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
CDK4_chr12_57742727_57757310	57750153	CAATAAAT others(9): Show CAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	364	0.0028	-16	c.632 others(31): Show c.632+487_632+502delTATTTATTTATTTATT	CDK4	ENSG00000135446.17	transcript	ENST00000257904.11	protein_coding	5/7			chr12	TogoVar
CDK5RAP2_chr9_120383875_120585167	120518202	TGTGTGTG others(9): Show TGTGTGTGTGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0002 a0017c0029t0002	a0017c0029t0002g0228 a0017c0029t0002g0228	1	232	0.0043	-16	c.131 others(33): Show c.1311+209_1311+224delTCTCTCTCACACACAC	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	12/37			chr9	TogoVar
CDK5RAP2_chr9_120383875_120585167	120518206	TGTGTGAG others(9): Show TGTGTGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03516.hp1 HG03209.hp2 HG03516.hp1	a0012 a0018 a0012 a0018	a0012c0027 a0018c0026 a0012c0027 a0018c0026	a0012c0027t0001 a0018c0026t0001 a0012c0027t0001 a0018c0026t0001	a0012c0027t0001g0213 a0018c0026t0001g0216 a0012c0027t0001g0213 a0018c0026t0001g0216	2	232	0.0086	-16	c.131 others(33): Show c.1311+205_1311+220delTCTCTCTCTCTCACAC	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	12/37			chr9	TogoVar
CDK6_chr7_92599921_92841573	92672184	GACACATA others(9): Show GACACATACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0094 a0001c0001t0018g0094	1	124	0.0081	-16	c.538 others(31): Show c.538-665_538-650delGTGTGTGTGTATGTGT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7			chr7	TogoVar
CDK6_chr7_92599921_92841573	92688581	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0109 a0001c0001t0049g0109	1	124	0.0081	-16	c.538 others(35): Show c.538-17062_538-17047delTGTGTGTGTGTGTGTG	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7			chr7	TogoVar
CDK8_chr13_26249129_26410238	26271806	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02132.hp1 HG02523.hp1 others(3): Show HG02004.hp1 HG02132.hp1 HG02523.hp1 NA18941.hp1 NA18941.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0082 a0001c0001t0001g0219 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0082 a0001c0001t0001g0219 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0275	6	328	0.0183	-16	c.128 others(35): Show c.128+17058_128+17073delTTTTTTTTTTTTTTTT	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK8_chr13_26249129_26410238	26362222	AGATGGAT others(9): Show AGATGGATGGATGGATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG03209.hp2 HG02622.hp1 HG02896.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020	3	328	0.0092	-16	c.456 others(33): Show c.456+8374_456+8389delGGATGGATGGATGGAT	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDKAL1_chr6_20529457_21237404	20612990	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG03225.hp2 others(8): Show HG00642.hp2 HG01109.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG03834.hp2 NA18953.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0002c0003	a0001c0001t0026 a0001c0001t0048 a0001c0002t0002 others(7): Show a0001c0001t0026 a0001c0001t0048 a0001c0002t0002 a0001c0004t0001 a0001c0004t0007 a0001c0004t0018 a0001c0004t0037 a0001c0011t0004 a0002c0003t0002 a0002c0003t0005	a0001c0001t0026g0058 a0001c0001t0048g0143 a0001c0002t0002g0047 others(8): Show a0001c0001t0026g0058 a0001c0001t0048g0143 a0001c0002t0002g0047 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0007g0015 a0001c0004t0018g0017 a0001c0004t0037g0098 a0001c0011t0004g0130 a0002c0003t0002g0057 a0002c0003t0005g0053	11	196	0.0561	-16	c.287 others(35): Show c.287-36263_287-36248delCACACACACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20613030	CACACACA others(9): Show CACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0138 a0001c0001t0009g0138	1	196	0.0051	-16	c.287 others(35): Show c.287-36261_287-36246delCACACACACACACAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20613249	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02818.hp2 HG02965.hp2 others(3): Show HG02027.hp1 HG02818.hp2 HG02965.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0001t0018 a0001c0001t0025 others(2): Show a0001c0001t0004 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0009t0004	a0001c0001t0004g0002 a0001c0001t0018g0005 a0001c0001t0025g0060 others(3): Show a0001c0001t0004g0002 a0001c0001t0018g0005 a0001c0001t0025g0060 a0001c0001t0026g0001 a0001c0009t0004g0027 a0001c0009t0004g0028	6	196	0.0306	-16	c.287 others(35): Show c.287-36016_287-36001delTTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20676665	TTAAATAA others(9): Show TTAAATAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0010 a0002c0003t0004 a0002c0003t0010	a0002c0003t0004g0132 a0002c0003t0010g0134 a0002c0003t0004g0132 a0002c0003t0010g0134	2	196	0.0102	-16	c.371 others(35): Show c.371+27313_371+27328delTAAATAAATAAATAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20694046	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02818.hp2 others(2): Show HG02615.hp2 HG02647.hp1 HG02818.hp2 HG03041.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0026 a0001c0008t0011	a0001c0001t0001g0071 a0001c0001t0004g0002 a0001c0001t0026g0001 others(2): Show a0001c0001t0001g0071 a0001c0001t0004g0002 a0001c0001t0026g0001 a0001c0008t0011g0068 a0001c0008t0011g0069	5	196	0.0255	-16	c.371 others(35): Show c.371+44685_371+44700delATGTGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20748554	GGAAAAAA others(9): Show GGAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0132 a0002c0003t0004g0132	1	196	0.0051	-16	c.468 others(33): Show c.468+8940_468+8955delGAAAAAAAAAAAAAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20756838	TTCTTCCT others(9): Show TTCTTCCTTCCTTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG02922.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0031 a0001c0001t0021 a0001c0001t0031	a0001c0001t0021g0177 a0001c0001t0031g0004 a0001c0001t0021g0177 a0001c0001t0031g0004	2	196	0.0102	-16	c.469 others(33): Show c.469-1756_469-1741delTCTTCCTTCCTTCTCC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20756854	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp1 NA18906.hp1 others(1): Show HG03225.hp1 HG03471.hp1 NA18906.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0004 a0001c0002t0013 a0001c0009t0004 a0001c0001t0004 a0001c0002t0013 a0001c0009t0004	a0001c0001t0004g0002 a0001c0002t0013g0118 a0001c0009t0004g0019 others(1): Show a0001c0001t0004g0002 a0001c0002t0013g0118 a0001c0009t0004g0019 a0001c0009t0004g0027	4	196	0.0204	-16	c.469 others(33): Show c.469-1686_469-1671delTTCCTTCCTTCCTTCC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20784412	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03516.hp2 HG02109.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0011 a0001c0001t0005 a0001c0002t0011	a0001c0001t0005g0137 a0001c0002t0011g0131 a0001c0001t0005g0137 a0001c0002t0011g0131	2	196	0.0102	-16	c.638 others(33): Show c.638+3161_638+3176delTTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20810392	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01934.hp2 HG01978.hp2 others(3): Show HG00621.hp2 HG01934.hp2 HG01978.hp2 NA18948.hp2 NA18966.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 others(2): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0002t0028 a0002c0007t0005	a0001c0002t0003g0032 a0001c0002t0005g0064 a0001c0002t0013g0034 others(3): Show a0001c0002t0003g0032 a0001c0002t0005g0064 a0001c0002t0013g0034 a0001c0002t0028g0117 a0002c0007t0005g0061 a0002c0007t0005g0062	6	196	0.0306	-16	c.638 others(35): Show c.638+29165_638+29180delACACACACACACACAC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20810627	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02145.hp1 HG02818.hp1 others(5): Show HG00642.hp1 HG02145.hp1 HG02818.hp1 HG03490.hp2 HG03579.hp2 HG03831.hp1 HG04184.hp1 HG04228.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0007 others(1): Show a0001c0001 a0001c0002 a0002c0007 a0005c0014	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0034 a0002c0007t0029 a0002c0007t0038 a0005c0014t0008	a0001c0001t0001g0136 a0001c0001t0009g0138 a0001c0002t0001g0148 others(5): Show a0001c0001t0001g0136 a0001c0001t0009g0138 a0001c0002t0001g0148 a0001c0002t0003g0008 a0001c0002t0034g0182 a0002c0007t0029g0014 a0002c0007t0038g0173 a0005c0014t0008g0119	8	196	0.0408	-16	c.638 others(35): Show c.638+29385_638+29400delGTGTGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20902311	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01106.hp1 others(9): Show HG00099.hp2 HG00639.hp1 HG01106.hp1 HG01167.hp1 HG01257.hp2 HG01258.hp1 HG01516.hp1 HG01934.hp2 HG02109.hp2 HG02257.hp2 HG03491.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0005 a0001c0001t0012 a0001c0002t0005 others(6): Show a0001c0001t0005 a0001c0001t0012 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0028 a0001c0002t0049 a0001c0004t0001 a0002c0003t0002	a0001c0001t0005g0137 a0001c0001t0012g0163 a0001c0002t0005g0064 others(9): Show a0001c0001t0005g0137 a0001c0001t0012g0163 a0001c0002t0005g0064 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0006g0110 a0001c0002t0009g0183 a0001c0002t0028g0117 a0001c0002t0049g0059 a0001c0004t0001g0099 a0002c0003t0002g0144 a0002c0003t0002g0157	12	196	0.0612	-16	c.743 others(35): Show c.743-53075_743-53060delCACACACACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20920983	TGAAAGTT others(9): Show TGAAAGTTTTCTCTTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0002c0003 a0002c0007 a0003c0015 a0004c0016 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(89): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0020 a0001c0002t0028 a0001c0002t0033 a0001c0002t0034 a0001c0002t0040 a0001c0002t0041 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0047 a0001c0002t0049 a0001c0004t0001 a0001c0004t0004 a0001c0004t0007 a0001c0004t0018 a0001c0004t0037 a0001c0005t0001 a0001c0005t0004 a0001c0005t0006 a0001c0005t0007 a0001c0005t0021 a0001c0006t0002 a0001c0006t0003 a0001c0006t0006 a0001c0006t0009 a0001c0008t0004 a0001c0008t0011 a0001c0009t0004 a0001c0010t0002 a0001c0010t0007 a0001c0010t0017 a0001c0011t0004 a0001c0012t0008 a0001c0012t0022 a0001c0013t0004 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0010 a0002c0003t0013 a0002c0003t0020 a0002c0007t0002 a0002c0007t0005 a0002c0007t0029 a0002c0007t0030 a0002c0007t0036 a0002c0007t0038 a0003c0015t0010 a0004c0016t0001 a0005c0014t0008	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 others(183): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0002g0042 a0001c0001t0002g0124 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0155 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0003g0082 a0001c0001t0003g0113 a0001c0001t0003g0149 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0004g0002 a0001c0001t0004g0031 a0001c0001t0004g0083 a0001c0001t0004g0097 a0001c0001t0005g0137 a0001c0001t0005g0189 a0001c0001t0006g0011 a0001c0001t0006g0179 a0001c0001t0007g0043 a0001c0001t0007g0164 a0001c0001t0008g0016 a0001c0001t0008g0054 a0001c0001t0008g0123 a0001c0001t0008g0159 a0001c0001t0009g0138 a0001c0001t0010g0035 a0001c0001t0010g0051 a0001c0001t0010g0109 a0001c0001t0012g0163 a0001c0001t0014g0067 a0001c0001t0014g0072 a0001c0001t0015g0095 a0001c0001t0015g0186 a0001c0001t0015g0191 a0001c0001t0016g0178 a0001c0001t0017g0112 a0001c0001t0018g0005 a0001c0001t0019g0145 a0001c0001t0019g0147 a0001c0001t0021g0177 a0001c0001t0023g0115 a0001c0001t0023g0169 a0001c0001t0024g0152 a0001c0001t0024g0158 a0001c0001t0025g0021 a0001c0001t0025g0060 a0001c0001t0026g0001 a0001c0001t0026g0058 a0001c0001t0027g0120 a0001c0001t0027g0180 a0001c0001t0031g0004 a0001c0001t0032g0196 a0001c0001t0035g0160 a0001c0001t0042g0142 a0001c0001t0046g0077 a0001c0001t0048g0143 a0001c0002t0001g0108 a0001c0002t0001g0148 a0001c0002t0001g0174 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0063 a0001c0002t0002g0090 a0001c0002t0002g0195 a0001c0002t0003g0008 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0032 a0001c0002t0003g0055 a0001c0002t0003g0066 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0114 a0001c0002t0003g0140 a0001c0002t0003g0165 a0001c0002t0003g0170 a0001c0002t0003g0184 a0001c0002t0005g0064 a0001c0002t0005g0161 a0001c0002t0005g0175 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0006g0110 a0001c0002t0007g0154 a0001c0002t0007g0187 a0001c0002t0008g0040 a0001c0002t0009g0183 a0001c0002t0011g0131 a0001c0002t0012g0039 a0001c0002t0012g0076 a0001c0002t0012g0151 a0001c0002t0013g0034 a0001c0002t0013g0118 a0001c0002t0013g0122 a0001c0002t0016g0045 a0001c0002t0020g0116 a0001c0002t0028g0103 a0001c0002t0028g0117 a0001c0002t0033g0193 a0001c0002t0034g0182 a0001c0002t0040g0125 a0001c0002t0041g0012 a0001c0002t0043g0190 a0001c0002t0044g0038 a0001c0002t0045g0153 a0001c0002t0047g0146 a0001c0002t0049g0059 a0001c0004t0001g0099 a0001c0004t0001g0101 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0004g0102 a0001c0004t0004g0133 a0001c0004t0007g0015 a0001c0004t0007g0022 a0001c0004t0018g0017 a0001c0004t0037g0098 a0001c0005t0001g0009 a0001c0005t0004g0033 a0001c0005t0006g0085 a0001c0005t0007g0084 a0001c0005t0021g0026 a0001c0006t0002g0166 a0001c0006t0003g0029 a0001c0006t0003g0030 a0001c0006t0006g0023 a0001c0006t0006g0111 a0001c0006t0009g0078 a0001c0008t0004g0105 a0001c0008t0011g0068 a0001c0008t0011g0069 a0001c0008t0011g0181 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 a0001c0010t0002g0106 a0001c0010t0007g0044 a0001c0010t0017g0194 a0001c0011t0004g0100 a0001c0011t0004g0130 a0001c0012t0008g0129 a0001c0012t0022g0135 a0001c0013t0004g0006 a0002c0003t0002g0013 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0003g0107 a0002c0003t0004g0132 a0002c0003t0005g0036 a0002c0003t0005g0053 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0005g0121 a0002c0003t0010g0134 a0002c0003t0013g0037 a0002c0003t0020g0075 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062 a0002c0007t0029g0014 a0002c0007t0030g0025 a0002c0007t0036g0024 a0002c0007t0038g0173 a0003c0015t0010g0171 a0004c0016t0001g0185 a0005c0014t0008g0119	186	196	0.9490	-16	c.743 others(35): Show c.743-34433_743-34418delAAGTTTTCTCTTTAGA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20982048	CTTATTTA others(9): Show CTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG02055.hp2 others(4): Show HG01167.hp2 HG01243.hp2 HG02055.hp2 HG02280.hp2 HG02723.hp2 HG03041.hp1 HG03471.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0007 a0004c0016	a0001c0001t0025 a0001c0002t0028 a0001c0004t0004 others(4): Show a0001c0001t0025 a0001c0002t0028 a0001c0004t0004 a0001c0012t0022 a0002c0007t0030 a0002c0007t0036 a0004c0016t0001	a0001c0001t0025g0021 a0001c0002t0028g0103 a0001c0004t0004g0133 others(4): Show a0001c0001t0025g0021 a0001c0002t0028g0103 a0001c0004t0004g0133 a0001c0012t0022g0135 a0002c0007t0030g0025 a0002c0007t0036g0024 a0004c0016t0001g0185	7	196	0.0357	-16	c.910 others(35): Show c.910-18158_910-18143delTTATTTATTTATTTAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21016612	TCATCCAT others(9): Show TCATCCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp1 HG01255.hp1 others(9): Show HG00323.hp1 HG01109.hp1 HG01255.hp1 HG01358.hp1 HG01891.hp1 HG02300.hp2 HG03195.hp1 HG03490.hp1 HG06807.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0006 a0001c0005t0004 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0005t0004 a0001c0005t0014 a0001c0005t0016 a0001c0005t0050 a0001c0006t0003 a0001c0006t0006 a0001c0006t0009 a0001c0006t0039	a0001c0001t0002g0141 a0001c0001t0006g0011 a0001c0005t0004g0033 others(9): Show a0001c0001t0002g0141 a0001c0001t0006g0011 a0001c0005t0004g0033 a0001c0005t0014g0093 a0001c0005t0016g0086 a0001c0005t0050g0088 a0001c0006t0003g0029 a0001c0006t0003g0030 a0001c0006t0006g0092 a0001c0006t0006g0111 a0001c0006t0009g0078 a0001c0006t0039g0091	12	196	0.0612	-16	c.105 others(37): Show c.1055+16285_1055+16300delCATCCATCCATCCATC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21069770	CTTTCTTT others(9): Show CTTTCTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0085 a0001c0005t0006g0085	1	196	0.0051	-16	c.123 others(35): Show c.1236+4546_1236+4561delCTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21093694	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02129.hp2 HG02559.hp1 others(4): Show HG00673.hp1 HG02129.hp2 HG02559.hp1 HG02572.hp1 HG04204.hp1 NA18994.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003	a0001c0001t0002 a0001c0001t0023 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0001t0023 a0001c0002t0003 a0001c0006t0006 a0001c0008t0011 a0002c0003t0002	a0001c0001t0002g0168 a0001c0001t0023g0169 a0001c0002t0003g0074 others(4): Show a0001c0001t0002g0168 a0001c0001t0023g0169 a0001c0002t0003g0074 a0001c0002t0003g0114 a0001c0006t0006g0023 a0001c0008t0011g0181 a0002c0003t0002g0013	7	196	0.0357	-16	c.123 others(37): Show c.1237-14682_1237-14667delTTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL2_chr4_75571496_75635528	75595960	GGAAGGAA others(9): Show GGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02735.hp2 HG03209.hp2 others(5): Show HG01943.hp2 HG02735.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03704.hp1 NA18953.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0162 a0001c0001t0001g0196 a0001c0001t0001g0215 others(5): Show a0001c0001t0001g0162 a0001c0001t0001g0196 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0002g0189 a0001c0001t0002g0190	8	306	0.0261	-16	c.141 others(33): Show c.1416+271_1416+286delTTTCCTTCCTTCCTTC	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	10/13			chr4	TogoVar
CDKL2_chr4_75571496_75635528	75596017	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp1 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0090 a0001c0001t0009g0093 a0001c0001t0009g0090 a0001c0001t0009g0093	2	306	0.0065	-16	c.141 others(33): Show c.1416+214_1416+229delTCTTCCTTCCTTCCTT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	10/13			chr4	TogoVar
CDKL2_chr4_75571496_75635528	75629938	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02809.hp1 HG06807.hp2 HG01243.hp1 HG02809.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0088 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0088 a0001c0001t0009g0089 a0001c0001t0009g0090	3	306	0.0098	-16	c.-30 others(30): Show c.-30+88_-30+103delTTTTTTTTTTTTTTTT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	1/13			chr4	TogoVar
CDKL3_chr5_134293424_134372171	134297890	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	210	0.0048	-16	c.74 others(25): Show c.745_*760delCACACACACACACACA	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding		533		chr5	TogoVar
CDKL3_chr5_134293424_134372171	134354713	CTGAGGCA others(9): Show CTGAGGCAGGTGGATCA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	210	0.0048	-16	c.361 others(33): Show c.361-4302_361-4287delTGATCCACCTGCCTCA	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	3/12			chr5	TogoVar
CDKL4_chr2_39170646_39248970	39185168	ATATATAT others(9): Show ATATATATACATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03453.hp2 HG02895.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0207 a0001c0003t0001g0012 a0001c0003t0001g0207	2	290	0.0069	-16	c.736 others(31): Show c.736-537_736-522delCACATATGTATATATA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	7/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39217701	ATTATTTA others(9): Show ATTATTTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG01099.hp1 others(51): Show HG00140.hp1 HG00408.hp2 HG01099.hp1 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03927.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18973.hp1 NA18983.hp1 NA19030.hp2 NA19043.hp2 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0022 others(50): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0189 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0021 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0006g0011 a0001c0001t0006g0073	54	290	0.1862	-16	c.291 others(33): Show c.291-4245_291-4230delATAAATAAATAAATAA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	3/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39220997	TTTTGTTT others(9): Show TTTTGTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	290	0.0035	-16	c.290 others(33): Show c.290+4826_290+4841delCAAAAAAAAAAACAAA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	3/9			chr2	TogoVar
CDKL5_chrX_18420608_18645196	18481320	GTTTCTTT others(9): Show GTTTCTTTCTTTCTTTC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02717.hp1 others(2): Show HG01070.hp2 HG01071.hp2 HG02717.hp1 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 others(1): Show a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0056	a0001c0001t0014g0012 a0001c0001t0023g0021 a0001c0001t0024g0095 others(2): Show a0001c0001t0014g0012 a0001c0001t0023g0021 a0001c0001t0024g0095 a0001c0001t0024g0096 a0001c0001t0056g0144	5	192	0.0260	-16	c.-16 others(37): Show c.-162-25579_-162-25564delCTTTCTTTCTTTCTTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18536432	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0147 a0001c0001t0016g0147	1	192	0.0052	-16	c.99+ others(33): Show c.99+25595_99+25610delTTTTTTTTTTTTTTTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	CCTCTCTC others(9): Show CCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01943.hp1 HG01952.hp1 others(19): Show HG00544.hp1 HG01943.hp1 HG01952.hp1 HG02040.hp1 HG02293.hp1 HG03041.hp2 HG03490.hp1 HG03540.hp1 NA18747.hp1 NA18940.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18983.hp1 NA18986.hp1 NA18990.hp1 NA18995.hp1 NA19002.hp1 NA19005.hp1 NA19056.hp1 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0019 a0001c0001t0042 a0001c0001t0052	a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0093 others(19): Show a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0003g0020 a0001c0001t0003g0070 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0109 a0001c0001t0005g0098 a0001c0001t0005g0099 a0001c0001t0005g0108 a0001c0001t0007g0019 a0001c0001t0008g0054 a0001c0001t0016g0147 a0001c0001t0019g0028 a0001c0001t0019g0037 a0001c0001t0042g0178 a0001c0001t0052g0086	22	192	0.1146	-16	c.249 others(35): Show c.2496+1462_2496+1477delTCTCTCTCTCTCTCTC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36681263	CTTTTCTT others(9): Show CTTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0372 a0005c0009t0001g0372	1	454	0.0022	-16	c.-6+ others(31): Show c.-6+2482_-6+2497delTTTTCTTTCTTTCTTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1C_chr11_2878218_2890775	2889097	GAAGAAGA others(9): Show GAAGAAGAAGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	417	0.0048	-16	c.-34 others(27): Show c.-3490_-3475delTCTTCTTCTTCTTCTT	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding		3323		chr11	TogoVar
CDKN2A_chr9_21962752_21999392	21981076	ATATATAT others(9): Show ATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03225.hp2 HG02630.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0275 a0001c0001t0003g0152 a0001c0001t0001g0275 a0001c0001t0003g0152	2	404	0.0050	-16	c.194 others(33): Show c.194-9884_194-9869delCACGTATATATATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21987432	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20905.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0174 a0001c0001t0001g0106 a0001c0001t0001g0174	2	404	0.0050	-16	c.193 others(33): Show c.193+6691_193+6706delCTCTCTCTCTCTCTCT	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDON_chr11_125951821_126067866	125996161	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0022 a0003c0026t0022	a0003c0026t0022g0195 a0003c0026t0022g0195	1	334	0.0030	-16	c.236 others(35): Show c.2362+1030_2362+1045delGTGTGTGTGTGTGTGT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	12/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126050495	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18995.hp1 NA19077.hp1 HG01358.hp2 NA18995.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0003 a0001c0001t0020 a0002c0002t0003	a0001c0001t0020g0230 a0002c0002t0003g0231 a0002c0002t0003g0232 a0001c0001t0020g0230 a0002c0002t0003g0231 a0002c0002t0003g0232	3	334	0.0090	-16	c.-62 others(35): Show c.-62+12068_-62+12083delGTGTGTGTGTGTGTGT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126056321	AACCCCCA others(9): Show AACCCCCAATGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0165 a0001c0001t0013g0165	1	334	0.0030	-16	c.-62 others(33): Show c.-62+6242_-62+6257delGGATTTCATTGGGGGT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126057664	TTAGTATA others(9): Show TTAGTATACATTAGCTG	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0017 a0002c0003t0005g0017	1	334	0.0030	-16	c.-62 others(33): Show c.-62+4899_-62+4914delCAGCTAATGTATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126059550	TACAAAAA others(9): Show TACAAAAAAGGCACTGC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	334	0.0030	-16	c.-62 others(33): Show c.-62+3013_-62+3028delGCAGTGCCTTTTTTGT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126061338	CTTTCTAG others(9): Show CTTTCTAGTTAAGCACT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0247 a0001c0009t0004g0247	1	334	0.0030	-16	c.-62 others(33): Show c.-62+1225_-62+1240delAGTGCTTAACTAGAAA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126064450	CCACCACA others(9): Show CCACCACACCCAGCCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0048 a0001c0004t0003g0048	1	334	0.0030	-16	c.-19 others(27): Show c.-1949_-1934delCTGGCTGGGTGTGGTG	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		1585		chr11	TogoVar
CDON_chr11_125951821_126067866	126064502	TCTATTGT others(9): Show TCTATTGTTCACTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0018 a0004c0005t0018	a0004c0005t0018g0078 a0004c0005t0018g0078	1	334	0.0030	-16	c.-20 others(27): Show c.-2001_-1986delCAAAAGTGAACAATAG	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		1637		chr11	TogoVar
CDON_chr11_125951821_126067866	126064717	ACAGTGCC others(9): Show ACAGTGCCATTTGAATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	334	0.0030	-16	c.-22 others(27): Show c.-2216_-2201delAATTCAAATGGCACTG	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		1852		chr11	TogoVar
CDR2L_chr17_74982632_75010800	74997032	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0058 a0001c0002t0009g0058	1	352	0.0028	-16	c.80- others(31): Show c.80-2432_80-2417delCTTTCTTTCTTTCTTT	CDR2L	ENSG00000109089.7	transcript	ENST00000337231.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDR2_chr16_22340936_22379619	22371848	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	310	0.0032	-16	c.79+ others(31): Show c.79+2367_79+2382delCACACACACACACACA	CDR2	ENSG00000140743.8	transcript	ENST00000268383.7	protein_coding	1/4			chr16	TogoVar

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