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
CATIP_chr2_218351857_218373094	218367427	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	366	0.0027	0	c.833 others(5): Show c.833-3T>C		CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	8/9					chr2	TogoVar
CATSPER1_chr11_66011752_66031479	66020311	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18971.hp1 NA19089.hp1 NA18971.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0130 a0001c0003t0001g0124 a0001c0003t0001g0130	2	408	0.0049	0	c.206 others(6): Show c.2064+6G>A		CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	8/11					chr11	TogoVar
CATSPER1_chr11_66011752_66031479	66020558	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19003.hp2 NA19003.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0134 a0012c0025t0001g0134	1	408	0.0025	0	c.199 others(6): Show c.1991+6G>T		CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	7/11					chr11	TogoVar
CATSPER1_chr11_66011752_66031479	66020559	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19003.hp2 NA19003.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0134 a0012c0025t0001g0134	1	408	0.0025	0	c.199 others(6): Show c.1991+5G>A		CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	7/11					chr11	TogoVar
CATSPER1_chr11_66011752_66031479	66020807	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19003.hp2 NA19003.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0134 a0012c0025t0001g0134	1	408	0.0025	0	c.192 others(6): Show c.1927+4G>C		CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	6/11					chr11	TogoVar
CATSPER1_chr11_66011752_66031479	66020808	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19003.hp2 NA19003.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0134 a0012c0025t0001g0134	1	408	0.0025	0	c.192 others(6): Show c.1927+3A>C		CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	6/11					chr11	TogoVar
CATSPER1_chr11_66011752_66031479	66021193	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19003.hp2 NA19003.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0134 a0012c0025t0001g0134	1	408	0.0025	0	c.169 others(6): Show c.1692-8G>A		CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	4/11					chr11	TogoVar
CATSPER1_chr11_66011752_66031479	66021479	GAGCCGTG others(26): Show GAGCCGTGGCCACTGACCTGAGCCTCCGCAGGAC	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19003.hp2 NA19003.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0134 a0012c0025t0001g0134	1	408	0.0025	-33	c.167 others(45): Show c.1675_1691+16delGTCCTGCGGAGGCTCAGGTCAGTGGCCACGGCT	p.Val others(5): Show p.Val559fs	CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	4/12		1675/2343	559/780		chr11	TogoVar
CATSPER2_chr15_43623503_43653844	43632937	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0003c0003 a0006c0009 a0007c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0005t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 a0002c0002t0023 a0002c0008t0002 a0003c0003t0008 a0003c0003t0011 a0003c0003t0021 a0006c0009t0002 a0007c0012t0022	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 others(113): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0195 a0001c0001t0004g0003 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0005g0054 a0001c0001t0006g0012 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0010g0026 a0001c0001t0010g0189 a0001c0001t0014g0124 a0001c0001t0018g0128 a0001c0005t0004g0046 a0001c0005t0004g0047 a0001c0005t0004g0048 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0199 a0002c0002t0009g0177 a0002c0002t0009g0196 a0002c0002t0009g0197 a0002c0002t0009g0198 a0002c0002t0012g0142 a0002c0002t0012g0158 a0002c0002t0023g0147 a0002c0008t0002g0139 a0003c0003t0008g0022 a0003c0003t0008g0129 a0003c0003t0011g0049 a0003c0003t0011g0050 a0003c0003t0021g0127 a0006c0009t0002g0140 a0007c0012t0022g0180	176	392	0.4490	0	c.117 others(6): Show c.1179-3A>C		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	10/12					chr15	TogoVar
CATSPER2_chr15_43623503_43653844	43632942	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0003c0003 a0006c0009 a0007c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0005t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 a0002c0002t0023 a0002c0008t0002 a0003c0003t0008 a0003c0003t0011 a0003c0003t0021 a0006c0009t0002 a0007c0012t0022	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 others(113): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0195 a0001c0001t0004g0003 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0005g0054 a0001c0001t0006g0012 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0010g0026 a0001c0001t0010g0189 a0001c0001t0014g0124 a0001c0001t0018g0128 a0001c0005t0004g0046 a0001c0005t0004g0047 a0001c0005t0004g0048 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0199 a0002c0002t0009g0177 a0002c0002t0009g0196 a0002c0002t0009g0197 a0002c0002t0009g0198 a0002c0002t0012g0142 a0002c0002t0012g0158 a0002c0002t0023g0147 a0002c0008t0002g0139 a0003c0003t0008g0022 a0003c0003t0008g0129 a0003c0003t0011g0049 a0003c0003t0011g0050 a0003c0003t0021g0127 a0006c0009t0002g0140 a0007c0012t0022g0180	176	392	0.4490	0	c.117 others(6): Show c.1179-8T>C		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	10/12					chr15	TogoVar
CATSPER4_chr1_26185602_26207964	26191282	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG00642.hp2 HG00738.hp1 others(37): Show HG00639.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG02015.hp2 HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0010	a0001c0001 a0001c0015 a0003c0004 others(4): Show a0001c0001 a0001c0015 a0003c0004 a0003c0006 a0006c0008 a0007c0012 a0010c0018	a0001c0001t0001 a0001c0015t0002 a0003c0004t0001 others(5): Show a0001c0001t0001 a0001c0015t0002 a0003c0004t0001 a0003c0004t0002 a0003c0006t0001 a0006c0008t0001 a0007c0012t0001 a0010c0018t0001	a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0045 others(28): Show a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0015t0002g0043 a0003c0004t0001g0009 a0003c0004t0001g0014 a0003c0004t0001g0028 a0003c0004t0001g0048 a0003c0004t0001g0049 a0003c0004t0001g0050 a0003c0004t0001g0052 a0003c0004t0001g0053 a0003c0004t0001g0054 a0003c0004t0001g0055 a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0058 a0003c0004t0001g0061 a0003c0004t0001g0062 a0003c0004t0002g0014 a0003c0004t0002g0051 a0003c0006t0001g0009 a0003c0006t0001g0059 a0003c0006t0001g0060 a0003c0006t0001g0063 a0006c0008t0001g0027 a0007c0012t0001g0029 a0007c0012t0001g0064 a0010c0018t0001g0042	40	398	0.1005	0	c.214 others(5): Show c.214-5T>C		CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding	1/9					chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26197789	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG02257.hp2 HG03516.hp2 others(1): Show HG00639.hp2 HG02257.hp2 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0066	4	398	0.0101	0	c.557 others(5): Show c.557+6C>A		CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding	4/9					chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26199884	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01167.hp1 HG01169.hp1 HG01261.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0006 a0001c0010t0002g0041 a0001c0010t0002g0006 a0001c0010t0002g0041	3	398	0.0075	0	c.813 others(3): Show c.813G>A	p.Gln others(6): Show p.Gln271Gln	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding	7/10	839/1867	813/1419	271/472		chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26200063	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00733.hp1 HG00741.hp1 others(53): Show HG00280.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01361.hp1 HG01515.hp1 HG01891.hp2 HG02004.hp1 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1 NA19080.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0004c0005t0002	a0001c0001t0001g0013 a0001c0001t0001g0130 a0001c0001t0001g0149 others(30): Show a0001c0001t0001g0013 a0001c0001t0001g0130 a0001c0001t0001g0149 a0001c0001t0001g0183 a0001c0001t0001g0184 a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0021 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0081 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0002g0025 a0002c0002t0002g0039 a0002c0002t0002g0135 a0002c0002t0002g0144 a0002c0002t0002g0146 a0002c0002t0002g0148 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0006g0133 a0002c0002t0007g0017 a0004c0005t0002g0003 a0004c0005t0002g0174	56	398	0.1407	0	c.987 others(5): Show c.987+5G>A		CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding	7/9					chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91608412	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp1 NA19030.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0261 a0001c0002t0002g0164 a0001c0002t0002g0261	2	271	0.0074	0	c.259 others(6): Show c.2599-8A>C		CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	21/26					chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5739309	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp2 HG02109.hp1 HG02258.hp2 others(12): Show HG00621.hp2 HG02109.hp1 HG02258.hp2 HG02486.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03579.hp1 NA18906.hp1 NA18966.hp2 NA19066.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0011 a0013 a0016	a0001c0001 a0001c0034 a0002c0002 others(5): Show a0001c0001 a0001c0034 a0002c0002 a0003c0004 a0004c0003 a0011c0008 a0013c0030 a0016c0013	a0001c0001t0001 a0001c0001t0002 a0001c0034t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0034t0001 a0002c0002t0001 a0003c0004t0001 a0004c0003t0001 a0011c0008t0001 a0013c0030t0001 a0016c0013t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0033 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0002g0024 a0001c0034t0001g0023 a0002c0002t0001g0127 a0003c0004t0001g0022 a0003c0004t0001g0314 a0004c0003t0001g0132 a0011c0008t0001g0010 a0011c0008t0001g0012 a0011c0008t0001g0014 a0013c0030t0001g0295 a0016c0013t0001g0009 a0016c0013t0001g0015	15	336	0.0446	1	c.460 others(6): Show c.460-5dupT		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	6/21				INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244463910	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0001 a0008c0024t0001	a0008c0024t0001g0081 a0008c0024t0001g0081	1	206	0.0049	0	c.68A others(2): Show c.68A>T	p.Tyr others(5): Show p.Tyr23Phe	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	2/22	225/3436	68/2856	23/951		chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38335883	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG00621.hp2 NA18612.hp2 others(8): Show HG00597.hp1 HG00621.hp2 NA18612.hp2 NA18940.hp1 NA18952.hp2 NA18963.hp1 NA18991.hp2 NA18999.hp1 NA19002.hp2 NA19065.hp2 NA19070.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0001g0016 others(8): Show a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0020 a0001c0005t0001g0021 a0001c0005t0001g0022 a0001c0005t0001g0023 a0001c0005t0001g0024	11	376	0.0293	0	c.-15 others(5): Show c.-15+8G>C		CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	1/28					chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38337507	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18991.hp1 NA18991.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0221 a0009c0016t0001g0221	1	376	0.0027	0	c.270 others(5): Show c.270+3G>A		CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	2/28					chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38337589	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18991.hp1 NA18991.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0221 a0009c0016t0001g0221	1	376	0.0027	0	c.271 others(5): Show c.271-4G>T		CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	2/28					chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38337649	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02622.hp1 HG02896.hp1 others(1): Show HG02258.hp1 HG02622.hp1 HG02896.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 others(1): Show a0001c0001t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0099	4	376	0.0106	0	c.324 others(5): Show c.324+3G>A		CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	3/28					chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38360655	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0350 a0001c0002t0001g0350	1	376	0.0027	0	c.176 others(6): Show c.1767+8G>C		CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	15/28					chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38360724	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG02132.hp2 NA18946.hp2 others(5): Show HG00408.hp1 HG02132.hp2 NA18946.hp2 NA18953.hp2 NA18961.hp2 NA18968.hp2 NA19003.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0001 a0001c0001t0001 a0001c0023t0001	a0001c0001t0001g0240 a0001c0001t0001g0305 a0001c0001t0001g0341 others(5): Show a0001c0001t0001g0240 a0001c0001t0001g0305 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0023t0001g0342	8	376	0.0213	0	c.176 others(6): Show c.1768-7C>A		CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	15/28					chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38367152	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18992.hp1 NA18992.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0105 a0003c0004t0001g0105	1	376	0.0027	0	c.261 others(6): Show c.2614-4C>T		CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	22/28					chr19	TogoVar
CATSPERZ_chr11_64295358_64309770	64300985	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18998.hp2 NA18998.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0033 a0006c0007t0001g0033	1	392	0.0026	0	c.350 others(3): Show c.350C>A	p.Ala others(6): Show p.Ala117Asp	CATSPERZ	ENSG00000219435.6	transcript	ENST00000328404.8	protein_coding	2/5	403/780	350/603	117/200		chr11	TogoVar
CAT_chr11_34433934_34477060	34450983	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18959.hp2 NA18984.hp1 NA18995.hp2 others(2): Show NA18959.hp2 NA18984.hp1 NA18995.hp2 NA19005.hp1 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0060 a0001c0002t0001g0250 a0001c0002t0001g0251 others(2): Show a0001c0002t0001g0060 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0005t0001g0060	5	424	0.0118	0	c.239 others(5): Show c.239-5G>A		CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding	2/12					chr11	TogoVar
CAVIN2_chr2_191829310_191852088	191846436	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(342): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.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(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0014 a0002c0003 a0003c0013 a0004c0008 a0005c0010 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001 a0001c0012t0005 a0001c0014t0003 a0002c0003t0001 a0002c0003t0004 a0002c0003t0013 a0003c0013t0002 a0004c0008t0003 a0005c0010t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 others(95): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0004g0083 a0001c0001t0005g0023 a0001c0001t0005g0034 a0001c0001t0006g0009 a0001c0001t0006g0077 a0001c0001t0006g0088 a0001c0001t0009g0021 a0001c0001t0010g0030 a0001c0001t0011g0029 a0001c0001t0014g0064 a0001c0001t0015g0065 a0001c0001t0016g0055 a0001c0001t0017g0066 a0001c0001t0018g0071 a0001c0001t0019g0067 a0001c0001t0020g0113 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0016 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0043 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0076 a0001c0002t0002g0091 a0001c0002t0003g0003 a0001c0002t0003g0012 a0001c0002t0003g0014 a0001c0002t0003g0027 a0001c0002t0003g0058 a0001c0002t0003g0072 a0001c0002t0003g0074 a0001c0002t0003g0081 a0001c0002t0004g0005 a0001c0002t0004g0084 a0001c0002t0005g0059 a0001c0002t0005g0085 a0001c0002t0006g0075 a0001c0002t0007g0011 a0001c0002t0008g0020 a0001c0004t0004g0026 a0001c0004t0004g0051 a0001c0004t0004g0087 a0001c0005t0001g0107 a0001c0005t0002g0025 a0001c0005t0002g0037 a0001c0006t0001g0038 a0001c0007t0001g0039 a0001c0012t0005g0108 a0001c0014t0003g0110 a0002c0003t0001g0082 a0002c0003t0001g0098 a0002c0003t0004g0013 a0002c0003t0004g0015 a0002c0003t0004g0018 a0002c0003t0004g0054 a0002c0003t0004g0061 a0002c0003t0004g0095 a0002c0003t0013g0086 a0003c0013t0002g0109 a0004c0008t0003g0040 a0005c0010t0001g0069 a0006c0009t0001g0068	345	382	0.9031	0	c.483 others(5): Show c.483+7T>G		CAVIN2	ENSG00000168497.5	transcript	ENST00000304141.5	protein_coding	1/1					chr2	TogoVar
CAVIN3_chr11_6313946_6325501	6318948	C C	A A	splice_region_variant splice_region_variant	LOW	NA18970.hp2 NA19084.hp1 NA18970.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0016 a0002c0002t0004g0016	2	426	0.0047	0	c.21 others(4): Show c.215G>T		CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding	2/2					chr11	TogoVar
CAVIN4_chr9_100573079_100593389	100578557	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02970.hp2 HG03098.hp2 HG02145.hp2 HG02970.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	3	382	0.0079	0	c.408 others(5): Show c.408+6C>A		CAVIN4	ENSG00000170681.7	transcript	ENST00000307584.6	protein_coding	1/1					chr9	TogoVar
CBARP_chr19_1223287_1243005	1234183	G G	GGCGAGGA others(37): Show GGCGAGGAGCCTTCTAGACACGCACCTCCTTTTCTCTGCAAACCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp1 HG02896.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0083 a0009c0029t0002g0083	1	408	0.0025	44	c.768 others(55): Show c.768+7_768+8insGGGTTTGCAGAGAAAAGGAGGTGCGTGTCTAGAA GGCTCCTCGC		CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	7/9					chr19	TogoVar
CBARP_chr19_1223287_1243005	1234186	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp1 HG02896.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0083 a0009c0029t0002g0083	1	408	0.0025	0	c.768 others(5): Show c.768+5G>T		CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	7/9					chr19	TogoVar
CBARP_chr19_1223287_1243005	1234192	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0083 a0009c0029t0002g0083	1	408	0.0025	0	c.767 others(3): Show c.767C>T	p.Ser others(6): Show p.Ser256Leu	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	7/10	1038/3281	767/2118	256/705		chr19	TogoVar
CBARP_chr19_1223287_1243005	1234193	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0083 a0009c0029t0002g0083	1	408	0.0025	0	c.766 others(3): Show c.766T>C	p.Ser others(6): Show p.Ser256Pro	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	7/10	1037/3281	766/2118	256/705		chr19	TogoVar
CBFA2T2_chr20_33485096_33655030	33490300	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0282 a0001c0006t0007g0282	1	298	0.0034	0	c.33G others(2): Show c.33G>A	p.Gln others(5): Show p.Gln11Gln	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/11	205/7344	33/1788	11/595		chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88885276	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0069 a0001c0016t0005g0069	1	284	0.0035	0	c.894 others(5): Show c.894-7G>C		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	6/11					chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88891874	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(101): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0015 a0001c0018 a0001c0020 a0001c0021 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0019 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0033 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0030 a0001c0002t0035 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0011 a0001c0005t0012 a0001c0005t0028 a0001c0006t0001 a0001c0008t0014 a0001c0008t0032 a0001c0009t0007 a0001c0009t0015 a0001c0010t0002 a0001c0015t0007 a0001c0018t0001 a0001c0020t0029 a0001c0021t0011 a0005c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 others(101): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0256 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0002g0255 a0001c0001t0002g0265 a0001c0001t0013g0001 a0001c0001t0019g0065 a0001c0001t0025g0099 a0001c0001t0027g0156 a0001c0001t0031g0232 a0001c0001t0033g0116 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0003g0087 a0001c0002t0003g0090 a0001c0002t0003g0168 a0001c0002t0005g0005 a0001c0002t0005g0217 a0001c0002t0030g0089 a0001c0002t0035g0284 a0001c0003t0001g0085 a0001c0003t0001g0204 a0001c0003t0002g0253 a0001c0003t0004g0199 a0001c0003t0004g0200 a0001c0003t0011g0007 a0001c0005t0012g0184 a0001c0005t0028g0249 a0001c0006t0001g0020 a0001c0006t0001g0211 a0001c0008t0014g0167 a0001c0008t0032g0146 a0001c0009t0007g0100 a0001c0009t0015g0083 a0001c0010t0002g0281 a0001c0010t0002g0282 a0001c0015t0007g0115 a0001c0018t0001g0263 a0001c0020t0029g0111 a0001c0021t0011g0077 a0005c0012t0001g0121	104	284	0.3662	0	c.711 others(5): Show c.711+8G>C		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11					chr16	TogoVar
CBLB_chr3_105650461_105874012	105737264	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	380	0.0026	0	c.984 others(5): Show c.984-6A>T		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	7/18					chr3	TogoVar
CBLB_chr3_105650461_105874012	105853406	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0268 a0001c0001t0004g0268	1	380	0.0026	0	c.419 others(5): Show c.419+8G>T		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18					chr3	TogoVar
CBLC_chr19_44772890_44805652	44781370	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	344	0.0029	0	c.657 others(5): Show c.657+7G>A		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	3/10					chr19	TogoVar
CBLC_chr19_44772890_44805652	44793467	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	344	0.0029	0	c.113 others(6): Show c.1138-7C>T		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	7/10					chr19	TogoVar
CBLC_chr19_44772890_44805652	44794193	T T	TC TC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02922.hp2 HG02976.hp2 others(5): Show HG02145.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 HG03225.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2	a0000 a0000	a0000c0002 a0000c0007 a0000c0002 a0000c0007	a0000c0002t0001 a0000c0007t0001 a0000c0002t0001 a0000c0007t0001	a0000c0002t0001g0032 a0000c0002t0001g0049 a0000c0002t0001g0063 others(4): Show a0000c0002t0001g0032 a0000c0002t0001g0049 a0000c0002t0001g0063 a0000c0002t0001g0272 a0000c0007t0001g0014 a0000c0007t0001g0042 a0000c0007t0001g0046	8	344	0.0233	1	c.128 others(7): Show c.1285-8dupC		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	8/10				INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLC_chr19_44772890_44805652	44794197	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00735.hp2 HG00738.hp2 others(62): Show HG00140.hp2 HG00735.hp2 HG00738.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG02056.hp1 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18963.hp1 NA18970.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA19001.hp2 NA19012.hp1 NA19043.hp2 NA19080.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp2	a0000 a0001 a0003 others(1): Show a0000 a0001 a0003 a0008	a0000c0002 a0000c0004 a0000c0007 others(7): Show a0000c0002 a0000c0004 a0000c0007 a0000c0017 a0001c0001 a0001c0006 a0001c0008 a0001c0009 a0003c0005 a0008c0019	a0000c0002t0001 a0000c0004t0001 a0000c0007t0001 others(8): Show a0000c0002t0001 a0000c0004t0001 a0000c0007t0001 a0000c0017t0001 a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0009t0002 a0003c0005t0001 a0008c0019t0001	a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0032 others(59): Show a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0032 a0000c0002t0001g0034 a0000c0002t0001g0036 a0000c0002t0001g0037 a0000c0002t0001g0039 a0000c0002t0001g0040 a0000c0002t0001g0041 a0000c0002t0001g0044 a0000c0002t0001g0049 a0000c0002t0001g0063 a0000c0002t0001g0067 a0000c0002t0001g0077 a0000c0002t0001g0079 a0000c0002t0001g0127 a0000c0002t0001g0179 a0000c0002t0001g0188 a0000c0002t0001g0193 a0000c0002t0001g0201 a0000c0002t0001g0225 a0000c0002t0001g0256 a0000c0002t0001g0261 a0000c0002t0001g0262 a0000c0002t0001g0272 a0000c0004t0001g0058 a0000c0004t0001g0087 a0000c0004t0001g0088 a0000c0004t0001g0089 a0000c0004t0001g0090 a0000c0004t0001g0091 a0000c0004t0001g0092 a0000c0004t0001g0093 a0000c0004t0001g0094 a0000c0004t0001g0095 a0000c0004t0001g0113 a0000c0007t0001g0014 a0000c0007t0001g0042 a0000c0007t0001g0046 a0000c0017t0001g0114 a0001c0001t0001g0045 a0001c0006t0001g0047 a0001c0006t0001g0048 a0001c0006t0001g0052 a0001c0006t0001g0053 a0001c0006t0001g0062 a0001c0006t0001g0116 a0001c0006t0001g0117 a0001c0008t0001g0050 a0001c0009t0001g0065 a0001c0009t0001g0073 a0001c0009t0002g0064 a0003c0005t0001g0029 a0003c0005t0001g0033 a0003c0005t0001g0038 a0003c0005t0001g0054 a0003c0005t0001g0055 a0003c0005t0001g0066 a0003c0005t0001g0115 a0003c0005t0001g0118 a0003c0005t0001g0271 a0008c0019t0001g0060	65	344	0.1890	0	c.128 others(6): Show c.1285-7A>C		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	8/10					chr19	TogoVar
CBLC_chr19_44772890_44805652	44794199	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02145.hp2 HG02559.hp1 others(6): Show HG01884.hp2 HG02145.hp2 HG02559.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 NA18522.hp1 NA19240.hp1 NA20300.hp2	a0001 a0008 a0001 a0008	a0001c0006 a0001c0009 a0008c0019 a0001c0006 a0001c0009 a0008c0019	a0001c0006t0001 a0001c0009t0001 a0001c0009t0002 others(1): Show a0001c0006t0001 a0001c0009t0001 a0001c0009t0002 a0008c0019t0001	a0001c0006t0001g0048 a0001c0006t0001g0052 a0001c0006t0001g0053 others(6): Show a0001c0006t0001g0048 a0001c0006t0001g0052 a0001c0006t0001g0053 a0001c0006t0001g0062 a0001c0006t0001g0116 a0001c0006t0001g0117 a0001c0009t0001g0065 a0001c0009t0002g0064 a0008c0019t0001g0060	9	344	0.0262	0	c.128 others(6): Show c.1285-5C>G		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	8/10					chr19	TogoVar
CBLL1_chr7_107739142_107766667	107753411	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0009 a0002c0005t0001g0009	1	432	0.0023	0	c.182 others(3): Show c.182A>G	p.Glu others(5): Show p.Glu61Gly	CBLL1	ENSG00000105879.13	transcript	ENST00000440859.8	protein_coding	3/6	204/3987	182/1476	61/491		chr7	TogoVar
CBLN2_chr18_72531681_72549342	72538371	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18963.hp1 NA18971.hp1 NA19064.hp1 others(2): Show NA18963.hp1 NA18971.hp1 NA19064.hp1 NA19083.hp1 NA19088.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0038 a0001c0005t0002g0093 a0001c0005t0002g0098 others(1): Show a0001c0005t0002g0038 a0001c0005t0002g0093 a0001c0005t0002g0098 a0001c0005t0002g0100	5	416	0.0120	0	c.480 others(3): Show c.480C>T	p.Val others(6): Show p.Val160Val	CBLN2	ENSG00000141668.10	transcript	ENST00000269503.9	protein_coding	5/5	1057/2747	480/675	160/224		chr18	TogoVar
CBLN2_chr18_72531681_72549342	72543538	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18974.hp2 NA19011.hp2 NA18974.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0042 a0001c0003t0002g0042	2	416	0.0048	0	c.-21 others(6): Show c.-211-8C>T		CBLN2	ENSG00000141668.10	transcript	ENST00000269503.9	protein_coding	1/4					chr18	TogoVar
CBLN4_chr20_55992357_56010519	55997358	AG AG	A A	splice_region_variant splice_region_variant	LOW	HG02647.hp2 HG02965.hp1 HG03486.hp2 others(1): Show HG02647.hp2 HG02965.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0022 a0001c0001t0012g0066 a0001c0001t0012g0022 a0001c0001t0012g0066	4	426	0.0094	-1	c.11 others(6): Show c.1198delC		CBLN4	ENSG00000054803.4	transcript	ENST00000064571.3	protein_coding	3/3					chr20	TogoVar
CBL_chr11_119201339_119313149	119274032	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	364	0.0028	0	c.747 others(5): Show c.747+8A>G		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	4/15					chr11	TogoVar
CBL_chr11_119201339_119313149	119274957	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp2 HG01243.hp2 HG02451.hp2 others(5): Show HG01123.hp2 HG01243.hp2 HG02451.hp2 HG02965.hp2 HG03041.hp2 HG03486.hp2 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 others(5): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0037g0018	8	364	0.0220	0	c.869 others(5): Show c.869+4A>G		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	5/15					chr11	TogoVar
CBL_chr11_119201339_119313149	119285106	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	364	0.0028	0	c.156 others(6): Show c.1563+6G>A		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	10/15					chr11	TogoVar

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