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
CMTM6_chr3_32476312_32507852	32488042	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	384	0.0026	0	c.316 others(5): Show c.316-6G>A		CMTM6	ENSG00000091317.8	transcript	ENST00000205636.4	protein_coding	2/3					chr3	TogoVar
CMTM6_chr3_32476312_32507852	32488043	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	384	0.0026	0	c.316 others(5): Show c.316-7T>A		CMTM6	ENSG00000091317.8	transcript	ENST00000205636.4	protein_coding	2/3					chr3	TogoVar
CMTR2_chr16_71276392_71294402	71288872	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	437	0.0023	0	c.-20 others(5): Show c.-20+6A>T		CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding	2/2					chr16	TogoVar
CMTR2_chr16_71276392_71294402	71289130	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	437	0.0023	0	c.-80 others(5): Show c.-80+6C>G		CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding	1/2					chr16	TogoVar
CMTR2_chr16_71276392_71294402	71289138	T T	G G	splice_region_variant splice_region_variant	LOW	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0013 a0004c0005t0013	a0004c0005t0013g0022 a0004c0005t0013g0022	1	437	0.0023	0	c.-82 others(3): Show c.-82A>C		CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding	1/3					chr16	TogoVar
CMYA5_chr5_79684836_79805222	79728911	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(217): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0002 a0003 a0004 others(51): Show a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0013 a0014 a0019 a0020 a0021 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032 a0035 a0036 a0037 a0038 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0072 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0084	a0002c0002 a0002c0020 a0002c0106 others(68): Show a0002c0002 a0002c0020 a0002c0106 a0002c0114 a0003c0003 a0003c0034 a0003c0069 a0004c0006 a0004c0011 a0004c0014 a0005c0005 a0005c0077 a0005c0079 a0005c0085 a0005c0089 a0006c0004 a0007c0008 a0007c0097 a0009c0009 a0013c0016 a0014c0027 a0014c0045 a0019c0024 a0020c0025 a0021c0026 a0023c0022 a0024c0082 a0024c0087 a0025c0023 a0027c0042 a0028c0043 a0029c0044 a0030c0095 a0030c0096 a0031c0046 a0032c0109 a0032c0110 a0035c0037 a0036c0068 a0036c0070 a0037c0036 a0038c0035 a0040c0040 a0041c0041 a0042c0029 a0043c0094 a0044c0093 a0045c0099 a0046c0098 a0047c0105 a0048c0107 a0049c0103 a0050c0104 a0051c0100 a0052c0102 a0053c0101 a0054c0108 a0055c0113 a0056c0112 a0057c0111 a0058c0092 a0072c0071 a0074c0078 a0075c0086 a0076c0088 a0077c0083 a0078c0080 a0079c0081 a0080c0090 a0081c0091 a0084c0050	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(104): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0020t0001 a0002c0020t0002 a0002c0106t0007 a0002c0114t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 a0003c0003t0013 a0003c0034t0009 a0003c0034t0012 a0003c0069t0002 a0004c0006t0001 a0004c0006t0002 a0004c0006t0003 a0004c0011t0001 a0004c0011t0002 a0004c0011t0003 a0004c0014t0002 a0005c0005t0001 a0005c0005t0002 a0005c0005t0004 a0005c0077t0001 a0005c0079t0003 a0005c0085t0001 a0005c0089t0001 a0006c0004t0001 a0006c0004t0002 a0006c0004t0006 a0007c0008t0001 a0007c0008t0002 a0007c0008t0004 a0007c0008t0011 a0007c0097t0002 a0009c0009t0001 a0009c0009t0002 a0009c0009t0014 a0013c0016t0001 a0013c0016t0003 a0013c0016t0004 a0013c0016t0007 a0014c0027t0001 a0014c0027t0002 a0014c0027t0003 a0014c0045t0002 a0019c0024t0001 a0019c0024t0017 a0020c0025t0001 a0021c0026t0001 a0021c0026t0002 a0023c0022t0001 a0023c0022t0008 a0024c0082t0001 a0024c0087t0001 a0025c0023t0001 a0025c0023t0002 a0027c0042t0001 a0028c0043t0001 a0029c0044t0004 a0029c0044t0012 a0030c0095t0003 a0030c0096t0001 a0031c0046t0001 a0031c0046t0002 a0032c0109t0002 a0032c0110t0002 a0035c0037t0001 a0035c0037t0011 a0036c0068t0001 a0036c0070t0003 a0037c0036t0001 a0038c0035t0001 a0040c0040t0003 a0040c0040t0007 a0041c0041t0005 a0042c0029t0001 a0043c0094t0002 a0044c0093t0001 a0045c0099t0002 a0046c0098t0005 a0047c0105t0001 a0048c0107t0004 a0049c0103t0003 a0050c0104t0003 a0051c0100t0002 a0052c0102t0002 a0053c0101t0001 a0054c0108t0001 a0055c0113t0001 a0056c0112t0001 a0057c0111t0002 a0058c0092t0003 a0072c0071t0002 a0074c0078t0001 a0075c0086t0001 a0076c0088t0002 a0077c0083t0002 a0078c0080t0002 a0079c0081t0002 a0080c0090t0002 a0081c0091t0005 a0084c0050t0001	a0002c0002t0001g0008 a0002c0002t0001g0043 a0002c0002t0001g0127 others(216): Show a0002c0002t0001g0008 a0002c0002t0001g0043 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0147 a0002c0002t0001g0173 a0002c0002t0001g0222 a0002c0002t0001g0253 a0002c0002t0001g0324 a0002c0002t0001g0331 a0002c0002t0002g0054 a0002c0002t0002g0061 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0112 a0002c0002t0002g0130 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0148 a0002c0002t0002g0159 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0229 a0002c0002t0002g0238 a0002c0002t0002g0288 a0002c0002t0002g0334 a0002c0002t0002g0354 a0002c0002t0006g0120 a0002c0002t0006g0164 a0002c0020t0001g0117 a0002c0020t0002g0121 a0002c0020t0002g0190 a0002c0020t0002g0293 a0002c0106t0007g0029 a0002c0114t0001g0196 a0003c0003t0001g0015 a0003c0003t0001g0046 a0003c0003t0001g0099 a0003c0003t0001g0153 a0003c0003t0001g0178 a0003c0003t0001g0188 a0003c0003t0001g0192 a0003c0003t0001g0232 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0002g0050 a0003c0003t0002g0058 a0003c0003t0002g0070 a0003c0003t0002g0149 a0003c0003t0002g0167 a0003c0003t0002g0213 a0003c0003t0002g0290 a0003c0003t0003g0081 a0003c0003t0003g0105 a0003c0003t0003g0352 a0003c0003t0005g0020 a0003c0003t0005g0035 a0003c0003t0008g0018 a0003c0003t0009g0313 a0003c0003t0013g0090 a0003c0034t0009g0320 a0003c0034t0012g0021 a0003c0069t0002g0310 a0004c0006t0001g0048 a0004c0006t0001g0078 a0004c0006t0001g0256 a0004c0006t0001g0304 a0004c0006t0002g0055 a0004c0006t0002g0144 a0004c0006t0002g0210 a0004c0006t0002g0249 a0004c0006t0002g0303 a0004c0006t0003g0062 a0004c0006t0003g0236 a0004c0006t0003g0258 a0004c0011t0001g0160 a0004c0011t0001g0206 a0004c0011t0001g0233 a0004c0011t0001g0277 a0004c0011t0002g0049 a0004c0011t0003g0251 a0004c0011t0003g0349 a0004c0014t0002g0040 a0004c0014t0002g0119 a0004c0014t0002g0158 a0004c0014t0002g0195 a0004c0014t0002g0227 a0004c0014t0002g0244 a0005c0005t0001g0039 a0005c0005t0001g0045 a0005c0005t0001g0216 a0005c0005t0001g0217 a0005c0005t0001g0218 a0005c0005t0001g0220 a0005c0005t0001g0270 a0005c0005t0001g0337 a0005c0005t0001g0353 a0005c0005t0002g0004 a0005c0005t0002g0170 a0005c0005t0002g0214 a0005c0005t0004g0017 a0005c0077t0001g0221 a0005c0079t0003g0082 a0005c0085t0001g0223 a0005c0089t0001g0348 a0006c0004t0001g0059 a0006c0004t0001g0079 a0006c0004t0001g0122 a0006c0004t0001g0152 a0006c0004t0001g0161 a0006c0004t0001g0162 a0006c0004t0001g0193 a0006c0004t0001g0201 a0006c0004t0001g0225 a0006c0004t0001g0247 a0006c0004t0002g0100 a0006c0004t0002g0123 a0006c0004t0002g0199 a0006c0004t0006g0156 a0007c0008t0001g0138 a0007c0008t0001g0168 a0007c0008t0001g0311 a0007c0008t0001g0340 a0007c0008t0002g0179 a0007c0008t0002g0301 a0007c0008t0002g0308 a0007c0008t0004g0030 a0007c0008t0004g0032 a0007c0008t0011g0341 a0007c0097t0002g0347 a0009c0009t0001g0014 a0009c0009t0001g0264 a0009c0009t0001g0322 a0009c0009t0001g0323 a0009c0009t0001g0346 a0009c0009t0001g0357 a0009c0009t0002g0265 a0009c0009t0002g0268 a0009c0009t0014g0266 a0013c0016t0001g0180 a0013c0016t0003g0307 a0013c0016t0004g0019 a0013c0016t0007g0024 a0013c0016t0007g0315 a0014c0027t0001g0052 a0014c0027t0002g0053 a0014c0027t0003g0051 a0014c0045t0002g0194 a0014c0045t0002g0230 a0019c0024t0001g0181 a0019c0024t0001g0184 a0019c0024t0017g0355 a0020c0025t0001g0278 a0020c0025t0001g0309 a0020c0025t0001g0344 a0021c0026t0001g0089 a0021c0026t0001g0189 a0021c0026t0002g0252 a0023c0022t0001g0185 a0023c0022t0008g0016 a0023c0022t0008g0025 a0024c0082t0001g0297 a0024c0087t0001g0010 a0025c0023t0001g0106 a0025c0023t0001g0234 a0025c0023t0002g0203 a0027c0042t0001g0134 a0027c0042t0001g0342 a0028c0043t0001g0183 a0028c0043t0001g0267 a0029c0044t0004g0026 a0029c0044t0012g0036 a0030c0095t0003g0271 a0030c0096t0001g0274 a0031c0046t0001g0186 a0031c0046t0002g0182 a0032c0109t0002g0231 a0032c0110t0002g0074 a0035c0037t0001g0177 a0035c0037t0011g0319 a0036c0068t0001g0133 a0036c0070t0003g0060 a0037c0036t0001g0103 a0037c0036t0001g0326 a0038c0035t0001g0092 a0038c0035t0001g0093 a0040c0040t0003g0325 a0040c0040t0007g0031 a0041c0041t0005g0001 a0042c0029t0001g0108 a0042c0029t0001g0109 a0043c0094t0002g0011 a0044c0093t0001g0276 a0045c0099t0002g0316 a0046c0098t0005g0259 a0047c0105t0001g0042 a0048c0107t0004g0317 a0049c0103t0003g0328 a0050c0104t0003g0272 a0051c0100t0002g0356 a0052c0102t0002g0211 a0053c0101t0001g0202 a0054c0108t0001g0187 a0055c0113t0001g0151 a0056c0112t0001g0072 a0057c0111t0002g0321 a0058c0092t0003g0263 a0072c0071t0002g0191 a0074c0078t0001g0289 a0075c0086t0001g0250 a0076c0088t0002g0215 a0077c0083t0002g0224 a0078c0080t0002g0118 a0079c0081t0002g0091 a0080c0090t0002g0094 a0081c0091t0005g0038 a0084c0050t0001g0107	220	358	0.6145	0	c.150 others(5): Show c.150-4A>G		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	1/12					chr5	TogoVar
CMYA5_chr5_79684836_79805222	79752673	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02486.hp2	a0048 a0048	a0048c0107 a0048c0107	a0048c0107t0004 a0048c0107t0004	a0048c0107t0004g0317 a0048c0107t0004g0317	1	358	0.0028	0	c.109 others(7): Show c.10992-3T>C		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	5/12					chr5	TogoVar
CMYA5_chr5_79684836_79805222	79793616	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0270 a0005c0005t0001g0270	1	358	0.0028	0	c.119 others(7): Show c.11963+6C>T		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	12/12					chr5	TogoVar
CNBD1_chr8_86861415_87387859	86939757	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02717.hp1 HG02809.hp2 others(2): Show HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp1 NA18906.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0007 a0003c0004 a0005c0007	a0003c0004t0001 a0005c0007t0002 a0003c0004t0001 a0005c0007t0002	a0003c0004t0001g0068 a0003c0004t0001g0145 a0003c0004t0001g0148 others(2): Show a0003c0004t0001g0068 a0003c0004t0001g0145 a0003c0004t0001g0148 a0003c0004t0001g0149 a0005c0007t0002g0144	5	152	0.0329	0	c.431 others(5): Show c.431+3A>G		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10					chr8	TogoVar
CNBD1_chr8_86861415_87387859	87205974	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01167.hp1 HG01167.hp2 others(23): Show HG01069.hp1 HG01167.hp1 HG01167.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG02257.hp1 HG02258.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0003c0004 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0005t0001 a0003c0004t0001 a0004c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0119 a0001c0001t0002g0003 a0001c0001t0002g0069 a0001c0001t0003g0111 a0002c0002t0001g0093 a0002c0002t0001g0150 a0002c0005t0001g0082 a0002c0005t0001g0084 a0002c0005t0001g0086 a0003c0004t0001g0149 a0004c0003t0002g0007	26	152	0.1711	1	c.432 others(6): Show c.432-4dupT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10				INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87205974	A A	ATT ATT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG02622.hp2 HG02647.hp2 others(4): Show HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02922.hp1 HG02965.hp2 HG03516.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0006 a0001c0008 others(3): Show a0001c0001 a0001c0006 a0001c0008 a0005c0007 a0006c0009 a0007c0010	a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 a0005c0007t0002 a0006c0009t0001 a0007c0010t0002	a0001c0001t0001g0081 a0001c0006t0001g0040 a0001c0006t0001g0098 others(4): Show a0001c0001t0001g0081 a0001c0006t0001g0040 a0001c0006t0001g0098 a0001c0008t0001g0147 a0005c0007t0002g0144 a0006c0009t0001g0089 a0007c0010t0002g0072	7	152	0.0461	2	c.432 others(13): Show c.432-5_432-4dupTT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10				INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87205974	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00642.hp2 HG01069.hp2 others(7): Show HG00099.hp1 HG00642.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01256.hp1 HG01256.hp2 HG02723.hp1 HG03225.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0046 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0003g0134	10	152	0.0658	-1	c.432 others(6): Show c.432-4delT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10				INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87237110	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02895.hp1 HG02895.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0036 a0008c0011t0001g0036	1	152	0.0066	0	c.769 others(3): Show c.769A>G	p.Met others(6): Show p.Met257Val	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/11	850/1624	769/1311	257/436		chr8	TogoVar
CNBD2_chr20_35963590_36035700	35972771	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0245	1	268	0.0037	0	c.189 others(5): Show c.189+5G>A		CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	2/11					chr20	TogoVar
CNBD2_chr20_35963590_36035700	35972772	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0245	1	268	0.0037	0	c.189 others(5): Show c.189+6C>A		CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	2/11					chr20	TogoVar
CNBD2_chr20_35963590_36035700	35980622	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0062 a0006c0010t0001g0062	1	268	0.0037	0	c.407 others(3): Show c.407G>A	p.Arg others(6): Show p.Arg136Gln	CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	4/12	580/1956	407/1731	136/576		chr20	TogoVar
CNBD2_chr20_35963590_36035700	35984781	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp1 HG03490.hp1 HG02738.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0063 a0002c0002t0001g0064	2	268	0.0075	0	c.716 others(5): Show c.716+3A>G		CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	6/11					chr20	TogoVar
CNBD2_chr20_35963590_36035700	36030700	G G	C C	splice_region_variant splice_region_variant	LOW	HG01361.hp1 HG01884.hp2 HG02109.hp1 others(29): Show HG01361.hp1 HG01884.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0010 a0012 a0014	a0001c0001 a0001c0004 a0002c0002 others(5): Show a0001c0001 a0001c0004 a0002c0002 a0002c0014 a0007c0019 a0010c0016 a0012c0015 a0014c0011	a0001c0001t0002 a0001c0004t0002 a0002c0002t0002 others(5): Show a0001c0001t0002 a0001c0004t0002 a0002c0002t0002 a0002c0014t0002 a0007c0019t0002 a0010c0016t0002 a0012c0015t0002 a0014c0011t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0020 others(29): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0082 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0004t0002g0021 a0001c0004t0002g0066 a0001c0004t0002g0100 a0002c0002t0002g0014 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0110 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0014t0002g0024 a0007c0019t0002g0125 a0010c0016t0002g0067 a0012c0015t0002g0108 a0014c0011t0002g0111	32	268	0.1194	0	c.52 others(3): Show c.52G>C		CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	12/12					chr20	TogoVar
CNDP1_chr18_74529500_74592212	74571177	ACT ACT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp1 HG01975.hp2 HG03834.hp1 others(1): Show HG01255.hp1 HG01975.hp2 HG03834.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0232 a0001c0001t0001g0259 a0001c0001t0003g0257 others(1): Show a0001c0001t0001g0232 a0001c0001t0001g0259 a0001c0001t0003g0257 a0001c0001t0003g0292	4	390	0.0103	-2	c.757 others(13): Show c.757-6_757-5delCT		CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	6/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
CNDP2_chr18_74491363_74528454	74506018	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	424	0.0024	0	c.367 others(5): Show c.367+7G>A		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	4/11					chr18	TogoVar
CNDP2_chr18_74491363_74528454	74508836	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	424	0.0024	0	c.368 others(5): Show c.368-4C>G		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	4/11					chr18	TogoVar
CNDP2_chr18_74491363_74528454	74518647	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02027.hp2 HG02451.hp1 HG02630.hp2 others(17): Show HG02027.hp2 HG02451.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG03453.hp2 HG03579.hp1 NA18747.hp1 NA18947.hp1 NA18954.hp1 NA18966.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18999.hp1 NA19009.hp2 NA19030.hp2 NA19060.hp1 NA19087.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0015 a0001c0001 a0002c0002 a0009c0015	a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0001t0037 a0002c0002t0006 a0009c0015t0004	a0001c0001t0004g0023 a0001c0001t0004g0058 a0001c0001t0004g0173 others(13): Show a0001c0001t0004g0023 a0001c0001t0004g0058 a0001c0001t0004g0173 a0001c0001t0004g0256 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0270 a0001c0001t0006g0027 a0001c0001t0006g0071 a0001c0001t0024g0222 a0001c0001t0037g0070 a0002c0002t0006g0099 a0002c0002t0006g0112 a0002c0002t0006g0119 a0002c0002t0006g0139 a0009c0015t0004g0258	20	424	0.0472	0	c.121 others(6): Show c.1210+7C>T		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11					chr18	TogoVar
CNDP2_chr18_74491363_74528454	74518648	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 NA18957.hp1 NA19075.hp1 HG02132.hp2 NA18957.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0050 a0001c0001t0001g0211 a0001c0001t0019g0050 a0001c0001t0001g0050 a0001c0001t0001g0211 a0001c0001t0019g0050	3	424	0.0071	0	c.121 others(6): Show c.1210+8G>A		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11					chr18	TogoVar
CNDP2_chr18_74491363_74528454	74518941	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02451.hp2 HG02970.hp1 others(1): Show HG01884.hp1 HG02451.hp2 HG02970.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0018 a0002c0002t0040 a0001c0001t0009 a0001c0001t0018 a0002c0002t0040	a0001c0001t0009g0170 a0001c0001t0009g0171 a0001c0001t0018g0175 others(1): Show a0001c0001t0009g0170 a0001c0001t0009g0171 a0001c0001t0018g0175 a0002c0002t0040g0140	4	424	0.0094	0	c.121 others(6): Show c.1211-8C>A		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11					chr18	TogoVar
CNDP2_chr18_74491363_74528454	74518949	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18987.hp2 NA18987.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0004 a0009c0015t0004	a0009c0015t0004g0258 a0009c0015t0004g0258	1	424	0.0024	0	c.121 others(4): Show c.1211T>G	p.Val others(6): Show p.Val404Gly	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	11/12	1372/4975	1211/1428	404/475		chr18	TogoVar
CNEP1R1_chr16_50020225_50042081	50033504	A A	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	378	0.0027	0	c.279 others(3): Show c.279A>T	p.Ser others(5): Show p.Ser93Ser	CNEP1R1	ENSG00000205423.12	transcript	ENST00000427478.7	protein_coding	4/6	370/2092	279/378	93/125		chr16	TogoVar
CNFN_chr19_42382019_42395297	42387248	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02615.hp2 HG02630.hp1 HG02109.hp2 HG02615.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0015 a0001c0001t0001g0022	3	276	0.0109	0	c.250 others(5): Show c.250-6C>T		CNFN	ENSG00000105427.10	transcript	ENST00000222032.10	protein_coding	3/3					chr19	TogoVar
CNFN_chr19_42382019_42395297	42387474	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0041 a0001c0005t0001g0041	1	276	0.0036	0	c.115 others(3): Show c.115C>T	p.Leu others(5): Show p.Leu39Leu	CNFN	ENSG00000105427.10	transcript	ENST00000222032.10	protein_coding	3/4	175/533	115/339	39/112		chr19	TogoVar
CNFN_chr19_42382019_42395297	42389037	T T	C C	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0046 a0002c0007t0001g0046	1	276	0.0036	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	CNFN	ENSG00000105427.10	transcript	ENST00000222032.10	protein_coding	2/4	61/533	1/339	1/112		chr19	TogoVar
CNGA2_chrX_151729746_151750564	151734943	A A	C C	splice_region_variant splice_region_variant	LOW	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0014 a0006c0009t0014	a0006c0009t0014g0120 a0006c0009t0014g0120	1	336	0.0030	0	c.-27 others(3): Show c.-27A>C		CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	1/7					chrX	TogoVar
CNGA2_chrX_151729746_151750564	151734946	A A	AG AG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18974.hp1 NA18974.hp1	a0017 a0017	a0017c0013 a0017c0013	a0017c0013t0001 a0017c0013t0001	a0017c0013t0001g0034 a0017c0013t0001g0034	1	336	0.0030	1	c.-27 others(6): Show c.-27+5dupG		CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	1/6				INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151738784	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0116 a0003c0003t0002g0116	1	336	0.0030	0	c.111 others(5): Show c.111-3C>T		CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	2/6					chrX	TogoVar
CNGB1_chr16_57877340_57976128	57882340	A A	T T	splice_region_variant splice_region_variant	LOW	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0101 a0003c0101	a0003c0101t0030 a0003c0101t0030	a0003c0101t0030g0264 a0003c0101t0030g0264	1	360	0.0028	0	c.18 others(5): Show c.1824T>A		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	33/33					chr16	TogoVar
CNGB1_chr16_57877340_57976128	57887848	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(33): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0033 a0037 a0038 a0040 a0041 a0043 a0046 a0047 a0049 a0050 a0051	a0001c0001 a0001c0002 a0001c0003 others(66): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0028 a0001c0042 a0001c0096 a0002c0005 a0002c0006 a0002c0011 a0002c0022 a0002c0037 a0002c0038 a0002c0109 a0002c0113 a0003c0012 a0003c0104 a0004c0014 a0004c0046 a0004c0048 a0004c0049 a0005c0030 a0005c0036 a0006c0081 a0006c0083 a0006c0086 a0007c0021 a0008c0025 a0008c0032 a0008c0054 a0009c0026 a0009c0061 a0009c0077 a0011c0058 a0012c0119 a0015c0031 a0016c0052 a0017c0060 a0018c0055 a0019c0110 a0020c0116 a0020c0118 a0022c0050 a0023c0043 a0024c0047 a0025c0051 a0026c0080 a0027c0078 a0028c0084 a0029c0088 a0033c0065 a0037c0071 a0038c0056 a0040c0063 a0041c0069 a0043c0076 a0046c0107 a0047c0111 a0049c0108 a0050c0121 a0051c0123	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(97): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0002t0022 a0001c0002t0033 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0012 a0001c0003t0032 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0004t0022 a0001c0007t0003 a0001c0007t0004 a0001c0007t0008 a0001c0013t0004 a0001c0013t0019 a0001c0015t0002 a0001c0015t0020 a0001c0016t0004 a0001c0017t0001 a0001c0018t0001 a0001c0019t0008 a0001c0019t0019 a0001c0027t0003 a0001c0028t0044 a0001c0042t0011 a0001c0096t0002 a0002c0005t0001 a0002c0005t0003 a0002c0005t0006 a0002c0005t0008 a0002c0006t0003 a0002c0006t0006 a0002c0006t0013 a0002c0006t0016 a0002c0011t0004 a0002c0011t0016 a0002c0022t0008 a0002c0037t0003 a0002c0038t0003 a0002c0109t0004 a0002c0113t0003 a0003c0012t0003 a0003c0104t0007 a0004c0014t0005 a0004c0014t0016 a0004c0046t0036 a0004c0048t0016 a0004c0049t0015 a0005c0030t0003 a0005c0036t0002 a0006c0081t0021 a0006c0083t0043 a0006c0086t0003 a0007c0021t0003 a0008c0025t0023 a0008c0032t0006 a0008c0054t0002 a0009c0026t0004 a0009c0061t0004 a0009c0077t0004 a0011c0058t0004 a0012c0119t0023 a0015c0031t0004 a0016c0052t0003 a0017c0060t0015 a0018c0055t0025 a0019c0110t0011 a0020c0116t0004 a0020c0118t0001 a0022c0050t0003 a0023c0043t0011 a0024c0047t0034 a0025c0051t0001 a0026c0080t0015 a0027c0078t0011 a0028c0084t0003 a0029c0088t0007 a0033c0065t0015 a0037c0071t0006 a0038c0056t0011 a0040c0063t0020 a0041c0069t0001 a0043c0076t0003 a0046c0107t0006 a0047c0111t0003 a0049c0108t0004 a0050c0121t0011 a0051c0123t0003	a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0236 others(129): Show a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0236 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0002g0250 a0001c0001t0003g0208 a0001c0001t0003g0224 a0001c0001t0003g0311 a0001c0001t0012g0212 a0001c0001t0013g0206 a0001c0001t0013g0251 a0001c0001t0017g0225 a0001c0002t0001g0035 a0001c0002t0001g0155 a0001c0002t0001g0338 a0001c0002t0002g0159 a0001c0002t0003g0008 a0001c0002t0003g0031 a0001c0002t0003g0038 a0001c0002t0003g0050 a0001c0002t0003g0113 a0001c0002t0005g0160 a0001c0002t0013g0041 a0001c0002t0022g0062 a0001c0002t0033g0053 a0001c0003t0001g0259 a0001c0003t0002g0191 a0001c0003t0002g0244 a0001c0003t0003g0215 a0001c0003t0003g0222 a0001c0003t0003g0283 a0001c0003t0003g0296 a0001c0003t0012g0204 a0001c0003t0032g0109 a0001c0004t0001g0117 a0001c0004t0001g0119 a0001c0004t0001g0165 a0001c0004t0003g0037 a0001c0004t0003g0128 a0001c0004t0003g0136 a0001c0004t0008g0135 a0001c0004t0022g0107 a0001c0007t0003g0004 a0001c0007t0003g0189 a0001c0007t0003g0340 a0001c0007t0004g0046 a0001c0007t0008g0356 a0001c0013t0004g0308 a0001c0013t0019g0213 a0001c0015t0002g0006 a0001c0015t0020g0336 a0001c0016t0004g0313 a0001c0017t0001g0114 a0001c0018t0001g0263 a0001c0019t0008g0247 a0001c0019t0019g0286 a0001c0019t0019g0299 a0001c0027t0003g0058 a0001c0028t0044g0064 a0001c0042t0011g0029 a0001c0096t0002g0293 a0002c0005t0001g0013 a0002c0005t0001g0014 a0002c0005t0001g0024 a0002c0005t0001g0087 a0002c0005t0001g0098 a0002c0005t0001g0332 a0002c0005t0003g0106 a0002c0005t0006g0089 a0002c0005t0008g0025 a0002c0006t0003g0012 a0002c0006t0006g0323 a0002c0006t0013g0083 a0002c0006t0016g0110 a0002c0011t0004g0066 a0002c0011t0004g0185 a0002c0011t0016g0190 a0002c0022t0008g0011 a0002c0037t0003g0092 a0002c0038t0003g0094 a0002c0109t0004g0108 a0002c0113t0003g0318 a0003c0012t0003g0176 a0003c0104t0007g0218 a0004c0014t0005g0346 a0004c0014t0016g0326 a0004c0046t0036g0348 a0004c0048t0016g0354 a0004c0049t0015g0344 a0005c0030t0003g0001 a0005c0036t0002g0256 a0006c0081t0021g0331 a0006c0083t0043g0063 a0006c0086t0003g0067 a0007c0021t0003g0105 a0008c0025t0023g0077 a0008c0032t0006g0221 a0008c0054t0002g0044 a0009c0026t0004g0059 a0009c0026t0004g0310 a0009c0061t0004g0049 a0009c0077t0004g0060 a0011c0058t0004g0140 a0012c0119t0023g0091 a0015c0031t0004g0333 a0015c0031t0004g0334 a0016c0052t0003g0180 a0017c0060t0015g0005 a0018c0055t0025g0042 a0019c0110t0011g0321 a0020c0116t0004g0070 a0020c0118t0001g0302 a0022c0050t0003g0352 a0023c0043t0011g0351 a0024c0047t0034g0350 a0025c0051t0001g0339 a0026c0080t0015g0188 a0027c0078t0011g0353 a0028c0084t0003g0330 a0029c0088t0007g0210 a0033c0065t0015g0043 a0037c0071t0006g0148 a0038c0056t0011g0047 a0040c0063t0020g0009 a0041c0069t0001g0045 a0043c0076t0003g0055 a0046c0107t0006g0099 a0047c0111t0003g0327 a0049c0108t0004g0061 a0050c0121t0011g0315 a0051c0123t0003g0085	133	360	0.3694	0	c.346 others(6): Show c.3462+7T>C		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32					chr16	TogoVar
CNGB1_chr16_57877340_57976128	57901344	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0201 a0001c0003t0002g0201	1	360	0.0028	0	c.297 others(6): Show c.2976+8G>C		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	29/32					chr16	TogoVar
CNGB1_chr16_57877340_57976128	57901522	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01515.hp2 HG01517.hp1 others(12): Show HG01109.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1	a0009 a0010 a0012 others(1): Show a0009 a0010 a0012 a0030	a0009c0026 a0009c0061 a0009c0077 others(7): Show a0009c0026 a0009c0061 a0009c0077 a0009c0098 a0010c0010 a0012c0115 a0012c0119 a0012c0120 a0012c0122 a0030c0092	a0009c0026t0004 a0009c0061t0004 a0009c0077t0004 others(8): Show a0009c0026t0004 a0009c0061t0004 a0009c0077t0004 a0009c0098t0003 a0010c0010t0003 a0010c0010t0008 a0012c0115t0045 a0012c0119t0023 a0012c0120t0003 a0012c0122t0003 a0030c0092t0001	a0009c0026t0004g0059 a0009c0026t0004g0310 a0009c0061t0004g0049 others(12): Show a0009c0026t0004g0059 a0009c0026t0004g0310 a0009c0061t0004g0049 a0009c0077t0004g0060 a0009c0098t0003g0241 a0010c0010t0003g0030 a0010c0010t0003g0325 a0010c0010t0003g0328 a0010c0010t0008g0090 a0010c0010t0008g0102 a0012c0115t0045g0111 a0012c0119t0023g0091 a0012c0120t0003g0065 a0012c0122t0003g0317 a0030c0092t0001g0285	15	360	0.0417	0	c.289 others(6): Show c.2892+6C>T		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	28/32					chr16	TogoVar
CNGB1_chr16_57877340_57976128	57904729	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0089 a0002c0005t0006g0089	1	360	0.0028	0	c.263 others(6): Show c.2634+5C>T		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	26/32					chr16	TogoVar
CNGB1_chr16_57877340_57976128	57920544	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01123.hp2 HG01891.hp1 HG02055.hp2 others(32): Show HG01123.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0006 a0009 a0012 a0015 a0018 a0022 a0024 a0027 a0029 a0038 a0043 a0049	a0001c0015 a0001c0016 a0001c0027 others(23): Show a0001c0015 a0001c0016 a0001c0027 a0001c0041 a0001c0053 a0002c0109 a0002c0113 a0002c0114 a0004c0014 a0004c0044 a0004c0045 a0004c0046 a0006c0081 a0006c0082 a0009c0026 a0009c0077 a0012c0115 a0015c0031 a0018c0055 a0022c0050 a0024c0047 a0027c0078 a0029c0088 a0038c0056 a0043c0076 a0049c0108	a0001c0015t0001 a0001c0015t0002 a0001c0015t0020 others(30): Show a0001c0015t0001 a0001c0015t0002 a0001c0015t0020 a0001c0016t0004 a0001c0016t0010 a0001c0016t0046 a0001c0027t0003 a0001c0027t0040 a0001c0041t0005 a0001c0053t0004 a0002c0109t0004 a0002c0113t0003 a0002c0114t0010 a0004c0014t0001 a0004c0014t0005 a0004c0014t0016 a0004c0044t0004 a0004c0045t0003 a0004c0046t0036 a0006c0081t0021 a0006c0082t0010 a0009c0026t0004 a0009c0077t0004 a0012c0115t0045 a0015c0031t0004 a0018c0055t0025 a0022c0050t0003 a0024c0047t0034 a0027c0078t0011 a0029c0088t0007 a0038c0056t0011 a0043c0076t0003 a0049c0108t0004	a0001c0015t0001g0335 a0001c0015t0002g0006 a0001c0015t0020g0336 others(32): Show a0001c0015t0001g0335 a0001c0015t0002g0006 a0001c0015t0020g0336 a0001c0016t0004g0313 a0001c0016t0010g0057 a0001c0016t0046g0054 a0001c0027t0003g0058 a0001c0027t0040g0078 a0001c0041t0005g0028 a0001c0053t0004g0200 a0002c0109t0004g0108 a0002c0113t0003g0318 a0002c0114t0010g0357 a0004c0014t0001g0345 a0004c0014t0005g0346 a0004c0014t0016g0326 a0004c0044t0004g0343 a0004c0045t0003g0342 a0004c0046t0036g0348 a0006c0081t0021g0331 a0006c0082t0010g0337 a0009c0026t0004g0059 a0009c0026t0004g0310 a0009c0077t0004g0060 a0012c0115t0045g0111 a0015c0031t0004g0333 a0015c0031t0004g0334 a0018c0055t0025g0042 a0022c0050t0003g0352 a0024c0047t0034g0350 a0027c0078t0011g0353 a0029c0088t0007g0210 a0038c0056t0011g0047 a0043c0076t0003g0055 a0049c0108t0004g0061	35	360	0.0972	0	c.164 others(4): Show c.1644T>C	p.Asp others(6): Show p.Asp548Asp	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	19/33	1721/5657	1644/3756	548/1251		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57931881	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03017.hp2 HG04228.hp2 HG03017.hp2 HG04228.hp2	a0003 a0036 a0003 a0036	a0003c0104 a0036c0067 a0003c0104 a0036c0067	a0003c0104t0007 a0036c0067t0002 a0003c0104t0007 a0036c0067t0002	a0003c0104t0007g0218 a0036c0067t0002g0051 a0003c0104t0007g0218 a0036c0067t0002g0051	2	360	0.0056	0	c.137 others(6): Show c.1373-3C>A		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	16/32					chr16	TogoVar
CNGB1_chr16_57877340_57976128	57949447	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0004 a0015c0031t0004	a0015c0031t0004g0333 a0015c0031t0004g0334 a0015c0031t0004g0333 a0015c0031t0004g0334	2	360	0.0056	0	c.103 others(6): Show c.1035-8C>T		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	13/32					chr16	TogoVar
CNGB1_chr16_57877340_57976128	57960833	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02615.hp2 HG02717.hp2 others(5): Show HG02280.hp2 HG02615.hp2 HG02717.hp2 HG02818.hp2 HG03130.hp2 HG03453.hp1 HG03516.hp1 NA19043.hp2	a0006 a0028 a0029 a0006 a0028 a0029	a0006c0081 a0006c0082 a0006c0083 others(5): Show a0006c0081 a0006c0082 a0006c0083 a0006c0085 a0006c0086 a0006c0087 a0028c0084 a0029c0088	a0006c0081t0021 a0006c0082t0010 a0006c0083t0043 others(5): Show a0006c0081t0021 a0006c0082t0010 a0006c0083t0043 a0006c0085t0024 a0006c0086t0003 a0006c0087t0001 a0028c0084t0003 a0029c0088t0007	a0006c0081t0021g0331 a0006c0082t0010g0337 a0006c0083t0043g0063 others(5): Show a0006c0081t0021g0331 a0006c0082t0010g0337 a0006c0083t0043g0063 a0006c0085t0024g0209 a0006c0086t0003g0067 a0006c0087t0001g0211 a0028c0084t0003g0330 a0029c0088t0007g0210	8	360	0.0222	0	c.534 others(5): Show c.534+7C>G		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	8/32					chr16	TogoVar
CNGB1_chr16_57877340_57976128	57962834	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG03139.hp2 HG00423.hp2 HG03139.hp2	a0002 a0025 a0002 a0025	a0002c0006 a0025c0051 a0002c0006 a0025c0051	a0002c0006t0006 a0025c0051t0001 a0002c0006t0006 a0025c0051t0001	a0002c0006t0006g0323 a0025c0051t0001g0339 a0002c0006t0006g0323 a0025c0051t0001g0339	2	360	0.0056	0	c.412 others(5): Show c.412+8C>A		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	6/32					chr16	TogoVar
CNGB1_chr16_57877340_57976128	57962835	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp2 HG03139.hp2	a0025 a0025	a0025c0051 a0025c0051	a0025c0051t0001 a0025c0051t0001	a0025c0051t0001g0339 a0025c0051t0001g0339	1	360	0.0028	0	c.412 others(5): Show c.412+7A>C		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	6/32					chr16	TogoVar
CNGB1_chr16_57877340_57976128	57962969	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp2 HG03139.hp2	a0025 a0025	a0025c0051 a0025c0051	a0025c0051t0001 a0025c0051t0001	a0025c0051t0001g0339 a0025c0051t0001g0339	1	360	0.0028	0	c.381 others(5): Show c.381+5T>A		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	5/32					chr16	TogoVar
CNGB3_chr8_86569179_86748634	86726660	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG03453.hp2 HG02965.hp1 HG03453.hp2	a0006 a0009 a0006 a0009	a0006c0006 a0009c0009 a0006c0006 a0009c0009	a0006c0006t0001 a0009c0009t0002 a0006c0006t0001 a0009c0009t0002	a0006c0006t0001g0101 a0009c0009t0002g0102 a0006c0006t0001g0101 a0009c0009t0002g0102	2	288	0.0069	0	c.212 others(5): Show c.212-3T>C		CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	2/17					chr8	TogoVar
CNIH1_chr14_54418561_54446374	54441217	GCCCTCCT others(15): Show GCCCTCCTTTCCCCAGCCCCAGC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0042 a0001c0001t0010g0042	1	382	0.0026	-22	c.81+ others(32): Show c.81+8_81+29delGCTGGGGCTGGGGAAAGGAGGG		CNIH1	ENSG00000100528.12	transcript	ENST00000216416.9	protein_coding	1/4					chr14	TogoVar
CNIH2_chr11_66273175_66289206	66283241	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(47): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG02027.hp1 HG02071.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18953.hp2 NA18955.hp1 NA18972.hp2 NA18980.hp1 NA18998.hp2 NA19043.hp2 NA19070.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0068	50	420	0.1191	0	c.312 others(5): Show c.312-7G>A		CNIH2	ENSG00000174871.11	transcript	ENST00000311445.7	protein_coding	4/5					chr11	TogoVar
CNIH3_chr1_224611317_224745554	224739295	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02258.hp1 HG02572.hp2 others(15): Show HG02109.hp2 HG02258.hp1 HG02572.hp2 HG02602.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03831.hp1 NA18944.hp2 NA18972.hp1 NA18978.hp1 NA18993.hp1 NA19012.hp1 NA19078.hp1 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0007 a0001c0001t0001g0130 a0001c0001t0001g0137 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0168 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0283 a0001c0001t0002g0186 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0007g0030 a0001c0001t0016g0199 a0001c0001t0019g0082	18	358	0.0503	1	c.456 others(6): Show c.456-9dupT		CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding	5/5				INFO_REALIGN_3_PRIME	chr1	TogoVar
CNIH4_chr1_224351879_224384452	224365873	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0068 a0001c0001t0025g0068	1	324	0.0031	0	c.139 others(5): Show c.139-6T>C		CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	2/4					chr1	TogoVar
CNKSR1_chr1_26172491_26194884	26180903	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG02257.hp2 HG03516.hp2 others(2): Show HG00639.hp2 HG02257.hp2 HG03516.hp2 NA18906.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0039 a0002c0002t0001g0023 a0002c0002t0001g0039	5	372	0.0134	0	c.392 others(5): Show c.392+7G>A		CNKSR1	ENSG00000142675.18	transcript	ENST00000361530.11	protein_coding	3/20					chr1	TogoVar

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