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	chr	external
DBN1_chr5_177451610_177478634	177468104	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG02622.hp2 HG02895.hp1 HG02897.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0001 a0002c0002t0009	a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0009g0046 others(1): Show a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0009g0046 a0002c0002t0009g0047	4	346	0.0116	0	c.255 others(5): Show c.255+4T>C		DBN1	ENSG00000113758.14	transcript	ENST00000393565.6	protein_coding	3/14				chr5	TogoVar
DBN1_chr5_177451610_177478634	177468225	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG06807.hp1 HG02486.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0015 a0002c0002t0001 a0002c0002t0015	a0002c0002t0001g0231 a0002c0002t0015g0232 a0002c0002t0001g0231 a0002c0002t0015g0232	2	346	0.0058	0	c.143 others(5): Show c.143-5C>T		DBN1	ENSG00000113758.14	transcript	ENST00000393565.6	protein_coding	2/14				chr5	TogoVar
DBNDD2_chr20_45403289_45415607	45409934	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(309): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 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 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 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 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0002g0004 a0001c0001t0003g0001 a0001c0001t0004g0001 a0001c0001t0005g0001 a0001c0003t0001g0001	312	416	0.7500	0	c.280 others(3): Show c.280A>G	p.Met others(5): Show p.Met94Val	DBNDD2	ENSG00000244274.9	transcript	ENST00000372710.5	protein_coding	3/3	459/1132	280/486	94/161	chr20	TogoVar
DBNL_chr7_44039702_44074456	44058434	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0098 a0003c0007t0002g0098	1	380	0.0026	0	c.707 others(3): Show c.707C>T	p.Thr others(6): Show p.Thr236Met	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding	8/13	743/9869	707/1293	236/430	chr7	TogoVar
DBNL_chr7_44039702_44074456	44060774	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00642.hp2 HG01069.hp1 others(3): Show HG00323.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01168.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0003 a0001c0001t0028	a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0085 others(2): Show a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0085 a0001c0001t0028g0042 a0001c0001t0028g0079	6	380	0.0158	0	c.115 others(6): Show c.1154-3C>T		DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding	12/12				chr7	TogoVar
DBR1_chr3_138155988_138179921	138163862	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG03209.hp1 HG02257.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0081 a0001c0001t0008g0065 a0001c0001t0001g0081 a0001c0001t0008g0065	2	370	0.0054	0	c.715 others(5): Show c.715-4C>T		DBR1	ENSG00000138231.14	transcript	ENST00000260803.9	protein_coding	5/7				chr3	TogoVar
DBT_chr1_100181919_100254834	100206224	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01261.hp1 HG01975.hp1 others(1): Show HG00639.hp1 HG01261.hp1 HG01975.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0122 a0001c0001t0005g0160 others(1): Show a0001c0001t0005g0118 a0001c0001t0005g0122 a0001c0001t0005g0160 a0001c0001t0005g0192	4	222	0.0180	0	c.128 others(6): Show c.1281+6T>G		DBT	ENSG00000137992.15	transcript	ENST00000370132.8	protein_coding	10/10				chr1	TogoVar
DBT_chr1_100181919_100254834	100206304	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01257.hp1 HG01257.hp2 others(1): Show HG01109.hp1 HG01257.hp1 HG01257.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0051	a0001c0001t0001g0026 a0001c0001t0002g0219 a0001c0001t0004g0004 others(1): Show a0001c0001t0001g0026 a0001c0001t0002g0219 a0001c0001t0004g0004 a0001c0001t0051g0069	4	222	0.0180	-1	c.121 others(7): Show c.1210-4delA		DBT	ENSG00000137992.15	transcript	ENST00000370132.8	protein_coding	9/10				chr1	TogoVar
DBX1_chr11_20151155_20165475	20157029	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG04184.hp2 NA18955.hp1 others(7): Show HG00438.hp2 HG04184.hp2 NA18955.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18981.hp1 NA18988.hp2 NA19074.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0010 a0001c0001t0001g0033	10	480	0.0208	0	c.672 others(5): Show c.672+8C>T		DBX1	ENSG00000109851.7	transcript	ENST00000524983.3	protein_coding	3/3				chr11	TogoVar
DBX2_chr12_45009672_45056099	45050517	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0298 a0001c0001t0005g0298	1	416	0.0024	0	c.403 others(5): Show c.403+8A>T		DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	1/3				chr12	TogoVar
DCAF12L1_chrX_126544383_126557814	126551109	TG TG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18982.hp1 NA18982.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0010 a0005c0006t0006g0010	1	284	0.0035	-1	c.23 others(6): Show c.23-3delC		DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/1				chrX	TogoVar
DCAF12L1_chrX_126544383_126557814	126551114	A A	ACC ACC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19006.hp1 NA19006.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0005 a0011c0015t0005	a0011c0015t0005g0008 a0011c0015t0005g0008	1	284	0.0035	2	c.23 others(13): Show c.23-8_*23-7insGG		DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/1				chrX	TogoVar
DCAF13_chr8_103410386_103448453	103432741	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01975.hp1 HG01975.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0002 a0003c0008t0001g0002	1	342	0.0029	0	c.785 others(3): Show c.785A>C	p.Asn others(6): Show p.Asn262Thr	DCAF13	ENSG00000164934.15	transcript	ENST00000612750.5	protein_coding	7/11	846/1970	785/1338	262/445	chr8	TogoVar
DCAF15_chr19_13947509_13966449	13952651	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp1 HG03516.hp2 HG03195.hp1 HG03516.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0040 a0003c0005t0002g0040	2	400	0.0050	0	c.132 others(5): Show c.132+7C>T		DCAF15	ENSG00000132017.11	transcript	ENST00000254337.11	protein_coding	1/12				chr19	TogoVar
DCAF15_chr19_13947509_13966449	13960283	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 NA18974.hp2 NA19059.hp1 HG00438.hp2 NA18974.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	3	400	0.0075	0	c.152 others(6): Show c.1527-4G>A		DCAF15	ENSG00000132017.11	transcript	ENST00000254337.11	protein_coding	10/12				chr19	TogoVar
DCAF16_chr4_17795655_17815757	17805104	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02135.hp1 HG02135.hp2 HG02135.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	2	424	0.0047	0	c.-63 others(6): Show c.-631+3A>T		DCAF16	ENSG00000163257.11	transcript	ENST00000382247.6	protein_coding	2/2				chr4	TogoVar
DCAF17_chr2_171429226_171490052	171480031	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00408.hp1 HG00597.hp2 others(90): Show HG00280.hp2 HG00408.hp1 HG00597.hp2 HG00621.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02109.hp1 HG02135.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03239.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19072.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0002t0015 a0001c0002t0023 others(3): Show a0001c0002t0002 a0001c0002t0015 a0001c0002t0023 a0001c0002t0025 a0001c0002t0026 a0001c0009t0002	a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0008 others(71): Show a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0244 a0001c0002t0015g0031 a0001c0002t0023g0025 a0001c0002t0025g0110 a0001c0002t0026g0030 a0001c0009t0002g0140	93	360	0.2583	0	c.126 others(6): Show c.1267-7C>T		DCAF17	ENSG00000115827.14	transcript	ENST00000375255.8	protein_coding	12/13				chr2	TogoVar
DCAF1_chr3_51392842_51505015	51463234	AG AG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp2 HG01169.hp2 HG01496.hp1 HG01168.hp2 HG01169.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0168 a0001c0001t0001g0180 a0001c0004t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0180 a0001c0004t0001g0164	3	274	0.0110	-1	c.262 others(6): Show c.262-8delC		DCAF1	ENSG00000145041.17	transcript	ENST00000684031.1	protein_coding	5/24				chr3	TogoVar
DCAF4_chr14_72921464_72964703	72937968	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG06807.hp1 HG02572.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0195 a0001c0001t0001g0196	2	396	0.0051	0	c.-8- others(4): Show c.-8-3T>C		DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	1/13				chr14	TogoVar
DCAF4_chr14_72921464_72964703	72937972	A A	C C	splice_region_variant splice_region_variant	LOW	HG00140.hp2 HG00408.hp2 HG00558.hp1 others(101): Show HG00140.hp2 HG00408.hp2 HG00558.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02293.hp2 HG02523.hp1 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02886.hp1 HG03017.hp2 HG03710.hp1 HG03834.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0014 a0003c0005 a0001c0001 a0001c0014 a0003c0005	a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0014t0002 a0003c0005t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0018 others(97): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0175 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0277 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0009g0012 a0001c0001t0009g0208 a0001c0001t0009g0281 a0001c0001t0009g0295 a0001c0001t0009g0308 a0001c0001t0009g0346 a0001c0001t0009g0367 a0001c0001t0013g0211 a0001c0014t0002g0036 a0003c0005t0002g0055 a0003c0005t0002g0058 a0003c0005t0002g0072 a0003c0005t0002g0080 a0003c0005t0002g0109 a0003c0005t0002g0171	104	396	0.2626	0	c.-7A others(2): Show c.-7A>C		DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	2/14				chr14	TogoVar
DCAF4_chr14_72921464_72964703	72938077	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0058 a0003c0005t0002g0058	1	396	0.0025	0	c.92+ others(4): Show c.92+7G>A		DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	2/13				chr14	TogoVar
DCAF4_chr14_72921464_72964703	72946031	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp1 HG04204.hp2 HG02602.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0096 a0001c0001t0002g0098	2	396	0.0051	0	c.678 others(5): Show c.678+4C>A		DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	7/13				chr14	TogoVar
DCAF4_chr14_72921464_72964703	72946031	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00323.hp2 HG00558.hp2 others(67): Show HG00099.hp2 HG00323.hp2 HG00558.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG02015.hp1 HG02071.hp2 HG02080.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG03834.hp1 HG04228.hp1 NA18522.hp2 NA18940.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp1 NA18963.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18988.hp2 NA18990.hp1 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19011.hp1 NA19062.hp2 NA19068.hp2 NA19075.hp1 NA19081.hp2 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0012 a0001c0002 a0009c0012	a0001c0002t0001 a0001c0002t0004 a0009c0012t0001 a0001c0002t0001 a0001c0002t0004 a0009c0012t0001	a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0023 others(66): Show a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0090 a0001c0002t0001g0097 a0001c0002t0001g0110 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0181 a0001c0002t0001g0184 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0221 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0347 a0001c0002t0001g0348 a0001c0002t0001g0349 a0001c0002t0001g0350 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0001g0355 a0001c0002t0001g0356 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0363 a0001c0002t0001g0372 a0001c0002t0001g0373 a0001c0002t0001g0374 a0001c0002t0004g0268 a0001c0002t0004g0282 a0001c0002t0004g0294 a0001c0002t0004g0296 a0001c0002t0004g0319 a0001c0002t0004g0371 a0001c0002t0004g0376 a0001c0002t0004g0377 a0001c0002t0004g0378 a0001c0002t0004g0379 a0001c0002t0004g0380 a0001c0002t0004g0381 a0001c0002t0004g0382 a0009c0012t0001g0360	70	396	0.1768	0	c.678 others(5): Show c.678+4C>T		DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	7/13				chr14	TogoVar
DCAF4_chr14_72921464_72964703	72954381	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0329 a0001c0001t0004g0329	1	396	0.0025	0	c.908 others(5): Show c.908-5G>A		DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	10/13				chr14	TogoVar
DCAF4_chr14_72921464_72964703	72958607	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(124): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02293.hp2 HG02523.hp1 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA21309.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0013	a0001c0001 a0001c0014 a0003c0005 others(2): Show a0001c0001 a0001c0014 a0003c0005 a0008c0010 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0014t0002 a0003c0005t0002 a0008c0010t0004 a0013c0018t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0078 others(120): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0251 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0366 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0175 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0277 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0004g0318 a0001c0001t0009g0012 a0001c0001t0009g0208 a0001c0001t0009g0281 a0001c0001t0009g0295 a0001c0001t0009g0308 a0001c0001t0009g0346 a0001c0001t0009g0367 a0001c0001t0011g0249 a0001c0001t0011g0270 a0001c0001t0013g0211 a0001c0014t0002g0036 a0003c0005t0002g0055 a0003c0005t0002g0058 a0003c0005t0002g0072 a0003c0005t0002g0080 a0003c0005t0002g0109 a0003c0005t0002g0171 a0008c0010t0004g0226 a0013c0018t0001g0198	127	396	0.3207	0	c.129 others(6): Show c.1295-5C>T		DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	13/13				chr14	TogoVar
DCAF6_chr1_167931683_168080836	168044900	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp1 HG02258.hp1 HG02622.hp2 others(6): Show HG02109.hp1 HG02258.hp1 HG02622.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0245 a0003c0005t0001g0246 a0003c0005t0001g0247 others(6): Show a0003c0005t0001g0245 a0003c0005t0001g0246 a0003c0005t0001g0247 a0003c0005t0001g0248 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0005t0001g0252 a0003c0005t0001g0253	9	266	0.0338	0	c.193 others(4): Show c.1931C>T	p.Thr others(6): Show p.Thr644Ile	DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	16/22	2160/3486	1931/2856	644/951	chr1	TogoVar
DCAF8_chr1_160210720_160267549	160215722	G G	A A	splice_region_variant splice_region_variant	LOW	HG00438.hp2 NA18940.hp1 NA18951.hp1 others(1): Show HG00438.hp2 NA18940.hp1 NA18951.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0007 a0001c0002t0006g0040 a0001c0002t0006g0007 a0001c0002t0006g0040	4	336	0.0119	0	c.18 others(5): Show c.1870C>T		DCAF8	ENSG00000132716.19	transcript	ENST00000368074.6	protein_coding	14/14				chr1	TogoVar
DCAKD_chr17_45018344_45056632	45034774	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19058.hp1 NA19074.hp2 NA19091.hp1 NA19058.hp1 NA19074.hp2 NA19091.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0009 a0003c0005t0007 a0003c0005t0009	a0003c0005t0007g0049 a0003c0005t0009g0245 a0003c0005t0009g0267 a0003c0005t0007g0049 a0003c0005t0009g0245 a0003c0005t0009g0267	3	408	0.0074	0	c.112 others(3): Show c.112G>A	p.Val others(5): Show p.Val38Ile	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding	2/5	498/2171	112/696	38/231	chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051361	C C	T T	splice_region_variant splice_region_variant	LOW	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0193 a0001c0001t0059g0193	1	408	0.0025	0	c.-11 others(4): Show c.-115G>A		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding	1/5				chr17	TogoVar
DCBLD1_chr6_117477674_117554797	117503978	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0187 a0003c0015t0002g0187	1	370	0.0027	0	c.324 others(3): Show c.324T>C	p.Tyr others(6): Show p.Tyr108Tyr	DCBLD1	ENSG00000164465.19	transcript	ENST00000338728.10	protein_coding	2/15	432/3614	324/2148	108/715	chr6	TogoVar
DCBLD2_chr3_98790941_98906695	98881541	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00597.hp2 HG02165.hp2 others(5): Show HG00280.hp2 HG00597.hp2 HG02165.hp2 HG04184.hp1 HG04228.hp2 NA19074.hp1 NA19084.hp1 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0044 a0003c0006t0007 a0003c0006t0044	a0003c0006t0007g0162 a0003c0006t0007g0163 a0003c0006t0007g0164 others(5): Show a0003c0006t0007g0162 a0003c0006t0007g0163 a0003c0006t0007g0164 a0003c0006t0007g0166 a0003c0006t0007g0167 a0003c0006t0007g0168 a0003c0006t0007g0169 a0003c0006t0044g0158	8	330	0.0242	0	c.432 others(3): Show c.432A>G	p.Ile others(6): Show p.Ile144Met	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/16	801/6128	432/2328	144/775	chr3	TogoVar
DCC_chr18_52335197_53540899	52340885	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02922.hp2 HG03098.hp1 others(1): Show HG02257.hp1 HG02922.hp2 HG03098.hp1 NA19043.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0006 a0003c0024 others(1): Show a0001c0002 a0003c0006 a0003c0024 a0005c0021	a0001c0002t0006 a0003c0006t0010 a0003c0024t0009 others(1): Show a0001c0002t0006 a0003c0006t0010 a0003c0024t0009 a0005c0021t0031	a0001c0002t0006g0003 a0003c0006t0010g0001 a0003c0024t0009g0002 others(1): Show a0001c0002t0006g0003 a0003c0006t0010g0001 a0003c0024t0009g0002 a0005c0021t0031g0004	4	114	0.0351	0	c.91+ others(4): Show c.91+7G>A		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28				chr18	TogoVar
DCC_chr18_52335197_53540899	53066048	A A	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0024 a0002c0022t0024	a0002c0022t0024g0031 a0002c0022t0024g0031	1	114	0.0088	0	c.114 others(4): Show c.1143A>T	p.Gly others(6): Show p.Gly381Gly	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/29	1734/10181	1143/4344	381/1447	chr18	TogoVar
DCC_chr18_52335197_53540899	53157357	T T	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01261.hp2 HG01346.hp2 HG01993.hp2 HG01261.hp2 HG01346.hp2 HG01993.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0023 a0001c0008t0025 a0001c0008t0026 a0001c0008t0023 a0001c0008t0025 a0001c0008t0026	a0001c0008t0023g0098 a0001c0008t0025g0086 a0001c0008t0026g0095 a0001c0008t0023g0098 a0001c0008t0025g0086 a0001c0008t0026g0095	3	114	0.0263	0	c.126 others(4): Show c.1263T>A	p.Ala others(6): Show p.Ala421Ala	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	8/29	1854/10181	1263/4344	421/1447	chr18	TogoVar
DCDC1_chr11_30858603_31374739	30878716	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp2 HG00741.hp1 HG00741.hp2 others(52): Show HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01952.hp1 HG02056.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02809.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18959.hp1 NA18959.hp2 NA18968.hp1 NA18968.hp2 NA18987.hp1 NA18998.hp1 NA19004.hp1 NA19030.hp2 NA19062.hp1 NA19068.hp1 NA19070.hp2 NA19084.hp2 NA19086.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0008 a0014 a0016 a0018 a0021 a0023 a0024 a0026 a0028	a0001c0001 a0001c0002 a0001c0006 others(12): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0004 a0005c0005 a0008c0011 a0014c0029 a0016c0026 a0018c0018 a0021c0022 a0023c0023 a0024c0030 a0026c0032 a0028c0035	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0010 a0002c0003t0001 a0002c0003t0002 a0003c0004t0002 a0005c0005t0001 a0005c0005t0002 a0008c0011t0003 a0014c0029t0001 a0016c0026t0001 a0018c0018t0007 a0021c0022t0001 a0023c0023t0001 a0024c0030t0001 a0026c0032t0001 a0028c0035t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(52): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0002g0008 a0001c0001t0002g0019 a0001c0001t0002g0083 a0001c0002t0001g0050 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0002g0051 a0001c0002t0002g0058 a0001c0006t0010g0124 a0002c0003t0001g0044 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0110 a0002c0003t0001g0117 a0002c0003t0002g0095 a0003c0004t0002g0130 a0005c0005t0001g0146 a0005c0005t0001g0150 a0005c0005t0002g0147 a0008c0011t0003g0088 a0008c0011t0003g0089 a0014c0029t0001g0113 a0016c0026t0001g0099 a0018c0018t0007g0009 a0021c0022t0001g0014 a0023c0023t0001g0036 a0024c0030t0001g0078 a0026c0032t0001g0068 a0028c0035t0001g0067	55	152	0.3618	-1	c.523 others(7): Show c.5234-6delT		DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	37/38				chr11	TogoVar
DCDC1_chr11_30858603_31374739	30952568	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00438.hp1 HG00639.hp1 others(15): Show HG00280.hp2 HG00438.hp1 HG00639.hp1 HG01243.hp2 HG01258.hp2 HG01496.hp1 HG01928.hp2 HG01952.hp2 HG02055.hp1 HG02080.hp2 HG02132.hp1 HG02523.hp1 HG02698.hp1 HG02818.hp1 HG03239.hp1 HG06807.hp2 NA19062.hp2 NA19068.hp2	a0004 a0006 a0007 others(1): Show a0004 a0006 a0007 a0013	a0004c0008 a0004c0009 a0006c0007 others(2): Show a0004c0008 a0004c0009 a0006c0007 a0007c0010 a0013c0014	a0004c0008t0001 a0004c0009t0001 a0004c0009t0006 others(3): Show a0004c0008t0001 a0004c0009t0001 a0004c0009t0006 a0006c0007t0001 a0007c0010t0001 a0013c0014t0001	a0004c0008t0001g0053 a0004c0008t0001g0054 a0004c0008t0001g0057 others(15): Show a0004c0008t0001g0053 a0004c0008t0001g0054 a0004c0008t0001g0057 a0004c0008t0001g0076 a0004c0008t0001g0079 a0004c0009t0001g0006 a0004c0009t0001g0043 a0004c0009t0001g0046 a0004c0009t0006g0001 a0006c0007t0001g0102 a0006c0007t0001g0104 a0006c0007t0001g0111 a0006c0007t0001g0114 a0006c0007t0001g0115 a0006c0007t0001g0116 a0007c0010t0001g0129 a0007c0010t0001g0132 a0013c0014t0001g0139	18	152	0.1184	0	c.259 others(4): Show c.2592G>T	p.Arg others(6): Show p.Arg864Ser	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	21/39	2759/7298	2592/5361	864/1786	chr11	TogoVar
DCDC2B_chr1_32204089_32221192	32211272	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0056 a0001c0010t0001g0056	1	404	0.0025	0	c.267 others(3): Show c.267C>T	p.His others(5): Show p.His89His	DCDC2B	ENSG00000222046.3	transcript	ENST00000409358.2	protein_coding	2/9	272/1350	267/1050	89/349	chr1	TogoVar
DCDC2B_chr1_32204089_32221192	32211321	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG01934.hp1 HG01934.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0082 a0007c0009t0001g0082	1	404	0.0025	0	c.316 others(3): Show c.316C>T	p.Gln others(4): Show p.Gln106*	DCDC2B	ENSG00000222046.3	transcript	ENST00000409358.2	protein_coding	2/9	321/1350	316/1050	106/349	chr1	TogoVar
DCDC2B_chr1_32204089_32221192	32212063	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18970.hp2 NA18999.hp2 NA19075.hp2 others(1): Show NA18970.hp2 NA18999.hp2 NA19075.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0024 a0001c0001t0001g0027	4	404	0.0099	0	c.396 others(5): Show c.396-7G>A		DCDC2B	ENSG00000222046.3	transcript	ENST00000409358.2	protein_coding	3/8				chr1	TogoVar
DCDC2B_chr1_32204089_32221192	32214938	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	404	0.0025	0	c.850 others(5): Show c.850+6G>A		DCDC2B	ENSG00000222046.3	transcript	ENST00000409358.2	protein_coding	7/8				chr1	TogoVar
DCDC2C_chr2_3698575_3853008	3752906	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(161): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19088.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0003 a0004	a0000c0011 a0001c0001 a0002c0004 others(2): Show a0000c0011 a0001c0001 a0002c0004 a0003c0009 a0004c0007	a0000c0011t0023 a0001c0001t0001 a0001c0001t0002 others(19): Show a0000c0011t0023 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0018 a0003c0009t0004 a0003c0009t0009 a0004c0007t0001 a0004c0007t0002	a0000c0011t0023g0046 a0001c0001t0001g0020 a0001c0001t0001g0025 others(160): Show a0000c0011t0023g0046 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0001g0249 a0001c0001t0001g0298 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0048 a0001c0001t0002g0072 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0245 a0001c0001t0002g0297 a0001c0001t0002g0307 a0001c0001t0003g0004 a0001c0001t0003g0023 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0317 a0001c0001t0004g0007 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0080 a0001c0001t0004g0254 a0001c0001t0004g0258 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0275 a0001c0001t0004g0282 a0001c0001t0004g0294 a0001c0001t0004g0300 a0001c0001t0004g0316 a0001c0001t0004g0321 a0001c0001t0005g0049 a0001c0001t0005g0054 a0001c0001t0005g0059 a0001c0001t0005g0120 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0259 a0001c0001t0005g0271 a0001c0001t0005g0280 a0001c0001t0005g0288 a0001c0001t0005g0322 a0001c0001t0006g0051 a0001c0001t0006g0116 a0001c0001t0006g0144 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0268 a0001c0001t0006g0286 a0001c0001t0006g0293 a0001c0001t0006g0299 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0007g0062 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0007g0083 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0095 a0001c0001t0007g0153 a0001c0001t0007g0312 a0001c0001t0009g0060 a0001c0001t0009g0273 a0001c0001t0009g0277 a0001c0001t0009g0278 a0001c0001t0009g0290 a0001c0001t0012g0269 a0001c0001t0012g0272 a0001c0001t0015g0074 a0001c0001t0015g0151 a0001c0001t0021g0106 a0001c0001t0022g0073 a0001c0001t0026g0050 a0002c0004t0001g0001 a0002c0004t0001g0187 a0002c0004t0001g0190 a0002c0004t0001g0194 a0002c0004t0002g0182 a0002c0004t0002g0184 a0002c0004t0002g0188 a0002c0004t0002g0192 a0002c0004t0003g0181 a0002c0004t0003g0183 a0002c0004t0003g0185 a0002c0004t0003g0186 a0002c0004t0003g0193 a0002c0004t0003g0197 a0002c0004t0003g0199 a0002c0004t0003g0202 a0002c0004t0003g0203 a0002c0004t0003g0207 a0002c0004t0003g0318 a0002c0004t0018g0233 a0003c0009t0004g0295 a0003c0009t0009g0270 a0004c0007t0001g0081 a0004c0007t0001g0082 a0004c0007t0002g0028 a0004c0007t0002g0041	164	324	0.5062	0	c.683 others(5): Show c.683+6C>T		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	5/10				chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3767885	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0191 a0002c0003t0003g0191	1	324	0.0031	0	c.853 others(5): Show c.853+5C>T		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	7/10				chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3767887	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(56): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp2 HG01496.hp1 HG01943.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02155.hp1 HG02293.hp1 HG03239.hp1 HG03942.hp1 NA18612.hp1 NA18941.hp1 NA18945.hp1 NA18953.hp1 NA18953.hp2 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp2 NA19083.hp1 NA19090.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0002t0003 a0001c0002t0007 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0004t0003	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 others(55): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0002g0027 a0001c0001t0002g0098 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0158 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0165 a0001c0001t0004g0254 a0001c0001t0004g0258 a0001c0001t0004g0267 a0001c0001t0004g0282 a0001c0001t0004g0300 a0001c0001t0005g0049 a0001c0001t0005g0322 a0001c0001t0006g0116 a0001c0001t0006g0144 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0268 a0001c0001t0006g0286 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0009g0060 a0001c0001t0009g0273 a0001c0001t0009g0278 a0001c0002t0003g0124 a0001c0002t0003g0129 a0001c0002t0007g0130 a0001c0002t0007g0131 a0002c0003t0001g0204 a0002c0003t0003g0191 a0002c0004t0001g0001 a0002c0004t0001g0187 a0002c0004t0003g0181 a0002c0004t0003g0185 a0002c0004t0003g0186 a0002c0004t0003g0193 a0002c0004t0003g0197 a0002c0004t0003g0202 a0002c0004t0003g0203	59	324	0.1821	0	c.853 others(5): Show c.853+7T>A		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	7/10				chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3778816	A A	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01123.hp2 HG02145.hp1 HG02486.hp1 others(11): Show HG01123.hp2 HG02145.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 NA18906.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0005c0010 a0001c0005 a0005c0010	a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 others(4): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0005t0008 a0001c0005t0010 a0005c0010t0013 a0005c0010t0019	a0001c0005t0001g0229 a0001c0005t0001g0231 a0001c0005t0001g0248 others(11): Show a0001c0005t0001g0229 a0001c0005t0001g0231 a0001c0005t0001g0248 a0001c0005t0001g0309 a0001c0005t0002g0149 a0001c0005t0002g0152 a0001c0005t0002g0308 a0001c0005t0005g0263 a0001c0005t0008g0171 a0001c0005t0008g0172 a0001c0005t0008g0177 a0001c0005t0010g0304 a0005c0010t0013g0243 a0005c0010t0019g0242	14	324	0.0432	0	c.955 others(3): Show c.955A>C	p.Arg others(6): Show p.Arg319Arg	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	9/11	1132/2097	955/1095	319/364	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3847136	CTTTTCTA others(23): Show CTTTTCTATGTCTTCCAGATGGCCCGGGAGT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18971.hp2 NA18971.hp2	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0023 a0000c0011t0023	a0000c0011t0023g0046 a0000c0011t0023g0046	1	324	0.0031	-30	c.106 others(42): Show c.1066-17_1078delTTTTCTATGTCTTCCAGATGGCCCGGGAGT	p.Met others(5): Show p.Met356fs	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	11/11		1066/1095	356/364	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24178324	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0062 a0002c0002t0018g0062	1	216	0.0046	0	c.132 others(6): Show c.1326+6T>C		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	9/9				chr6	TogoVar
DCHS1_chr11_6616330_6660809	6625727	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02486.hp1 HG03209.hp1 HG02486.hp1 HG03209.hp1	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0003 a0016c0026t0001 a0016c0026t0003	a0016c0026t0001g0131 a0016c0026t0003g0224 a0016c0026t0001g0131 a0016c0026t0003g0224	2	374	0.0054	0	c.673 others(4): Show c.6732G>A	p.Arg others(7): Show p.Arg2244Arg	DCHS1	ENSG00000166341.9	transcript	ENST00000299441.5	protein_coding	18/21	7099/10713	6732/9897	2244/3298	chr11	TogoVar
DCHS1_chr11_6616330_6660809	6629453	T T	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18994.hp2 NA19007.hp1 NA18994.hp2 NA19007.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0040 a0002c0025t0001g0040	2	374	0.0054	0	c.516 others(4): Show c.5160A>T	p.Thr others(7): Show p.Thr1720Thr	DCHS1	ENSG00000166341.9	transcript	ENST00000299441.5	protein_coding	12/21	5527/10713	5160/9897	1720/3298	chr11	TogoVar
DCHS1_chr11_6616330_6660809	6629582	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	374	0.0027	0	c.503 others(6): Show c.5036-5C>G		DCHS1	ENSG00000166341.9	transcript	ENST00000299441.5	protein_coding	11/20				chr11	TogoVar
DCHS1_chr11_6616330_6660809	6632023	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0026 a0002c0004t0001g0026	2	374	0.0054	0	c.348 others(6): Show c.3481+8C>T		DCHS1	ENSG00000166341.9	transcript	ENST00000299441.5	protein_coding	6/20				chr11	TogoVar

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