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
CMIP_chr16_81439808_81716762	81640770	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTCTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02486.hp1 HG01169.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0046 a0001c0001t0040 a0001c0001t0046	a0001c0001t0040g0243 a0001c0001t0046g0180 a0001c0001t0040g0243 a0001c0001t0046g0180	2	268	0.0075	20	c.478 others(39): Show c.478-11432_478-11431insGTGTGTGTGTGTGTGTCTCT	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(13): Show GTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG02647.hp2 HG02895.hp1 HG02897.hp2 HG04199.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0261 others(2): Show a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263	5	268	0.0187	20	c.478 others(39): Show c.478-11432_478-11431insGTGTGTGTGTGTGTGTGTCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMPK1_chr1_47328790_47383839	47336138	G G	GAAATAAA others(13): Show GAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp2 HG03225.hp2 HG02486.hp2 HG02896.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0226 a0001c0001t0012g0235 a0001c0001t0012g0274 a0001c0001t0001g0226 a0001c0001t0012g0235 a0001c0001t0012g0274	3	364	0.0082	20	c.171 others(37): Show c.171+2027_171+2046dupAAATAAATAAATAAATAAAT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMPK1_chr1_47328790_47383839	47338517	C C	CTCCCTCC others(13): Show CTCCCTCCCTCCCTCTCTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19072.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0005 a0002c0002 a0003c0003 a0004c0005	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 a0003c0003t0002 a0004c0005t0002	a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0088 others(98): Show a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0088 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0326 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0027 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0200 a0002c0002t0003g0144 a0002c0002t0018g0214 a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0137 a0003c0003t0002g0142 a0003c0003t0002g0149 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0161 a0003c0003t0002g0167 a0003c0003t0002g0171 a0003c0003t0002g0181 a0003c0003t0002g0188 a0003c0003t0002g0199 a0004c0005t0002g0143 a0004c0005t0002g0189 a0004c0005t0002g0192	112	364	0.3077	20	c.171 others(37): Show c.171+4456_171+4475dupTCTCCTTCCCTCCCTCCCTC	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMPK1_chr1_47328790_47383839	47338547	C C	CCCTCTCT others(13): Show CCCTCTCTCCTTCCCTCCCTA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19074.hp2 HG02132.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0206 a0002c0002t0001g0207	2	364	0.0055	20	c.171 others(37): Show c.171+4450_171+4451insACCTCTCTCCTTCCCTCCCT	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(13): Show GTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0087 a0002c0002t0016g0087	1	364	0.0028	20	c.35 others(31): Show c.3505_*3506insTTTTTTTTTTTTTTTTTTTT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding		1412		chr1	TogoVar
CMSS1_chr3_99812862_100186732	99957693	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03831.hp2 HG03490.hp2 HG03492.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026	3	232	0.0129	20	c.64+ others(39): Show c.64+139659_64+139678dupTTTTTTTTTTTTTTTTTTTT	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(13): Show AATATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01934.hp2 HG02293.hp1 HG01261.hp1 HG01934.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0153 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0153	3	232	0.0129	20	c.65- others(39): Show c.65-163580_65-163579insGTATATATATATATATATAT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99984048	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01192.hp1 HG01256.hp1 others(31): Show HG01168.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01516.hp1 HG01975.hp2 HG01981.hp1 HG02040.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02809.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA19030.hp2 NA19056.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0031 a0001c0001t0001g0161 a0001c0001t0001g0165 others(31): Show a0001c0001t0001g0031 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0205 a0001c0001t0002g0013 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0074 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0164 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0007g0029 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0011g0169 a0001c0001t0016g0195	34	232	0.1466	20	c.65- others(39): Show c.65-162922_65-162921insGTGTGTGTGTGTGTGTGTGT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99984062	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG02486.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0044 a0001c0001t0002g0045	2	232	0.0086	20	c.65- others(39): Show c.65-162896_65-162895insGTGTTTGTGTGTGTGTGTGT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021960	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	232	0.0043	20	c.65- others(39): Show c.65-125012_65-125011insTGTGTGTGTGTGAGAGAGAG	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(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18963.hp1 NA18970.hp1 HG00558.hp1 NA18963.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	3	410	0.0073	20	c.17 others(31): Show c.1709_*1710insAAAAAAAAAAAAAAAAAAAA	CMTM2	ENSG00000140932.10	transcript	ENST00000268595.3	protein_coding		1554		chr16	TogoVar
CMTM4_chr16_66609750_66701743	66696662	G G	GCCGCCTC others(13): Show GCCGCCTCTCGCCCGCCGCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0318 a0001c0003t0044g0318	1	320	0.0031	20	c.-15 others(29): Show c.-157_-138dupGGGCGGCGGGCGAGAGGCGG	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	1/4	138		chr16	TogoVar
CMTM6_chr3_32476312_32507852	32477706	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG03486.hp2 HG03688.hp1 others(2): Show HG02683.hp1 HG03486.hp2 HG03688.hp1 NA18940.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0058 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0058 a0001c0001t0002g0099	5	384	0.0130	20	c.62 others(31): Show c.6253_*6254insTTTTTTTTTTTTTTTTTTTT	CMTM6	ENSG00000091317.8	transcript	ENST00000205636.4	protein_coding		3605		chr3	TogoVar
CMTM7_chr3_32386853_32460528	32392245	G G	GCCCCCGC others(13): Show GCCCCCGCGCTGGAGCTCAGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(75): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG01070.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03017.hp1 HG03098.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03831.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp2 NA18972.hp1 NA18975.hp1 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19055.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0002t0004 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0002g0013 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0007g0334 a0001c0001t0007g0340 a0001c0001t0007g0341 a0001c0001t0008g0331 a0001c0001t0011g0316 a0001c0001t0011g0317 a0001c0001t0013g0332 a0001c0002t0004g0019 a0001c0005t0001g0357	78	368	0.2120	20	c.159 others(35): Show c.159+185_159+204dupCGCGCTGGAGCTCAGTCCCC	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32430681	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00741.hp1 others(18): Show HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01167.hp1 HG02004.hp2 HG02083.hp2 HG02809.hp2 HG03195.hp2 HG03453.hp1 HG03688.hp1 HG03831.hp2 HG04199.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18945.hp1 NA18962.hp1 NA18993.hp2 NA19010.hp2 NA19062.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0076 a0001c0001t0001g0079 others(17): Show a0001c0001t0001g0008 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0159 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0251 a0001c0001t0001g0280 a0001c0001t0001g0310 a0001c0001t0001g0320 a0001c0001t0001g0330 a0001c0001t0001g0333	21	368	0.0571	20	c.160 others(39): Show c.160-11144_160-11125dupTGTGTGTGTGTGTGTGTGTG	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(13): Show TGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03209.hp1 HG03453.hp2 others(2): Show HG01496.hp1 HG03209.hp1 HG03453.hp2 NA19010.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0002g0336 others(2): Show a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0007g0334	5	368	0.0136	20	c.160 others(39): Show c.160-11125_160-11124insTGTGTGTGTGTGTGTGTGAG	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32457633	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	368	0.0027	20	c.33 others(31): Show c.3379_*3380insAAAAAAAAAAAAAAAAAAAA	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding		2106		chr3	TogoVar
CMTM8_chr3_32233680_32375321	32273129	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02293.hp2 NA18982.hp2 HG01106.hp2 HG02293.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0136 a0001c0001t0001g0244 a0001c0001t0001g0006 a0001c0001t0001g0136 a0001c0001t0001g0244	3	344	0.0087	20	c.147 others(39): Show c.147+34024_147+34043dupGTGTGTGTGTGTGTGTGTGT	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(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03688.hp2 HG02922.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0167 a0001c0001t0002g0224 a0001c0001t0001g0167 a0001c0001t0002g0224	2	344	0.0058	20	c.147 others(39): Show c.147+56340_147+56359dupAAAAAAAAAAAAAAAAAAAA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	344	0.0029	20	c.148 others(39): Show c.148-38298_148-38297insATATATATATATATATTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01071.hp1 others(4): Show HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01255.hp2 HG01257.hp1 HG01433.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0095 others(4): Show a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0139 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0002g0279	7	344	0.0204	20	c.148 others(39): Show c.148-38298_148-38297insATATATATATATATTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02083.hp2 HG02559.hp2 others(4): Show HG01081.hp1 HG02083.hp2 HG02559.hp2 HG02896.hp1 HG03130.hp1 NA18999.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0228 others(4): Show a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0228 a0001c0001t0001g0285 a0001c0001t0002g0207 a0001c0004t0001g0188 a0002c0003t0002g0197	7	344	0.0204	20	c.148 others(39): Show c.148-38298_148-38297insATATATATATATTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00639.hp2 others(5): Show HG00323.hp1 HG00544.hp1 HG00639.hp2 HG02273.hp1 HG02897.hp2 HG03017.hp1 HG03209.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0097 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0182 a0001c0001t0001g0252 a0001c0001t0002g0227 a0001c0001t0002g0277 a0001c0001t0003g0168	8	344	0.0233	20	c.148 others(39): Show c.148-38298_148-38297insATATATATATTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG03710.hp2 HG01257.hp2 HG01258.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0217 a0001c0001t0001g0315 a0001c0001t0001g0316	3	344	0.0087	20	c.148 others(39): Show c.148-38298_148-38297insATATATATTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTGTTT others(13): Show GTTTGTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	344	0.0029	20	c.321 others(37): Show c.321+3743_321+3744insGTTTTTTTTTTGTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTGTTT others(13): Show GTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	344	0.0029	20	c.321 others(37): Show c.321+3743_321+3744insGTTTTTTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTTTTT others(13): Show GTTTTTTTTTTGTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00741.hp1 others(60): Show HG00140.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02738.hp1 HG02809.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04199.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18948.hp1 NA18954.hp1 NA18964.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18984.hp1 NA18992.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19079.hp2 NA19083.hp1 NA19087.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0003c0002t0001 a0001c0001t0001 a0001c0001t0002 a0003c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(60): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0186 a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0341 a0001c0001t0002g0200 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0003c0002t0001g0195	63	344	0.1831	20	c.321 others(37): Show c.321+3749_321+3750insTGTTTTTTGTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTTTTT others(13): Show GTTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02523.hp2 HG02723.hp2 others(8): Show HG01192.hp1 HG02523.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG03225.hp2 HG03834.hp1 NA18522.hp2 NA18982.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0073 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0185	11	344	0.0320	20	c.321 others(37): Show c.321+3749_321+3750insTGTTTTTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361289	T T	TTTTTTTT others(13): Show TTTTTTTTTGTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02258.hp1 HG03098.hp1 others(3): Show HG01255.hp1 HG02258.hp1 HG03098.hp1 HG03516.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0001t0001 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0095 a0001c0001t0001g0172 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0095 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0004g0229 a0001c0004t0001g0189	6	344	0.0174	20	c.321 others(37): Show c.321+3749_321+3750insTTGTTTTTTTTTTGTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361291	T T	TTTTTTGT others(13): Show TTTTTTGTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	344	0.0029	20	c.321 others(37): Show c.321+3749_321+3750insTGTTTTTTTTTTTTTGTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTR1_chr6_37428221_37486508	37449263	T T	TTTATGTT others(13): Show TTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	358	0.0028	20	c.445 others(35): Show c.445-981_445-980insATGTTATGTTATGTTATGTT	CMTR1	ENSG00000137200.13	transcript	ENST00000373451.9	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
CMTR1_chr6_37428221_37486508	37449271	T T	TTGTTATG others(13): Show TTGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02109.hp2 HG02293.hp1 others(11): Show HG01256.hp2 HG02109.hp2 HG02293.hp1 HG02809.hp1 HG02965.hp1 HG03195.hp1 HG03516.hp1 NA18522.hp2 NA18956.hp1 NA18961.hp2 NA18998.hp1 NA19007.hp1 NA19080.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007	a0001c0001t0001g0178 a0001c0001t0002g0032 a0001c0001t0002g0036 others(9): Show a0001c0001t0001g0178 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0164 a0001c0001t0002g0188 a0001c0001t0002g0211 a0001c0001t0003g0270 a0001c0001t0014g0144 a0001c0002t0001g0156 a0001c0002t0004g0165 a0001c0002t0004g0167 a0001c0002t0007g0258	14	358	0.0391	20	c.445 others(35): Show c.445-953_445-934dupGTTATGTTATGTTATGTTAT	CMTR1	ENSG00000137200.13	transcript	ENST00000373451.9	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
CMTR2_chr16_71276392_71294402	71289650	G G	GGAGGGGG others(13): Show GGAGGGGGAGGGGGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0024 a0004c0005t0006g0024	1	437	0.0023	20	c.-59 others(29): Show c.-595_-594insTCCCCCTCCCCCTCCCCCTC	CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding		249		chr16	TogoVar
CMYA5_chr5_79684836_79805222	79688942	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0070 a0070	a0070c0066 a0070c0066	a0070c0066t0005 a0070c0066t0005	a0070c0066t0005g0037 a0070c0066t0005g0037	1	358	0.0028	20	c.-96 others(29): Show c.-966_-965insAAAAAAAAAAAAAAAAAAAA	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding		893		chr5	TogoVar
CMYA5_chr5_79684836_79805222	79726909	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0031 a0031	a0031c0046 a0031c0046	a0031c0046t0001 a0031c0046t0001	a0031c0046t0001g0186 a0031c0046t0001g0186	1	358	0.0028	20	c.150 others(37): Show c.150-2002_150-1983dupTTTTTTTTTTTTTTTTTTTT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CMYA5_chr5_79684836_79805222	79778811	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA20905.hp1 NA19056.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0292 a0002c0002t0001g0043 a0001c0001t0001g0292 a0002c0002t0001g0043	2	358	0.0056	20	c.115 others(43): Show c.11556-10154_11556-10135dupGTGTGTGTGTGTGTGTGTGT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CMYA5_chr5_79684836_79805222	79778813	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02809.hp2 HG02922.hp2 HG01243.hp1 HG02809.hp2 HG02922.hp2	a0019 a0035 a0072 a0019 a0035 a0072	a0019c0024 a0035c0037 a0072c0071 a0019c0024 a0035c0037 a0072c0071	a0019c0024t0017 a0035c0037t0011 a0072c0071t0002 a0019c0024t0017 a0035c0037t0011 a0072c0071t0002	a0019c0024t0017g0355 a0035c0037t0011g0319 a0072c0071t0002g0191 a0019c0024t0017g0355 a0035c0037t0011g0319 a0072c0071t0002g0191	3	358	0.0084	20	c.115 others(43): Show c.11556-10139_11556-10138insATGTGTGTGTGTGTGTGTGT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	86940132	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG06807.hp2 HG00621.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0078 a0001c0001t0001g0023 a0001c0001t0001g0078	2	152	0.0132	20	c.431 others(35): Show c.431+397_431+398insTTTTTTTTTTTTTTTTTTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87129069	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG00741.hp2 others(6): Show HG00099.hp1 HG00741.hp1 HG00741.hp2 HG02155.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 NA18939.hp1 NA19081.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0008c0011t0001 a0001c0001t0001 a0008c0011t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 others(6): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0129 a0008c0011t0001g0036	9	152	0.0592	20	c.432 others(39): Show c.432-76921_432-76902dupAAAAAAAAAAAAAAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136769	T T	TTTATATT others(13): Show TTTATATTAAATATAAATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	152	0.0066	20	c.432 others(39): Show c.432-69223_432-69222insTATATTAAATATAAATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87368161	A A	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 HG03486.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0015 a0003c0004t0001g0068 a0001c0001t0001g0015 a0003c0004t0001g0068	2	152	0.0132	20	c.130 others(41): Show c.1303+14383_1303+14402dupAAGAAAAGAAAAGAAAAGAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD2_chr20_35963590_36035700	36007189	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0002 a0007c0019t0002	a0007c0019t0002g0125 a0007c0019t0002g0125	1	268	0.0037	20	c.971 others(37): Show c.971-1097_971-1078dupATAAATAAATAAATAAATAA	CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNBP_chr3_129162827_129188896	129172695	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	430	0.0023	20	c.-14 others(35): Show c.-14-944_-14-925dupGTGTGTGTGTGTGTGTGTGT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNBP_chr3_129162827_129188896	129181649	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02056.hp2 HG02129.hp1 others(1): Show HG01123.hp1 HG02056.hp2 HG02129.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0009 a0001c0002t0005 a0001c0002t0009	a0001c0002t0005g0356 a0001c0002t0005g0357 a0001c0002t0005g0358 others(1): Show a0001c0002t0005g0356 a0001c0002t0005g0357 a0001c0002t0005g0358 a0001c0002t0009g0355	4	430	0.0093	20	c.-15 others(37): Show c.-15+2126_-15+2127insTTTTTTTTTTTTTTTTTTTT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNDP1_chr18_74529500_74592212	74573432	C C	CCATTCAT others(13): Show CCATTCATCCATCCATCCATT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0133 a0003c0006t0002g0133	1	390	0.0026	20	c.841 others(37): Show c.841+2162_841+2163insCATTCATCCATCCATCCATT	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	7/11			chr18	TogoVar
CNGB1_chr16_57877340_57976128	57879796	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18962.hp2 NA18954.hp1 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0018 a0002c0005 a0001c0018 a0002c0005	a0001c0018t0002 a0002c0005t0002 a0001c0018t0002 a0002c0005t0002	a0001c0018t0002g0254 a0002c0005t0002g0320 a0001c0018t0002g0254 a0002c0005t0002g0320	2	360	0.0056	20	c.43 others(31): Show c.4367_*4368insGGAAGGAAGGAAGGAAGGAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2543		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57885557	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02738.hp2 HG02895.hp2 others(7): Show HG02145.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG03239.hp1 HG04228.hp2 NA18972.hp2 NA18980.hp2 NA19002.hp1 NA19088.hp1	a0001 a0009 a0010 others(2): Show a0001 a0009 a0010 a0036 a0042	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0009c0098 a0010c0010 a0036c0067 a0042c0057	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0003 a0001c0004t0001 a0009c0098t0003 a0010c0010t0003 a0036c0067t0002 a0042c0057t0002	a0001c0001t0001g0262 a0001c0001t0003g0208 a0001c0002t0002g0157 others(7): Show a0001c0001t0001g0262 a0001c0001t0003g0208 a0001c0002t0002g0157 a0001c0003t0003g0283 a0001c0004t0001g0117 a0009c0098t0003g0241 a0010c0010t0003g0325 a0010c0010t0003g0328 a0036c0067t0002g0051 a0042c0057t0002g0147	10	360	0.0278	20	c.346 others(39): Show c.3463-1120_3463-1101dupAGAGAGAGAGAGAGAGAGAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32			chr16	TogoVar
CNGB1_chr16_57877340_57976128	57973399	A A	ATGCGCGT others(13): Show ATGCGCGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	360	0.0028	20	c.-23 others(31): Show c.-2349_-2348insCACACACACACACACGCGCA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2272		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57973399	A A	ATGTGCAT others(13): Show ATGTGCATGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00733.hp1 others(15): Show HG00438.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp1 HG01123.hp1 HG01358.hp2 HG03831.hp1 NA18942.hp2 NA18947.hp1 NA18960.hp2 NA18962.hp2 NA18977.hp2 NA18986.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0013 a0001c0018 a0001c0035 a0001c0097 a0001c0103 a0003c0101	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0001c0003t0002 a0001c0004t0014 a0001c0013t0001 a0001c0013t0004 a0001c0018t0002 a0001c0035t0010 a0001c0097t0003 a0001c0103t0029 a0003c0101t0030	a0001c0001t0001g0236 a0001c0001t0002g0238 a0001c0001t0002g0273 others(15): Show a0001c0001t0001g0236 a0001c0001t0002g0238 a0001c0001t0002g0273 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0003g0224 a0001c0001t0007g0290 a0001c0003t0001g0197 a0001c0003t0001g0202 a0001c0003t0002g0191 a0001c0004t0014g0192 a0001c0013t0001g0306 a0001c0013t0004g0308 a0001c0018t0002g0254 a0001c0035t0010g0230 a0001c0097t0003g0231 a0001c0103t0029g0272 a0003c0101t0030g0264	18	360	0.0500	20	c.-23 others(31): Show c.-2349_-2348insCACACACACACACATGCACA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2272		chr16	TogoVar

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