Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CLYBL_chr13_99601690_99897570	99793033	A A	AAAACACA others(7): Show AAAACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02895.hp1 others(4): Show HG01891.hp1 HG02451.hp2 HG02895.hp1 HG02896.hp2 NA18522.hp1 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0043	7	218	0.0321	14	c.249 others(33): Show c.249+20024_249+20025insAACACACACACACA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99797560	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01192.hp1 others(2): Show HG01081.hp1 HG01106.hp2 HG01192.hp1 HG01361.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0098 a0001c0001t0001g0102 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0161 a0001c0001t0001g0205	5	218	0.0229	14	c.249 others(33): Show c.249+24568_249+24581dupGTGTGTGTGTGTGT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99799377	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(82): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18947.hp2 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18998.hp1 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19077.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0010	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0010c0013	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0010c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0005t0001g0189 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0052 a0002c0002t0001g0092 a0002c0002t0001g0096 a0002c0002t0001g0191 a0003c0003t0001g0048 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0184 a0003c0003t0001g0195 a0003c0003t0001g0203 a0004c0004t0001g0130 a0004c0004t0001g0211 a0005c0006t0001g0020 a0005c0006t0001g0109 a0010c0013t0001g0118	85	218	0.3899	14	c.249 others(33): Show c.249+26370_249+26383dupCACACACACACACA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99818446	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0100 a0001c0001t0001g0180 a0002c0002t0001g0022 a0001c0001t0001g0100 a0001c0001t0001g0180 a0002c0002t0001g0022	3	218	0.0138	14	c.250 others(33): Show c.250-40390_250-40377dupACACACACACACAC	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99819416	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0033 a0004c0004t0001g0033	1	218	0.0046	14	c.250 others(33): Show c.250-39406_250-39393dupTATATATATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99819465	T T	TATATATA others(7): Show TATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02132.hp2 NA18964.hp1 others(5): Show HG01243.hp2 HG02132.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18982.hp1 NA18998.hp1 NA19077.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0088 a0001c0001t0001g0140 a0001c0001t0001g0182 others(5): Show a0001c0001t0001g0088 a0001c0001t0001g0140 a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0001g0212 a0003c0003t0001g0034 a0003c0003t0001g0048 a0003c0003t0001g0095	8	218	0.0367	14	c.250 others(33): Show c.250-39393_250-39392insTATATATATAAATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99832999	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03239.hp2 HG00673.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0137 a0002c0002t0001g0193 a0001c0001t0001g0137 a0002c0002t0001g0193	2	218	0.0092	14	c.250 others(33): Show c.250-25859_250-25858insTATATATATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMAS_chr12_22041218_22070668	22057226	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	450	0.0022	14	c.560 others(31): Show c.560-1328_560-1327insCACACACACACACA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CMAS_chr12_22041218_22070668	22060333	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18946.hp2 NA19055.hp2 others(1): Show NA18939.hp2 NA18946.hp2 NA19055.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0058 a0001c0001t0002g0072 a0001c0001t0002g0079 others(1): Show a0001c0001t0002g0058 a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0002t0001g0246	4	450	0.0089	14	c.694 others(29): Show c.694-485_694-472dupAAAAAAAAAAAAAA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CMC1_chr3_28236619_28330142	28255722	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0255 a0001c0001t0019g0255	1	338	0.0030	14	c.20- others(29): Show c.20-7550_20-7537dupACACACACACACAC	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28258060	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02615.hp2 HG04204.hp2 others(12): Show HG01928.hp2 HG02615.hp2 HG04204.hp2 NA18948.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18984.hp2 NA18989.hp2 NA19006.hp1 NA19011.hp1 NA19012.hp2 NA19066.hp2 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0035 a0001c0001t0036	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0003g0001 others(8): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0129 a0001c0001t0003g0146 a0001c0001t0003g0165 a0001c0001t0004g0306 a0001c0001t0007g0147 a0001c0001t0035g0019 a0001c0001t0036g0153	15	338	0.0444	14	c.20- others(29): Show c.20-5218_20-5205dupTATATATATATATA	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28274206	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA20905.hp1 NA20905.hp2 NA18954.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0196 a0001c0001t0001g0252 a0001c0001t0001g0171 a0001c0001t0001g0196 a0001c0001t0001g0252	3	338	0.0089	14	c.109 others(33): Show c.109+10831_109+10832insTTTTTTTTTTTTTT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28309821	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01928.hp2 HG02897.hp2 others(1): Show HG00558.hp1 HG01928.hp2 HG02897.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0046 a0001c0001t0001g0107 a0001c0001t0001g0108 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0005g0250	4	338	0.0118	14	c.110 others(31): Show c.110-6485_110-6472dupCACACACACACACA	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80965245	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00558.hp1 others(32): Show HG00140.hp2 HG00544.hp2 HG00558.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01169.hp1 HG01261.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02683.hp1 HG03041.hp1 HG04115.hp2 HG06807.hp2 NA18945.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp2 NA18995.hp1 NA19003.hp1 NA19030.hp1 NA19066.hp2 NA19076.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 others(8): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 a0001c0001t0047 a0001c0001t0125 a0001c0001t0142 a0001c0001t0143 a0001c0001t0145 a0001c0001t0148 a0001c0001t0155 a0002c0002t0021	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0039 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0273 a0001c0001t0014g0008 a0001c0001t0018g0249 a0001c0001t0047g0050 a0001c0001t0125g0067 a0001c0001t0142g0205 a0001c0001t0143g0203 a0001c0001t0145g0224 a0001c0001t0148g0204 a0001c0001t0155g0220 a0002c0002t0021g0011	35	408	0.0858	14	c.10 others(27): Show c.10847_*10848insAAAAAAAAAAAAAA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1202		chr16	TogoVar
CMC2_chr16_80961448_81011885	80971562	T T	TTATATAT others(7): Show TTATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0067 a0002c0002t0067	a0002c0002t0067g0165 a0002c0002t0067g0165	1	408	0.0025	14	c.45 others(25): Show c.4530_*4531insTATATATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4530		chr16	TogoVar
CMC2_chr16_80961448_81011885	80971599	C C	CATATATA others(7): Show CATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18944.hp2 NA18954.hp2 NA18955.hp2 others(8): Show NA18944.hp2 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18984.hp1 NA18990.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19067.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0045 a0001c0001t0046 others(4): Show a0001c0001t0024 a0001c0001t0045 a0001c0001t0046 a0001c0001t0123 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141	a0001c0001t0024g0265 a0001c0001t0024g0267 a0001c0001t0024g0270 others(8): Show a0001c0001t0024g0265 a0001c0001t0024g0267 a0001c0001t0024g0270 a0001c0001t0045g0262 a0001c0001t0045g0264 a0001c0001t0046g0261 a0001c0001t0046g0269 a0001c0001t0123g0268 a0001c0001t0139g0266 a0001c0001t0140g0260 a0001c0001t0141g0284	11	408	0.0270	14	c.44 others(25): Show c.4493_*4494insATATATATATATAT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4493		chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02132.hp1 HG02257.hp1 others(7): Show HG02027.hp1 HG02132.hp1 HG02257.hp1 HG02683.hp1 HG03017.hp2 HG03704.hp1 NA18945.hp2 NA18984.hp1 NA18990.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018	a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0134 others(7): Show a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0134 a0001c0001t0002g0209 a0001c0001t0005g0169 a0001c0001t0007g0234 a0001c0001t0008g0072 a0001c0001t0008g0078 a0001c0001t0014g0128 a0001c0001t0018g0080	10	268	0.0373	14	c.300 others(33): Show c.300+75049_300+75062dupGAGAGAGAGAGAGA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GGGGAGAG others(7): Show GGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01891.hp1 others(18): Show HG00741.hp1 HG01081.hp1 HG01891.hp1 HG02451.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp2 HG04184.hp2 NA18960.hp2 NA18983.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0029 a0001c0008t0013	a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0066 others(18): Show a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0002g0240 a0001c0001t0004g0111 a0001c0001t0006g0127 a0001c0001t0006g0185 a0001c0001t0006g0210 a0001c0001t0029g0179 a0001c0008t0013g0177	21	268	0.0784	14	c.300 others(33): Show c.300+75029_300+75030insGGAGAGAGAGAGAG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81626218	C C	CGTGAGAA others(7): Show CGTGAGAATGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(91): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG02004.hp2 HG02027.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18945.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18960.hp2 NA18964.hp2 NA18967.hp1 NA18973.hp2 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18991.hp1 NA18995.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp1 NA19060.hp1 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0041 a0001c0001t0042 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0002t0004 a0001c0006t0001 a0001c0007t0005 a0002c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0019 others(91): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0248 a0001c0001t0003g0089 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0143 a0001c0001t0003g0266 a0001c0001t0004g0103 a0001c0001t0004g0111 a0001c0001t0004g0160 a0001c0001t0005g0023 a0001c0001t0005g0050 a0001c0001t0005g0054 a0001c0001t0005g0096 a0001c0001t0005g0169 a0001c0001t0006g0210 a0001c0001t0007g0226 a0001c0001t0007g0239 a0001c0001t0008g0078 a0001c0001t0009g0132 a0001c0001t0010g0006 a0001c0001t0011g0115 a0001c0001t0014g0128 a0001c0001t0015g0218 a0001c0001t0016g0236 a0001c0001t0018g0080 a0001c0001t0021g0157 a0001c0001t0022g0181 a0001c0001t0023g0264 a0001c0001t0025g0191 a0001c0001t0027g0101 a0001c0001t0028g0083 a0001c0001t0030g0152 a0001c0001t0041g0220 a0001c0001t0042g0233 a0001c0001t0048g0074 a0001c0001t0050g0082 a0001c0001t0051g0085 a0001c0002t0004g0162 a0001c0006t0001g0065 a0001c0007t0005g0190 a0002c0004t0001g0259	94	268	0.3508	14	c.477 others(31): Show c.477+5293_477+5306dupGTGAGAATGTGTGT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81640738	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	268	0.0037	14	c.478 others(33): Show c.478-11445_478-11432dupGTGTGTGTGTGTGT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81640770	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTCTC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	268	0.0037	14	c.478 others(33): Show c.478-11432_478-11431insGTGTGTGTGTCTCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81640770	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00738.hp1 others(28): Show HG00140.hp2 HG00597.hp1 HG00738.hp1 HG01081.hp1 HG01243.hp2 HG01257.hp2 HG01358.hp1 HG01496.hp1 HG02027.hp1 HG02132.hp1 HG02135.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03704.hp2 HG04184.hp1 NA18945.hp1 NA18945.hp2 NA18960.hp2 NA18964.hp2 NA18967.hp2 NA18975.hp2 NA19009.hp2 NA19010.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0041 a0001c0001t0047 a0001c0001t0051 a0001c0006t0001 a0002c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0056 others(28): Show a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0093 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0260 a0001c0001t0002g0211 a0001c0001t0002g0223 a0001c0001t0002g0240 a0001c0001t0003g0089 a0001c0001t0003g0143 a0001c0001t0005g0023 a0001c0001t0005g0054 a0001c0001t0007g0229 a0001c0001t0008g0078 a0001c0001t0011g0115 a0001c0001t0014g0128 a0001c0001t0018g0080 a0001c0001t0019g0068 a0001c0001t0023g0264 a0001c0001t0027g0101 a0001c0001t0041g0220 a0001c0001t0047g0075 a0001c0001t0051g0085 a0001c0006t0001g0065 a0002c0004t0001g0259	31	268	0.1157	14	c.478 others(33): Show c.478-11432_478-11431insGTGTGTGTGTGTCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667799	A A	AGAGAGTG others(7): Show AGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	268	0.0037	14	c.826 others(31): Show c.826-2342_826-2341insAGAGTGTGTGTGTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172705	C C	CGGGAGAG others(7): Show CGGGAGAGGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	322	0.0031	14	c.34 others(25): Show c.3474_*3475insTCTCCCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2610		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206173132	A A	AGGGAGAG others(7): Show AGGGAGAGGGGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0231 a0002c0004t0001g0231	1	322	0.0031	14	c.30 others(25): Show c.3047_*3048insGTCTCCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2183		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206174106	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	322	0.0031	14	c.20 others(25): Show c.2073_*2074insAAAAAAAAAAAAAA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		1209		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206207728	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20129.hp2 NA20300.hp1 HG03225.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0127 a0001c0001t0001g0222 a0002c0003t0003g0035 a0001c0001t0001g0127 a0001c0001t0001g0222 a0002c0003t0003g0035	3	322	0.0093	14	c.-29 others(31): Show c.-29+5565_-29+5578dupAAAAAAAAAAAAAA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding	1/1			chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206214165	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01123.hp1 HG01361.hp1 others(2): Show HG00738.hp1 HG01123.hp1 HG01361.hp1 HG01516.hp1 HG01516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0234 a0002c0003t0003g0001 a0002c0003t0003g0245 others(2): Show a0001c0001t0002g0234 a0002c0003t0003g0001 a0002c0003t0003g0245 a0002c0003t0003g0246 a0002c0003t0003g0247	5	322	0.0155	14	c.-90 others(23): Show c.-901_-888dupAAAAAAAAAAAAAA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		795		chr2	TogoVar
CMPK1_chr1_47328790_47383839	47365633	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	364	0.0028	14	c.172 others(31): Show c.172-2832_172-2819dupAAAAAAAAAAAAAA	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMPK1_chr1_47328790_47383839	47380250	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	364	0.0028	14	c.35 others(25): Show c.3505_*3506insTTTTTTTTTTTTTT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding		1412		chr1	TogoVar
CMSS1_chr3_99812862_100186732	99872269	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02735.hp1 HG00323.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0194 a0001c0001t0002g0093 a0001c0001t0001g0194 a0001c0001t0002g0093	2	232	0.0086	14	c.64+ others(31): Show c.64+54267_64+54280dupTGTGTGTGTGTGTG	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99957693	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01261.hp2 others(19): Show HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG02559.hp1 HG02615.hp2 HG02809.hp1 HG02922.hp2 HG03225.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18906.hp2 NA19056.hp1 NA19091.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0003c0003t0001	a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0070 others(19): Show a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0002g0052 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0076 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0011g0169 a0003c0003t0001g0231	22	232	0.0948	14	c.64+ others(33): Show c.64+139665_64+139678dupTTTTTTTTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99983389	A A	AATATGTA others(7): Show AATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18980.hp1 NA19091.hp1 HG00741.hp1 NA18980.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0002g0150 a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0002g0150	3	232	0.0129	14	c.65- others(33): Show c.65-163580_65-163579insGTATATATATATAT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99983474	A A	ATATATGT others(7): Show ATATATGTGTATGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	232	0.0043	14	c.65- others(33): Show c.65-163494_65-163493insGTGTATGTGTATAT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99983476	A A	ATATGTGT others(7): Show ATATGTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02602.hp1 HG01257.hp1 HG01258.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0062 a0001c0001t0002g0075 a0001c0001t0002g0076	3	232	0.0129	14	c.65- others(33): Show c.65-163494_65-163493insGTGTATGTGTGTAT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100074675	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02970.hp1 NA18612.hp1 HG02486.hp2 HG02970.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0222 a0001c0001t0004g0030 a0001c0001t0010g0055 a0001c0001t0001g0222 a0001c0001t0004g0030 a0001c0001t0010g0055	3	232	0.0129	14	c.65- others(31): Show c.65-72275_65-72262dupTTTTTTTTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100117878	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	232	0.0043	14	c.65- others(31): Show c.65-29094_65-29093insTATATATATACACA	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM2_chr16_66574463_66593275	66589828	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 NA18998.hp1 HG02965.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0003 a0002c0003t0001g0012 a0002c0002t0001g0003 a0002c0003t0001g0012	2	410	0.0049	14	c.17 others(25): Show c.1709_*1710insAAAAAAAAAAAAAA	CMTM2	ENSG00000140932.10	transcript	ENST00000268595.3	protein_coding		1554		chr16	TogoVar
CMTM4_chr16_66609750_66701743	66633086	A A	AAAATATA others(7): Show AAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG03453.hp1 others(1): Show HG02451.hp2 HG02886.hp2 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0028 a0001c0001t0001 a0001c0001t0012 a0001c0001t0028	a0001c0001t0001g0093 a0001c0001t0012g0082 a0001c0001t0012g0084 others(1): Show a0001c0001t0001g0093 a0001c0001t0012g0082 a0001c0001t0012g0084 a0001c0001t0028g0054	4	320	0.0125	14	c.363 others(31): Show c.363+3305_363+3318dupATATATATATATTT	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CMTM6_chr3_32476312_32507852	32477706	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01261.hp1 others(44): Show HG00741.hp1 HG01070.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01981.hp1 HG02074.hp1 HG02145.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG06807.hp1 NA18522.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18956.hp1 NA18966.hp1 NA18967.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19062.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19087.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0030 a0001c0001t0036 a0002c0003t0007	a0001c0001t0001g0041 a0001c0001t0003g0003 a0001c0001t0003g0190 others(36): Show a0001c0001t0001g0041 a0001c0001t0003g0003 a0001c0001t0003g0190 a0001c0001t0004g0008 a0001c0001t0005g0007 a0001c0001t0005g0044 a0001c0001t0006g0033 a0001c0001t0006g0048 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0168 a0001c0001t0006g0172 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0007g0074 a0001c0001t0008g0016 a0001c0001t0008g0166 a0001c0001t0008g0167 a0001c0001t0008g0194 a0001c0001t0009g0014 a0001c0001t0009g0043 a0001c0001t0009g0060 a0001c0001t0010g0039 a0001c0001t0011g0211 a0001c0001t0012g0036 a0001c0001t0012g0185 a0001c0001t0012g0197 a0001c0001t0013g0063 a0001c0001t0013g0064 a0001c0001t0013g0065 a0001c0001t0015g0218 a0001c0001t0019g0018 a0001c0001t0020g0214 a0001c0001t0020g0215 a0001c0001t0026g0049 a0001c0001t0030g0066 a0001c0001t0036g0210 a0002c0003t0007g0061	47	384	0.1224	14	c.62 others(25): Show c.6240_*6253dupTTTTTTTTTTTTTT	CMTM6	ENSG00000091317.8	transcript	ENST00000205636.4	protein_coding		3605		chr3	TogoVar
CMTM6_chr3_32476312_32507852	32477706	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0217 a0001c0001t0020g0217	1	384	0.0026	14	c.62 others(25): Show c.6253_*6254insTTCTTTTTTTTTTT	CMTM6	ENSG00000091317.8	transcript	ENST00000205636.4	protein_coding		3605		chr3	TogoVar
CMTM7_chr3_32386853_32460528	32430681	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01975.hp2 others(19): Show HG00280.hp2 HG00735.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02273.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02698.hp2 HG02886.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03486.hp2 HG03579.hp2 NA18906.hp2 NA18959.hp1 NA18960.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017	a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0028 others(19): Show a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0143 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0243 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0308 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0142 a0001c0001t0014g0292 a0001c0001t0017g0199	22	368	0.0598	14	c.160 others(33): Show c.160-11138_160-11125dupTGTGTGTGTGTGTG	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32430714	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03654.hp2 NA19081.hp2 HG01261.hp1 HG03654.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0157 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0001g0157 a0001c0001t0002g0347 a0001c0001t0002g0349	3	368	0.0082	14	c.160 others(33): Show c.160-11125_160-11124insTGTGTGTGTGTGAG	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32273129	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00642.hp1 others(17): Show HG00544.hp2 HG00558.hp2 HG00642.hp1 HG01361.hp2 HG01934.hp2 HG02040.hp2 HG02148.hp2 HG02572.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 NA18612.hp1 NA18942.hp1 NA18950.hp2 NA18963.hp1 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0030 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0156 a0001c0001t0001g0196 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0292 a0001c0001t0001g0313	20	344	0.0581	14	c.147 others(33): Show c.147+34030_147+34043dupGTGTGTGTGTGTGT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32293077	G G	GTGTGTGT others(7): Show GTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	344	0.0029	14	c.147 others(33): Show c.147+53959_147+53960insGTGTGTATATATAT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32295455	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	344	0.0029	14	c.147 others(33): Show c.147+56346_147+56359dupAAAAAAAAAAAAAA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319057	C C	CATACATA others(7): Show CATACATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp1 HG02647.hp1 HG01243.hp2 HG02615.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0020	3	344	0.0087	14	c.148 others(33): Show c.148-38313_148-38312insCATATATATATATA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATTT others(7): Show ATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	344	0.0029	14	c.148 others(33): Show c.148-38298_148-38297insATATTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32347297	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG01192.hp1 others(19): Show HG00423.hp2 HG00609.hp1 HG01192.hp1 HG01515.hp1 HG02004.hp1 HG02523.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG03225.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 NA18522.hp2 NA18959.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0032 others(19): Show a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0320 a0001c0001t0001g0342 a0001c0001t0002g0214	22	344	0.0640	14	c.148 others(33): Show c.148-10064_148-10063insTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32348529	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02886.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0181 a0001c0001t0001g0058 a0001c0001t0001g0181	2	344	0.0058	14	c.148 others(31): Show c.148-8831_148-8830insTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar

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