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
CDK17_chr12_96273261_96405439	96402170	TCCAAAGC others(11): Show TCCAAAGCACCCTCTCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0078 a0001c0001t0008g0078	1	346	0.0029	-18	c.-22 others(29): Show c.-2232_-2215delGAGGAGAGGGTGCTTTGG		CDK17	ENSG00000059758.8	transcript	ENST00000261211.8	protein_coding					1732		chr12	TogoVar
CDK19_chr6_110604978_110820469	110617662	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0268 a0001c0001t0036g0268	1	300	0.0033	-18	c.137 others(37): Show c.1378-3014_1378-2997delGTGTGTGTGTGTGTGTGT		CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	12/12						chr6	TogoVar
CDK20_chr9_87961441_87979533	87971478	GAATCAGA others(11): Show GAATCAGAGAGCTCGATGC	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0075 a0005c0009t0002g0075	1	440	0.0023	-18	c.190 others(33): Show c.190-161_190-144delGCATCGAGCTCTCTGATT		CDK20	ENSG00000156345.18	transcript	ENST00000325303.9	protein_coding	2/7						chr9	TogoVar
CDK2AP1_chr12_123255976_123276856	123258457	CCAGTTGT others(11): Show CCAGTTGTGCCTCTGATGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	328	0.0031	-18	c.32 others(29): Show c.3261_*3278delACATCAGAGGCACAACTG		CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding					2518		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123264462	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	328	0.0031	-18	c.280 others(33): Show c.280+716_280+733delTTTTTTTTTTTTTTTTTT		CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding	3/3						chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123270411	AACGTTTG others(11): Show AACGTTTGCAAACAAGGCC	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	328	0.0031	-18	c.55+ others(33): Show c.55+1135_55+1152delGGCCTTGTTTGCAAACGT		CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding	1/3						chr12	TogoVar
CDK5RAP2_chr9_120383875_120585167	120518204	TGTGTGTG others(11): Show TGTGTGTGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	232	0.0043	-18	c.131 others(35): Show c.1311+205_1311+222delTCTCTCTCTCTCACACAC		CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	12/37						chr9	TogoVar
CDK6_chr7_92599921_92841573	92688581	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	124	0.0081	-18	c.538 others(37): Show c.538-17064_538-17047delTGTGTGTGTGTGTGTGTG		CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7						chr7	TogoVar
CDK8_chr13_26249129_26410238	26271806	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01175.hp1 others(7): Show HG00280.hp1 HG00323.hp1 HG01175.hp1 HG01261.hp2 HG02451.hp2 HG02683.hp2 HG02735.hp2 HG03516.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(7): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0186	10	328	0.0305	-18	c.128 others(37): Show c.128+17056_128+17073delTTTTTTTTTTTTTTTTTT		CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
CDKAL1_chr6_20529457_21237404	20589694	TTTATTAG others(11): Show TTTATTAGTTTTTCTCATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01243.hp2 others(14): Show HG00642.hp1 HG01109.hp2 HG01243.hp2 HG01256.hp2 HG02109.hp1 HG02145.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp2 HG04204.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0013 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0025 a0001c0001t0031 a0001c0002t0003 a0001c0002t0041 a0001c0004t0007 a0001c0004t0018 a0001c0005t0001 a0001c0013t0004 a0002c0003t0002 a0002c0007t0029	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0006g0011 a0001c0001t0008g0016 a0001c0001t0018g0005 a0001c0001t0025g0021 a0001c0001t0031g0004 a0001c0002t0003g0008 a0001c0002t0003g0010 a0001c0002t0041g0012 a0001c0004t0007g0015 a0001c0004t0018g0017 a0001c0005t0001g0009 a0001c0013t0004g0006 a0002c0003t0002g0013 a0002c0007t0029g0014	17	196	0.0867	-18	c.286 others(37): Show c.286+41010_286+41027delATTAGTTTTTCTCATATT		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20612990	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01361.hp1 HG02055.hp2 others(3): Show HG01255.hp2 HG01361.hp1 HG02055.hp2 HG02572.hp1 HG02897.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0011 a0001c0012	a0001c0001t0004 a0001c0004t0001 a0001c0004t0004 others(3): Show a0001c0001t0004 a0001c0004t0001 a0001c0004t0004 a0001c0006t0006 a0001c0011t0004 a0001c0012t0022	a0001c0001t0004g0031 a0001c0004t0001g0101 a0001c0004t0004g0102 others(3): Show a0001c0001t0004g0031 a0001c0004t0001g0101 a0001c0004t0004g0102 a0001c0006t0006g0023 a0001c0011t0004g0100 a0001c0012t0022g0135	6	196	0.0306	-18	c.287 others(37): Show c.287-36265_287-36248delCACACACACACACACACA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20613028	CACACACA others(11): Show CACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0005 a0001c0001t0018g0005	1	196	0.0051	-18	c.287 others(37): Show c.287-36263_287-36246delCACACACACACACACAAA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20613249	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(18): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00621.hp1 HG00639.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG02559.hp1 HG02818.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 NA18948.hp2 NA18954.hp2 NA18983.hp1 NA19002.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0002t0006 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0034 a0001c0002t0040 a0001c0006t0003 a0001c0006t0006 a0001c0008t0011 a0002c0003t0003 a0002c0007t0005	a0001c0001t0001g0126 a0001c0001t0001g0176 a0001c0001t0001g0192 others(18): Show a0001c0001t0001g0126 a0001c0001t0001g0176 a0001c0001t0001g0192 a0001c0001t0002g0124 a0001c0001t0003g0113 a0001c0001t0005g0189 a0001c0001t0008g0123 a0001c0001t0010g0109 a0001c0001t0017g0112 a0001c0002t0006g0052 a0001c0002t0006g0110 a0001c0002t0012g0076 a0001c0002t0013g0122 a0001c0002t0020g0116 a0001c0002t0034g0182 a0001c0002t0040g0125 a0001c0006t0003g0029 a0001c0006t0006g0111 a0001c0008t0011g0181 a0002c0003t0003g0107 a0002c0007t0005g0062	21	196	0.1071	-18	c.287 others(37): Show c.287-36018_287-36001delTTTTTTTTTTTTTTTTTT		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20642899	AAACAACA others(11): Show AAACAACAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(55): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG02027.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18948.hp1 NA18954.hp2 NA18957.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA19005.hp2 NA19043.hp2 NA19085.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0002c0003 a0002c0007 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0028 a0001c0002t0034 a0001c0002t0040 a0001c0005t0004 a0001c0005t0007 a0001c0005t0021 a0001c0006t0003 a0001c0006t0006 a0001c0008t0004 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0010 a0002c0003t0020 a0002c0007t0030 a0002c0007t0036 a0005c0014t0008	a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0104 others(55): Show a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0104 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0002g0124 a0001c0001t0003g0082 a0001c0001t0003g0113 a0001c0001t0003g0156 a0001c0001t0004g0083 a0001c0001t0005g0137 a0001c0001t0008g0123 a0001c0001t0009g0138 a0001c0001t0010g0109 a0001c0001t0014g0067 a0001c0001t0014g0072 a0001c0001t0015g0095 a0001c0001t0017g0112 a0001c0001t0018g0005 a0001c0001t0021g0177 a0001c0001t0023g0115 a0001c0001t0026g0058 a0001c0001t0027g0120 a0001c0001t0032g0196 a0001c0001t0046g0077 a0001c0002t0001g0108 a0001c0002t0002g0063 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0066 a0001c0002t0003g0073 a0001c0002t0003g0114 a0001c0002t0012g0076 a0001c0002t0013g0118 a0001c0002t0013g0122 a0001c0002t0020g0116 a0001c0002t0028g0103 a0001c0002t0028g0117 a0001c0002t0034g0182 a0001c0002t0040g0125 a0001c0005t0004g0033 a0001c0005t0007g0084 a0001c0005t0021g0026 a0001c0006t0003g0029 a0001c0006t0003g0030 a0001c0006t0006g0111 a0001c0008t0004g0105 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0003g0107 a0002c0003t0004g0132 a0002c0003t0005g0121 a0002c0003t0010g0134 a0002c0003t0020g0075 a0002c0007t0030g0025 a0002c0007t0036g0024 a0005c0014t0008g0119	58	196	0.2959	-18	c.287 others(35): Show c.287-6365_287-6348delACAACAACAACAACAACA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20748554	GGAAAAAA others(11): Show GGAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03453.hp2 HG03471.hp1 others(2): Show HG02559.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0009 a0001c0001 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0008t0011 a0001c0009t0004 a0001c0001t0001 a0001c0008t0011 a0001c0009t0004	a0001c0001t0001g0003 a0001c0008t0011g0181 a0001c0009t0004g0019 others(2): Show a0001c0001t0001g0003 a0001c0008t0011g0181 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028	5	196	0.0255	-18	c.468 others(35): Show c.468+8940_468+8957delGAAAAAAAAAAAAAAAAA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15						chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20810392	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01106.hp1 others(21): Show HG00099.hp2 HG00639.hp1 HG01106.hp1 HG01167.hp1 HG01255.hp2 HG01516.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp2 HG02622.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG04204.hp1 NA19010.hp1 NA19043.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0012 a0002c0003 a0004c0016	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(16): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0002t0006 a0001c0002t0009 a0001c0002t0041 a0001c0002t0044 a0001c0002t0049 a0001c0004t0001 a0001c0004t0004 a0001c0004t0037 a0001c0005t0004 a0001c0008t0004 a0001c0011t0004 a0001c0012t0022 a0002c0003t0002 a0004c0016t0001	a0001c0001t0001g0018 a0001c0001t0008g0016 a0001c0001t0012g0163 others(21): Show a0001c0001t0001g0018 a0001c0001t0008g0016 a0001c0001t0012g0163 a0001c0001t0016g0178 a0001c0001t0021g0177 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0006g0110 a0001c0002t0009g0183 a0001c0002t0041g0012 a0001c0002t0044g0038 a0001c0002t0049g0059 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0004g0102 a0001c0004t0004g0133 a0001c0004t0037g0098 a0001c0005t0004g0033 a0001c0008t0004g0105 a0001c0011t0004g0100 a0001c0011t0004g0130 a0001c0012t0022g0135 a0002c0003t0002g0013 a0004c0016t0001g0185	24	196	0.1225	-18	c.638 others(37): Show c.638+29163_638+29180delACACACACACACACACAC		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20909181	ATGTATGT others(11): Show ATGTATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	196	0.0051	-18	c.743 others(37): Show c.743-46234_743-46217delATGTGTGTGTGTGTGTGT		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20913116	TACACACA others(11): Show TACACACACACACACACAC	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	-18	c.743 others(37): Show c.743-42277_743-42260delCACACACACACACACACA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21093694	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01106.hp2 others(8): Show HG00099.hp1 HG00639.hp2 HG01106.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01943.hp1 HG02818.hp1 HG03579.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0002t0002 a0001c0002t0012 a0001c0002t0034 a0001c0002t0040	a0001c0001t0002g0141 a0001c0001t0003g0149 a0001c0001t0003g0156 others(8): Show a0001c0001t0002g0141 a0001c0001t0003g0149 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0001t0015g0191 a0001c0002t0002g0195 a0001c0002t0012g0076 a0001c0002t0034g0182 a0001c0002t0040g0125	11	196	0.0561	-18	c.123 others(39): Show c.1237-14684_1237-14667delTTTTTTTTTTTTTTTTTT		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL1_chr14_50321265_50401881	50385070	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(119): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01256.hp1 HG01257.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp2 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0070 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0106 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0027 a0002c0002t0028 a0002c0002t0033 a0002c0002t0079 a0002c0002t0088 a0002c0002t0089 a0002c0002t0091 a0002c0002t0092 a0002c0002t0095 a0002c0002t0100 a0002c0002t0101 a0002c0002t0105 a0002c0002t0126 a0003c0003t0127 a0005c0005t0137 a0005c0005t0138	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(118): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0004g0115 a0001c0001t0012g0071 a0001c0001t0017g0166 a0001c0001t0017g0167 a0001c0001t0017g0168 a0001c0001t0018g0011 a0001c0001t0019g0190 a0001c0001t0019g0193 a0001c0001t0019g0199 a0001c0001t0024g0100 a0001c0001t0024g0101 a0001c0001t0026g0242 a0001c0001t0031g0091 a0001c0001t0031g0093 a0001c0001t0032g0094 a0001c0001t0034g0198 a0001c0001t0034g0218 a0001c0001t0036g0229 a0001c0001t0036g0230 a0001c0001t0037g0232 a0001c0001t0037g0233 a0001c0001t0070g0124 a0001c0001t0085g0006 a0001c0001t0086g0172 a0001c0001t0087g0165 a0001c0001t0090g0171 a0001c0001t0096g0028 a0001c0001t0098g0066 a0001c0001t0099g0031 a0001c0001t0106g0092 a0001c0001t0108g0097 a0001c0001t0112g0178 a0001c0001t0113g0206 a0001c0001t0114g0196 a0001c0001t0118g0201 a0001c0001t0119g0180 a0001c0001t0120g0192 a0002c0002t0003g0116 a0002c0002t0005g0023 a0002c0002t0005g0025 a0002c0002t0005g0039 a0002c0002t0005g0048 a0002c0002t0005g0049 a0002c0002t0005g0051 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0007g0072 a0002c0002t0007g0074 a0002c0002t0007g0075 a0002c0002t0008g0053 a0002c0002t0009g0015 a0002c0002t0009g0038 a0002c0002t0009g0040 a0002c0002t0009g0050 a0002c0002t0009g0055 a0002c0002t0010g0183 a0002c0002t0010g0186 a0002c0002t0010g0187 a0002c0002t0010g0188 a0002c0002t0010g0189 a0002c0002t0027g0007 a0002c0002t0027g0010 a0002c0002t0028g0076 a0002c0002t0033g0203 a0002c0002t0079g0158 a0002c0002t0088g0170 a0002c0002t0089g0169 a0002c0002t0091g0073 a0002c0002t0092g0084 a0002c0002t0095g0047 a0002c0002t0100g0070 a0002c0002t0101g0024 a0002c0002t0105g0090 a0002c0002t0126g0226 a0003c0003t0127g0225 a0005c0005t0137g0256 a0005c0005t0138g0257	122	306	0.3987	-18	c.168 others(37): Show c.168+10613_168+10630delTTTTTTTTTTTTTTTTTT		CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9						chr14	TogoVar
CDKL2_chr4_75571496_75635528	75574389	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG04184.hp2 NA18940.hp1 others(2): Show HG02818.hp1 HG04184.hp2 NA18940.hp1 NA18953.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0227 a0001c0001t0001g0241 others(2): Show a0001c0001t0001g0184 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0262 a0001c0001t0001g0300	5	306	0.0163	-18	c.47 others(29): Show c.4795_*4812delTTTTTTTTTTTTTTTTTT		CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding					2106		chr4	TogoVar
CDKL2_chr4_75571496_75635528	75629938	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp2 HG02647.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0085 a0001c0001t0013g0086 a0001c0001t0013g0085 a0001c0001t0013g0086	2	306	0.0065	-18	c.-30 others(32): Show c.-30+86_-30+103delTTTTTTTTTTTTTTTTTT		CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	1/13						chr4	TogoVar
CDKL3_chr5_134293424_134372171	134297890	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG06807.hp1 NA18522.hp2 others(1): Show HG02572.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0002 a0001c0001t0002g0075 a0001c0001t0002g0077	4	210	0.0191	-18	c.74 others(27): Show c.743_*760delCACACACACACACACACA		CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding					533		chr5	TogoVar
CDKL3_chr5_134293424_134372171	134326815	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02300.hp1 HG01109.hp1 HG02300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0044 a0003c0006t0001g0021 a0001c0001t0001g0044 a0003c0006t0001g0021	2	210	0.0095	-18	c.540 others(35): Show c.540-4930_540-4913delTATATATATATATATACA		CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12						chr5	TogoVar
CDKL3_chr5_134293424_134372171	134326817	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG03486.hp2 HG02055.hp2 HG02258.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0097 a0001c0001t0001g0163 a0001c0001t0001g0164	3	210	0.0143	-18	c.540 others(35): Show c.540-4932_540-4915delTATATATATATATATATA		CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12						chr5	TogoVar
CDKL3_chr5_134293424_134372171	134326850	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	210	0.0048	-18	c.540 others(35): Show c.540-4965_540-4948delGTATATATATATATATAT		CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12						chr5	TogoVar
CDKL5_chrX_18420608_18645196	18536432	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0191 a0001c0001t0004g0192	2	192	0.0104	-18	c.99+ others(35): Show c.99+25593_99+25610delTTTTTTTTTTTTTTTTTT		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	192	0.0052	-18	c.249 others(37): Show c.2496+1460_2496+1477delTCTCTCTCTCTCTCTCTC		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18636336	TTTATTAT others(11): Show TTTATTATTATTATTATTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG03130.hp1 others(1): Show HG02965.hp1 HG03098.hp1 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 others(1): Show a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0009g0135	4	192	0.0208	-18	c.76 others(29): Show c.7609_*7626delATTATTATTATTATTATT		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	18/18				7609	INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1C_chr11_2878218_2890775	2884872	CGGGGCCG others(11): Show CGGGGCCGGGGCCGGGGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0035 a0009c0015t0001g0035	1	417	0.0024	-18	c.567 others(25): Show c.567_584delAGCCCCGGCCCCGGCCCC	p.Ala others(13): Show p.Ala190_Pro195del	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding	2/4	736/1773	567/918	189/305			chr11	TogoVar
CDNF_chr10_14814245_14843037	14826014	CAGAAGAA others(11): Show CAGAAGAAGAAGAAGGAGA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	418	0.0024	-18	c.244 others(33): Show c.244-412_244-395delTCTCCTTCTTCTTCTTCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDNF_chr10_14814245_14843037	14826029	GAGAAGAA others(11): Show GAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	418	0.0024	-18	c.244 others(33): Show c.244-427_244-410delTCTTCTTCTTCTTCTTCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDNF_chr10_14814245_14843037	14826080	AAGAAGAA others(11): Show AAGAAGAAGAAGAAGAAGC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	418	0.0024	-18	c.244 others(33): Show c.244-478_244-461delGCTTCTTCTTCTTCTTCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDNF_chr10_14814245_14843037	14826086	AAGAAGAA others(11): Show AAGAAGAAGAAGCAGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	418	0.0024	-18	c.244 others(33): Show c.244-484_244-467delGCTGCTGCTTCTTCTTCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDNF_chr10_14814245_14843037	14826089	AAGAAGAA others(11): Show AAGAAGAAGCAGCAGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	418	0.0024	-18	c.244 others(33): Show c.244-487_244-470delGCTGCTGCTGCTTCTTCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDNF_chr10_14814245_14843037	14826092	AAGAAGCA others(11): Show AAGAAGCAGCAGCAGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02602.hp2 HG04204.hp1 others(4): Show HG01175.hp1 HG02602.hp2 HG04204.hp1 NA18940.hp2 NA18956.hp2 NA19055.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0235 a0001c0001t0002g0243 a0001c0001t0002g0244 others(3): Show a0001c0001t0002g0235 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0250 a0001c0001t0003g0026 a0001c0001t0003g0245	7	418	0.0168	-18	c.244 others(33): Show c.244-490_244-473delGCTGCTGCTGCTGCTTCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDNF_chr10_14814245_14843037	14826095	AAGCAGCA others(11): Show AAGCAGCAGCAGCAGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp1 HG02622.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0329 a0001c0001t0002g0220 a0001c0001t0002g0329	2	418	0.0048	-18	c.244 others(33): Show c.244-493_244-476delGCTGCTGCTGCTGCTGCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDR2L_chr17_74982632_75010800	74997062	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00741.hp2 others(30): Show HG00280.hp2 HG00733.hp1 HG00741.hp2 HG01346.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02486.hp1 HG02683.hp1 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG04115.hp2 HG04199.hp1 NA18988.hp1 NA18992.hp2 NA18993.hp1 NA19054.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19083.hp2 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0020 a0001c0001t0028 others(4): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0028 a0001c0002t0002 a0001c0003t0002 a0001c0003t0015 a0001c0003t0016	a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0041 others(24): Show a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0084 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0020g0205 a0001c0001t0028g0207 a0001c0002t0002g0085 a0001c0003t0002g0072 a0001c0003t0015g0067 a0001c0003t0016g0031	33	352	0.0938	-18	c.80- others(33): Show c.80-2440_80-2423delCTTTCTTTCTTTCTTTCT		CDR2L	ENSG00000109089.7	transcript	ENST00000337231.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr17	TogoVar
CDS1_chr4_84578127_84656334	84599395	CACACACA others(11): Show CACACACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02897.hp1 others(1): Show HG02145.hp2 HG02451.hp1 HG02897.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0026	a0001c0001t0002g0012 a0001c0001t0009g0088 a0001c0001t0012g0009 others(1): Show a0001c0001t0002g0012 a0001c0001t0009g0088 a0001c0001t0012g0009 a0001c0001t0026g0008	4	384	0.0104	-18	c.118 others(35): Show c.118-4846_118-4829delCACACACACATATATATA		CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS2_chr20_5122008_5202887	5202777	CACAGACA others(11): Show CACAGACACACACACACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0014 a0001c0001t0045g0014	1	348	0.0029	-18	c.12 others(31): Show c.12544_*12561delACAGACACACACACACAG		CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding					4891		chr20	TogoVar
CDYL2_chr16_80592907_80809598	80709561	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0065 a0001c0007t0014g0065	1	258	0.0039	-18	c.25- others(35): Show c.25-24450_25-24433delGTGTGTGTGTGTGTGTGT		CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6						chr16	TogoVar
CDYL2_chr16_80592907_80809598	80748122	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp1 HG02258.hp1 others(5): Show HG00639.hp2 HG01255.hp1 HG02258.hp1 HG02572.hp2 HG02818.hp2 HG02896.hp2 HG02970.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0009	a0001c0001t0010 a0001c0002t0005 a0001c0002t0039 others(5): Show a0001c0001t0010 a0001c0002t0005 a0001c0002t0039 a0001c0004t0003 a0001c0004t0004 a0001c0005t0014 a0001c0008t0008 a0001c0009t0007	a0001c0001t0010g0211 a0001c0002t0005g0037 a0001c0002t0039g0229 others(5): Show a0001c0001t0010g0211 a0001c0002t0005g0037 a0001c0002t0039g0229 a0001c0004t0003g0018 a0001c0004t0004g0217 a0001c0005t0014g0228 a0001c0008t0008g0019 a0001c0009t0007g0202	8	258	0.0310	-18	c.24+ others(35): Show c.24+56010_24+56027delATTATTATTATTATTATT		CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6						chr16	TogoVar
CDYL_chr6_4771404_4960544	4852585	TTCCTTCC others(11): Show TTCCTTCCTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19043.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0227 a0001c0003t0004g0028 a0001c0003t0001g0227 a0001c0003t0004g0028	2	250	0.0080	-18	c.25- others(35): Show c.25-39119_25-39102delCCTTCCTTCCTCCTTCCT		CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0141 a0001c0009t0002g0141	1	250	0.0040	-18	c.691 others(35): Show c.691+8434_691+8451delATATATATATATATATAT		CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM16_chr19_44694151_44715718	44706269	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00673.hp1 others(98): Show HG00323.hp2 HG00423.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01975.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02257.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA18999.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19064.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0012	a0001c0001 a0001c0005 a0001c0008 others(3): Show a0001c0001 a0001c0005 a0001c0008 a0005c0009 a0008c0014 a0012c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0008t0001 a0005c0009t0001 a0008c0014t0001 a0012c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0002g0020 a0001c0001t0003g0001 a0001c0005t0001g0018 a0001c0005t0001g0059 a0001c0008t0001g0001 a0005c0009t0001g0001 a0005c0009t0001g0076 a0008c0014t0001g0001 a0012c0013t0001g0001	101	450	0.2244	-18	c.940 others(33): Show c.940+427_940+444delCACACACACACACACACA		CEACAM16	ENSG00000213892.12	transcript	ENST00000587331.7	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44510592	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02572.hp2 HG00544.hp1 HG02572.hp2	a0001 a0027 a0001 a0027	a0001c0001 a0027c0044 a0001c0001 a0027c0044	a0001c0001t0001 a0027c0044t0001 a0001c0001t0001 a0027c0044t0001	a0001c0001t0001g0189 a0027c0044t0001g0315 a0001c0001t0001g0189 a0027c0044t0001g0315	2	438	0.0046	-18	c.173 others(35): Show c.1737+420_1737+437delTTCTTTCTTTCTTTCTTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/11						chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44510605	AAAGAAAA others(11): Show AAAGAAAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01175.hp1 others(21): Show HG00558.hp1 HG00558.hp2 HG01175.hp1 HG01884.hp1 HG02258.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03516.hp1 HG04228.hp1 NA18961.hp2 NA18975.hp2 NA18977.hp2 NA19010.hp2 NA19057.hp2 NA19082.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0009 a0010 a0013 a0015 a0020 a0032	a0002c0002 a0003c0012 a0004c0003 others(6): Show a0002c0002 a0003c0012 a0004c0003 a0009c0007 a0010c0017 a0013c0019 a0015c0021 a0020c0025 a0032c0036	a0002c0002t0001 a0003c0012t0001 a0004c0003t0001 others(6): Show a0002c0002t0001 a0003c0012t0001 a0004c0003t0001 a0009c0007t0001 a0010c0017t0001 a0013c0019t0001 a0015c0021t0001 a0020c0025t0001 a0032c0036t0001	a0002c0002t0001g0219 a0002c0002t0001g0244 a0002c0002t0001g0256 others(20): Show a0002c0002t0001g0219 a0002c0002t0001g0244 a0002c0002t0001g0256 a0002c0002t0001g0265 a0002c0002t0001g0275 a0002c0002t0001g0279 a0003c0012t0001g0046 a0004c0003t0001g0021 a0004c0003t0001g0288 a0004c0003t0001g0292 a0004c0003t0001g0320 a0004c0003t0001g0322 a0004c0003t0001g0325 a0009c0007t0001g0066 a0010c0017t0001g0354 a0010c0017t0001g0355 a0010c0017t0001g0357 a0010c0017t0001g0393 a0013c0019t0001g0053 a0015c0021t0001g0073 a0015c0021t0001g0074 a0020c0025t0001g0286 a0032c0036t0001g0126	24	438	0.0548	-18	c.173 others(35): Show c.1737+407_1737+424delCCTTCCTTCCTTTTTCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/11						chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41626063	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG03017.hp1 others(5): Show HG01069.hp2 HG01071.hp2 HG03017.hp1 HG03540.hp1 HG04204.hp2 NA18990.hp2 NA19011.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0005c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0014 a0003c0004t0001 a0005c0009t0004	a0001c0001t0001g0035 a0001c0002t0001g0110 a0001c0002t0002g0111 others(4): Show a0001c0001t0001g0035 a0001c0002t0001g0110 a0001c0002t0002g0111 a0002c0003t0014g0256 a0003c0004t0001g0250 a0003c0004t0001g0251 a0005c0009t0004g0268	8	437	0.0183	-18	c.65- others(31): Show c.65-121_65-104delACACACACACACACACAC		CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding	1/6						chr19	TogoVar
CEACAM7_chr19_41668303_41693270	41678310	CATGTATA others(11): Show CATGTATATGTATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18948.hp1 NA18962.hp1 HG00642.hp2 NA18948.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0064 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0064	3	412	0.0073	-18	c.707 others(33): Show c.707-825_707-808delATACATATACATATACAT		CEACAM7	ENSG00000007306.15	transcript	ENST00000401731.6	protein_coding	3/4						chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37193579	GAAAAAGA others(11): Show GAAAAAGAAGAAGAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA19006.hp1 NA19010.hp1 others(1): Show NA18978.hp1 NA19006.hp1 NA19010.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	4	466	0.0086	-18	c.-29 others(29): Show c.-2942_-2925delAAAAAGAAGAAGAAGAAA		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding					2916		chr2	TogoVar

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