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
C8orf74_chr8_10667628_10705590	10698005	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp1 HG03579.hp1 NA19030.hp1 HG02451.hp1 HG03579.hp1 NA19030.hp1	a0007 a0010 a0007 a0010	a0007c0010 a0010c0017 a0007c0010 a0010c0017	a0007c0010t0002 a0010c0017t0001 a0007c0010t0002 a0010c0017t0001	a0007c0010t0002g0034 a0010c0017t0001g0231 a0007c0010t0002g0034 a0010c0017t0001g0231	3	430	0.0070	0	c.648 others(3): Show c.648G>C	p.Gln others(6): Show p.Gln216His	C8orf74	ENSG00000171060.11	transcript	ENST00000304519.10	protein_coding	3/4	686/1042	648/885	216/294		chr8	TogoVar
C8orf76_chr8_123214967_123246377	123226632	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02145.hp2 HG02280.hp1 HG02451.hp2 others(11): Show HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02886.hp2 HG02895.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0078 others(7): Show a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0078 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092	14	230	0.0609	0	c.816 others(3): Show c.816G>A	p.Arg others(6): Show p.Arg272Arg	C8orf76	ENSG00000189376.12	transcript	ENST00000276704.6	protein_coding	5/6	847/1310	816/1143	272/380		chr8	TogoVar
C8orf88_chr8_90953471_90990238	90980464	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG02615.hp2 HG02970.hp1 others(2): Show HG00735.hp1 HG02615.hp2 HG02970.hp1 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 others(2): Show a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063	5	368	0.0136	0	c.-26 others(5): Show c.-26-3T>C		C8orf88	ENSG00000253250.3	transcript	ENST00000517562.3	protein_coding	1/5					chr8	TogoVar
C9_chr5_39279140_39369495	39285236	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG03195.hp2 HG01167.hp2 HG03195.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0137 a0007c0008t0007g0230 a0007c0008t0007g0137 a0007c0008t0007g0230	2	394	0.0051	0	c.164 others(6): Show c.1646-3T>C		C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	10/10					chr5	TogoVar
C9orf153_chr9_86215265_86264657	86220267	C C	T T	splice_region_variant splice_region_variant	LOW	HG01255.hp2 HG02572.hp1 HG02615.hp1 others(11): Show HG01255.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 NA18906.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0009 a0002c0002t0005 a0002c0002t0009	a0002c0002t0005g0005 a0002c0002t0005g0188 a0002c0002t0005g0227 others(9): Show a0002c0002t0005g0005 a0002c0002t0005g0188 a0002c0002t0005g0227 a0002c0002t0005g0250 a0002c0002t0005g0252 a0002c0002t0005g0253 a0002c0002t0005g0311 a0002c0002t0005g0312 a0002c0002t0005g0318 a0002c0002t0005g0342 a0002c0002t0009g0039 a0002c0002t0009g0173	14	384	0.0365	0	c.14 others(5): Show c.1421G>A		C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	4/4					chr9	TogoVar
C9orf153_chr9_86215265_86264657	86259543	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(178): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 a0003c0003t0008	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(163): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0004g0003 a0001c0001t0004g0009 a0001c0001t0004g0012 a0001c0001t0004g0037 a0001c0001t0004g0075 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0097 a0001c0001t0004g0158 a0001c0001t0010g0041 a0001c0001t0010g0161 a0001c0001t0012g0132 a0001c0001t0013g0053 a0001c0001t0014g0104 a0001c0001t0015g0149 a0001c0001t0016g0126 a0002c0002t0002g0056 a0002c0002t0006g0093 a0002c0002t0006g0094 a0002c0002t0006g0115 a0002c0002t0009g0039 a0002c0002t0009g0173 a0003c0003t0008g0011	181	384	0.4714	0	c.-27 others(5): Show c.-27+7G>T		C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3					chr9	TogoVar
C9orf43_chr9_113405747_113434690	113422515	ATGTTTTG others(3): Show ATGTTTTGTTT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	310	0.0032	-10	c.447 others(22): Show c.447-17_447-8delGTTTTGTTTT		C9orf43	ENSG00000157653.12	transcript	ENST00000374165.6	protein_coding	5/13				INFO_REALIGN_3_PRIME	chr9	TogoVar
C9orf72_chr9_27541546_27578481	27565525	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG03130.hp2 HG02922.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0143 a0001c0001t0011g0144 a0001c0001t0011g0143 a0001c0001t0011g0144	2	438	0.0046	0	c.504 others(5): Show c.504+6T>G		C9orf72	ENSG00000147894.17	transcript	ENST00000380003.8	protein_coding	3/10					chr9	TogoVar
CA11_chr19_48632946_48651187	48638149	AAGAC AAGAC	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(99): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG01952.hp1 HG02040.hp1 HG02056.hp2 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 NA18940.hp2 NA18947.hp2 NA18950.hp1 NA18963.hp2 NA18970.hp1 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19054.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19080.hp1 NA19083.hp1 NA19087.hp1 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 others(47): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096	102	392	0.2602	-4	c.962 others(15): Show c.962-9_962-6delGTCT		CA11	ENSG00000063180.9	transcript	ENST00000084798.9	protein_coding	8/8					chr19	TogoVar
CA14_chr1_150252774_150270078	150262875	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	416	0.0024	0	c.562 others(5): Show c.562+5G>A		CA14	ENSG00000118298.12	transcript	ENST00000369111.9	protein_coding	6/10					chr1	TogoVar
CA3_chr8_85433859_85454040	85438946	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG01261.hp1 HG02055.hp1 others(8): Show HG01070.hp2 HG01261.hp1 HG02055.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0026 others(5): Show a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031	11	364	0.0302	0	c.34+ others(4): Show c.34+3G>A		CA3	ENSG00000164879.7	transcript	ENST00000285381.3	protein_coding	1/6					chr8	TogoVar
CA3_chr8_85433859_85454040	85442196	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01943.hp1 HG02895.hp1 HG02897.hp2 HG01943.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0002g0051 a0001c0001t0001g0018 a0001c0001t0002g0051	3	364	0.0082	0	c.351 others(5): Show c.351+5G>A		CA3	ENSG00000164879.7	transcript	ENST00000285381.3	protein_coding	3/6					chr8	TogoVar
CA3_chr8_85433859_85454040	85448029	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	364	0.0028	0	c.664 others(5): Show c.664-5T>C		CA3	ENSG00000164879.7	transcript	ENST00000285381.3	protein_coding	6/6					chr8	TogoVar
CA5B_chrX_15733270_15793411	15774404	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(159): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0004c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(25): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0003c0005t0002 a0004c0003t0007	a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0012 others(154): Show a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0062 a0001c0001t0003g0160 a0001c0001t0003g0260 a0001c0001t0005g0067 a0001c0001t0005g0086 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0008g0024 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0009g0031 a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0001t0010g0027 a0001c0001t0012g0262 a0001c0001t0012g0263 a0001c0001t0013g0249 a0001c0001t0013g0258 a0001c0001t0014g0050 a0001c0001t0014g0248 a0001c0001t0015g0023 a0001c0001t0016g0022 a0001c0001t0029g0055 a0001c0001t0030g0257 a0001c0001t0031g0187 a0001c0001t0032g0063 a0001c0001t0033g0004 a0001c0001t0034g0030 a0001c0001t0035g0259 a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0054 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0085 a0001c0002t0002g0112 a0001c0002t0002g0117 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0256 a0001c0002t0004g0009 a0001c0002t0004g0060 a0001c0002t0004g0176 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0201 a0001c0002t0004g0202 a0001c0002t0004g0205 a0001c0002t0004g0218 a0001c0002t0004g0232 a0001c0002t0004g0240 a0001c0002t0007g0165 a0001c0002t0007g0206 a0001c0002t0007g0224 a0001c0002t0007g0231 a0001c0002t0007g0235 a0001c0002t0024g0196 a0001c0002t0025g0191 a0001c0002t0026g0172 a0001c0002t0027g0219 a0001c0002t0028g0180 a0003c0005t0002g0189 a0004c0003t0007g0237	162	274	0.5912	0	c.555 others(5): Show c.555+7T>A		CA5B	ENSG00000169239.14	transcript	ENST00000318636.8	protein_coding	5/7					chrX	TogoVar
CA5B_chrX_15733270_15793411	15782477	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(98): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02683.hp2 HG02886.hp2 HG03130.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19075.hp1 NA19077.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0005 a0004c0003 a0001c0002 a0003c0005 a0004c0003	a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 others(7): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0003c0005t0002 a0004c0003t0007	a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 others(93): Show a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0054 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0085 a0001c0002t0002g0112 a0001c0002t0002g0117 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0256 a0001c0002t0004g0009 a0001c0002t0004g0060 a0001c0002t0004g0176 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0201 a0001c0002t0004g0202 a0001c0002t0004g0205 a0001c0002t0004g0218 a0001c0002t0004g0232 a0001c0002t0004g0240 a0001c0002t0007g0165 a0001c0002t0007g0206 a0001c0002t0007g0224 a0001c0002t0007g0231 a0001c0002t0007g0235 a0001c0002t0024g0196 a0001c0002t0025g0191 a0001c0002t0026g0172 a0001c0002t0027g0219 a0001c0002t0028g0180 a0003c0005t0002g0189 a0004c0003t0007g0237	101	274	0.3686	0	c.775 others(5): Show c.775-8A>G		CA5B	ENSG00000169239.14	transcript	ENST00000318636.8	protein_coding	7/7					chrX	TogoVar
CA6_chr1_8940868_8980092	8951973	CCACGCCC others(5462): Show CCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGCGGTTTTGTCATA CTGGCCAGTCTGGTCTCGAACTCCTTGCCTCAAGTGCTCTGCCCACCTTG GCCTCCCAAAGTGCTAGGATTACAGGCACGAGCCACCAAGGCTGGCCATA ATTCCATTTTTCGATGTAAAGGGTTTTTTTCTGAGATGGAGTCTCACTCT GTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCT GCCTCCTAGGGTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGATGGG ACTACAGGCGCACACCACCACCCCCAGCTAATTTTTGTATTTTTTGTAGA GATGGGGTTTCAGCATGTTGGCCTGGCTGGTCTCGAACTCCTGACCTCAA GTGATCCGCCCACCTTGGCCTCCCAAAGTGTTGAGATTATATGCATAAGC CACCGTGCCCAGCCTGATATAAAGTATTTTGAAAGATTTTTATAATTTAG CTTTTGAAGTTATTTGGCTATTGCCATTGGCTACTTTTCAGCAAGCTCCA AGCACATTCAGGAATTCTACTGAAGGGGGAAAAAAAGCTAATCTACAAAC TTTGAATCTAATGAGATTTTGATGAACACTAAGCTTAACAGTAAAGTTGA CATGACGTATTAAAGATTTGTTAATTTTTGGTTTTGCAAGGTTCTTTTAT TTGAGACGAAGTCGTGCCCTGTAGCCCAGGCTGGAGTGCGGTGGCGCGAT CTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAATCAATTCTCCTGCCT CAGCCTCCTCAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTA ATTTTTGTATTTCTAGTACAGACAGGGTGTCACCATGTTGGCCAGGCTGG TCTCAAACTCCTGACCTCAAGTCATCCGCCCACTTCGGCCTCCCAAAGTG CTGGGATTACAGGCATGAGCCACCATGCCCAGTCAGGTTTTGAAAGGTTT CTAATCACATGTATCGAGCAATCATTTCAGTGTCATGAAAATCCTGTGTT CCACCTGTTCATCTTTCCCTTCCTTCCTAAACCCTGGCAATCACTGATCT TTTTATTTGACCTATAGTTTTTCCTCTTCCAAAATGTCATATGGTTGGAA TCACACAGCATGTAGCCTTTTCACATTGGCTTCTTTCACTTAGCAATATG CATTTAAGTTTCCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTT CAGTGCTGAATATTCTATTGCCTGGATGAACCAGTTTATCCATTCACCTA TCCAAAGACATCCGGGCTGCTTCTCAGTTTTGGCAGTTATGAATAAAGCT GTTATAAAACCCATATGCAGGCCAGGCATGGTGGCTCATGCCTGTAACCC CAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAACCCAGGAATTTG AGACCAGCCTGGGCAATGTAGTGAGACCTACGAAAGTAATAAAAAAATTA GCCTGGCATGGTGGCTCAAACATACAGTCCTGGCTACATAGGAGGTTGAG GTGCGAGGCTCACTTGAGCAGCTTGGGAGGTCAAGGCTGCAGTGAGCTAT GATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTCTCTCA ATCAATCAATCAATCAGTCAATCAATCAATCAATCAATTCCATGTGTAGG TTTGTGTGTTTTCAGTCCATGTGGGTAATTACCAAGAGCTTGCTTGATCG TATAGTAATGTCAGAGGCGTTTGAACCAGAGTGACCCCATCTTGAATAGG GGGTGGGTAAGATAAGGTTGAGACCTACTGGACTGCACTCCCAGGAGGTT AAGGCATTCTCAGTCACAGGATGAGATAGGAGGTTGGCACAAGATACAGG TCATAAAGCTTGCTGATAAAACAGGTTGCAGTAAAGAAGCCTGACAAATC CTACCAAAATCAAGATGGCCACGAGAGTGACCTCCAGTTGTCCTCACTGC TACAGTCCCACTAGTGCTATGACAGTTTACATATGACATGGCAACGTCAG GAAGTTACCCTATGTGGTCTAAAAAGGGGAGGCATGAATAATACACCCCT TGTTTAGCATATAATTAAGACATAACCATAAAAACGGGCAACCAGCTGCC CTTGGGGCTGCTCTGCCTGTGGAGCAGCCATTCTTTATTCCACTACTTCC GTTTTTTTTTTTTTTTGGAGACAGAATCTTGCTCTGAGGCTGGAGTGCAG TGGTGCTACCTTGGCTCCCTGCAACCTCTGCCTCCTGGTTCAAGTGATTC TCGTGCCTCAGCCTCCCAAGTAGCTGGGTTTACAGGCATGCACCACCATG CTCCATTAAGTTTTATAATTTTAGTAAAGACGGGGTTTCGCCATGTCGGC CAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCTTCGGCCTC CCAAAGTGCTGGGATTACAGGTGTGAGGCACTGCGCCTGGCCTATTCCTT TATTTTCTTAATAAACTTGCTTTCACTTTATTCTGTGGACTCACCCCAAA TTCTTTCTTGTGTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGA CCGGTTTTTGGTAACATATAGACCAAGTTGGAAATAATTGACATTGAGAT AGTATTAAGTCTTCCTATCTGTGAACATGGAATATTTCTCCACTTATTTA GTTCTTCCTGATTTATTTCATTAGTTTTGTGATTTTCCTTATATAGATTT TGTCCATATTTTTGGGTTATTTTTGTATTTTTAGTAGAGACGAGGTTTCG CCATGTTGGCTAGGTTGGTCTTGAACCCCTGACCTCAGGTGATCTGCCTG CCTTGGCCTCCTAAATTGCTAGGATTACAGGTGTGAGCTGCCGGGCCTGG CCTCCTCATTTTAAAATTAAATTTAAATTAGATTCAACATTTCAATAAAG AGAAATTCAAATTGAAACACAGGCTGTTGAAACAAAGACAAGTTGCTACA AAATTTCTAAAATGAACTCCCAATTTCTCTGTTTTGGTGCAGACTAGTAA CAGTTGGTGGGCCGGCACTGATCCATTAATATATATTGCCCAGGTGCCGG CACTGATCCATTAATATATATTGCCCAGGTGCCGTGGCTCACCTATAATC CCAGCACTTTGAGAGGCCAAGGCAGGTGGATTGCTTGAGCCCAGGAGTTT CAGACCAGCCTGGGCAACATGGTGAAATTCTGTCTCTACAAATAAACTTA AAAATTAGCTGGACATGGTGGTGTGTGCCTGTAGTCCCTGCTACTTGAGG GGCTGAGGCAGGAGGATTGTTTGAGCCTGGGAGGTCGAGGCTGCAGTGAG CTGAGGTCATGCCACTGCACTCCAGGCTGGGTGACAGAGTAAGACCCTGC CTCAATTAAAATCTTTTTTAAAAAGCACAGTAACAGGCTCAGGGTTGTGG CTCTTTTCCAATTGGGCCTGTGTGGGCCTGTCAGTGTAACCAGAAGTAAC ACATTCCGTCTCCCGGGAGCTGTGTTTTGGGGAAATTGTGAGGACCTCTC TCATTTCTCCTGTGGTGCTTACTGTCCATTTAGGGAGCTCTGCTCGGGTC CTCAGCTCCTCGGCTCCCGTCTGCTTTCAGCATCACTGACCTTGCACGCC TCCTTTTAAGGCCCTTCCACGCCTCCTTTTAAGGCCCTTCCGTCCTTTTC TTGCAAGCATTGATTTTTGAGGCCAGCTACATCTCAAGCTCTAAATACAG AGCATTTGTTCTGCCAAACAGCCGGTGAAAACCTTTCAGGCCGGATTACT GCATTATAGCACATTACGTTATGAATTTAATCATAGCTCCCCGCTCCTTT AGACAATTTGGAAAGAAAGAGGGGGCACGTGACAGGTTTTAAATACCTCA TATTTGCTATCTTTTAAGAAAATGTTCTTGTTTACAGCCACCATTGATGA CTTTAAATAGGAAGATCTTGCCAGGCGCAGTGGCTCGCGCCTATAATCCC AGCACTCTGGGAGGCTGAGGAGGTTGGATCACTTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAA ATTAGCCGGGCATGGTGGCATATGCCTGTAATCCCAGCTACTGGGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCT AGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTC AAAATAAATAAATAGGAAGATCTTGCTCATGAGACACATGCTGCCTTTCC AACGCCGAAATTATATCCTCATAGATATTTTTCTTAGTCACTTTTCTTAG TAACTGAGCCCGTTTTTTTCTTTTTGTGTAGTTCATTCCAAAAGGCAGAG ATTTCAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAG GCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCGTAACC AATATGGTGAAACACTGTCTCTACTAAAAACACAAAAATTAGCCAGGCAT GGTGGCGGGCACCTGTAGTTCCAGCTACTCGGGAGGCTGAGGTGATAGGA TCCCTTGAAGCCAGGAGTTGGAGGCTGCAGTGAGTTGCTGCAGCAAGTCA TCGTGGTGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGCATGAAAAAA AACAAAGAAAAGAAAACAGTTCTAAGAGGCCCCACTTCCTATTCTTATAC CTTCGGCAAATTCCAAACTTGGCCAGAGATAGAGAGTAGAATTCTAGTTT CCAAGCCCATTGGCCATAATTTTTCAGGACCTTCCCTTTCCCTGGGGCCA GCAAGCTGGACCTGCCACTGTGTGGTCCTGCCTCTGGCCTGTTGGTTCTG GGCGGGAAGGAGCGTGCTGGGGAGAGGCACTTGCCCAGCCTGGTTTACTT AGTGCCTGGCCTCCATCCTGACCTCACCCTGTGCCCTGTGCGCAAACGCC TCTTCTCCTTTGGTGACCCTGCCCATGGCATTCTAAGCCAGTCTATGGTA TTGGCTTGCCCTGGGCTCAGACAGGTGGGAGGTGAGCAGAGAAGCTACCC AGCCTGTAGGCCTGACCCCTCTGTGTTCACCTACTCTGCTCTCAGCCCCA CCTTGTCTCTCCAGTGCAGATCAGCCTGCCCTCCACCATGCGCATGACAG TGGCTGACGGCACTGTATACATAGCCCAGCAGATGCACTTTCACTGGGGA GGTGCGTCCTCGGAGATCAGCGGCTCTGAGCACACCGTGGACGGGATCAG ACATGTGATCGAGGTACCTGAGGACCCCCACTGTGTCCTCTTTCCTTTGA ACCCCATAGTCACTTTTCTTTTTATTTATTTATTTTGAGACAGAGTCTCG CTCTGTTGCCCCGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAC CTCCGCCTTCTGGGTTCAAG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03239.hp1 HG03239.hp1	a0013 a0013	a0013c0033 a0013c0033	a0013c0033t0001 a0013c0033t0001	a0013c0033t0001g0116 a0013c0033t0001g0116	1	452	0.0022	-5469	c.259 others(16): Show c.259+2534_408+159del		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	3/8				INFO_REALIGN_3_PRIME	chr1	TogoVar
CA8_chr8_60180412_60286400	60189989	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(97): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA18997.hp1 NA19000.hp2 NA19004.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19068.hp1 NA19072.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0049 others(11): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0049 a0001c0002t0005 a0001c0002t0021 a0001c0002t0023 a0001c0002t0030 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0003t0006 a0001c0003t0026 a0001c0005t0021	a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 others(96): Show a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0297 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0006g0028 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0055 a0001c0001t0006g0067 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0073 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0049g0264 a0001c0002t0005g0095 a0001c0002t0005g0096 a0001c0002t0005g0097 a0001c0002t0005g0101 a0001c0002t0005g0103 a0001c0002t0005g0110 a0001c0002t0005g0130 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0133 a0001c0002t0005g0141 a0001c0002t0005g0149 a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0153 a0001c0002t0005g0159 a0001c0002t0005g0163 a0001c0002t0005g0164 a0001c0002t0005g0168 a0001c0002t0005g0170 a0001c0002t0005g0176 a0001c0002t0005g0178 a0001c0002t0005g0187 a0001c0002t0005g0189 a0001c0002t0005g0198 a0001c0002t0005g0199 a0001c0002t0005g0200 a0001c0002t0021g0090 a0001c0002t0023g0202 a0001c0002t0023g0205 a0001c0002t0030g0089 a0001c0002t0034g0139 a0001c0002t0035g0193 a0001c0002t0036g0098 a0001c0002t0037g0126 a0001c0003t0006g0002 a0001c0003t0006g0018 a0001c0003t0006g0024 a0001c0003t0006g0026 a0001c0003t0006g0027 a0001c0003t0006g0029 a0001c0003t0006g0030 a0001c0003t0006g0031 a0001c0003t0006g0032 a0001c0003t0026g0033 a0001c0005t0021g0091	100	344	0.2907	0	c.36 others(5): Show c.36-4G>A		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8					chr8	TogoVar
CA8_chr8_60180412_60286400	60226868	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 NA20129.hp1 HG01884.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0006 a0001c0005t0021 a0001c0003t0006 a0001c0005t0021	a0001c0003t0006g0018 a0001c0005t0021g0091 a0001c0003t0006g0018 a0001c0005t0021g0091	2	344	0.0058	0	c.576 others(5): Show c.576+5G>A		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	5/8					chr8	TogoVar
CA9_chr9_35668928_35686159	35676291	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02071.hp1 NA18947.hp2 NA18959.hp1 others(3): Show HG02071.hp1 NA18947.hp2 NA18959.hp1 NA19003.hp1 NA19004.hp2 NA19082.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0003 a0004c0005t0001 a0004c0005t0003	a0004c0005t0001g0020 a0004c0005t0003g0075 a0004c0005t0001g0020 a0004c0005t0003g0075	6	446	0.0135	0	c.748 others(5): Show c.748-6T>C		CA9	ENSG00000107159.14	transcript	ENST00000378357.9	protein_coding	4/10					chr9	TogoVar
CA9_chr9_35668928_35686159	35677783	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	446	0.0022	0	c.841 others(5): Show c.841-7C>A		CA9	ENSG00000107159.14	transcript	ENST00000378357.9	protein_coding	5/10					chr9	TogoVar
CAB39_chr2_230707842_230826075	230814050	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0178 a0003c0003t0012g0178	1	342	0.0029	0	c.629 others(3): Show c.629T>A	p.Phe others(6): Show p.Phe210Tyr	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	7/9	1061/3829	629/1026	210/341		chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61686191	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	374	0.0027	0	c.479 others(5): Show c.479+6G>C		CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	4/7					chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61690621	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp2 HG00639.hp2 HG01074.hp2 others(15): Show HG00280.hp2 HG00639.hp2 HG01074.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 NA18949.hp1 NA18969.hp1 NA18984.hp2 NA18990.hp2 NA18997.hp1 NA19001.hp1 NA19063.hp2 NA19070.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0304 a0001c0003t0002g0310 others(14): Show a0001c0003t0002g0008 a0001c0003t0002g0304 a0001c0003t0002g0310 a0001c0003t0002g0318 a0001c0003t0002g0319 a0001c0003t0002g0322 a0001c0003t0002g0323 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0328 a0001c0003t0002g0329 a0001c0003t0002g0334 a0001c0003t0002g0338 a0001c0003t0002g0340 a0001c0003t0002g0342 a0001c0003t0002g0345	18	374	0.0481	0	c.552 others(3): Show c.552G>A	p.Glu others(6): Show p.Glu184Glu	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/8	596/1688	552/891	184/296		chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61760055	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	374	0.0027	0	c.553 others(5): Show c.553-4T>A		CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7					chr10	TogoVar
CABIN1_chr22_24006304_24183628	24076165	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	268	0.0037	0	c.263 others(6): Show c.2633-4C>T		CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	18/36					chr22	TogoVar
CABLES1_chr18_23130485_23265470	23253070	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	278	0.0036	0	c.155 others(6): Show c.1553+4C>T		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	8/9					chr18	TogoVar
CABLES2_chr20_62383634_62412285	62388634	T T	C C	splice_region_variant splice_region_variant	LOW	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0166 a0001c0001t0016g0166	1	400	0.0025	0	c.23 others(5): Show c.2337A>G		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	10/10					chr20	TogoVar
CABLES2_chr20_62383634_62412285	62396513	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	400	0.0025	0	c.434 others(5): Show c.434+8C>G		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	2/9					chr20	TogoVar
CABP4_chr11_67450354_67466752	67456449	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(199): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp2 NA18975.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18993.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19082.hp1 NA19083.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(35): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0002t0002 a0001c0002t0023 a0001c0002t0029	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0003g0002 others(51): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0012 a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0020 a0001c0001t0005g0004 a0001c0001t0005g0007 a0001c0001t0005g0021 a0001c0001t0006g0004 a0001c0001t0006g0007 a0001c0001t0006g0009 a0001c0001t0008g0002 a0001c0001t0009g0009 a0001c0001t0010g0002 a0001c0001t0010g0003 a0001c0001t0010g0008 a0001c0001t0012g0010 a0001c0001t0012g0015 a0001c0001t0013g0003 a0001c0001t0013g0008 a0001c0001t0014g0003 a0001c0001t0014g0008 a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0016g0002 a0001c0001t0018g0007 a0001c0001t0019g0004 a0001c0001t0022g0004 a0001c0001t0023g0005 a0001c0001t0025g0004 a0001c0001t0027g0006 a0001c0001t0030g0005 a0001c0001t0033g0004 a0001c0001t0035g0002 a0001c0001t0036g0002 a0001c0001t0037g0003 a0001c0001t0038g0002 a0001c0001t0040g0016 a0001c0001t0041g0007 a0001c0001t0042g0007 a0001c0001t0043g0004 a0001c0001t0044g0009 a0001c0001t0046g0009 a0001c0001t0047g0009 a0001c0001t0053g0015 a0001c0001t0054g0003 a0001c0001t0055g0002 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0023g0006 a0001c0002t0029g0006	202	368	0.5489	0	c.541 others(5): Show c.541+7C>G		CABP4	ENSG00000175544.14	transcript	ENST00000325656.7	protein_coding	3/5					chr11	TogoVar
CABP4_chr11_67450354_67466752	67456450	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(199): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp2 NA18975.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18993.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19082.hp1 NA19083.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(35): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0002t0002 a0001c0002t0023 a0001c0002t0029	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0003g0002 others(51): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0012 a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0020 a0001c0001t0005g0004 a0001c0001t0005g0007 a0001c0001t0005g0021 a0001c0001t0006g0004 a0001c0001t0006g0007 a0001c0001t0006g0009 a0001c0001t0008g0002 a0001c0001t0009g0009 a0001c0001t0010g0002 a0001c0001t0010g0003 a0001c0001t0010g0008 a0001c0001t0012g0010 a0001c0001t0012g0015 a0001c0001t0013g0003 a0001c0001t0013g0008 a0001c0001t0014g0003 a0001c0001t0014g0008 a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0016g0002 a0001c0001t0018g0007 a0001c0001t0019g0004 a0001c0001t0022g0004 a0001c0001t0023g0005 a0001c0001t0025g0004 a0001c0001t0027g0006 a0001c0001t0030g0005 a0001c0001t0033g0004 a0001c0001t0035g0002 a0001c0001t0036g0002 a0001c0001t0037g0003 a0001c0001t0038g0002 a0001c0001t0040g0016 a0001c0001t0041g0007 a0001c0001t0042g0007 a0001c0001t0043g0004 a0001c0001t0044g0009 a0001c0001t0046g0009 a0001c0001t0047g0009 a0001c0001t0053g0015 a0001c0001t0054g0003 a0001c0001t0055g0002 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0023g0006 a0001c0002t0029g0006	202	368	0.5489	0	c.541 others(5): Show c.541+8A>C		CABP4	ENSG00000175544.14	transcript	ENST00000325656.7	protein_coding	3/5					chr11	TogoVar
CABP4_chr11_67450354_67466752	67458626	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG01496.hp2 NA20129.hp2 HG00099.hp2 HG01496.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	3	368	0.0082	0	c.800 others(5): Show c.800-5C>T		CABP4	ENSG00000175544.14	transcript	ENST00000325656.7	protein_coding	5/5					chr11	TogoVar
CABP5_chr19_48024383_48049079	48039325	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0261 a0001c0001t0015g0261	1	376	0.0027	0	c.239 others(5): Show c.239-8T>C		CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	3/5					chr19	TogoVar
CABP5_chr19_48024383_48049079	48040605	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0008	a0001c0001 a0001c0005 a0003c0004 others(3): Show a0001c0001 a0001c0005 a0003c0004 a0005c0008 a0007c0015 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0038 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0062 a0001c0001t0063 a0001c0001t0072 a0001c0005t0029 a0001c0005t0030 a0001c0005t0059 a0001c0005t0060 a0001c0005t0061 a0003c0004t0011 a0003c0004t0012 a0003c0004t0014 a0003c0004t0018 a0003c0004t0032 a0003c0004t0033 a0003c0004t0034 a0003c0004t0065 a0003c0004t0067 a0003c0004t0068 a0003c0004t0069 a0003c0004t0070 a0003c0004t0071 a0005c0008t0004 a0005c0008t0009 a0005c0008t0010 a0005c0008t0064 a0007c0015t0073 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(199): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0258 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0036 a0001c0001t0002g0172 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0231 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0086 a0001c0001t0003g0104 a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0130 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0157 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0199 a0001c0001t0003g0267 a0001c0001t0005g0022 a0001c0001t0005g0093 a0001c0001t0005g0110 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0124 a0001c0001t0005g0129 a0001c0001t0005g0131 a0001c0001t0005g0134 a0001c0001t0005g0151 a0001c0001t0005g0159 a0001c0001t0005g0249 a0001c0001t0007g0021 a0001c0001t0007g0026 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0128 a0001c0001t0007g0133 a0001c0001t0007g0136 a0001c0001t0007g0139 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0169 a0001c0001t0007g0230 a0001c0001t0011g0090 a0001c0001t0011g0168 a0001c0001t0012g0091 a0001c0001t0012g0092 a0001c0001t0015g0175 a0001c0001t0015g0261 a0001c0001t0015g0272 a0001c0001t0015g0277 a0001c0001t0018g0089 a0001c0001t0019g0278 a0001c0001t0019g0279 a0001c0001t0020g0120 a0001c0001t0020g0156 a0001c0001t0020g0163 a0001c0001t0022g0291 a0001c0001t0023g0158 a0001c0001t0023g0160 a0001c0001t0031g0085 a0001c0001t0031g0251 a0001c0001t0038g0030 a0001c0001t0042g0167 a0001c0001t0044g0276 a0001c0001t0045g0166 a0001c0001t0046g0268 a0001c0001t0047g0246 a0001c0001t0049g0132 a0001c0001t0062g0150 a0001c0001t0063g0253 a0001c0001t0072g0135 a0001c0005t0029g0182 a0001c0005t0029g0186 a0001c0005t0030g0184 a0001c0005t0030g0187 a0001c0005t0059g0185 a0001c0005t0060g0183 a0001c0005t0061g0180 a0003c0004t0011g0201 a0003c0004t0011g0202 a0003c0004t0011g0204 a0003c0004t0011g0206 a0003c0004t0011g0208 a0003c0004t0011g0212 a0003c0004t0012g0046 a0003c0004t0012g0196 a0003c0004t0012g0197 a0003c0004t0012g0215 a0003c0004t0014g0032 a0003c0004t0014g0200 a0003c0004t0014g0203 a0003c0004t0014g0220 a0003c0004t0018g0209 a0003c0004t0018g0210 a0003c0004t0018g0211 a0003c0004t0032g0198 a0003c0004t0032g0213 a0003c0004t0033g0214 a0003c0004t0033g0221 a0003c0004t0034g0087 a0003c0004t0034g0216 a0003c0004t0065g0205 a0003c0004t0067g0217 a0003c0004t0068g0218 a0003c0004t0069g0219 a0003c0004t0070g0207 a0003c0004t0071g0250 a0005c0008t0004g0252 a0005c0008t0009g0290 a0005c0008t0010g0289 a0005c0008t0064g0078 a0007c0015t0073g0179 a0008c0012t0001g0041	266	376	0.7075	0	c.238 others(3): Show c.238C>T	p.Leu others(5): Show p.Leu80Leu	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	3/6	395/1853	238/522	80/173		chr19	TogoVar
CABP5_chr19_48024383_48049079	48043861	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19074.hp1 NA19074.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0041 a0008c0012t0001g0041	1	376	0.0027	0	c.62G others(2): Show c.62G>A	p.Arg others(5): Show p.Arg21Gln	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/6	219/1853	62/522	21/173		chr19	TogoVar
CABP7_chr22_29715003_29736833	29727813	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02257.hp2 HG03130.hp1 others(2): Show HG01891.hp2 HG02257.hp2 HG03130.hp1 HG03486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0024 a0001c0001t0009 a0001c0001t0024	a0001c0001t0009g0027 a0001c0001t0024g0101 a0001c0001t0009g0027 a0001c0001t0024g0101	5	438	0.0114	0	c.253 others(5): Show c.253+8C>T		CABP7	ENSG00000100314.4	transcript	ENST00000216144.4	protein_coding	2/4					chr22	TogoVar
CABP7_chr22_29715003_29736833	29728625	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(210): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0071 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0097 a0001c0001t0003g0105 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0007g0021 a0001c0001t0007g0116 a0001c0001t0008g0030 a0001c0001t0008g0104 a0001c0001t0011g0035 a0001c0001t0013g0001 a0001c0001t0016g0039 a0001c0001t0018g0003 a0001c0001t0019g0056 a0001c0001t0020g0061 a0001c0001t0026g0001 a0001c0002t0001g0076	213	438	0.4863	0	c.254 others(5): Show c.254-5A>T		CABP7	ENSG00000100314.4	transcript	ENST00000216144.4	protein_coding	2/4					chr22	TogoVar
CABP7_chr22_29715003_29736833	29729043	CCCCT CCCCT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp2 HG01891.hp1 HG02055.hp2 others(1): Show HG01496.hp2 HG01891.hp1 HG02055.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0104 a0001c0001t0008g0030 a0001c0001t0008g0104	4	438	0.0091	-4	c.367 others(15): Show c.367-9_367-6delCTCC		CABP7	ENSG00000100314.4	transcript	ENST00000216144.4	protein_coding	3/4				INFO_REALIGN_3_PRIME	chr22	TogoVar
CABYR_chr18_24134062_24166600	24155644	TTCTTCTC others(685): Show TTCTTCTCTAAAAATCTTTTTAGATGTTAATTAACCCATCTGGTTGTTGT TTTTCAGTAGAGAAATGGTCAGAAGGAACGACACCACAGAAGAAATTAGA ATGTTTAAAAGAACCAGGAAAAACATCTGTAGAATCTAAAGTACCTACCC AGATGGAAAAATCTACAGACACAGACGAGGACAATGTAACCAGAACAGAA TATAGTGACAAAACCACCCAGTTTCCATCAGTTTATGCTGTGCCAGGCAC TGAGCAAACGGAAGCAGTTGGTGGTCTTTCTTCCAAACCAGCCACCCCTA AGACTACTACCCCACCCTCATCACCACCTCCAACAGCTGTCTCACCAGAG TTTGCCTACGTCCCAGCTGACCCAGCTCAGCTTGCTGCTCAGATGTTAGG TAAAGTTTCATCTATTCATTCTGATCAATCTGATGTGTTAATGGTGGATG TGGCAACCAGTATGCCTGTTGTTATCAAGGAGGTGCCAAGCTCAGAGGCT GCTGAAGATGTCATGGTGGCTGCTCCTCTTGTGTGTTCTGGAAAGGTGCT AGAAGTGCAGGTTGTGAACCAAACATCTGTCCATGTAGATTTGGGTTCTC AACCTAAAGAAAATGAGGCTGAACCATCAACGGCTTCCTCAGTCCCCTTG CAGGATGAACAAGAACCTCCTGCTTATGATCAAGCTCCTGAGG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01934.hp1 HG01934.hp1	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0001 a0007c0030t0001	a0007c0030t0001g0121 a0007c0030t0001g0121	1	408	0.0025	-692	c.200 others(14): Show c.200-54_541+296del		CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr18	TogoVar
CABYR_chr18_24134062_24166600	24160067	CTG CTG	C C	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	HG01884.hp2 HG02559.hp1 HG02723.hp2 others(7): Show HG01884.hp2 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2	a0003 a0003	a0003c0012 a0003c0015 a0003c0033 a0003c0012 a0003c0015 a0003c0033	a0003c0012t0001 a0003c0015t0001 a0003c0033t0001 a0003c0012t0001 a0003c0015t0001 a0003c0033t0001	a0003c0012t0001g0015 a0003c0012t0001g0104 a0003c0012t0001g0105 others(5): Show a0003c0012t0001g0015 a0003c0012t0001g0104 a0003c0012t0001g0105 a0003c0015t0001g0155 a0003c0015t0001g0156 a0003c0015t0001g0157 a0003c0015t0001g0163 a0003c0033t0001g0127	10	408	0.0245	-2	c.113 others(11): Show c.1138_1139delTG	p.Ter others(5): Show p.Ter380fs	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	5/6	1219/1305	1138/1140	380/379		chr18	TogoVar
CACNA1A_chr19_13201442_13511479	13209496	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02896.hp1 HG03516.hp2 HG06807.hp2 others(1): Show HG02896.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp2	a0003 a0021 a0003 a0021	a0003c0035 a0003c0084 a0021c0092 a0003c0035 a0003c0084 a0021c0092	a0003c0035t0016 a0003c0035t0024 a0003c0084t0016 others(1): Show a0003c0035t0016 a0003c0035t0024 a0003c0084t0016 a0021c0092t0016	a0003c0035t0016g0076 a0003c0035t0024g0005 a0003c0084t0016g0145 others(1): Show a0003c0035t0016g0076 a0003c0035t0024g0005 a0003c0084t0016g0145 a0021c0092t0016g0203	4	218	0.0184	0	c.634 others(4): Show c.6342C>G	p.Thr others(7): Show p.Thr2114Thr	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	45/47	6597/8647	6342/7521	2114/2506		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13308257	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0003 a0002c0019t0003	a0002c0019t0003g0009 a0002c0019t0003g0009	1	218	0.0046	0	c.178 others(6): Show c.1782-6C>T		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	13/46					chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13308417	T T	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02647.hp1 HG02647.hp1	a0023 a0023	a0023c0113 a0023c0113	a0023c0113t0013 a0023c0113t0013	a0023c0113t0013g0096 a0023c0113t0013g0096	1	218	0.0046	0	c.178 others(4): Show c.1780A>T	p.Lys others(4): Show p.Lys594*	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	13/47	2035/8647	1780/7521	594/2506		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137952266	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0037 a0001c0002t0008 a0001c0002t0037	a0001c0002t0008g0241 a0001c0002t0037g0242 a0001c0002t0008g0241 a0001c0002t0037g0242	2	248	0.0081	0	c.967 others(5): Show c.967-8G>A		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46					chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137956763	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0208 a0002c0001t0001g0209	2	248	0.0081	0	c.118 others(6): Show c.1187-8C>T		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	8/46					chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137986862	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(135): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0007 others(9): Show a0001 a0002 a0007 a0008 a0009 a0014 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0002 a0001c0003 a0001c0005 others(28): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0022 a0001c0032 a0001c0041 a0001c0044 a0001c0048 a0001c0050 a0001c0051 a0001c0053 a0002c0001 a0002c0004 a0002c0008 a0007c0016 a0008c0019 a0009c0021 a0014c0031 a0015c0049 a0016c0030 a0017c0047 a0018c0046 a0019c0045 a0020c0052	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(59): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0030 a0001c0002t0033 a0001c0002t0037 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0034 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0001c0009t0003 a0001c0012t0001 a0001c0012t0002 a0001c0012t0004 a0001c0013t0008 a0001c0013t0009 a0001c0013t0014 a0001c0013t0027 a0001c0015t0002 a0001c0015t0009 a0001c0017t0002 a0001c0017t0006 a0001c0017t0016 a0001c0018t0003 a0001c0018t0009 a0001c0018t0018 a0001c0022t0002 a0001c0022t0020 a0001c0032t0001 a0001c0041t0001 a0001c0044t0005 a0001c0048t0006 a0001c0050t0040 a0001c0051t0007 a0001c0053t0028 a0002c0001t0002 a0002c0001t0020 a0002c0004t0001 a0002c0008t0001 a0007c0016t0007 a0008c0019t0017 a0008c0019t0025 a0009c0021t0010 a0009c0021t0019 a0014c0031t0002 a0015c0049t0002 a0016c0030t0003 a0017c0047t0006 a0018c0046t0016 a0019c0045t0007 a0020c0052t0006	a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 others(135): Show a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0123 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0001g0238 a0001c0002t0002g0046 a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0073 a0001c0002t0005g0024 a0001c0002t0008g0026 a0001c0002t0008g0053 a0001c0002t0008g0065 a0001c0002t0008g0241 a0001c0002t0011g0052 a0001c0002t0013g0012 a0001c0002t0013g0128 a0001c0002t0030g0120 a0001c0002t0033g0025 a0001c0002t0037g0242 a0001c0003t0005g0006 a0001c0003t0005g0016 a0001c0003t0005g0021 a0001c0003t0005g0107 a0001c0003t0005g0130 a0001c0003t0006g0112 a0001c0003t0006g0136 a0001c0003t0007g0106 a0001c0003t0007g0111 a0001c0003t0007g0114 a0001c0003t0007g0118 a0001c0003t0010g0131 a0001c0003t0010g0132 a0001c0003t0010g0134 a0001c0003t0010g0135 a0001c0003t0034g0109 a0001c0003t0043g0127 a0001c0003t0044g0011 a0001c0003t0045g0008 a0001c0005t0004g0007 a0001c0005t0004g0028 a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0084 a0001c0005t0004g0085 a0001c0005t0004g0086 a0001c0005t0004g0087 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0091 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0005t0004g0184 a0001c0007t0001g0034 a0001c0007t0003g0027 a0001c0007t0003g0037 a0001c0007t0003g0038 a0001c0007t0003g0041 a0001c0007t0003g0043 a0001c0007t0003g0044 a0001c0007t0003g0045 a0001c0007t0003g0047 a0001c0007t0003g0056 a0001c0007t0003g0074 a0001c0007t0003g0225 a0001c0009t0003g0022 a0001c0009t0003g0092 a0001c0009t0003g0093 a0001c0009t0003g0094 a0001c0009t0003g0095 a0001c0009t0003g0096 a0001c0012t0001g0031 a0001c0012t0001g0032 a0001c0012t0001g0051 a0001c0012t0002g0050 a0001c0012t0004g0040 a0001c0013t0008g0066 a0001c0013t0009g0099 a0001c0013t0009g0203 a0001c0013t0014g0158 a0001c0013t0027g0240 a0001c0015t0002g0102 a0001c0015t0009g0080 a0001c0015t0009g0081 a0001c0017t0002g0193 a0001c0017t0006g0122 a0001c0017t0016g0119 a0001c0018t0003g0049 a0001c0018t0009g0029 a0001c0018t0018g0033 a0001c0022t0002g0001 a0001c0022t0020g0002 a0001c0032t0001g0071 a0001c0041t0001g0182 a0001c0044t0005g0239 a0001c0048t0006g0101 a0001c0050t0040g0129 a0001c0051t0007g0108 a0001c0053t0028g0105 a0002c0001t0002g0042 a0002c0001t0020g0030 a0002c0004t0001g0014 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0004t0001g0175 a0002c0004t0001g0201 a0002c0004t0001g0202 a0002c0008t0001g0174 a0007c0016t0007g0054 a0007c0016t0007g0062 a0007c0016t0007g0205 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126 a0009c0021t0010g0004 a0009c0021t0019g0003 a0009c0021t0019g0005 a0014c0031t0002g0113 a0015c0049t0002g0100 a0016c0030t0003g0097 a0017c0047t0006g0116 a0018c0046t0016g0110 a0019c0045t0007g0117 a0020c0052t0006g0115	138	248	0.5565	0	c.197 others(6): Show c.1974+8A>C		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	15/46					chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138010006	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 NA20752.hp2 HG02486.hp2 NA20752.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0011 a0005c0024t0011	a0005c0024t0011g0160 a0005c0024t0011g0162 a0005c0024t0011g0160 a0005c0024t0011g0162	2	248	0.0081	0	c.209 others(6): Show c.2093-4C>A		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	16/46					chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138010085	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19056.hp2 NA19056.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0025 a0008c0019t0025	a0008c0019t0025g0126 a0008c0019t0025g0126	1	248	0.0040	0	c.216 others(6): Show c.2160+8G>A		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	17/46					chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138075815	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0017 a0008c0019t0025 a0008c0019t0017 a0008c0019t0025	a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126	3	248	0.0121	0	c.485 others(6): Show c.4858-4G>A		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	34/46					chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138120159	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0228 a0002c0001t0002g0228	1	248	0.0040	0	c.603 others(6): Show c.6031-6C>T		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	44/46					chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2677087	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0041 a0001c0038t0041	a0001c0038t0041g0047 a0001c0038t0041g0047	1	104	0.0096	0	c.482 others(6): Show c.4829-7G>A		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	39/46					chr12	TogoVar

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