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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	status	chr	external
CDK18_chr1_205499669_205537790	205526843	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	388	0.0026	0	c.729 others(5): Show c.729+6G>C		CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding	8/15					chr1	TogoVar
CDK1_chr10_60773478_60799852	60792057	GC GC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(100): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02074.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03490.hp1 HG03516.hp2 HG03669.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18946.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18991.hp2 NA18995.hp1 NA18997.hp2 NA19002.hp2 NA19005.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0008 others(22): Show a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0003g0040 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0072 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0104 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0115 a0001c0001t0008g0008	103	458	0.2249	-1	c.653 others(6): Show c.653+5delC		CDK1	ENSG00000170312.17	transcript	ENST00000395284.8	protein_coding	6/7					chr10	TogoVar
CDK1_chr10_60773478_60799852	60793872	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	458	0.0022	0	c.796 others(5): Show c.796-5C>T		CDK1	ENSG00000170312.17	transcript	ENST00000395284.8	protein_coding	7/7					chr10	TogoVar
CDK20_chr9_87961441_87979533	87969195	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp1 HG02965.hp1 HG02109.hp1 HG02965.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0022 a0002c0005t0001g0022	2	440	0.0046	0	c.842 others(3): Show c.842A>G	p.Lys others(6): Show p.Lys281Arg	CDK20	ENSG00000156345.18	transcript	ENST00000325303.9	protein_coding	7/8	929/2149	842/1041	281/346		chr9	TogoVar
CDK20_chr9_87961441_87979533	87970768	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	440	0.0023	0	c.500 others(5): Show c.500+8G>A		CDK20	ENSG00000156345.18	transcript	ENST00000325303.9	protein_coding	4/7					chr9	TogoVar
CDK2AP1_chr12_123255976_123276856	123261810	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(213): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0003g0017 a0001c0001t0003g0024 a0001c0001t0003g0040 a0001c0001t0004g0012 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0007g0131 a0001c0001t0008g0133 a0001c0004t0001g0130 a0001c0005t0001g0058	216	328	0.6585	0	c.281 others(5): Show c.281-7G>C		CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding	3/3					chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123265188	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp2 HG02683.hp1 HG02922.hp1 others(1): Show HG01175.hp2 HG02683.hp1 HG02922.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0079 a0001c0001t0005g0042 a0001c0001t0005g0043 others(1): Show a0001c0001t0001g0079 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044	4	328	0.0122	0	c.280 others(5): Show c.280+8C>T		CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding	3/3					chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123267179	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00609.hp2 HG00621.hp1 others(69): Show HG00280.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG01069.hp1 HG01070.hp2 HG01175.hp2 HG01243.hp1 HG01943.hp1 HG01952.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02293.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG02976.hp2 HG03239.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18974.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19064.hp1 NA19067.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19090.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0003g0017 a0001c0001t0003g0024 a0001c0001t0003g0040 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0007g0131 a0001c0001t0008g0133 a0001c0004t0001g0130	72	328	0.2195	0	c.153 others(5): Show c.153+6T>G		CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding	2/3					chr12	TogoVar
CDK2AP2_chr11_67501497_67513162	67507592	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	2	316	0.0063	0	c.180 others(3): Show c.180G>A	p.Gln others(5): Show p.Gln60Gln	CDK2AP2	ENSG00000167797.8	transcript	ENST00000301488.8	protein_coding	2/4	260/909	180/381	60/126		chr11	TogoVar
CDK3_chr17_75995855_76010998	76001959	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	390	0.0026	0	c.194 others(5): Show c.194+8G>A		CDK3	ENSG00000250506.9	transcript	ENST00000448471.3	protein_coding	3/7					chr17	TogoVar
CDK5RAP1_chr20_33353839_33406519	33367013	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01346.hp1 HG02109.hp2 others(5): Show HG01168.hp1 HG01346.hp1 HG02109.hp2 HG02922.hp2 NA18951.hp2 NA18986.hp1 NA19058.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0145 a0001c0001t0001g0159 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0190 a0001c0002t0001g0062 a0001c0002t0001g0289	8	358	0.0224	-1	c.139 others(7): Show c.1393-6delT		CDK5RAP1	ENSG00000101391.21	transcript	ENST00000346416.7	protein_coding	11/13					chr20	TogoVar
CDK5RAP2_chr9_120383875_120585167	120394512	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02132.hp2 NA18950.hp2 NA18969.hp2 others(4): Show HG02132.hp2 NA18950.hp2 NA18969.hp2 NA18975.hp1 NA18985.hp1 NA19070.hp1 NA19078.hp2	a0001 a0003 a0001 a0003	a0001c0019 a0003c0007 a0001c0019 a0003c0007	a0001c0019t0001 a0003c0007t0001 a0001c0019t0001 a0003c0007t0001	a0001c0019t0001g0105 a0003c0007t0001g0080 a0003c0007t0001g0088 others(4): Show a0001c0019t0001g0105 a0003c0007t0001g0080 a0003c0007t0001g0088 a0003c0007t0001g0116 a0003c0007t0001g0119 a0003c0007t0001g0144 a0003c0007t0001g0173	7	232	0.0302	0	c.557 others(4): Show c.5578T>C	p.Leu others(7): Show p.Leu1860Leu	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	36/38	5767/6232	5578/5682	1860/1893		chr9	TogoVar
CDK5RAP2_chr9_120383875_120585167	120394636	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02486.hp1 HG02809.hp2 HG03139.hp1 others(1): Show HG02486.hp1 HG02809.hp2 HG03139.hp1 HG03471.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0058 a0008c0008t0001g0059 a0008c0008t0001g0061 others(1): Show a0008c0008t0001g0058 a0008c0008t0001g0059 a0008c0008t0001g0061 a0008c0008t0001g0062	4	232	0.0172	0	c.545 others(4): Show c.5454T>G	p.Ile others(7): Show p.Ile1818Met	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	36/38	5643/6232	5454/5682	1818/1893		chr9	TogoVar
CDK5RAP2_chr9_120383875_120585167	120518648	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0001 a0005c0031t0001	a0005c0031t0001g0223 a0005c0031t0001g0223	1	232	0.0043	0	c.109 others(6): Show c.1093-3T>C		CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	11/37					chr9	TogoVar
CDK5RAP2_chr9_120383875_120585167	120527932	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG02451.hp2 HG02922.hp1 others(2): Show HG01243.hp2 HG02451.hp2 HG02922.hp1 HG03209.hp2 NA21309.hp1	a0005 a0006 a0012 others(1): Show a0005 a0006 a0012 a0017	a0005c0031 a0006c0006 a0012c0027 others(1): Show a0005c0031 a0006c0006 a0012c0027 a0017c0029	a0005c0031t0001 a0006c0006t0001 a0012c0027t0001 others(1): Show a0005c0031t0001 a0006c0006t0001 a0012c0027t0001 a0017c0029t0002	a0005c0031t0001g0223 a0006c0006t0001g0206 a0006c0006t0001g0207 others(2): Show a0005c0031t0001g0223 a0006c0006t0001g0206 a0006c0006t0001g0207 a0012c0027t0001g0213 a0017c0029t0002g0228	5	232	0.0216	0	c.880 others(5): Show c.880-7A>G		CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	9/37					chr9	TogoVar
CDK5RAP2_chr9_120383875_120585167	120545794	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 NA18906.hp1 NA20129.hp1 HG02280.hp2 NA18906.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0172 a0003c0003t0001g0127 a0003c0003t0001g0171 a0001c0001t0001g0172 a0003c0003t0001g0127 a0003c0003t0001g0171	3	232	0.0129	0	c.307 others(5): Show c.307-4G>A		CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	4/37					chr9	TogoVar
CDK5RAP3_chr17_47966113_47986781	47975660	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0062 a0005c0008t0001g0063 a0005c0008t0001g0062 a0005c0008t0001g0063	2	394	0.0051	0	c.653 others(5): Show c.653+7A>C		CDK5RAP3	ENSG00000108465.15	transcript	ENST00000338399.9	protein_coding	7/13					chr17	TogoVar
CDK5RAP3_chr17_47966113_47986781	47976704	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	394	0.0025	0	c.799 others(5): Show c.799-8C>G		CDK5RAP3	ENSG00000108465.15	transcript	ENST00000338399.9	protein_coding	8/13					chr17	TogoVar
CDK5_chr7_151048815_151062897	151054397	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	416	0.0024	0	c.711 others(5): Show c.711+8G>T		CDK5	ENSG00000164885.13	transcript	ENST00000485972.6	protein_coding	10/11					chr7	TogoVar
CDK5_chr7_151048815_151062897	151055095	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	416	0.0024	0	c.582 others(3): Show c.582G>A	p.Glu others(6): Show p.Glu194Glu	CDK5	ENSG00000164885.13	transcript	ENST00000485972.6	protein_coding	9/12	631/1122	582/879	194/292		chr7	TogoVar
CDK6_chr7_92599921_92841573	92833688	C C	G G	splice_region_variant splice_region_variant	LOW	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0020 a0001c0001t0013g0020	1	124	0.0081	0	c.-36 others(4): Show c.-365G>C		CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/8					chr7	TogoVar
CDK7_chr5_69229886_69282430	69262199	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	375	0.0027	0	c.528 others(5): Show c.528-6C>A		CDK7	ENSG00000134058.12	transcript	ENST00000256443.8	protein_coding	7/11					chr5	TogoVar
CDK9_chr9_127781034_127795792	127787511	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00544.hp1 HG02135.hp1 others(14): Show HG00438.hp2 HG00544.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 NA18939.hp1 NA18947.hp1 NA18950.hp1 NA18957.hp1 NA18964.hp1 NA18971.hp1 NA18977.hp1 NA18988.hp2 NA18995.hp1 NA19064.hp2 NA19070.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0027 others(2): Show a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0027 a0001c0001t0005g0035 a0001c0001t0020g0008	17	412	0.0413	0	c.175 others(5): Show c.175-7C>T		CDK9	ENSG00000136807.14	transcript	ENST00000373264.5	protein_coding	2/6					chr9	TogoVar
CDK9_chr9_127781034_127795792	127787515	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18946.hp2 NA18955.hp2 NA19066.hp1 others(1): Show NA18946.hp2 NA18955.hp2 NA19066.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	4	412	0.0097	0	c.175 others(5): Show c.175-3C>T		CDK9	ENSG00000136807.14	transcript	ENST00000373264.5	protein_coding	2/6					chr9	TogoVar
CDK9_chr9_127781034_127795792	127788208	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01099.hp2 HG02451.hp2 others(13): Show HG01069.hp2 HG01099.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03453.hp2 HG03486.hp2 NA19030.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0006 a0001c0001t0004g0024 a0001c0001t0009g0012 a0001c0001t0004g0006 a0001c0001t0004g0024 a0001c0001t0009g0012	16	412	0.0388	0	c.433 others(5): Show c.433-6C>T		CDK9	ENSG00000136807.14	transcript	ENST00000373264.5	protein_coding	4/6					chr9	TogoVar
CDK9_chr9_127781034_127795792	127788540	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG01070.hp2 HG01071.hp2 others(2): Show HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01192.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0006t0004 a0001c0001t0001 a0001c0001t0004 a0001c0006t0004	a0001c0001t0001g0029 a0001c0001t0004g0014 a0001c0006t0004g0014 a0001c0001t0001g0029 a0001c0001t0004g0014 a0001c0006t0004g0014	5	412	0.0121	0	c.605 others(5): Show c.605-4C>T		CDK9	ENSG00000136807.14	transcript	ENST00000373264.5	protein_coding	5/6					chr9	TogoVar
CDK9_chr9_127781034_127795792	127789170	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	412	0.0024	0	c.754 others(5): Show c.754-8C>T		CDK9	ENSG00000136807.14	transcript	ENST00000373264.5	protein_coding	6/6					chr9	TogoVar
CDKAL1_chr6_20529457_21237404	20758577	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02572.hp2 HG03130.hp1 others(4): Show HG02109.hp2 HG02572.hp2 HG03130.hp1 HG03516.hp2 NA18953.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0002t0011 a0002c0003t0004 a0002c0003t0010	a0001c0001t0003g0082 a0001c0001t0005g0137 a0001c0001t0008g0159 others(4): Show a0001c0001t0003g0082 a0001c0001t0005g0137 a0001c0001t0008g0159 a0001c0001t0016g0178 a0001c0002t0011g0131 a0002c0003t0004g0132 a0002c0003t0010g0134	7	196	0.0357	1	c.469 others(6): Show c.469-5dupT		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15				INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20758577	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00544.hp2 HG00621.hp2 others(46): Show HG00140.hp1 HG00544.hp2 HG00621.hp2 HG01109.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02132.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp1 HG04228.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18956.hp1 NA18966.hp2 NA18983.hp2 NA18992.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19082.hp1 NA19091.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0002c0003 a0002c0007 a0004c0016	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(31): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0034 a0001c0002t0044 a0001c0004t0001 a0001c0004t0004 a0001c0004t0018 a0001c0004t0037 a0001c0005t0001 a0001c0006t0009 a0001c0008t0011 a0001c0010t0007 a0001c0011t0004 a0001c0012t0022 a0002c0003t0002 a0002c0003t0005 a0002c0003t0013 a0002c0003t0020 a0002c0007t0002 a0002c0007t0005 a0002c0007t0029 a0002c0007t0038 a0004c0016t0001	a0001c0001t0003g0113 a0001c0001t0007g0043 a0001c0001t0009g0138 others(46): Show a0001c0001t0003g0113 a0001c0001t0007g0043 a0001c0001t0009g0138 a0001c0001t0010g0035 a0001c0001t0010g0109 a0001c0001t0018g0005 a0001c0001t0023g0115 a0001c0001t0025g0060 a0001c0002t0001g0148 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0003g0020 a0001c0002t0003g0032 a0001c0002t0003g0073 a0001c0002t0012g0039 a0001c0002t0013g0034 a0001c0002t0016g0045 a0001c0002t0034g0182 a0001c0002t0044g0038 a0001c0004t0001g0099 a0001c0004t0004g0102 a0001c0004t0004g0133 a0001c0004t0018g0017 a0001c0004t0037g0098 a0001c0005t0001g0009 a0001c0006t0009g0078 a0001c0008t0011g0068 a0001c0008t0011g0069 a0001c0010t0007g0044 a0001c0011t0004g0100 a0001c0012t0022g0135 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0005g0036 a0002c0003t0005g0053 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0013g0037 a0002c0003t0020g0075 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062 a0002c0007t0029g0014 a0002c0007t0038g0173 a0004c0016t0001g0185	49	196	0.2500	-1	c.469 others(6): Show c.469-5delT		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15				INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21230844	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02818.hp1 HG02055.hp2 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0034 a0001c0012t0022 a0001c0002t0034 a0001c0012t0022	a0001c0002t0034g0182 a0001c0012t0022g0135 a0001c0002t0034g0182 a0001c0012t0022g0135	2	196	0.0102	0	c.154 others(6): Show c.1549-4A>G		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	15/15					chr6	TogoVar
CDKL1_chr14_50321265_50401881	50395673	GAAAAAAA others(15): Show GAAAAAAAAGGAAAAGTGAATCA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0237 a0002c0002t0025g0237	1	306	0.0033	-22	c.168 others(34): Show c.168+6_168+27delTGATTCACTTTTCCTTTTTTTT		CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9					chr14	TogoVar
CDKL4_chr2_39170646_39248970	39179179	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18977.hp1 NA18980.hp2 NA19000.hp2 NA18977.hp1 NA18980.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0179 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0179	3	290	0.0103	0	c.927 others(5): Show c.927+8C>T		CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	9/9					chr2	TogoVar
CDKL4_chr2_39170646_39248970	39184593	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18980.hp1 NA18980.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0237 a0004c0006t0002g0237	1	290	0.0035	0	c.790 others(3): Show c.790A>G	p.Lys others(6): Show p.Lys264Glu	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	8/10	946/1534	790/1029	264/342		chr2	TogoVar
CDKN1A_chr6_36673714_36692332	36684099	G G	A A	splice_region_variant splice_region_variant	LOW	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0115 a0002c0002t0012g0115	1	454	0.0022	0	c.-3G others(2): Show c.-3G>A		CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	2/3					chr6	TogoVar
CDKN1B_chr12_12712368_12727369	12718819	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	442	0.0023	0	c.476 others(5): Show c.476-6G>T		CDKN1B	ENSG00000111276.12	transcript	ENST00000228872.9	protein_coding	1/2					chr12	TogoVar
CDKN2B_chr9_21997903_22014305	22008792	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03669.hp2 HG03927.hp2 HG03669.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	416	0.0048	0	c.156 others(5): Show c.156+6T>G		CDKN2B	ENSG00000147883.12	transcript	ENST00000276925.7	protein_coding	1/1					chr9	TogoVar
CDKN3_chr14_54392007_54425218	54408796	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(275): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(130): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0002c0002t0001g0128 a0004c0004t0001g0006	278	420	0.6619	0	c.193 others(5): Show c.193+7A>G		CDKN3	ENSG00000100526.21	transcript	ENST00000335183.11	protein_coding	4/7					chr14	TogoVar
CDON_chr11_125951821_126067866	126010693	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02896.hp1 HG02896.hp1	a0025 a0025	a0025c0057 a0025c0057	a0025c0057t0103 a0025c0057t0103	a0025c0057t0103g0321 a0025c0057t0103g0321	1	334	0.0030	0	c.120 others(4): Show c.1200C>T	p.Asp others(6): Show p.Asp400Asp	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	8/20	1549/8265	1200/3795	400/1264		chr11	TogoVar
CDPF1_chr22_46239013_46255293	46247227	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	280	0.0036	0	c.114 others(5): Show c.114-6C>T		CDPF1	ENSG00000205643.11	transcript	ENST00000314567.8	protein_coding	2/3					chr22	TogoVar
CDPF1_chr22_46239013_46255293	46248291	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	280	0.0036	0	c.1-7 others(3): Show c.1-7C>T		CDPF1	ENSG00000205643.11	transcript	ENST00000314567.8	protein_coding	1/3					chr22	TogoVar
CDR2L_chr17_74982632_75010800	74988125	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0053 a0001c0001t0027g0053	1	352	0.0028	0	c.79+ others(4): Show c.79+3G>A		CDR2L	ENSG00000109089.7	transcript	ENST00000337231.5	protein_coding	1/4					chr17	TogoVar
CDR2L_chr17_74982632_75010800	74999500	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp2 HG03139.hp1 HG03453.hp2 others(1): Show HG02970.hp2 HG03139.hp1 HG03453.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0001c0002t0009 a0003c0005t0002 a0001c0002t0002 a0001c0002t0009 a0003c0005t0002	a0001c0002t0002g0108 a0001c0002t0009g0055 a0001c0002t0009g0056 others(1): Show a0001c0002t0002g0108 a0001c0002t0009g0055 a0001c0002t0009g0056 a0003c0005t0002g0239	4	352	0.0114	0	c.80- others(4): Show c.80-4C>T		CDR2L	ENSG00000109089.7	transcript	ENST00000337231.5	protein_coding	1/4					chr17	TogoVar
CDR2_chr16_22340936_22379619	22364897	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp1 HG02738.hp1 HG03491.hp1 others(7): Show HG02129.hp1 HG02738.hp1 HG03491.hp1 HG03710.hp1 HG03831.hp2 NA18952.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0059 a0001c0001t0001g0060 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066	10	310	0.0323	0	c.192 others(5): Show c.192+5T>A		CDR2	ENSG00000140743.8	transcript	ENST00000268383.7	protein_coding	2/4					chr16	TogoVar
CDRT15_chr17_14230673_14241862	14236574	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(434): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0005c0007 a0006c0006 a0007c0008 a0008c0010 a0009c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0002c0003t0001 a0005c0007t0001 a0006c0006t0001 a0007c0008t0001 a0008c0010t0001 a0009c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0003g0016 a0001c0001t0005g0026 a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0028 a0001c0002t0002g0014 a0001c0002t0004g0021 a0002c0003t0001g0005 a0005c0007t0001g0012 a0006c0006t0001g0011 a0007c0008t0001g0017 a0008c0010t0001g0024 a0009c0009t0001g0023	437	462	0.9459	0	c.260 others(3): Show c.260T>G	p.Leu others(5): Show p.Leu87Arg	CDRT15	ENSG00000223510.7	transcript	ENST00000420162.7	protein_coding	1/3	289/779	260/567	87/188		chr17	TogoVar
CDRT15_chr17_14230673_14241862	14236574	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00558.hp1 HG01081.hp1 HG01106.hp1 others(17): Show HG00558.hp1 HG01081.hp1 HG01106.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01928.hp1 HG01943.hp2 HG02074.hp1 HG02165.hp2 HG02293.hp1 HG03490.hp2 NA18940.hp1 NA18963.hp2 NA18966.hp1 NA18969.hp2 NA18974.hp2 NA18995.hp2 NA19089.hp2 NA20129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0007 a0003c0004t0001g0008 a0003c0004t0001g0007 a0003c0004t0001g0008	20	462	0.0433	0	c.260 others(3): Show c.260T>A	p.Leu others(5): Show p.Leu87His	CDRT15	ENSG00000223510.7	transcript	ENST00000420162.7	protein_coding	1/3	289/779	260/567	87/188		chr17	TogoVar
CDRT4_chr17_15431015_15472621	15440207	CCTT CCTT	C C	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	HG00741.hp1 HG02109.hp2 HG02451.hp1 others(12): Show HG00741.hp1 HG02109.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG03453.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0007 a0004c0004t0001g0028 a0004c0004t0001g0156 others(5): Show a0004c0004t0001g0007 a0004c0004t0001g0028 a0004c0004t0001g0156 a0004c0004t0001g0159 a0004c0004t0001g0160 a0004c0004t0001g0161 a0004c0004t0001g0162 a0004c0004t0001g0249	15	430	0.0349	-3	c.29_ others(8): Show c.29_31delAAG	p.Glu others(5): Show p.Glu10del	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding	3/4	322/2508	29/459	10/152		chr17	TogoVar
CDRT4_chr17_15431015_15472621	15440285	C C	T T	splice_region_variant splice_region_variant	LOW	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0115 a0001c0001t0015g0115	1	430	0.0023	0	c.-47 others(3): Show c.-47G>A		CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding	3/4					chr17	TogoVar
CDS1_chr4_84578127_84656334	84635256	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG03098.hp1 HG03486.hp1 others(2): Show HG02055.hp1 HG03098.hp1 HG03486.hp1 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0044 others(2): Show a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0046	5	384	0.0130	0	c.723 others(5): Show c.723-8A>T		CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	7/12					chr4	TogoVar
CDS2_chr20_5122008_5202887	5182383	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0318 a0001c0001t0086g0318	1	348	0.0029	0	c.530 others(5): Show c.530-4C>T		CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	5/12					chr20	TogoVar
CDS2_chr20_5122008_5202887	5183151	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02723.hp1 HG02809.hp2 others(2): Show HG02622.hp2 HG02723.hp1 HG02809.hp2 HG03927.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0037 a0001c0001t0041 a0001c0004t0016 a0001c0001t0037 a0001c0001t0041 a0001c0004t0016	a0001c0001t0037g0060 a0001c0001t0041g0050 a0001c0004t0016g0032 others(2): Show a0001c0001t0037g0060 a0001c0001t0041g0050 a0001c0004t0016g0032 a0001c0004t0016g0051 a0001c0004t0016g0169	5	348	0.0144	0	c.671 others(5): Show c.671+8T>A		CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	7/12					chr20	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)