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	status	chr	external
CLIP3_chr19_36009660_36037873	36026753	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(190): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0012 a0001c0013 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0002t0006 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0012t0003 a0001c0013t0001 a0002c0006t0004 a0002c0006t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(127): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0004g0135 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0213 a0001c0001t0005g0106 a0001c0001t0006g0039 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0203 a0001c0001t0006g0222 a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0010g0146 a0001c0001t0010g0147 a0001c0001t0011g0062 a0001c0001t0014g0163 a0001c0002t0006g0136 a0001c0002t0006g0141 a0001c0002t0006g0148 a0001c0002t0006g0150 a0001c0004t0001g0202 a0001c0004t0003g0068 a0001c0005t0001g0040 a0001c0012t0003g0050 a0001c0013t0001g0269 a0002c0006t0004g0155 a0002c0006t0006g0154	193	416	0.4639	0	c.401 others(5): Show c.401-6G>A		CLIP3	ENSG00000105270.15	transcript	ENST00000360535.9	protein_coding	4/13					chr19	TogoVar
CLIP4_chr2_29110415_29188808	29160475	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	292	0.0034	0	c.153 others(6): Show c.1534+8A>G		CLIP4	ENSG00000115295.21	transcript	ENST00000320081.10	protein_coding	12/15					chr2	TogoVar
CLK1_chr2_200848009_200869658	200853455	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	418	0.0024	0	c.131 others(6): Show c.1312-6T>C		CLK1	ENSG00000013441.17	transcript	ENST00000321356.9	protein_coding	12/12					chr2	TogoVar
CLK1_chr2_200848009_200869658	200858089	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0179 a0001c0003t0001g0179	1	418	0.0024	0	c.549 others(3): Show c.549G>A	p.Ala others(6): Show p.Ala183Ala	CLK1	ENSG00000013441.17	transcript	ENST00000321356.9	protein_coding	6/13	644/1847	549/1455	183/484		chr2	TogoVar
CLK2_chr1_155257868_155278504	155264462	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18947.hp2 NA18949.hp1 NA18952.hp1 others(3): Show NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18955.hp1 NA18990.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	6	331	0.0181	0	c.114 others(6): Show c.1146+6T>C		CLK2	ENSG00000176444.19	transcript	ENST00000368361.9	protein_coding	10/12					chr1	TogoVar
CLK2_chr1_155257868_155278504	155268130	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	331	0.0030	0	c.555 others(5): Show c.555-4A>G		CLK2	ENSG00000176444.19	transcript	ENST00000368361.9	protein_coding	5/12					chr1	TogoVar
CLK2_chr1_155257868_155278504	155268289	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	331	0.0030	0	c.554 others(5): Show c.554+4A>C		CLK2	ENSG00000176444.19	transcript	ENST00000368361.9	protein_coding	5/12					chr1	TogoVar
CLK3_chr15_74610836_74635201	74622567	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	354	0.0028	0	c.533 others(5): Show c.533+7G>A		CLK3	ENSG00000179335.20	transcript	ENST00000395066.9	protein_coding	5/12					chr15	TogoVar
CLK3_chr15_74610836_74635201	74625787	ATCC ATCC	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00735.hp1 HG02257.hp2 others(7): Show HG00140.hp2 HG00735.hp1 HG02257.hp2 HG02559.hp2 HG02818.hp2 HG02895.hp1 HG02976.hp2 HG03130.hp2 HG03486.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	10	354	0.0283	-3	c.651 others(14): Show c.651-5_651-3delTCC		CLK3	ENSG00000179335.20	transcript	ENST00000395066.9	protein_coding	6/12				INFO_REALIGN_3_PRIME	chr15	TogoVar
CLK3_chr15_74610836_74635201	74627972	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0048 a0001c0006t0001g0048	1	354	0.0028	0	c.104 others(4): Show c.1045C>T	p.Leu others(6): Show p.Leu349Leu	CLK3	ENSG00000179335.20	transcript	ENST00000395066.9	protein_coding	10/13	1108/1854	1045/1473	349/490		chr15	TogoVar
CLK3_chr15_74610836_74635201	74629709	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0002 a0001c0005t0001g0002	1	354	0.0028	0	c.129 others(4): Show c.1299T>C	p.Ser others(6): Show p.Ser433Ser	CLK3	ENSG00000179335.20	transcript	ENST00000395066.9	protein_coding	13/13	1362/1854	1299/1473	433/490		chr15	TogoVar
CLK4_chr5_178597664_178632050	178603940	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18975.hp1 NA18982.hp1 NA19056.hp1 others(4): Show NA18975.hp1 NA18982.hp1 NA19056.hp1 NA19065.hp1 NA19067.hp1 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0098	7	384	0.0182	-1	c.121 others(7): Show c.1215-7delT		CLK4	ENSG00000113240.14	transcript	ENST00000316308.9	protein_coding	11/12					chr5	TogoVar
CLK4_chr5_178597664_178632050	178623258	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0055	1	384	0.0026	0	c.159 others(3): Show c.159T>C	p.Asp others(5): Show p.Asp53Asp	CLK4	ENSG00000113240.14	transcript	ENST00000316308.9	protein_coding	2/13	264/2504	159/1446	53/481		chr5	TogoVar
CLMN_chr14_95176940_95324908	95204467	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00438.hp1 HG00558.hp1 others(104): Show HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19030.hp2 NA19043.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0002c0010 a0003c0007 a0003c0009 a0004c0006 a0005c0014 a0006c0015 a0008c0017 a0009c0019 a0010c0011 a0012c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(49): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0037 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0061 a0001c0001t0062 a0001c0001t0069 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0056 a0001c0002t0060 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0013 a0001c0003t0014 a0001c0003t0023 a0001c0003t0024 a0001c0003t0063 a0001c0005t0002 a0001c0005t0013 a0001c0005t0014 a0001c0005t0023 a0002c0004t0008 a0002c0004t0025 a0002c0004t0028 a0002c0004t0067 a0002c0010t0008 a0003c0007t0008 a0003c0007t0020 a0003c0007t0043 a0003c0009t0008 a0003c0009t0021 a0004c0006t0010 a0004c0006t0036 a0005c0014t0002 a0006c0015t0011 a0008c0017t0001 a0009c0019t0048 a0010c0011t0001 a0012c0016t0002	a0001c0001t0001g0056 a0001c0001t0001g0171 a0001c0001t0001g0212 others(102): Show a0001c0001t0001g0056 a0001c0001t0001g0171 a0001c0001t0001g0212 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0003g0054 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0003g0147 a0001c0001t0003g0164 a0001c0001t0003g0204 a0001c0001t0003g0227 a0001c0001t0005g0170 a0001c0001t0009g0057 a0001c0001t0009g0059 a0001c0001t0009g0066 a0001c0001t0009g0156 a0001c0001t0009g0191 a0001c0001t0009g0244 a0001c0001t0015g0100 a0001c0001t0015g0160 a0001c0001t0015g0260 a0001c0001t0017g0235 a0001c0001t0018g0003 a0001c0001t0037g0071 a0001c0001t0046g0190 a0001c0001t0051g0245 a0001c0001t0052g0141 a0001c0001t0055g0183 a0001c0001t0061g0074 a0001c0001t0062g0072 a0001c0001t0069g0132 a0001c0002t0001g0009 a0001c0002t0001g0042 a0001c0002t0003g0018 a0001c0002t0003g0023 a0001c0002t0004g0022 a0001c0002t0009g0045 a0001c0002t0009g0047 a0001c0002t0056g0029 a0001c0002t0060g0044 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0115 a0001c0003t0002g0154 a0001c0003t0002g0167 a0001c0003t0002g0172 a0001c0003t0002g0179 a0001c0003t0002g0203 a0001c0003t0002g0206 a0001c0003t0002g0217 a0001c0003t0002g0223 a0001c0003t0002g0231 a0001c0003t0002g0264 a0001c0003t0005g0104 a0001c0003t0005g0120 a0001c0003t0005g0122 a0001c0003t0005g0193 a0001c0003t0006g0254 a0001c0003t0007g0202 a0001c0003t0013g0081 a0001c0003t0013g0082 a0001c0003t0013g0152 a0001c0003t0014g0073 a0001c0003t0014g0075 a0001c0003t0023g0213 a0001c0003t0024g0105 a0001c0003t0024g0106 a0001c0003t0063g0079 a0001c0005t0002g0013 a0001c0005t0002g0030 a0001c0005t0002g0034 a0001c0005t0002g0037 a0001c0005t0013g0004 a0001c0005t0014g0005 a0001c0005t0023g0017 a0002c0004t0008g0053 a0002c0004t0008g0125 a0002c0004t0008g0126 a0002c0004t0008g0127 a0002c0004t0008g0157 a0002c0004t0025g0109 a0002c0004t0025g0110 a0002c0004t0028g0052 a0002c0004t0067g0246 a0002c0010t0008g0129 a0002c0010t0008g0130 a0003c0007t0008g0049 a0003c0007t0020g0002 a0003c0007t0043g0048 a0003c0009t0008g0272 a0003c0009t0021g0174 a0003c0009t0021g0271 a0004c0006t0010g0060 a0004c0006t0010g0061 a0004c0006t0010g0062 a0004c0006t0010g0064 a0004c0006t0010g0117 a0004c0006t0036g0058 a0005c0014t0002g0162 a0006c0015t0011g0265 a0008c0017t0001g0139 a0009c0019t0048g0078 a0010c0011t0001g0043 a0012c0016t0002g0187	107	276	0.3877	1	c.886 others(6): Show c.886-5dupT		CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	8/12					chr14	TogoVar
CLMN_chr14_95176940_95324908	95221688	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0021 a0001c0002t0050g0021	1	276	0.0036	0	c.324 others(5): Show c.324+3A>G		CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	4/12					chr14	TogoVar
CLN3_chr16_28472279_28497074	28486653	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	360	0.0028	0	c.461 others(5): Show c.461-3C>A		CLN3	ENSG00000188603.22	transcript	ENST00000636147.2	protein_coding	7/15					chr16	TogoVar
CLN3_chr16_28472279_28497074	28487541	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0079 a0001c0009t0001g0079	1	360	0.0028	0	c.375 others(3): Show c.375C>T	p.Ser others(6): Show p.Ser125Ser	CLN3	ENSG00000188603.22	transcript	ENST00000636147.2	protein_coding	7/16	506/1685	375/1317	125/438		chr16	TogoVar
CLN5_chr13_76987081_77010117	76992279	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00438.hp2 HG01255.hp2 others(43): Show HG00099.hp1 HG00438.hp2 HG01255.hp2 HG01257.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02630.hp1 HG04115.hp2 HG04228.hp1 NA18942.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18982.hp1 NA18983.hp2 NA18990.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19006.hp2 NA19007.hp2 NA19066.hp1 NA19072.hp2 NA19077.hp1 NA19083.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA20905.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0038 a0002c0002t0039 others(2): Show a0002c0002t0002 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0002t0041	a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0025 others(5): Show a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0025 a0002c0002t0002g0031 a0002c0002t0038g0068 a0002c0002t0039g0067 a0002c0002t0040g0005 a0002c0002t0041g0005	46	430	0.1070	0	c.173 others(5): Show c.173+8C>T		CLN5	ENSG00000102805.16	transcript	ENST00000377453.9	protein_coding	1/3					chr13	TogoVar
CLN6_chr15_68201992_68234728	68211326	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0043 a0001c0002t0008g0043	1	324	0.0031	0	c.487 others(5): Show c.487-8T>C		CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding	4/6					chr15	TogoVar
CLN6_chr15_68201992_68234728	68211667	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	324	0.0062	0	c.486 others(5): Show c.486+8C>T		CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding	4/6					chr15	TogoVar
CLN6_chr15_68201992_68234728	68211869	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 NA18612.hp1 NA18972.hp1 others(4): Show HG00438.hp2 NA18612.hp1 NA18972.hp1 NA18982.hp2 NA18999.hp2 NA19010.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0045 a0001c0001t0007g0048 a0001c0001t0007g0006 a0001c0001t0007g0045 a0001c0001t0007g0048	7	324	0.0216	0	c.298 others(5): Show c.298-6C>T		CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding	3/6					chr15	TogoVar
CLN8_chr8_1758789_1791570	1763883	C C	T T	splice_region_variant splice_region_variant	LOW	HG00558.hp1 HG00597.hp2 HG00673.hp2 others(47): Show HG00558.hp1 HG00597.hp2 HG00673.hp2 HG00741.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG02056.hp1 HG02132.hp2 HG02155.hp1 HG02683.hp1 HG02735.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18988.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19077.hp1 NA19084.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0006 a0006c0008 others(1): Show a0001c0001 a0001c0006 a0006c0008 a0007c0005	a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 others(15): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0006t0112 a0006c0008t0111 a0007c0005t0037	a0001c0001t0005g0003 a0001c0001t0005g0031 a0001c0001t0005g0032 others(29): Show a0001c0001t0005g0003 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0060 a0001c0001t0005g0073 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0082 a0001c0001t0005g0105 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0129 a0001c0001t0006g0003 a0001c0001t0006g0021 a0001c0001t0017g0003 a0001c0001t0017g0015 a0001c0001t0036g0003 a0001c0001t0037g0003 a0001c0001t0038g0015 a0001c0001t0038g0081 a0001c0001t0108g0119 a0001c0001t0109g0059 a0001c0001t0110g0003 a0001c0001t0113g0096 a0001c0001t0114g0021 a0001c0001t0115g0032 a0001c0001t0116g0003 a0001c0001t0117g0031 a0001c0001t0118g0003 a0001c0006t0112g0003 a0006c0008t0111g0021 a0007c0005t0037g0015	50	413	0.1211	0	c.-12 others(4): Show c.-126C>T		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding	1/3					chr8	TogoVar
CLN8_chr8_1758789_1791570	1770928	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 NA19030.hp1 NA21309.hp2 HG02257.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0130 a0001c0001t0001g0049 a0001c0001t0001g0130	3	413	0.0073	0	c.-12 others(6): Show c.-123-4T>C		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding	1/2					chr8	TogoVar
CLNK_chr4_10481395_10689768	10490620	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp2 HG02922.hp2 HG03540.hp1 others(4): Show HG02818.hp2 HG02922.hp2 HG03540.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0011 a0001c0001 a0002c0002 a0006c0011	a0001c0001t0016 a0001c0001t0036 a0002c0002t0031 others(1): Show a0001c0001t0016 a0001c0001t0036 a0002c0002t0031 a0006c0011t0031	a0001c0001t0016g0043 a0001c0001t0016g0103 a0001c0001t0016g0187 others(4): Show a0001c0001t0016g0043 a0001c0001t0016g0103 a0001c0001t0016g0187 a0001c0001t0016g0279 a0001c0001t0036g0193 a0002c0002t0031g0318 a0006c0011t0031g0199	7	320	0.0219	0	c.114 others(6): Show c.1141-7G>A		CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	18/18					chr4	TogoVar
CLNK_chr4_10481395_10689768	10571786	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 HG00639.hp2 HG00733.hp1 others(48): Show HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01358.hp1 HG01515.hp2 HG01981.hp2 HG02040.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02735.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03669.hp2 HG03710.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18948.hp1 NA18964.hp2 NA18966.hp1 NA18985.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19065.hp2 NA19088.hp1 NA20300.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0060 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0072 a0001c0001t0074 a0008c0013t0001	a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0294 others(48): Show a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0294 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0002g0088 a0001c0001t0002g0147 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0277 a0001c0001t0003g0191 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0004g0050 a0001c0001t0004g0068 a0001c0001t0004g0161 a0001c0001t0006g0148 a0001c0001t0006g0176 a0001c0001t0006g0178 a0001c0001t0008g0315 a0001c0001t0009g0150 a0001c0001t0009g0155 a0001c0001t0010g0269 a0001c0001t0011g0020 a0001c0001t0014g0180 a0001c0001t0015g0160 a0001c0001t0015g0179 a0001c0001t0016g0043 a0001c0001t0016g0279 a0001c0001t0019g0151 a0001c0001t0023g0153 a0001c0001t0023g0195 a0001c0001t0028g0219 a0001c0001t0032g0100 a0001c0001t0032g0295 a0001c0001t0034g0001 a0001c0001t0035g0194 a0001c0001t0036g0193 a0001c0001t0040g0234 a0001c0001t0042g0305 a0001c0001t0045g0197 a0001c0001t0060g0071 a0001c0001t0065g0019 a0001c0001t0067g0118 a0001c0001t0069g0152 a0001c0001t0072g0177 a0001c0001t0074g0169 a0008c0013t0001g0280	51	320	0.1594	0	c.113 others(5): Show c.113-8G>T		CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	4/18					chr4	TogoVar
CLNS1A_chr11_77609530_77642794	77619702	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp2 HG01081.hp1 others(14): Show HG00280.hp1 HG00323.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01243.hp1 HG01358.hp1 HG01934.hp2 HG01993.hp1 HG02109.hp2 HG02293.hp2 HG03239.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(11): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0216	17	408	0.0417	0	c.647 others(5): Show c.647-7T>G		CLNS1A	ENSG00000074201.9	transcript	ENST00000525428.6	protein_coding	5/6					chr11	TogoVar
CLPSL2_chr6_35771598_35784552	35777585	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02895.hp2 HG02976.hp2 others(1): Show HG02572.hp1 HG02895.hp2 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	4	460	0.0087	0	c.207 others(5): Show c.207+4A>G		CLPSL2	ENSG00000196748.10	transcript	ENST00000403376.4	protein_coding	2/2					chr6	TogoVar
CLPSL2_chr6_35771598_35784552	35779356	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0015 a0004c0004t0001g0015	1	460	0.0022	0	c.209 others(3): Show c.209C>A	p.Thr others(5): Show p.Thr70Asn	CLPSL2	ENSG00000196748.10	transcript	ENST00000403376.4	protein_coding	3/3	230/426	209/303	70/100		chr6	TogoVar
CLPS_chr6_35789982_35802323	35795275	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03688.hp2 HG03688.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0023 a0004c0006t0001g0023	1	418	0.0024	0	c.210 others(3): Show c.210G>A	p.Thr others(5): Show p.Thr70Thr	CLPS	ENSG00000137392.10	transcript	ENST00000259938.7	protein_coding	3/3	245/538	210/339	70/112		chr6	TogoVar
CLPS_chr6_35789982_35802323	35795280	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp2 HG03688.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0023 a0004c0006t0001g0023	1	418	0.0024	0	c.208 others(5): Show c.208-3C>A		CLPS	ENSG00000137392.10	transcript	ENST00000259938.7	protein_coding	2/2					chr6	TogoVar
CLPS_chr6_35789982_35802323	35795285	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp2 HG03688.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0023 a0004c0006t0001g0023	1	418	0.0024	0	c.208 others(5): Show c.208-8C>G		CLPS	ENSG00000137392.10	transcript	ENST00000259938.7	protein_coding	2/2					chr6	TogoVar
CLPTM1L_chr5_1312752_1350099	1321758	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(39): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG02055.hp2 HG02257.hp1 HG02273.hp1 HG02559.hp2 HG02630.hp1 HG02818.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG04199.hp1 NA18961.hp1 NA18994.hp1 NA19056.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 a0001c0001t0001 a0001c0001t0002 a0001c0009t0002	a0001c0001t0001g0022 a0001c0001t0002g0002 a0001c0001t0002g0003 others(32): Show a0001c0001t0001g0022 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0125 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0009t0002g0270	42	370	0.1135	0	c.137 others(6): Show c.1371+6G>A		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	14/16					chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1322878	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0162 a0001c0008t0001g0162	1	370	0.0027	0	c.131 others(4): Show c.1314C>T	p.Asn others(6): Show p.Asn438Asn	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	13/17	1572/2492	1314/1617	438/538		chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1344343	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(123): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18948.hp2 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19066.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0002 a0002c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 others(108): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0002t0001g0018 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0009t0002g0270 a0002c0003t0004g0250 a0002c0003t0004g0251 a0002c0003t0004g0252 a0002c0003t0004g0253	126	370	0.3405	0	c.263 others(5): Show c.263+8C>T		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	2/16					chr5	TogoVar
CLPTM1_chr19_44950380_44998341	44961965	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0181 a0001c0013t0001g0181	1	374	0.0027	0	c.75G others(2): Show c.75G>A	p.Val others(5): Show p.Val25Val	CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	2/14	91/2470	75/2010	25/669		chr19	TogoVar
CLPTM1_chr19_44950380_44998341	44974602	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp1 NA18952.hp1 NA18975.hp2 others(4): Show HG00673.hp1 NA18952.hp1 NA18975.hp2 NA18983.hp1 NA18989.hp1 NA18997.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0298 others(4): Show a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0310	7	374	0.0187	0	c.468 others(5): Show c.468+5G>A		CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	4/13					chr19	TogoVar
CLPTM1_chr19_44950380_44998341	44977468	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0034 a0001c0005t0001g0034	1	374	0.0027	0	c.586 others(5): Show c.586+8G>T		CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	5/13					chr19	TogoVar
CLPTM1_chr19_44950380_44998341	44985211	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02572.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0008 a0009c0016t0008	a0009c0016t0008g0314 a0009c0016t0008g0314	1	374	0.0027	0	c.587 others(5): Show c.587-7A>C		CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	5/13					chr19	TogoVar
CLPTM1_chr19_44950380_44998341	44985309	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(322): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.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.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0018 a0002c0008 a0003c0022 a0004c0021 a0005c0020 a0006c0019 a0007c0017 a0008c0023 a0009c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0010t0001 a0001c0013t0001 a0001c0014t0002 a0001c0015t0001 a0001c0018t0002 a0002c0008t0002 a0003c0022t0001 a0004c0021t0001 a0005c0020t0001 a0006c0019t0001 a0007c0017t0001 a0008c0023t0001 a0009c0016t0008	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(281): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0003g0012 a0001c0001t0003g0028 a0001c0001t0003g0259 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0276 a0001c0001t0006g0014 a0001c0001t0006g0042 a0001c0001t0007g0311 a0001c0001t0010g0041 a0001c0001t0011g0213 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0060 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0200 a0001c0002t0002g0005 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0312 a0001c0002t0005g0001 a0001c0002t0005g0026 a0001c0002t0005g0152 a0001c0002t0009g0196 a0001c0004t0001g0016 a0001c0004t0001g0050 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0059 a0001c0005t0001g0034 a0001c0005t0001g0204 a0001c0005t0001g0205 a0001c0005t0001g0206 a0001c0005t0001g0207 a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0006t0001g0032 a0001c0006t0001g0033 a0001c0006t0001g0035 a0001c0007t0001g0132 a0001c0007t0001g0142 a0001c0009t0001g0202 a0001c0009t0001g0203 a0001c0010t0001g0029 a0001c0010t0001g0291 a0001c0013t0001g0181 a0001c0014t0002g0063 a0001c0015t0001g0201 a0001c0018t0002g0072 a0002c0008t0002g0071 a0002c0008t0002g0076 a0003c0022t0001g0171 a0004c0021t0001g0286 a0005c0020t0001g0246 a0006c0019t0001g0226 a0007c0017t0001g0150 a0008c0023t0001g0284 a0009c0016t0008g0314	325	374	0.8690	0	c.672 others(5): Show c.672+6T>C		CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	6/13					chr19	TogoVar
CLPTM1_chr19_44950380_44998341	44990584	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0071 a0002c0008t0002g0076 a0002c0008t0002g0071 a0002c0008t0002g0076	2	374	0.0054	0	c.132 others(4): Show c.1322G>A	p.Arg others(6): Show p.Arg441Gln	CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	10/14	1338/2470	1322/2010	441/669		chr19	TogoVar
CLPTM1_chr19_44950380_44998341	44990952	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	374	0.0027	0	c.141 others(6): Show c.1419+7G>A		CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	11/13					chr19	TogoVar
CLRN2_chr4_17510165_17532104	17515518	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0017 a0001c0008t0001g0017	1	442	0.0023	0	c.252 others(3): Show c.252G>A	p.Thr others(5): Show p.Thr84Thr	CLRN2	ENSG00000249581.2	transcript	ENST00000511148.2	protein_coding	1/3	354/823	252/699	84/232		chr4	TogoVar
CLRN2_chr4_17510165_17532104	17527102	A A	C C	splice_region_variant splice_region_variant	LOW	HG02615.hp1 HG03579.hp2 HG02615.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0107 a0001c0001t0002g0108	2	442	0.0045	0	c.20 others(3): Show c.20A>C		CLRN2	ENSG00000249581.2	transcript	ENST00000511148.2	protein_coding	3/3					chr4	TogoVar
CLSPN_chr1_35727112_35774978	35737421	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03471.hp1 HG03471.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0006 a0017c0019t0006	a0017c0019t0006g0227 a0017c0019t0006g0227	1	296	0.0034	0	c.366 others(4): Show c.3665C>A	p.Ala others(7): Show p.Ala1222Asp	CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding	23/25	3773/8512	3665/4020	1222/1339		chr1	TogoVar
CLSPN_chr1_35727112_35774978	35739265	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp1 HG03098.hp2 HG03195.hp2 others(4): Show HG02970.hp1 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0014 a0003c0003t0004 a0003c0003t0014	a0003c0003t0004g0023 a0003c0003t0004g0198 a0003c0003t0004g0199 others(3): Show a0003c0003t0004g0023 a0003c0003t0004g0198 a0003c0003t0004g0199 a0003c0003t0014g0195 a0003c0003t0014g0196 a0003c0003t0014g0197	7	296	0.0237	0	c.330 others(6): Show c.3309-8T>C		CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding	19/24					chr1	TogoVar
CLSPN_chr1_35727112_35774978	35743448	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0155 a0002c0002t0005g0155	1	296	0.0034	0	c.304 others(6): Show c.3042+7A>T		CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding	17/24					chr1	TogoVar
CLSPN_chr1_35727112_35774978	35762000	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18964.hp2 NA19082.hp1 NA18964.hp2 NA19082.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0016 a0009c0010t0001g0016	2	296	0.0068	0	c.893 others(3): Show c.893G>A	p.Arg others(6): Show p.Arg298Gln	CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding	6/25	1001/8512	893/4020	298/1339		chr1	TogoVar
CLSTN1_chr1_9723926_9828965	9731894	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0145 a0001c0016t0001g0145	1	270	0.0037	0	c.243 others(4): Show c.2430G>A	p.Val others(6): Show p.Val810Val	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	17/19	2662/4760	2430/2946	810/981		chr1	TogoVar
CLSTN1_chr1_9723926_9828965	9733394	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG01123.hp2 HG01261.hp2 others(26): Show HG01081.hp1 HG01123.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG02083.hp1 HG02602.hp1 HG02698.hp1 HG03491.hp2 HG03688.hp2 HG03831.hp1 HG04199.hp2 HG04204.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18948.hp2 NA18951.hp1 NA18963.hp1 NA18971.hp1 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19070.hp1 NA19082.hp1 NA19088.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0002c0019 a0009c0012 a0002c0002 a0002c0019 a0009c0012	a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0002t0017 a0002c0019t0002 a0009c0012t0003	a0002c0002t0002g0043 a0002c0002t0002g0047 a0002c0002t0002g0059 others(26): Show a0002c0002t0002g0043 a0002c0002t0002g0047 a0002c0002t0002g0059 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0054 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0011g0053 a0002c0002t0017g0107 a0002c0019t0002g0060 a0009c0012t0003g0036	29	270	0.1074	0	c.242 others(6): Show c.2427+7A>T		CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	16/18					chr1	TogoVar
CLSTN1_chr1_9723926_9828965	9755314	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG01257.hp1 HG01258.hp1 others(22): Show HG00423.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01928.hp2 HG01975.hp1 HG02040.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02300.hp1 HG02523.hp2 HG04199.hp1 NA18956.hp1 NA18971.hp2 NA18979.hp2 NA19010.hp2 NA19060.hp1 NA19066.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0007 a0001c0003 a0002c0002 a0002c0007	a0001c0003t0006 a0002c0002t0002 a0002c0002t0012 others(1): Show a0001c0003t0006 a0002c0002t0002 a0002c0002t0012 a0002c0007t0002	a0001c0003t0006g0096 a0002c0002t0002g0071 a0002c0002t0002g0072 others(22): Show a0001c0003t0006g0096 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0012g0090 a0002c0007t0002g0076 a0002c0007t0002g0087	25	270	0.0926	0	c.245 others(5): Show c.245-5C>T		CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	3/18					chr1	TogoVar

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