a0001c0001t0002g0142 a0003c0009t0001g0099 a0003c0009t0001g0101 a0005c0015t0012g0217	5	254	0.0197	26	c.-17 others(47): Show c.-175-41202_-175-41177dupGTGTGTGTGTGTGTGTGTGTGTGT GT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900638	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTCTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0007 a0007	a0007c0035 a0007c0035	a0007c0035t0001 a0007c0035t0001	a0007c0035t0001g0160 a0007c0035t0001g0160	1	254	0.0039	26	c.141 others(45): Show c.1411+4589_1411+4590insGTCTGTGTGTGTGTCTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900638	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18522.hp1 NA18973.hp2 HG02280.hp2 NA18522.hp1 NA18973.hp2	a0001 a0011 a0001 a0011	a0001c0011 a0001c0019 a0011c0027 a0001c0011 a0001c0019 a0011c0027	a0001c0011t0001 a0001c0019t0021 a0011c0027t0002 a0001c0011t0001 a0001c0019t0021 a0011c0027t0002	a0001c0011t0001g0252 a0001c0019t0021g0094 a0011c0027t0002g0178 a0001c0011t0001g0252 a0001c0019t0021g0094 a0011c0027t0002g0178	3	254	0.0118	26	c.141 others(45): Show c.1411+4589_1411+4590insGTGTGTGTGTGTGTCTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMP1_chr16_2525035_2536408	2533430	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18971.hp2 NA18972.hp2 others(4): Show NA18939.hp2 NA18971.hp2 NA18972.hp2 NA18993.hp2 NA19000.hp2 NA19060.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	348	0.0201	26	c.-23 others(37): Show c.-2358_-2357insAAAAAAAAAAAAAAAAAAAAAAAAAA	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		2023		chr16	TogoVar
CENPC_chr4_67463762_67550503	67491478	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	338	0.0030	26	c.251 others(43): Show c.2515+701_2515+702insCTCTCTCTCTCTCTCTCTCTCTCTCT	CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	16/18			chr4	TogoVar
CENPC_chr4_67463762_67550503	67491480	T T	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	338	0.0030	26	c.251 others(43): Show c.2515+699_2515+700insCTCTCTCTCTCTCTCTCTCTCTCTAT	CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	16/18			chr4	TogoVar
CENPE_chr4_103100811_103203343	103112975	A A	AGTGTATA others(19): Show AGTGTATATATATACTTATAAGTATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18979.hp1 NA18981.hp2 NA18940.hp2 NA18979.hp1 NA18981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0066 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0066 a0003c0003t0001g0123 a0003c0003t0001g0124	3	320	0.0094	26	c.754 others(45): Show c.7540+1454_7540+1479dupATATACTTATAAGTATATATATACAC	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103113031	A A	AGTGTATA others(19): Show AGTGTATATATATACTTATAAGTATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0125 a0003c0003t0001g0125	1	320	0.0031	26	c.754 others(45): Show c.7540+1398_7540+1423dupATATACTTATAAGTATATATATACAC	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103132956	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0296 a0006c0008t0001g0296	1	320	0.0031	26	c.672 others(41): Show c.6721-61_6721-60insTATATATATATATATATATATATATA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103132956	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0298 a0006c0008t0001g0298	1	320	0.0031	26	c.672 others(41): Show c.6721-61_6721-60insTATATATATATATATATATATATAAA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103132960	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG01099.hp1 others(23): Show HG00673.hp2 HG00741.hp1 HG01099.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp2 HG02109.hp2 HG02602.hp1 HG03017.hp2 HG03225.hp2 HG03491.hp2 HG03654.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 NA18953.hp2 NA18961.hp1 NA18962.hp2 NA18970.hp1 NA18978.hp1 NA18994.hp2 NA19000.hp1 NA19006.hp2 NA19057.hp2 NA19064.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0004 a0002c0002 a0003c0003 others(1): Show a0001c0004 a0002c0002 a0003c0003 a0012c0023	a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 a0012c0023t0001	a0001c0004t0001g0294 a0002c0002t0001g0022 a0002c0002t0001g0023 others(23): Show a0001c0004t0001g0294 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0048 a0002c0002t0001g0054 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0003c0003t0001g0106 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0131 a0003c0003t0001g0146 a0012c0023t0001g0057	26	320	0.0813	26	c.672 others(41): Show c.6721-65_6721-64insTATATATATATATATATATATATATA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPI_chrX_101093204_101171126	101162469	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0014 a0001c0002t0005g0014	1	282	0.0036	26	c.213 others(43): Show c.2137-363_2137-362insTATATATATATATATATATATATATA	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	21/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPJ_chr13_24877279_24927861	24881880	A A	ATAGATAC others(19): Show ATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0028 a0001c0002t0007g0028	1	440	0.0023	26	c.12 others(37): Show c.1296_*1297insGATGTATCTATATATAGATGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		398		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881902	A A	ATAGATAC others(19): Show ATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0266 a0013c0017t0001g0266	1	440	0.0023	26	c.12 others(37): Show c.1274_*1275insGATGTATCTATATATAGATGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		376		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881924	A A	ATAGATAC others(19): Show ATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 NA19090.hp2 HG01975.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0090 a0001c0001t0004g0015 a0001c0001t0004g0090	2	440	0.0046	26	c.12 others(37): Show c.1252_*1253insGATGTATCTATATATAGATGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		354		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881946	A A	ATAGATAC others(19): Show ATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0004 a0001c0022t0004	a0001c0022t0004g0148 a0001c0022t0004g0148	1	440	0.0023	26	c.12 others(37): Show c.1230_*1231insGATGTATCTATATATAGATGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		332		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(19): Show CTATATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	440	0.0023	26	c.12 others(37): Show c.1214_*1215insTATAGATGTATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881980	C C	CTATATAG others(19): Show CTATATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0003 a0002c0003t0003g0003	1	440	0.0023	26	c.11 others(37): Show c.1196_*1197insTATAGATGTATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		298		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882004	A A	ATAGATAC others(19): Show ATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0102 a0002c0003t0003g0102	1	440	0.0023	26	c.11 others(37): Show c.1172_*1173insGATGTATCTATATATAGATGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		274		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882005	G G	GAGATACA others(19): Show GAGATACATCTATATAGAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01358.hp2 HG00280.hp2 HG01358.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0095 a0004c0006t0004g0096 a0004c0006t0004g0095 a0004c0006t0004g0096	2	440	0.0046	26	c.11 others(37): Show c.1171_*1172insAGATGTATCTCTATATAGATGTATCT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		273		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882026	A A	ATAGATAC others(19): Show ATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0142 a0001c0001t0014g0142	1	440	0.0023	26	c.11 others(37): Show c.1150_*1151insGATGTATCTATATATAGATGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		252		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882027	G G	GAGATACA others(19): Show GAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0007 a0004c0006t0004g0094 a0004c0006t0004g0007 a0004c0006t0004g0094	2	440	0.0046	26	c.11 others(37): Show c.1149_*1150insAGATGTATCTATATATAGATGTATCT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		251		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882089	T T	TATAGATA others(19): Show TATAGATATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	440	0.0023	26	c.10 others(37): Show c.1087_*1088insCTATATAGATGTATCTATATATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		189		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882133	G G	GATATATA others(19): Show GATATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19082.hp2 NA19068.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0159 a0001c0004t0001g0246 a0001c0002t0001g0159 a0001c0004t0001g0246	2	440	0.0046	26	c.10 others(37): Show c.1043_*1044insATATCTATATAGATGTATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		145		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882151	G G	GATATATA others(19): Show GATATATAGATACATCTATGTAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01081.hp2 others(7): Show HG00140.hp2 HG00280.hp2 HG01081.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG02055.hp1 HG03139.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0004 a0001c0001t0014 a0004c0006t0004 others(1): Show a0001c0001t0004 a0001c0001t0014 a0004c0006t0004 a0004c0006t0013	a0001c0001t0004g0152 a0001c0001t0014g0142 a0004c0006t0004g0007 others(5): Show a0001c0001t0004g0152 a0001c0001t0014g0142 a0004c0006t0004g0007 a0004c0006t0004g0035 a0004c0006t0004g0094 a0004c0006t0004g0095 a0004c0006t0004g0096 a0004c0006t0013g0093	10	440	0.0227	26	c.10 others(37): Show c.1025_*1026insATATCTACATAGATGTATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		127		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882169	G G	GATATATA others(19): Show GATATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	440	0.0023	26	c.10 others(37): Show c.1007_*1008insATATCTATATAGATGTATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		109		chr13	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(19): Show GTGTGTGTATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	260	0.0039	26	c.467 others(43): Show c.467+6719_467+6720insGTGTGTATACATATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(19): Show GTGTGTGTGTATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18968.hp2 NA18977.hp2 HG03490.hp2 NA18968.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0141 a0001c0001t0003g0225 a0001c0001t0008g0010 a0001c0001t0001g0141 a0001c0001t0003g0225 a0001c0001t0008g0010	3	260	0.0115	26	c.467 others(43): Show c.467+6719_467+6720insGTGTGTGTATACATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTATACATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18969.hp1 HG02145.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0198 a0001c0001t0003g0159 a0001c0001t0001g0198 a0001c0001t0003g0159	2	260	0.0077	26	c.467 others(43): Show c.467+6719_467+6720insGTGTGTGTGTATACATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTATACATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	260	0.0039	26	c.467 others(43): Show c.467+6719_467+6720insGTGTGTGTGTGTATACATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533358	T T	TATATATA others(19): Show TATATATATATATATATATGCTTTGGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0228 a0001c0001t0023g0228	1	260	0.0039	26	c.565 others(45): Show c.565-77956_565-77955insATATATATATATATATATGCTTTGGG	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7			chr9	TogoVar
CENPP_chr9_92320953_92625529	92567395	T T	TATATATA others(19): Show TATATATATATATATATATATAGATAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0219 a0001c0001t0011g0219	1	260	0.0039	26	c.565 others(45): Show c.565-43918_565-43917insTATATATATATATATATATAGATAGA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPT_chr16_67823157_67852693	67841010	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	266	0.0038	26	c.-49 others(45): Show c.-491-5378_-491-5353dupATATATATATATATATATATATATAT	CENPT	ENSG00000102901.13	transcript	ENST00000562787.6	protein_coding	1/15			chr16	TogoVar
CENPU_chr4_184689085_184739096	184731883	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG02647.hp1 HG02922.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0293 a0004c0004t0009g0294 a0004c0004t0009g0293 a0004c0004t0009g0294	2	358	0.0056	26	c.48- others(39): Show c.48-941_48-916dupCACACACACACACACACACACACACA	CENPU	ENSG00000151725.12	transcript	ENST00000281453.10	protein_coding	1/12			chr4	TogoVar
CEP112_chr17_65630537_66197133	65815123	C C	CCCTATGT others(19): Show CCCTATGTTTCTTCCAAGGGTTTTATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03041.hp2 HG01891.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0001 a0002c0007t0001 a0001c0003t0001 a0002c0007t0001	a0001c0003t0001g0005 a0002c0007t0001g0108 a0001c0003t0001g0005 a0002c0007t0001g0108	2	112	0.0179	26	c.239 others(47): Show c.2394+36655_2394+36680dupTATAAAACCCTTGGAAGAAACATA GG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65920362	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20129.hp1 HG02622.hp1 NA20129.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0063 a0002c0001t0001g0079 a0002c0001t0001g0063 a0002c0001t0001g0079	2	112	0.0179	26	c.198 others(45): Show c.1980+7194_1980+7219dupATATATATATATATATATATATATAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65970362	T T	TATTACAT others(19): Show TATTACATGCACACATCATGCATGTAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00642.hp1 others(48): Show HG00280.hp2 HG00438.hp2 HG00642.hp1 HG00735.hp2 HG01081.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03492.hp1 HG03579.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA19002.hp1 NA19063.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0004 others(2): Show a0001c0003 a0002c0001 a0002c0004 a0002c0007 a0002c0008	a0001c0003t0001 a0002c0001t0001 a0002c0001t0004 others(4): Show a0001c0003t0001 a0002c0001t0001 a0002c0001t0004 a0002c0001t0008 a0002c0004t0001 a0002c0007t0001 a0002c0008t0001	a0001c0003t0001g0005 a0001c0003t0001g0042 a0001c0003t0001g0082 others(48): Show a0001c0003t0001g0005 a0001c0003t0001g0042 a0001c0003t0001g0082 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0107 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0023 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0043 a0002c0001t0001g0044 a0002c0001t0001g0045 a0002c0001t0001g0049 a0002c0001t0001g0052 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0079 a0002c0001t0001g0083 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0004g0001 a0002c0001t0008g0040 a0002c0004t0001g0029 a0002c0004t0001g0041 a0002c0007t0001g0108 a0002c0008t0001g0030	51	112	0.4554	26	c.173 others(45): Show c.1737-8765_1737-8764insTTACATGCATGATGTGTGCATGTAAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66034972	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	112	0.0089	26	c.121 others(45): Show c.1219-4950_1219-4949insTATACACACACACACACACACACACA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66034972	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0048 a0003c0005t0001g0048	1	112	0.0089	26	c.121 others(45): Show c.1219-4950_1219-4949insTACACACACACACACACACACACACA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26			chr17	TogoVar

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