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
CMYA5_chr5_79684836_79805222	79742048	CTCTTCTT others(5): Show CTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02015.hp1 HG02080.hp2 others(9): Show HG00673.hp1 HG02015.hp1 HG02080.hp2 HG02145.hp1 HG02165.hp2 NA18964.hp1 NA18965.hp1 NA18977.hp2 NA18979.hp1 NA18994.hp1 NA19084.hp2 NA19240.hp2	a0001 a0008 a0015 others(1): Show a0001 a0008 a0015 a0018	a0001c0001 a0001c0013 a0001c0055 others(3): Show a0001c0001 a0001c0013 a0001c0055 a0008c0067 a0015c0032 a0018c0017	a0001c0001t0001 a0001c0001t0002 a0001c0013t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0002 a0001c0013t0006 a0001c0055t0001 a0008c0067t0001 a0015c0032t0007 a0018c0017t0001 a0018c0017t0002	a0001c0001t0001g0013 a0001c0001t0001g0150 a0001c0001t0002g0332 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0150 a0001c0001t0002g0332 a0001c0013t0002g0041 a0001c0013t0006g0140 a0001c0055t0001g0116 a0008c0067t0001g0305 a0015c0032t0007g0027 a0018c0017t0001g0067 a0018c0017t0002g0002 a0018c0017t0002g0068 a0018c0017t0002g0069	12	358	0.0335	-12	c.106 others(33): Show c.10639-1738_10639-1727delCTTCTTCTTCTT		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	86874986	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00609.hp2 others(36): Show HG00099.hp1 HG00140.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG01070.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01515.hp2 HG01981.hp1 HG02015.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02970.hp1 HG03209.hp2 HG03516.hp1 HG03688.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18952.hp2 NA18980.hp1 NA18988.hp2 NA19002.hp1 NA19062.hp1 NA19062.hp2 NA19081.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0006c0009 a0007c0010	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0006c0009t0001 a0007c0010t0002	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0046 others(36): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0006t0001g0040 a0002c0002t0001g0080 a0006c0009t0001g0089 a0007c0010t0002g0072	39	152	0.2566	-12	c.88+ others(27): Show c.88+8427_88+8438delATATATATATAT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86894035	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0040 a0001c0006t0001g0040	1	152	0.0066	-12	c.158 others(29): Show c.158+6450_158+6461delTTTTTTTTTTTT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86925482	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01167.hp1 HG01169.hp1 others(5): Show HG00140.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG02451.hp2 HG02895.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0008c0011t0001 a0001c0001t0001 a0008c0011t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0008c0011t0001g0036	8	152	0.0526	-12	c.273 others(31): Show c.273-14081_273-14070delGTGTGTGTGTGT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86935009	GTTTGTTT others(5): Show GTTTGTTTGTTTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00609.hp1 others(58): Show HG00099.hp1 HG00140.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01515.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18952.hp2 NA18980.hp1 NA18988.hp2 NA19002.hp1 NA19062.hp1 NA19062.hp2 NA19081.hp2 NA20752.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0006c0009 a0007c0010 others(1): Show a0001c0001 a0006c0009 a0007c0010 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0006c0009t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0006c0009t0001 a0007c0010t0002 a0008c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0028 others(58): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0092 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0069 a0006c0009t0001g0089 a0007c0010t0002g0072 a0008c0011t0001g0036	61	152	0.4013	-12	c.273 others(29): Show c.273-4583_273-4572delGTTTGTTTATTT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86979417	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	152	0.0066	-12	c.431 others(31): Show c.431+39664_431+39675delAAAAAAAAAAAG		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10						chr8	TogoVar
CNBD1_chr8_86861415_87387859	87037868	CATTCAAA others(5): Show CATTCAAAATTGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	152	0.0066	-12	c.431 others(31): Show c.431+98115_431+98126delATTCAAAATTGT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10						chr8	TogoVar
CNBD1_chr8_86861415_87387859	87055883	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01257.hp1 others(21): Show HG00639.hp1 HG01167.hp2 HG01257.hp1 HG02040.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0006 a0002c0002 others(5): Show a0001c0001 a0001c0006 a0002c0002 a0002c0005 a0003c0004 a0004c0003 a0005c0007 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0002c0002t0001 a0002c0005t0001 a0003c0004t0001 a0004c0003t0001 a0005c0007t0002 a0008c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0033 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0143 a0001c0001t0004g0116 a0001c0006t0001g0040 a0002c0002t0001g0093 a0002c0002t0001g0150 a0002c0005t0001g0082 a0002c0005t0001g0084 a0002c0005t0001g0086 a0003c0004t0001g0068 a0003c0004t0001g0149 a0004c0003t0001g0009 a0005c0007t0002g0144 a0008c0011t0001g0036	24	152	0.1579	-12	c.431 others(33): Show c.431+116182_431+116193delTTCCTTCCTTCC		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87240065	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0144 a0005c0007t0002g0144	1	152	0.0066	-12	c.771 others(29): Show c.771+2981_771+2992delCACACACACACA		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87255972	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03516.hp1 HG00741.hp2 HG03516.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0002 a0001c0001t0001 a0007c0010t0002	a0001c0001t0001g0108 a0007c0010t0002g0072 a0001c0001t0001g0108 a0007c0010t0002g0072	2	152	0.0132	-12	c.771 others(31): Show c.771+18893_771+18904delATATATATATAT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87281541	GATATATA others(5): Show GATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03471.hp1 HG03486.hp1 others(7): Show HG00140.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG06807.hp2 NA18939.hp2 NA18980.hp1 NA18988.hp1 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0023 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0002g0003	10	152	0.0658	-12	c.772 others(29): Show c.772-3087_772-3076delTATATATATATA		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD2_chr20_35963590_36035700	35994577	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0066 a0001c0004t0002g0066	1	268	0.0037	-12	c.856 others(27): Show c.856-448_856-437delAAAAAAAAAAAG		CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
CNBD2_chr20_35963590_36035700	36033507	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18982.hp2 HG00558.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0210 a0002c0002t0001g0211	2	268	0.0075	-12	c.28 others(23): Show c.2860_*2871delTTTTTTTTTTTT		CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding					2808		chr20	TogoVar
CNBP_chr3_129162827_129188896	129164210	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG02015.hp2 others(21): Show HG00408.hp1 HG00544.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02165.hp2 HG02683.hp1 HG02738.hp2 HG03098.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18950.hp1 NA18955.hp2 NA18961.hp1 NA18966.hp2 NA18972.hp1 NA19055.hp2 NA19074.hp1 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0013 a0001c0002t0018 others(3): Show a0001c0002t0005 a0001c0002t0013 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0038	a0001c0002t0005g0290 a0001c0002t0005g0337 a0001c0002t0005g0338 others(21): Show a0001c0002t0005g0290 a0001c0002t0005g0337 a0001c0002t0005g0338 a0001c0002t0005g0339 a0001c0002t0005g0340 a0001c0002t0005g0341 a0001c0002t0005g0342 a0001c0002t0005g0343 a0001c0002t0005g0344 a0001c0002t0005g0345 a0001c0002t0005g0346 a0001c0002t0005g0349 a0001c0002t0005g0350 a0001c0002t0005g0352 a0001c0002t0005g0353 a0001c0002t0005g0356 a0001c0002t0005g0357 a0001c0002t0005g0358 a0001c0002t0013g0336 a0001c0002t0013g0354 a0001c0002t0018g0320 a0001c0002t0019g0333 a0001c0002t0020g0347 a0001c0002t0038g0366	24	430	0.0558	-12	c.62 others(23): Show c.6231_*6242delTTTTTTTTTTTT		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding					3616		chr3	TogoVar
CNBP_chr3_129162827_129188896	129172596	GCAGGCAG others(5): Show GCAGGCAGGCAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp1 HG01109.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0234 a0001c0001t0003g0237	2	430	0.0047	-12	c.-14 others(27): Show c.-14-837_-14-826delTCTGCCTGCCTG		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNBP_chr3_129162827_129188896	129172612	GCAGACAG others(5): Show GCAGACAGGCAGC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01255.hp1 others(58): Show HG00609.hp2 HG00738.hp1 HG01255.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02293.hp2 HG02523.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG06807.hp1 NA18612.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18973.hp2 NA18983.hp1 NA18989.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19068.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0025 a0001c0001t0030 a0001c0001t0039 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 a0001c0002t0023 a0001c0002t0037	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0018 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0123 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0332 a0001c0001t0001g0367 a0001c0001t0002g0073 a0001c0001t0003g0033 a0001c0001t0003g0266 a0001c0001t0004g0273 a0001c0001t0004g0285 a0001c0001t0004g0289 a0001c0001t0004g0319 a0001c0001t0010g0267 a0001c0001t0025g0297 a0001c0001t0030g0284 a0001c0001t0039g0296 a0001c0002t0001g0192 a0001c0002t0001g0197 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0003g0202 a0001c0002t0004g0217 a0001c0002t0017g0378 a0001c0002t0023g0373 a0001c0002t0037g0198	61	430	0.1419	-12	c.-14 others(27): Show c.-14-853_-14-842delGCTGCCTGTCTG		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNBP_chr3_129162827_129188896	129172616	ACAGGCAG others(5): Show ACAGGCAGCCAGG	A A	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18982.hp2 NA19085.hp1 NA18943.hp1 NA18982.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0031 a0001c0001t0006 a0001c0001t0031	a0001c0001t0006g0046 a0001c0001t0006g0132 a0001c0001t0031g0035 a0001c0001t0006g0046 a0001c0001t0006g0132 a0001c0001t0031g0035	3	430	0.0070	-12	c.-14 others(27): Show c.-14-857_-14-846delCCTGGCTGCCTG		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNBP_chr3_129162827_129188896	129172624	CCAGGCAG others(5): Show CCAGGCAGGCAGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG04228.hp2 NA18942.hp2 others(1): Show HG01243.hp1 HG04228.hp2 NA18942.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0001g0164 a0001c0001t0003g0109 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0164 a0001c0001t0003g0109 a0001c0001t0003g0235	4	430	0.0093	-12	c.-14 others(27): Show c.-14-865_-14-854delCCTGCCTGCCTG		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNBP_chr3_129162827_129188896	129172648	GCAGGCAG others(5): Show GCAGGCAGGCAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG03225.hp1 others(1): Show HG00738.hp2 HG01109.hp1 HG03225.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0003g0234 a0001c0001t0003g0237 others(1): Show a0001c0001t0001g0010 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0002t0001g0021	4	430	0.0093	-12	c.-14 others(27): Show c.-14-889_-14-878delTCTGCCTGCCTG		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNBP_chr3_129162827_129188896	129172656	GCAGACAG others(5): Show GCAGACAGACAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0230 a0001c0002t0011g0230	1	430	0.0023	-12	c.-14 others(27): Show c.-14-897_-14-886delTCTGTCTGTCTG		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNBP_chr3_129162827_129188896	129172687	GACAGACA others(5): Show GACAGACAGACAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0376 a0001c0002t0040g0376	1	430	0.0023	-12	c.-14 others(27): Show c.-14-928_-14-917delGTGTCTGTCTGT		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNDP1_chr18_74529500_74592212	74530324	CCTGCCCC others(5): Show CCTGCCCCAGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0183 a0002c0003t0002g0183	1	390	0.0026	-12	c.-43 others(23): Show c.-4343_-4332delCTGCCCCAGCAT		CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding					4175		chr18	TogoVar
CNDP1_chr18_74529500_74592212	74551361	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19062.hp2 NA18946.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0213 a0002c0004t0001g0214 a0001c0001t0001g0213 a0002c0004t0001g0214	2	390	0.0051	-12	c.25- others(27): Show c.25-4955_25-4944delCACACACACACA		CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNDP1_chr18_74529500_74592212	74579138	GCCTCTCT others(5): Show GCCTCTCTCCTGC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02572.hp1 HG03195.hp1 others(1): Show HG01257.hp1 HG02572.hp1 HG03195.hp1 NA18948.hp1	a0002 a0016 a0023 a0002 a0016 a0023	a0002c0003 a0016c0044 a0016c0050 others(1): Show a0002c0003 a0016c0044 a0016c0050 a0023c0039	a0002c0003t0001 a0016c0044t0011 a0016c0050t0011 others(1): Show a0002c0003t0001 a0016c0044t0011 a0016c0050t0011 a0023c0039t0011	a0002c0003t0001g0136 a0016c0044t0011g0356 a0016c0050t0011g0006 others(1): Show a0002c0003t0001g0136 a0016c0044t0011g0356 a0016c0050t0011g0006 a0023c0039t0011g0107	4	390	0.0103	-12	c.116 others(29): Show c.1167+822_1167+833delGCCCTCTCTCCT		CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNDP1_chr18_74529500_74592212	74579176	CCCTTCTC others(5): Show CCCTTCTCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0381 a0001c0001t0002g0381	1	390	0.0026	-12	c.116 others(29): Show c.1167+855_1167+866delTCCCTTTCCTTC		CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNDP2_chr18_74491363_74528454	74495308	CTAAATAA others(5): Show CTAAATAAATAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0184 a0010c0014t0001g0184	1	424	0.0024	-12	c.-12 others(23): Show c.-1215_-1204delTAAATAAATAAA		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding					1054		chr18	TogoVar
CNDP2_chr18_74491363_74528454	74510246	TTAGGCCC others(5): Show TTAGGCCCTGATG	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0184 a0010c0014t0001g0184	1	424	0.0024	-12	c.457 others(27): Show c.457-565_457-554delAGGCCCTGATGT		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNGA1_chr4_47930977_48021681	47952368	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01891.hp2 HG02145.hp1 others(9): Show HG00642.hp2 HG01891.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp1 HG02723.hp2 HG03098.hp2 HG03225.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003	a0001c0003t0001g0338 a0001c0003t0002g0120 a0001c0003t0002g0121 others(9): Show a0001c0003t0001g0338 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0003g0020 a0001c0003t0003g0078 a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092	12	366	0.0328	-12	c.107 others(27): Show c.107+203_107+214delATTTATTTATTT		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	4/10						chr4	TogoVar
CNGA1_chr4_47930977_48021681	47974067	TCTAGATA others(5): Show TCTAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp2 NA18906.hp1 others(3): Show HG02280.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp1 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0099 a0002c0002t0002g0097 a0002c0002t0002g0126 others(3): Show a0001c0001t0002g0099 a0002c0002t0002g0097 a0002c0002t0002g0126 a0002c0002t0002g0138 a0002c0002t0002g0173 a0002c0002t0002g0174	6	366	0.0164	-12	c.-15 others(29): Show c.-15+7314_-15+7325delCTATCTATCTAG		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10						chr4	TogoVar
CNGA1_chr4_47930977_48021681	47974068	CTAGATAG others(5): Show CTAGATAGATAGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01257.hp1 others(19): Show HG00280.hp2 HG01070.hp2 HG01257.hp1 HG01346.hp1 HG01952.hp2 HG01981.hp2 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG03239.hp1 HG03579.hp1 HG03710.hp2 HG03834.hp2 NA18942.hp1 NA18969.hp1 NA18975.hp1 NA18985.hp2 NA19056.hp2 NA19064.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0224 others(19): Show a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0345 a0001c0001t0003g0067 a0001c0001t0006g0248	22	366	0.0601	-12	c.-15 others(29): Show c.-15+7313_-15+7324delTCTATCTATCTA		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10						chr4	TogoVar
CNGA1_chr4_47930977_48021681	47983615	TAAAAGAA others(5): Show TAAAAGAAAAAGA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18612.hp1 HG02080.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0280 a0001c0001t0001g0281	2	366	0.0055	-12	c.-12 others(31): Show c.-122-2127_-122-2116delTCTTTTTCTTTT		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	2/10						chr4	TogoVar
CNGA1_chr4_47930977_48021681	48012558	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01517.hp2 HG03491.hp2 HG01261.hp1 HG01517.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0232 a0001c0001t0001g0253 a0001c0004t0001g0233 a0001c0001t0001g0232 a0001c0001t0001g0253 a0001c0004t0001g0233	3	366	0.0082	-12	c.-22 others(31): Show c.-222-1677_-222-1666delAAAAAAAAAAAA		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	1/10						chr4	TogoVar
CNGA2_chrX_151729746_151750564	151742942	GTATATGT others(5): Show GTATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG01358.hp1 others(4): Show HG00738.hp1 HG01106.hp1 HG01358.hp1 NA18957.hp2 NA19062.hp1 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0009g0019 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0009g0019 a0001c0001t0009g0061 a0001c0001t0009g0062	7	336	0.0208	-12	c.590 others(27): Show c.590-122_590-111delTGTATATATATA		CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151749311	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02818.hp2 HG02055.hp1 HG02818.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0033 a0003c0003t0002g0033	2	336	0.0060	-12	c.48 others(23): Show c.4814_*4825delGTGTGTGTGTGT		CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding					3748		chrX	TogoVar
CNGA3_chr2_98341456_98403601	98399950	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	338	0.0030	-12	c.26 others(23): Show c.2696_*2707delGTGTGTGTGTGT		CNGA3	ENSG00000144191.12	transcript	ENST00000272602.7	protein_coding					1350		chr2	TogoVar
CNGA4_chr11_6234089_6249479	6244585	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03471.hp1 NA19043.hp1 HG02622.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	3	412	0.0073	-12	c.17 others(21): Show c.177_*188delACACACACACAC		CNGA4	ENSG00000132259.13	transcript	ENST00000379936.3	protein_coding					107		chr11	TogoVar
CNGB1_chr16_57877340_57976128	57885576	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02615.hp2 others(7): Show HG02280.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02896.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp1 HG06807.hp2 NA20300.hp2	a0001 a0004 a0006 others(7): Show a0001 a0004 a0006 a0017 a0018 a0022 a0026 a0028 a0033 a0047	a0001c0028 a0004c0049 a0006c0083 others(7): Show a0001c0028 a0004c0049 a0006c0083 a0017c0060 a0018c0102 a0022c0050 a0026c0080 a0028c0084 a0033c0065 a0047c0111	a0001c0028t0044 a0004c0049t0015 a0006c0083t0043 others(7): Show a0001c0028t0044 a0004c0049t0015 a0006c0083t0043 a0017c0060t0015 a0018c0102t0003 a0022c0050t0003 a0026c0080t0015 a0028c0084t0003 a0033c0065t0015 a0047c0111t0003	a0001c0028t0044g0064 a0004c0049t0015g0344 a0006c0083t0043g0063 others(7): Show a0001c0028t0044g0064 a0004c0049t0015g0344 a0006c0083t0043g0063 a0017c0060t0015g0005 a0018c0102t0003g0271 a0022c0050t0003g0352 a0026c0080t0015g0188 a0028c0084t0003g0330 a0033c0065t0015g0043 a0047c0111t0003g0327	10	360	0.0278	-12	c.346 others(31): Show c.3463-1131_3463-1120delAAGAAAGAAAGA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32						chr16	TogoVar
CNGB1_chr16_57877340_57976128	57886707	TCCTAAAG others(5): Show TCCTAAAGGACAG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01168.hp2 HG01169.hp1 others(25): Show HG01070.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp2 HG01433.hp2 HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0006 a0009 a0011 a0012 a0015 a0019 a0020 a0049	a0001c0007 a0001c0013 a0001c0016 others(18): Show a0001c0007 a0001c0013 a0001c0016 a0001c0019 a0001c0028 a0001c0053 a0002c0005 a0002c0011 a0002c0109 a0004c0044 a0004c0048 a0006c0085 a0009c0026 a0009c0061 a0009c0077 a0011c0058 a0012c0115 a0015c0031 a0019c0112 a0020c0116 a0049c0108	a0001c0007t0004 a0001c0013t0004 a0001c0013t0019 others(21): Show a0001c0007t0004 a0001c0013t0004 a0001c0013t0019 a0001c0016t0004 a0001c0016t0046 a0001c0019t0019 a0001c0028t0042 a0001c0053t0004 a0002c0005t0041 a0002c0011t0004 a0002c0011t0016 a0002c0109t0004 a0004c0044t0004 a0004c0048t0016 a0006c0085t0024 a0009c0026t0004 a0009c0061t0004 a0009c0077t0004 a0011c0058t0004 a0012c0115t0045 a0015c0031t0004 a0019c0112t0024 a0020c0116t0004 a0049c0108t0004	a0001c0007t0004g0046 a0001c0013t0004g0308 a0001c0013t0019g0213 others(25): Show a0001c0007t0004g0046 a0001c0013t0004g0308 a0001c0013t0019g0213 a0001c0016t0004g0313 a0001c0016t0046g0054 a0001c0019t0019g0286 a0001c0019t0019g0299 a0001c0028t0042g0069 a0001c0053t0004g0200 a0002c0005t0041g0068 a0002c0011t0004g0066 a0002c0011t0004g0185 a0002c0011t0016g0190 a0002c0109t0004g0108 a0004c0044t0004g0343 a0004c0048t0016g0354 a0006c0085t0024g0209 a0009c0026t0004g0059 a0009c0026t0004g0310 a0009c0061t0004g0049 a0009c0077t0004g0060 a0011c0058t0004g0140 a0012c0115t0045g0111 a0015c0031t0004g0333 a0015c0031t0004g0334 a0019c0112t0024g0010 a0020c0116t0004g0070 a0049c0108t0004g0061	28	360	0.0778	-12	c.346 others(31): Show c.3462+1136_3462+1147delCTGTCCTTTAGG		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32						chr16	TogoVar
CNGB1_chr16_57877340_57976128	57896713	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02723.hp1 HG03453.hp2 others(2): Show HG00438.hp1 HG02723.hp1 HG03453.hp2 NA18906.hp2 NA18957.hp2	a0001 a0024 a0040 a0001 a0024 a0040	a0001c0003 a0001c0007 a0001c0097 others(2): Show a0001c0003 a0001c0007 a0001c0097 a0024c0047 a0040c0063	a0001c0003t0001 a0001c0007t0003 a0001c0097t0003 others(2): Show a0001c0003t0001 a0001c0007t0003 a0001c0097t0003 a0024c0047t0034 a0040c0063t0020	a0001c0003t0001g0278 a0001c0007t0003g0189 a0001c0097t0003g0231 others(2): Show a0001c0003t0001g0278 a0001c0007t0003g0189 a0001c0097t0003g0231 a0024c0047t0034g0350 a0040c0063t0020g0009	5	360	0.0139	-12	c.324 others(29): Show c.3242+672_3242+683delATTTATTTATTT		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	31/32						chr16	TogoVar
CNGB1_chr16_57877340_57976128	57918038	CATGGATG others(5): Show CATGGATGGATGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0096 a0001c0096	a0001c0096t0002 a0001c0096t0002	a0001c0096t0002g0293 a0001c0096t0002g0293	1	360	0.0028	-12	c.195 others(29): Show c.1958-574_1958-563delCCATCCATCCAT		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	20/32						chr16	TogoVar
CNGB1_chr16_57877340_57976128	57918108	GTTATTTA others(5): Show GTTATTTATTTAT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0085 a0006c0085	a0006c0085t0024 a0006c0085t0024	a0006c0085t0024g0209 a0006c0085t0024g0209	1	360	0.0028	-12	c.195 others(29): Show c.1958-644_1958-633delATAAATAAATAA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	20/32						chr16	TogoVar
CNGB1_chr16_57877340_57976128	57920517	GGCCGTGG others(5): Show GGCCGTGGAGGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03239.hp1 HG03239.hp1	a0042 a0042	a0042c0057 a0042c0057	a0042c0057t0002 a0042c0057t0002	a0042c0057t0002g0147 a0042c0057t0002g0147	1	360	0.0028	-12	c.165 others(21): Show c.1659_1670delGGCCTCCACGGC	p.Ala others(13): Show p.Ala554_Ala557del	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	19/33	1747/5657	1659/3756	553/1251			chr16	TogoVar
CNGB1_chr16_57877340_57976128	57961631	GGAATGAA others(5): Show GGAATGAATGAAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02055.hp1 HG02280.hp2	a0002 a0006 a0002 a0006	a0002c0011 a0006c0086 a0002c0011 a0006c0086	a0002c0011t0004 a0006c0086t0003 a0002c0011t0004 a0006c0086t0003	a0002c0011t0004g0185 a0006c0086t0003g0067 a0002c0011t0004g0185 a0006c0086t0003g0067	2	360	0.0056	-12	c.459 others(27): Show c.459-728_459-717delATTCATTCATTC		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	7/32						chr16	TogoVar
CNGB3_chr8_86569179_86748634	86635853	TATATATA others(5): Show TATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	288	0.0035	-12	c.117 others(31): Show c.1179-2972_1179-2961delGTATATATATAT		CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	10/17						chr8	TogoVar
CNGB3_chr8_86569179_86748634	86689544	TTTTTTAT others(5): Show TTTTTTATTTTTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG02717.hp1 others(10): Show HG01884.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 NA19030.hp2 NA21309.hp1	a0002 a0006 a0009 a0002 a0006 a0009	a0002c0002 a0006c0006 a0009c0009 a0002c0002 a0006c0006 a0009c0009	a0002c0002t0001 a0002c0002t0006 a0006c0006t0001 others(1): Show a0002c0002t0001 a0002c0002t0006 a0006c0006t0001 a0009c0009t0002	a0002c0002t0001g0178 a0002c0002t0001g0188 a0002c0002t0006g0177 others(10): Show a0002c0002t0001g0178 a0002c0002t0001g0188 a0002c0002t0006g0177 a0002c0002t0006g0179 a0002c0002t0006g0180 a0002c0002t0006g0181 a0002c0002t0006g0182 a0006c0006t0001g0101 a0006c0006t0001g0169 a0006c0006t0001g0170 a0006c0006t0001g0210 a0009c0009t0002g0100 a0009c0009t0002g0102	13	288	0.0451	-12	c.339 others(31): Show c.339-18458_339-18447delTAAAAATAAAAA		CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17						chr8	TogoVar
CNGB3_chr8_86569179_86748634	86720833	TATGTATA others(5): Show TATGTATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01358.hp2 HG02055.hp1 others(20): Show HG01069.hp2 HG01358.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02280.hp1 HG02559.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02886.hp2 HG03130.hp2 HG03453.hp2 HG03579.hp1 HG03834.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18968.hp1 NA19005.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0021 others(2): Show a0001c0001 a0002c0002 a0002c0021 a0003c0011 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0002t0010 a0002c0021t0005 a0003c0011t0002 a0006c0006t0001	a0001c0001t0001g0042 a0001c0001t0001g0183 a0001c0001t0001g0222 others(20): Show a0001c0001t0001g0042 a0001c0001t0001g0183 a0001c0001t0001g0222 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0270 a0001c0001t0003g0214 a0001c0001t0003g0219 a0001c0001t0005g0184 a0001c0001t0005g0186 a0002c0002t0001g0156 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0010g0099 a0002c0021t0005g0080 a0003c0011t0002g0187 a0006c0006t0001g0101	23	288	0.0799	-12	c.338 others(29): Show c.338+5686_338+5697delGTGTGTATACAT		CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17						chr8	TogoVar
CNGB3_chr8_86569179_86748634	86720839	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG03098.hp1 HG00733.hp1 HG01175.hp1 HG03098.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0003 a0010c0010t0002 a0001c0001t0003 a0010c0010t0002	a0001c0001t0003g0171 a0010c0010t0002g0154 a0010c0010t0002g0155 a0001c0001t0003g0171 a0010c0010t0002g0154 a0010c0010t0002g0155	3	288	0.0104	-12	c.338 others(29): Show c.338+5680_338+5691delGTGTGTGTGTGT		CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17						chr8	TogoVar
CNIH3_chr1_224611317_224745554	224614936	CAAATAAA others(5): Show CAAATAAATAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18985.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(135): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0003g0042 a0001c0001t0003g0073 a0001c0001t0003g0270 a0001c0001t0003g0295 a0001c0001t0003g0299 a0001c0001t0003g0313 a0001c0001t0003g0322 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0333 a0001c0001t0003g0337 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0010g0005 a0001c0001t0010g0099 a0001c0001t0021g0254 a0001c0001t0023g0304 a0001c0001t0024g0247 a0001c0001t0028g0262 a0001c0002t0001g0053 a0001c0002t0001g0344	142	358	0.3967	-12	c.-22 others(23): Show c.-2238_-2227delAAATAAATAAAT		CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding					1380		chr1	TogoVar
CNIH3_chr1_224611317_224745554	224674272	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	358	0.0028	-12	c.82- others(27): Show c.82-6662_82-6651delTTTTTTTTTTTT		CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNIH3_chr1_224611317_224745554	224695357	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp2 HG01071.hp1 others(34): Show HG00609.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02165.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03834.hp2 HG04228.hp1 NA18951.hp2 NA18959.hp1 NA18962.hp2 NA18968.hp1 NA18972.hp2 NA18982.hp2 NA19002.hp1 NA19004.hp2 NA19070.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 a0001c0001t0028	a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0240 others(31): Show a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0263 a0001c0001t0001g0286 a0001c0001t0001g0334 a0001c0001t0002g0001 a0001c0001t0002g0169 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0015g0010 a0001c0001t0015g0011 a0001c0001t0016g0199 a0001c0001t0028g0262	37	358	0.1034	-12	c.198 others(31): Show c.198+10541_198+10552delACACACACACAC		CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr1	TogoVar

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