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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Select column to sort.

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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	status	chr	external
DRC3_chr17_17967862_18021889	18016873	TAAAAAA TAAAAAA	T T	splice_region_variant splice_region_variant	LOW	HG00609.hp1 HG02056.hp1 HG02135.hp1 others(7): Show HG00609.hp1 HG02056.hp1 HG02135.hp1 NA18980.hp1 NA18981.hp2 NA18988.hp2 NA19001.hp1 NA19004.hp2 NA19083.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0021 a0002c0002t0005g0022 a0002c0002t0005g0023 others(7): Show a0002c0002t0005g0021 a0002c0002t0005g0022 a0002c0002t0005g0023 a0002c0002t0005g0024 a0002c0002t0005g0025 a0002c0002t0005g0026 a0002c0002t0005g0027 a0002c0002t0005g0028 a0002c0002t0005g0029 a0002c0002t0005g0030	10	324	0.0309	-6	c.21 others(15): Show c.213_*218delAAAAAA		DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	14/14				INFO_REALIGN_3_PRIME	chr17	TogoVar
DRC7_chr16_57689806_57736805	57702135	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(74): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00733.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp2 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03516.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18975.hp2 NA18983.hp1 NA18985.hp1 NA18995.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19065.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0008 others(2): Show a0001 a0004 a0008 a0012 a0013	a0001c0001 a0004c0005 a0004c0015 others(4): Show a0001c0001 a0004c0005 a0004c0015 a0004c0041 a0008c0006 a0012c0044 a0013c0037	a0001c0001t0001 a0001c0001t0009 a0004c0005t0001 others(6): Show a0001c0001t0001 a0001c0001t0009 a0004c0005t0001 a0004c0005t0003 a0004c0015t0001 a0004c0041t0001 a0008c0006t0001 a0012c0044t0003 a0013c0037t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0034 others(67): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0198 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0290 a0001c0001t0009g0273 a0004c0005t0001g0045 a0004c0005t0001g0070 a0004c0005t0001g0108 a0004c0005t0003g0078 a0004c0015t0001g0069 a0004c0015t0001g0074 a0004c0015t0001g0075 a0004c0041t0001g0052 a0008c0006t0001g0016 a0008c0006t0001g0032 a0008c0006t0001g0076 a0008c0006t0001g0077 a0008c0006t0001g0202 a0008c0006t0001g0284 a0008c0006t0001g0300 a0008c0006t0001g0301 a0008c0006t0001g0302 a0012c0044t0003g0304 a0013c0037t0001g0089	77	388	0.1985	0	c.699 others(5): Show c.699+5G>A		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	6/18					chr16	TogoVar
DRC7_chr16_57689806_57736805	57722995	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp2 HG02083.hp1 HG02258.hp2 others(7): Show HG00609.hp2 HG02083.hp1 HG02258.hp2 HG02572.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp1	a0004 a0017 a0020 others(1): Show a0004 a0017 a0020 a0024	a0004c0005 a0017c0024 a0020c0027 others(1): Show a0004c0005 a0017c0024 a0020c0027 a0024c0032	a0004c0005t0001 a0017c0024t0007 a0020c0027t0001 others(1): Show a0004c0005t0001 a0017c0024t0007 a0020c0027t0001 a0024c0032t0004	a0004c0005t0001g0017 a0004c0005t0001g0096 a0004c0005t0001g0097 others(6): Show a0004c0005t0001g0017 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0246 a0017c0024t0007g0323 a0020c0027t0001g0106 a0024c0032t0004g0130	10	388	0.0258	0	c.140 others(6): Show c.1409-7C>A		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	11/18					chr16	TogoVar
DRC7_chr16_57689806_57736805	57723134	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01943.hp1 NA18941.hp1 NA19084.hp2 HG01943.hp1 NA18941.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0001g0245 a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0001g0245	3	388	0.0077	0	c.153 others(6): Show c.1537+4C>T		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	12/18					chr16	TogoVar
DRC7_chr16_57689806_57736805	57726824	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp2 NA18940.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0001 a0015c0039t0001	a0015c0039t0001g0160 a0015c0039t0001g0160	1	388	0.0026	0	c.197 others(6): Show c.1975-8T>C		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	14/18					chr16	TogoVar
DRC7_chr16_57689806_57736805	57726825	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp2 NA18940.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0001 a0015c0039t0001	a0015c0039t0001g0160 a0015c0039t0001g0160	1	388	0.0026	0	c.197 others(6): Show c.1975-7G>T		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	14/18					chr16	TogoVar
DRC7_chr16_57689806_57736805	57726827	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp2 NA18940.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0001 a0015c0039t0001	a0015c0039t0001g0160 a0015c0039t0001g0160	1	388	0.0026	0	c.197 others(6): Show c.1975-5C>T		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	14/18					chr16	TogoVar
DRC7_chr16_57689806_57736805	57726832	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18940.hp2 NA18940.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0001 a0015c0039t0001	a0015c0039t0001g0160 a0015c0039t0001g0160	1	388	0.0026	0	c.197 others(4): Show c.1975G>C	p.Val others(6): Show p.Val659Leu	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	15/19	2190/3387	1975/2625	659/874		chr16	TogoVar
DRC7_chr16_57689806_57736805	57726946	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp2 NA18940.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0001 a0015c0039t0001	a0015c0039t0001g0160 a0015c0039t0001g0160	1	388	0.0026	0	c.208 others(6): Show c.2085+4G>C		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	15/18					chr16	TogoVar
DRC7_chr16_57689806_57736805	57726947	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp2 NA18940.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0001 a0015c0039t0001	a0015c0039t0001g0160 a0015c0039t0001g0160	1	388	0.0026	0	c.208 others(6): Show c.2085+5G>T		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	15/18					chr16	TogoVar
DRC7_chr16_57689806_57736805	57726950	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp2 NA18940.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0001 a0015c0039t0001	a0015c0039t0001g0160 a0015c0039t0001g0160	1	388	0.0026	0	c.208 others(6): Show c.2085+8C>G		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	15/18					chr16	TogoVar
DRC7_chr16_57689806_57736805	57728386	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG01891.hp2 HG02109.hp2 others(18): Show HG01884.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp2 NA19030.hp1 NA19240.hp2 NA21309.hp1	a0003 a0004 a0006 others(3): Show a0003 a0004 a0006 a0012 a0019 a0021	a0003c0025 a0004c0005 a0004c0016 others(5): Show a0003c0025 a0004c0005 a0004c0016 a0006c0008 a0006c0010 a0012c0044 a0019c0026 a0021c0029	a0003c0025t0003 a0004c0005t0003 a0004c0016t0003 others(5): Show a0003c0025t0003 a0004c0005t0003 a0004c0016t0003 a0006c0008t0003 a0006c0010t0003 a0012c0044t0003 a0019c0026t0008 a0021c0029t0003	a0003c0025t0003g0079 a0004c0005t0003g0078 a0004c0005t0003g0252 others(17): Show a0003c0025t0003g0079 a0004c0005t0003g0078 a0004c0005t0003g0252 a0004c0016t0003g0289 a0006c0008t0003g0015 a0006c0008t0003g0071 a0006c0008t0003g0101 a0006c0008t0003g0104 a0006c0008t0003g0105 a0006c0008t0003g0274 a0006c0008t0003g0280 a0006c0008t0003g0293 a0006c0010t0003g0015 a0006c0010t0003g0031 a0006c0010t0003g0102 a0006c0010t0003g0207 a0006c0010t0003g0297 a0012c0044t0003g0304 a0019c0026t0008g0117 a0021c0029t0003g0084	21	388	0.0541	0	c.219 others(6): Show c.2197-4A>G		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	16/18					chr16	TogoVar
DRD4_chr11_632269_645706	639551	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0031 a0005c0005t0002g0031	1	421	0.0024	0	c.398 others(5): Show c.398+6C>T		DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	2/3					chr11	TogoVar
DRD4_chr11_632269_645706	640305	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01891.hp2 HG02055.hp1 HG02109.hp2 others(3): Show HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02965.hp1 HG03195.hp1 NA19030.hp1	a0000 a0008 a0020 a0000 a0008 a0020	a0000c0030 a0008c0012 a0020c0043 a0000c0030 a0008c0012 a0020c0043	a0000c0030t0001 a0008c0012t0001 a0020c0043t0001 a0000c0030t0001 a0008c0012t0001 a0020c0043t0001	a0000c0030t0001g0007 a0008c0012t0001g0001 a0008c0012t0001g0023 others(1): Show a0000c0030t0001g0007 a0008c0012t0001g0001 a0008c0012t0001g0023 a0020c0043t0001g0051	6	421	0.0143	0	c.105 others(4): Show c.1056C>G	p.Val others(6): Show p.Val352Val	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	1092/1399	1056/1260	352/419		chr11	TogoVar
DRG2_chr17_18082948_18112969	18100357	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(355): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 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 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.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 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0002c0006 a0003c0005 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0002 a0001c0002t0003 a0001c0003t0003 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0004 a0001c0013t0001 a0002c0006t0001 a0003c0005t0001 a0004c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(285): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0333 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0242 a0001c0001t0002g0301 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0004g0288 a0001c0001t0004g0331 a0001c0001t0005g0046 a0001c0001t0005g0327 a0001c0001t0006g0138 a0001c0001t0007g0223 a0001c0001t0008g0009 a0001c0001t0009g0241 a0001c0001t0010g0215 a0001c0001t0011g0031 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0003g0281 a0001c0003t0003g0017 a0001c0003t0003g0045 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0286 a0001c0003t0003g0287 a0001c0003t0003g0289 a0001c0003t0003g0313 a0001c0003t0003g0314 a0001c0003t0003g0315 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0003g0318 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0321 a0001c0003t0003g0322 a0001c0003t0003g0323 a0001c0004t0001g0018 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0007t0001g0058 a0001c0008t0001g0003 a0001c0009t0001g0334 a0001c0010t0001g0195 a0001c0011t0004g0330 a0001c0013t0001g0033 a0002c0006t0001g0012 a0003c0005t0001g0263 a0003c0005t0001g0277 a0003c0005t0001g0282 a0004c0012t0001g0002	358	418	0.8565	0	c.468 others(5): Show c.468-6T>G		DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	5/12					chr17	TogoVar
DRG2_chr17_18082948_18112969	18107147	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	418	0.0024	0	c.100 others(6): Show c.1009-7C>T		DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	12/12					chr17	TogoVar
DRG2_chr17_18082948_18112969	18107968	G G	A A	splice_region_variant splice_region_variant	LOW	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	1	418	0.0024	0	c.72 others(4): Show c.728G>A		DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	13/13					chr17	TogoVar
DRICH1_chr22_23603452_23637321	23608768	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01346.hp2 HG01346.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0146 a0012c0013t0001g0146	1	446	0.0022	0	c.686 others(3): Show c.686G>T	p.Gly others(6): Show p.Gly229Val	DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding	12/12	984/1300	686/690	229/229		chr22	TogoVar
DRICH1_chr22_23603452_23637321	23620622	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	446	0.0045	0	c.385 others(5): Show c.385-7G>A		DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding	4/11					chr22	TogoVar
DRICH1_chr22_23603452_23637321	23622085	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	446	0.0022	0	c.384 others(5): Show c.384+6A>G		DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding	4/11					chr22	TogoVar
DRICH1_chr22_23603452_23637321	23631807	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02257.hp1 HG02258.hp1 others(5): Show HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG03098.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0005c0006t0001 a0001c0001t0001 a0001c0001t0003 a0005c0006t0001	a0001c0001t0001g0033 a0001c0001t0003g0131 a0001c0001t0003g0132 others(4): Show a0001c0001t0001g0033 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0134 a0005c0006t0001g0133 a0005c0006t0001g0135 a0005c0006t0001g0136	8	446	0.0179	1	c.208 others(6): Show c.208+8dupA		DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding	1/11					chr22	TogoVar
DROSHA_chr5_31395494_31537093	31409242	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp1 NA18949.hp1 NA18968.hp2 NA18944.hp1 NA18949.hp1 NA18968.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0080 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0080	3	322	0.0093	0	c.375 others(6): Show c.3750+8C>T		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	32/35					chr5	TogoVar
DROSHA_chr5_31395494_31537093	31451533	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0295 a0001c0017t0001g0295	1	322	0.0031	0	c.268 others(4): Show c.2682G>A	p.Gln others(6): Show p.Gln894Gln	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	21/36	3035/5416	2682/4125	894/1374		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31515218	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0006 a0006	a0006c0031 a0006c0031	a0006c0031t0001 a0006c0031t0001	a0006c0031t0001g0238 a0006c0031t0001g0238	1	322	0.0031	0	c.106 others(4): Show c.1060C>T	p.Arg others(6): Show p.Arg354Cys	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	8/36	1413/5416	1060/4125	354/1374		chr5	TogoVar
DRP2_chrX_101214786_101269502	101231771	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	260	0.0039	0	c.117 others(5): Show c.117+7G>A		DRP2	ENSG00000102385.13	transcript	ENST00000395209.8	protein_coding	3/23					chrX	TogoVar
DRP2_chrX_101214786_101269502	101242327	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0173 a0001c0009t0005g0173	1	260	0.0039	0	c.831 others(3): Show c.831G>A	p.Leu others(6): Show p.Leu277Leu	DRP2	ENSG00000102385.13	transcript	ENST00000395209.8	protein_coding	8/24	1358/7282	831/2874	277/957		chrX	TogoVar
DRP2_chrX_101214786_101269502	101242900	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02559.hp2 NA21309.hp2 HG02258.hp1 HG02559.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0010 a0001c0001t0002 a0001c0003t0010	a0001c0001t0002g0041 a0001c0003t0010g0021 a0001c0003t0010g0026 a0001c0001t0002g0041 a0001c0003t0010g0021 a0001c0003t0010g0026	3	260	0.0115	0	c.976 others(5): Show c.976-4A>G		DRP2	ENSG00000102385.13	transcript	ENST00000395209.8	protein_coding	8/23					chrX	TogoVar
DRP2_chrX_101214786_101269502	101248295	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG01081.hp1 NA18972.hp1 HG00140.hp1 HG01081.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0048 a0001c0003t0007g0189 a0001c0003t0007g0190 a0001c0003t0007g0048 a0001c0003t0007g0189 a0001c0003t0007g0190	3	260	0.0115	0	c.145 others(6): Show c.1454+5G>A		DRP2	ENSG00000102385.13	transcript	ENST00000395209.8	protein_coding	13/23					chrX	TogoVar
DRP2_chrX_101214786_101269502	101252596	TC TC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0132 a0007c0012t0001g0132	1	260	0.0039	-1	c.186 others(7): Show c.1866-4delC		DRP2	ENSG00000102385.13	transcript	ENST00000395209.8	protein_coding	16/23				INFO_REALIGN_3_PRIME	chrX	TogoVar
DRP2_chrX_101214786_101269502	101254422	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp1 HG03453.hp2 HG02976.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0214 a0001c0001t0008g0215 a0001c0001t0008g0214 a0001c0001t0008g0215	2	260	0.0077	0	c.197 others(6): Show c.1978-3C>T		DRP2	ENSG00000102385.13	transcript	ENST00000395209.8	protein_coding	17/23					chrX	TogoVar
DSC1_chr18_31124236_31167856	31129235	A A	AT AT	splice_region_variant splice_region_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(168): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18963.hp1 NA18965.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA19001.hp2 NA19005.hp2 NA19006.hp1 NA19011.hp1 NA19056.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0008 a0011	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0018 a0001c0034 a0002c0002 a0002c0005 a0004c0010 a0004c0028 a0004c0029 a0005c0011 a0005c0025 a0007c0015 a0008c0023 a0011c0024	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0003t0002 a0001c0003t0003 a0001c0003t0015 a0001c0004t0002 a0001c0004t0003 a0001c0009t0002 a0001c0018t0002 a0001c0034t0002 a0002c0002t0002 a0002c0005t0002 a0004c0010t0002 a0004c0028t0002 a0004c0029t0002 a0005c0011t0002 a0005c0025t0002 a0007c0015t0014 a0008c0023t0003 a0011c0024t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 others(145): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0141 a0001c0001t0002g0165 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0003g0088 a0001c0001t0018g0308 a0001c0003t0002g0016 a0001c0003t0002g0019 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0029 a0001c0003t0002g0032 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0148 a0001c0003t0002g0150 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0207 a0001c0003t0002g0208 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0246 a0001c0003t0002g0250 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0003t0003g0007 a0001c0003t0003g0028 a0001c0003t0003g0133 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0197 a0001c0003t0003g0205 a0001c0003t0003g0206 a0001c0003t0003g0244 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0003t0015g0037 a0001c0004t0002g0147 a0001c0004t0002g0178 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0004t0002g0188 a0001c0004t0002g0189 a0001c0004t0002g0190 a0001c0004t0002g0191 a0001c0004t0002g0192 a0001c0004t0002g0217 a0001c0004t0002g0225 a0001c0004t0002g0228 a0001c0004t0002g0229 a0001c0004t0003g0218 a0001c0009t0002g0039 a0001c0018t0002g0173 a0001c0018t0002g0258 a0001c0034t0002g0061 a0002c0002t0002g0220 a0002c0002t0002g0236 a0002c0005t0002g0013 a0004c0010t0002g0009 a0004c0010t0002g0066 a0004c0010t0002g0067 a0004c0010t0002g0298 a0004c0028t0002g0156 a0004c0029t0002g0164 a0005c0011t0002g0053 a0005c0011t0002g0070 a0005c0011t0002g0084 a0005c0011t0002g0086 a0005c0025t0002g0125 a0007c0015t0014g0036 a0008c0023t0003g0256 a0008c0023t0003g0263 a0011c0024t0002g0051	171	378	0.4524	1	c.12 others(6): Show c.1278dupA		DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	16/16					chr18	TogoVar
DSC1_chr18_31124236_31167856	31129235	A A	ATTTTT ATTTTT	splice_region_variant splice_region_variant	LOW	HG01074.hp2 HG01167.hp1 HG01169.hp1 others(27): Show HG01074.hp2 HG01167.hp1 HG01169.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG02257.hp2 HG02486.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0003 a0006 a0010 a0003 a0006 a0010	a0003c0007 a0003c0014 a0003c0016 others(7): Show a0003c0007 a0003c0014 a0003c0016 a0003c0019 a0003c0020 a0003c0021 a0003c0022 a0003c0026 a0006c0012 a0010c0035	a0003c0007t0004 a0003c0007t0006 a0003c0014t0004 others(10): Show a0003c0007t0004 a0003c0007t0006 a0003c0014t0004 a0003c0016t0005 a0003c0019t0005 a0003c0020t0005 a0003c0020t0020 a0003c0021t0006 a0003c0022t0008 a0003c0026t0004 a0006c0012t0008 a0006c0012t0011 a0010c0035t0004	a0003c0007t0004g0043 a0003c0007t0004g0054 a0003c0007t0004g0071 others(26): Show a0003c0007t0004g0043 a0003c0007t0004g0054 a0003c0007t0004g0071 a0003c0007t0004g0080 a0003c0007t0004g0082 a0003c0007t0004g0090 a0003c0007t0006g0309 a0003c0007t0006g0310 a0003c0007t0006g0314 a0003c0007t0006g0315 a0003c0014t0004g0140 a0003c0014t0004g0142 a0003c0014t0004g0157 a0003c0016t0005g0041 a0003c0016t0005g0042 a0003c0016t0005g0115 a0003c0019t0005g0201 a0003c0019t0005g0255 a0003c0020t0005g0073 a0003c0020t0020g0313 a0003c0021t0006g0321 a0003c0021t0006g0323 a0003c0022t0008g0113 a0003c0022t0008g0114 a0003c0026t0004g0260 a0006c0012t0008g0079 a0006c0012t0011g0035 a0006c0012t0011g0311 a0010c0035t0004g0143	30	378	0.0794	5	c.12 others(16): Show c.1274_*1278dupAAAAA		DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	16/16					chr18	TogoVar
DSC1_chr18_31124236_31167856	31132569	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0012 a0012	a0012c0032 a0012c0032	a0012c0032t0009 a0012c0032t0009	a0012c0032t0009g0312 a0012c0032t0009g0312	1	378	0.0027	0	c.223 others(4): Show c.2237C>T	p.Thr others(6): Show p.Thr746Met	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	14/16	2499/4225	2237/2685	746/894		chr18	TogoVar
DSC1_chr18_31124236_31167856	31154775	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03139.hp1 HG03579.hp1 NA20129.hp2 HG03139.hp1 HG03579.hp1 NA20129.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0014 a0007c0015t0021 a0007c0015t0014 a0007c0015t0021	a0007c0015t0014g0036 a0007c0015t0021g0326 a0007c0015t0014g0036 a0007c0015t0021g0326	3	378	0.0079	0	c.626 others(3): Show c.626C>A	p.Ala others(6): Show p.Ala209Glu	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/16	888/4225	626/2685	209/894		chr18	TogoVar
DSC1_chr18_31124236_31167856	31156167	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03704.hp2 HG04204.hp1 HG03704.hp2 HG04204.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0053 a0005c0011t0002g0070 a0005c0011t0002g0053 a0005c0011t0002g0070	2	378	0.0053	0	c.352 others(5): Show c.352-5T>C		DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	3/15					chr18	TogoVar
DSC1_chr18_31124236_31167856	31159532	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01884.hp1 HG01891.hp1 others(22): Show HG01109.hp1 HG01884.hp1 HG01891.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp2 HG06807.hp1 NA18955.hp2 NA19075.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0012	a0001c0001 a0001c0004 a0001c0008 others(8): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0001c0030 a0001c0031 a0002c0002 a0003c0007 a0003c0020 a0006c0012 a0012c0032	a0001c0001t0013 a0001c0001t0018 a0001c0004t0001 others(10): Show a0001c0001t0013 a0001c0001t0018 a0001c0004t0001 a0001c0008t0001 a0001c0009t0001 a0001c0030t0009 a0001c0031t0009 a0002c0002t0001 a0003c0007t0006 a0003c0007t0019 a0003c0020t0020 a0006c0012t0011 a0012c0032t0009	a0001c0001t0013g0317 a0001c0001t0013g0318 a0001c0001t0018g0308 others(21): Show a0001c0001t0013g0317 a0001c0001t0013g0318 a0001c0001t0018g0308 a0001c0004t0001g0152 a0001c0008t0001g0044 a0001c0008t0001g0045 a0001c0008t0001g0046 a0001c0008t0001g0047 a0001c0008t0001g0048 a0001c0009t0001g0305 a0001c0009t0001g0306 a0001c0009t0001g0307 a0001c0030t0009g0319 a0001c0031t0009g0316 a0002c0002t0001g0153 a0003c0007t0006g0309 a0003c0007t0006g0310 a0003c0007t0006g0314 a0003c0007t0006g0315 a0003c0007t0019g0320 a0003c0020t0020g0313 a0006c0012t0011g0035 a0006c0012t0011g0311 a0012c0032t0009g0312	25	378	0.0661	1	c.64- others(5): Show c.64-4dupT		DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	1/15					chr18	TogoVar
DSC1_chr18_31124236_31167856	31159532	C C	CAA CAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(200): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0013 a0001c0018 a0002c0002 a0002c0006 a0003c0014 a0003c0019 a0003c0026 a0004c0028 a0004c0029 a0005c0025 a0008c0023 a0009c0017 a0010c0035	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 others(21): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0013t0001 a0001c0018t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0006t0001 a0003c0014t0004 a0003c0019t0005 a0003c0026t0004 a0004c0028t0002 a0004c0029t0002 a0005c0025t0002 a0008c0023t0003 a0009c0017t0001 a0010c0035t0004	a0001c0001t0002g0141 a0001c0001t0002g0165 a0001c0001t0002g0202 others(170): Show a0001c0001t0002g0141 a0001c0001t0002g0165 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0304 a0001c0003t0001g0020 a0001c0003t0001g0118 a0001c0003t0001g0124 a0001c0003t0001g0129 a0001c0003t0002g0016 a0001c0003t0002g0019 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0029 a0001c0003t0002g0032 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0207 a0001c0003t0002g0208 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0246 a0001c0003t0002g0250 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0003t0003g0007 a0001c0003t0003g0028 a0001c0003t0003g0133 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0197 a0001c0003t0003g0205 a0001c0003t0003g0206 a0001c0003t0003g0244 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0003t0007g0007 a0001c0003t0007g0245 a0001c0003t0015g0037 a0001c0004t0001g0026 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0174 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0179 a0001c0004t0001g0194 a0001c0004t0001g0210 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0215 a0001c0004t0001g0216 a0001c0004t0001g0234 a0001c0004t0001g0235 a0001c0004t0001g0237 a0001c0004t0001g0239 a0001c0004t0002g0147 a0001c0004t0002g0178 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0004t0002g0188 a0001c0004t0002g0189 a0001c0004t0002g0190 a0001c0004t0002g0191 a0001c0004t0002g0192 a0001c0004t0002g0217 a0001c0004t0002g0225 a0001c0004t0002g0228 a0001c0004t0002g0229 a0001c0004t0003g0218 a0001c0013t0001g0034 a0001c0013t0001g0302 a0001c0013t0001g0303 a0001c0018t0002g0173 a0001c0018t0002g0258 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0117 a0002c0002t0001g0123 a0002c0002t0001g0131 a0002c0002t0001g0139 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0169 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0001g0193 a0002c0002t0001g0204 a0002c0002t0001g0209 a0002c0002t0001g0214 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0264 a0002c0002t0002g0220 a0002c0002t0002g0236 a0002c0002t0012g0144 a0002c0006t0001g0018 a0002c0006t0001g0021 a0002c0006t0001g0116 a0002c0006t0001g0122 a0002c0006t0001g0128 a0002c0006t0001g0130 a0002c0006t0001g0132 a0002c0006t0001g0136 a0002c0006t0001g0137 a0002c0006t0001g0138 a0002c0006t0001g0251 a0002c0006t0001g0252 a0003c0014t0004g0140 a0003c0014t0004g0142 a0003c0014t0004g0157 a0003c0019t0005g0201 a0003c0019t0005g0255 a0003c0026t0004g0260 a0004c0028t0002g0156 a0004c0029t0002g0164 a0005c0025t0002g0125 a0008c0023t0003g0256 a0008c0023t0003g0263 a0009c0017t0001g0300 a0009c0017t0001g0301 a0010c0035t0004g0143	203	378	0.5370	2	c.64- others(11): Show c.64-5_64-4dupTT		DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	1/15					chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117532520	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00438.hp1 HG00438.hp2 HG00558.hp2 others(103): Show HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18994.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19063.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA20300.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0005 a0001c0007 a0001c0008 others(43): Show a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0035 a0001c0036 a0001c0037 a0001c0039 a0001c0042 a0001c0043 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0003c0038 a0003c0040 a0003c0041 a0003c0044 a0005c0031	a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 others(72): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0008t0004 a0001c0009t0001 a0001c0009t0002 a0001c0009t0003 a0001c0011t0002 a0001c0011t0003 a0001c0011t0004 a0001c0012t0001 a0001c0012t0002 a0001c0012t0003 a0001c0013t0001 a0001c0013t0003 a0001c0013t0004 a0001c0014t0001 a0001c0014t0003 a0001c0014t0004 a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 a0001c0016t0001 a0001c0016t0002 a0001c0017t0001 a0001c0017t0003 a0001c0017t0004 a0001c0018t0001 a0001c0018t0002 a0001c0020t0001 a0001c0020t0003 a0001c0021t0003 a0001c0022t0001 a0001c0022t0002 a0001c0023t0001 a0001c0024t0002 a0001c0024t0003 a0001c0025t0003 a0001c0025t0004 a0001c0026t0001 a0001c0026t0004 a0001c0027t0001 a0001c0028t0001 a0001c0028t0004 a0001c0029t0002 a0001c0030t0003 a0001c0030t0004 a0001c0035t0003 a0001c0036t0003 a0001c0037t0001 a0001c0039t0001 a0001c0042t0003 a0001c0043t0003 a0001c0045t0006 a0001c0046t0001 a0001c0047t0002 a0001c0048t0001 a0001c0049t0004 a0001c0050t0001 a0001c0051t0002 a0001c0052t0001 a0001c0053t0001 a0001c0054t0002 a0001c0055t0001 a0001c0056t0001 a0003c0038t0004 a0003c0040t0002 a0003c0041t0001 a0003c0044t0002 a0005c0031t0001 a0005c0031t0002	a0001c0005t0001g0084 a0001c0005t0001g0096 a0001c0005t0001g0099 others(103): Show a0001c0005t0001g0084 a0001c0005t0001g0096 a0001c0005t0001g0099 a0001c0005t0001g0190 a0001c0005t0002g0144 a0001c0005t0003g0046 a0001c0005t0003g0080 a0001c0005t0004g0023 a0001c0005t0004g0085 a0001c0007t0001g0092 a0001c0007t0001g0111 a0001c0007t0001g0112 a0001c0007t0001g0136 a0001c0007t0001g0138 a0001c0007t0001g0158 a0001c0007t0002g0140 a0001c0008t0001g0102 a0001c0008t0001g0114 a0001c0008t0001g0118 a0001c0008t0001g0137 a0001c0008t0001g0167 a0001c0008t0004g0100 a0001c0009t0001g0068 a0001c0009t0001g0069 a0001c0009t0002g0019 a0001c0009t0002g0160 a0001c0009t0002g0180 a0001c0009t0003g0157 a0001c0011t0002g0007 a0001c0011t0002g0026 a0001c0011t0002g0174 a0001c0011t0003g0050 a0001c0011t0004g0064 a0001c0012t0001g0043 a0001c0012t0002g0060 a0001c0012t0002g0061 a0001c0012t0003g0094 a0001c0012t0003g0095 a0001c0013t0001g0065 a0001c0013t0003g0055 a0001c0013t0003g0110 a0001c0013t0003g0181 a0001c0013t0004g0177 a0001c0014t0001g0071 a0001c0014t0001g0132 a0001c0014t0003g0178 a0001c0014t0004g0090 a0001c0014t0004g0143 a0001c0015t0001g0031 a0001c0015t0002g0038 a0001c0015t0005g0008 a0001c0016t0001g0044 a0001c0016t0001g0078 a0001c0016t0002g0147 a0001c0017t0001g0142 a0001c0017t0003g0054 a0001c0017t0004g0009 a0001c0018t0001g0098 a0001c0018t0002g0087 a0001c0018t0002g0134 a0001c0020t0001g0027 a0001c0020t0003g0021 a0001c0021t0003g0141 a0001c0021t0003g0145 a0001c0022t0001g0135 a0001c0022t0002g0176 a0001c0023t0001g0032 a0001c0023t0001g0062 a0001c0024t0002g0036 a0001c0024t0003g0073 a0001c0025t0003g0192 a0001c0025t0004g0053 a0001c0026t0001g0003 a0001c0026t0004g0051 a0001c0027t0001g0012 a0001c0027t0001g0122 a0001c0028t0001g0067 a0001c0028t0004g0006 a0001c0029t0002g0029 a0001c0029t0002g0103 a0001c0030t0003g0183 a0001c0030t0004g0133 a0001c0035t0003g0170 a0001c0036t0003g0063 a0001c0037t0001g0124 a0001c0039t0001g0155 a0001c0042t0003g0127 a0001c0043t0003g0184 a0001c0045t0006g0152 a0001c0046t0001g0131 a0001c0047t0002g0057 a0001c0048t0001g0025 a0001c0049t0004g0049 a0001c0050t0001g0022 a0001c0051t0002g0010 a0001c0052t0001g0123 a0001c0053t0001g0024 a0001c0054t0002g0173 a0001c0055t0001g0105 a0001c0056t0001g0075 a0003c0038t0004g0129 a0003c0040t0002g0014 a0003c0041t0001g0097 a0003c0044t0002g0030 a0005c0031t0001g0101 a0005c0031t0002g0045	106	194	0.5464	0	c.514 others(3): Show c.514C>A	p.His others(6): Show p.His172Asn	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	4/33	651/6855	514/6162	172/2053		chr11	TogoVar
DSCC1_chr8_119828976_119860894	119838260	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02965.hp2 HG02965.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0201 a0005c0005t0003g0201	1	378	0.0027	0	c.107 others(4): Show c.1072C>T	p.Gln others(4): Show p.Gln358*	DSCC1	ENSG00000136982.6	transcript	ENST00000313655.5	protein_coding	8/9	1171/2198	1072/1182	358/393		chr8	TogoVar
DSCC1_chr8_119828976_119860894	119846992	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18997.hp2 NA18997.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0061 a0004c0004t0001g0061	1	378	0.0027	0	c.575 others(3): Show c.575G>A	p.Gly others(6): Show p.Gly192Glu	DSCC1	ENSG00000136982.6	transcript	ENST00000313655.5	protein_coding	4/9	674/2198	575/1182	192/393		chr8	TogoVar
DSE_chr6_116365947_116449861	116431201	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0015 a0005c0006t0015	a0005c0006t0015g0247 a0005c0006t0015g0247	1	366	0.0027	0	c.910 others(5): Show c.910+8G>A		DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	4/5					chr6	TogoVar
DSG1_chr18_31313160_31364246	31346196	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0029 a0029	a0029c0029 a0029c0029	a0029c0029t0001 a0029c0029t0001	a0029c0029t0001g0148 a0029c0029t0001g0148	1	302	0.0033	0	c.209 others(4): Show c.2098C>A	p.Gln others(6): Show p.Gln700Lys	DSG1	ENSG00000134760.6	transcript	ENST00000257192.5	protein_coding	14/15	2239/7191	2098/3150	700/1049		chr18	TogoVar
DSG2_chr18_31493177_31554008	31520798	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp1 HG03225.hp1 HG03209.hp1 HG03225.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0012 a0006c0013t0012	a0006c0013t0012g0029 a0006c0013t0012g0029	2	354	0.0057	0	c.217 others(5): Show c.217-5G>T		DSG2	ENSG00000046604.14	transcript	ENST00000261590.13	protein_coding	3/14					chr18	TogoVar
DSG3_chr18_31442741_31483702	31472794	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0173 a0001c0001t0018g0173	1	346	0.0029	0	c.210 others(6): Show c.2101+6T>G		DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	14/15					chr18	TogoVar
DSN1_chr20_36746795_36778763	36771481	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG02055.hp1 HG02145.hp1 others(5): Show HG00642.hp2 HG02055.hp1 HG02145.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03453.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0004 a0001c0001t0005 a0002c0003t0004	a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 others(5): Show a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0002c0003t0004g0054 a0002c0003t0004g0055 a0002c0003t0004g0056	8	332	0.0241	0	c.-15 others(5): Show c.-15-8A>G		DSN1	ENSG00000149636.16	transcript	ENST00000373750.9	protein_coding	1/10					chr20	TogoVar
DSPP_chr4_87603529_87621873	87608627	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	450	0.0022	0	c.-29 others(5): Show c.-29+7T>C		DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	1/4					chr4	TogoVar
DSP_chr6_7536671_7591714	7567912	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0042 a0001c0004t0001g0042	1	396	0.0025	0	c.126 others(6): Show c.1266+6G>T		DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	10/23					chr6	TogoVar
DSP_chr6_7536671_7591714	7571591	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01361.hp2 HG02145.hp2 HG02486.hp1 others(5): Show HG01361.hp2 HG02145.hp2 HG02486.hp1 HG02809.hp2 HG02965.hp2 HG03139.hp1 HG03471.hp2 NA18906.hp1	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0024 a0004c0020 a0009c0029 a0002c0024 a0004c0020 a0009c0029	a0002c0024t0001 a0004c0020t0002 a0009c0029t0001 a0002c0024t0001 a0004c0020t0002 a0009c0029t0001	a0002c0024t0001g0060 a0002c0024t0001g0357 a0004c0020t0002g0009 others(4): Show a0002c0024t0001g0060 a0002c0024t0001g0357 a0004c0020t0002g0009 a0004c0020t0002g0061 a0004c0020t0002g0062 a0009c0029t0001g0226 a0009c0029t0001g0227	8	396	0.0202	0	c.190 others(6): Show c.1903+7T>C		DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	14/23					chr6	TogoVar
DSP_chr6_7536671_7591714	7576294	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(296): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.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 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.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.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(23): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0016 a0017 a0020 a0021 a0022 a0024 a0025 a0027 a0028 a0029 a0033 a0034 a0036 a0037 a0038	a0001c0001 a0001c0004 a0001c0007 others(52): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0017 a0001c0022 a0001c0023 a0001c0033 a0001c0035 a0001c0041 a0001c0049 a0001c0050 a0001c0053 a0001c0059 a0001c0063 a0001c0072 a0001c0074 a0002c0002 a0002c0003 a0002c0018 a0002c0024 a0002c0030 a0002c0054 a0005c0008 a0006c0016 a0006c0042 a0007c0027 a0007c0058 a0008c0019 a0009c0029 a0009c0062 a0009c0069 a0010c0021 a0011c0026 a0013c0034 a0014c0036 a0016c0039 a0016c0052 a0017c0047 a0020c0060 a0021c0046 a0022c0057 a0024c0070 a0025c0071 a0027c0076 a0028c0043 a0029c0075 a0033c0073 a0034c0037 a0036c0077 a0037c0078 a0038c0082	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(54): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0010t0001 a0001c0010t0004 a0001c0011t0001 a0001c0014t0001 a0001c0015t0002 a0001c0017t0002 a0001c0022t0001 a0001c0023t0001 a0001c0033t0001 a0001c0035t0001 a0001c0041t0001 a0001c0049t0001 a0001c0050t0001 a0001c0053t0001 a0001c0059t0001 a0001c0063t0001 a0001c0072t0001 a0001c0074t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0018t0001 a0002c0024t0001 a0002c0030t0001 a0002c0054t0001 a0005c0008t0001 a0006c0016t0001 a0006c0042t0001 a0007c0027t0001 a0007c0058t0001 a0008c0019t0001 a0009c0029t0001 a0009c0062t0001 a0009c0069t0001 a0010c0021t0001 a0011c0026t0001 a0013c0034t0001 a0014c0036t0001 a0016c0039t0001 a0016c0052t0001 a0017c0047t0001 a0020c0060t0001 a0021c0046t0001 a0022c0057t0001 a0024c0070t0001 a0025c0071t0001 a0027c0076t0001 a0028c0043t0001 a0029c0075t0001 a0033c0073t0001 a0034c0037t0002 a0036c0077t0001 a0037c0078t0001 a0038c0082t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(284): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0341 a0001c0001t0001g0349 a0001c0004t0001g0026 a0001c0004t0001g0035 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0053 a0001c0004t0001g0098 a0001c0004t0001g0111 a0001c0004t0001g0129 a0001c0004t0001g0136 a0001c0004t0001g0154 a0001c0004t0001g0186 a0001c0004t0001g0200 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0222 a0001c0004t0001g0228 a0001c0004t0001g0230 a0001c0004t0001g0231 a0001c0004t0001g0245 a0001c0004t0001g0285 a0001c0004t0001g0320 a0001c0004t0001g0324 a0001c0004t0001g0327 a0001c0004t0001g0328 a0001c0004t0001g0329 a0001c0004t0001g0333 a0001c0004t0001g0348 a0001c0004t0001g0365 a0001c0004t0001g0378 a0001c0007t0001g0046 a0001c0007t0001g0049 a0001c0007t0001g0162 a0001c0007t0001g0180 a0001c0007t0001g0217 a0001c0007t0001g0259 a0001c0007t0001g0263 a0001c0007t0001g0267 a0001c0007t0001g0270 a0001c0007t0001g0287 a0001c0007t0001g0314 a0001c0007t0001g0316 a0001c0010t0001g0080 a0001c0010t0001g0097 a0001c0010t0001g0104 a0001c0010t0001g0190 a0001c0010t0001g0336 a0001c0010t0001g0352 a0001c0010t0001g0372 a0001c0010t0001g0374 a0001c0010t0004g0078 a0001c0011t0001g0161 a0001c0011t0001g0236 a0001c0011t0001g0250 a0001c0011t0001g0262 a0001c0011t0001g0264 a0001c0011t0001g0272 a0001c0011t0001g0307 a0001c0011t0001g0313 a0001c0014t0001g0249 a0001c0014t0001g0256 a0001c0014t0001g0258 a0001c0014t0001g0274 a0001c0014t0001g0276 a0001c0015t0002g0069 a0001c0015t0002g0076 a0001c0015t0002g0232 a0001c0015t0002g0337 a0001c0015t0002g0358 a0001c0017t0002g0103 a0001c0017t0002g0108 a0001c0017t0002g0109 a0001c0017t0002g0114 a0001c0017t0002g0168 a0001c0022t0001g0219 a0001c0022t0001g0221 a0001c0022t0001g0342 a0001c0023t0001g0025 a0001c0023t0001g0077 a0001c0023t0001g0107 a0001c0033t0001g0015 a0001c0035t0001g0139 a0001c0035t0001g0144 a0001c0041t0001g0319 a0001c0049t0001g0335 a0001c0050t0001g0028 a0001c0053t0001g0016 a0001c0059t0001g0116 a0001c0063t0001g0010 a0001c0072t0001g0133 a0001c0074t0001g0207 a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0093 a0002c0002t0001g0117 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0125 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0165 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0215 a0002c0002t0001g0225 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0253 a0002c0002t0001g0277 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0360 a0002c0002t0001g0368 a0002c0002t0002g0224 a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0130 a0002c0003t0001g0170 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0260 a0002c0003t0001g0268 a0002c0003t0001g0271 a0002c0003t0001g0284 a0002c0003t0001g0286 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0312 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0321 a0002c0003t0001g0330 a0002c0003t0001g0371 a0002c0003t0001g0375 a0002c0003t0001g0376 a0002c0018t0001g0261 a0002c0018t0001g0266 a0002c0018t0001g0289 a0002c0018t0001g0306 a0002c0024t0001g0060 a0002c0024t0001g0068 a0002c0024t0001g0357 a0002c0030t0001g0073 a0002c0030t0001g0298 a0002c0054t0001g0311 a0005c0008t0001g0014 a0005c0008t0001g0038 a0005c0008t0001g0293 a0005c0008t0001g0295 a0005c0008t0001g0296 a0005c0008t0001g0299 a0005c0008t0001g0303 a0005c0008t0001g0304 a0005c0008t0001g0305 a0005c0008t0001g0310 a0006c0016t0001g0007 a0006c0016t0001g0052 a0006c0016t0001g0055 a0006c0016t0001g0058 a0006c0042t0001g0251 a0007c0027t0001g0197 a0007c0027t0001g0238 a0007c0027t0001g0254 a0007c0058t0001g0255 a0008c0019t0001g0278 a0008c0019t0001g0297 a0008c0019t0001g0309 a0008c0019t0001g0377 a0009c0029t0001g0226 a0009c0029t0001g0227 a0009c0062t0001g0204 a0009c0069t0001g0361 a0010c0021t0001g0148 a0010c0021t0001g0149 a0010c0021t0001g0152 a0011c0026t0001g0020 a0011c0026t0001g0022 a0011c0026t0001g0369 a0013c0034t0001g0010 a0013c0034t0001g0075 a0014c0036t0001g0151 a0014c0036t0001g0153 a0016c0039t0001g0323 a0016c0052t0001g0024 a0017c0047t0001g0030 a0020c0060t0001g0363 a0021c0046t0001g0300 a0022c0057t0001g0343 a0024c0070t0001g0072 a0025c0071t0001g0163 a0027c0076t0001g0338 a0028c0043t0001g0273 a0029c0075t0001g0127 a0033c0073t0001g0176 a0034c0037t0002g0315 a0036c0077t0001g0132 a0037c0078t0001g0242 a0038c0082t0001g0370	299	396	0.7551	0	c.263 others(4): Show c.2631G>A	p.Arg others(6): Show p.Arg877Arg	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	19/24	2876/9697	2631/8616	877/2871		chr6	TogoVar
DSP_chr6_7536671_7591714	7578458	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0322 a0004c0012t0002g0322	1	396	0.0025	0	c.298 others(6): Show c.2986-6T>A		DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	21/23					chr6	TogoVar

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