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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CA5A_chr16_87883013_87941529	87929871	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG01109.hp2 others(46): Show HG00642.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG02056.hp1 HG02071.hp2 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 NA18906.hp1 NA18956.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19240.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0003c0006 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0002 a0002c0005t0001 a0002c0005t0003 a0003c0006t0001 a0005c0008t0001	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0047 others(46): Show a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0101 a0001c0001t0001g0179 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0251 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0298 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0003g0049 a0001c0002t0002g0177 a0001c0002t0002g0296 a0001c0002t0002g0331 a0001c0002t0002g0333 a0001c0002t0002g0354 a0001c0003t0002g0041 a0001c0003t0002g0067 a0001c0003t0002g0086 a0001c0003t0002g0332 a0002c0005t0001g0014 a0002c0005t0001g0015 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0003g0020 a0003c0006t0001g0004 a0003c0006t0001g0005 a0003c0006t0001g0006 a0005c0008t0001g0050 a0005c0008t0001g0052	49	400	0.1225	5	c.143 others(22): Show c.143-2931_143-2927dupTTTTT	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	1/6			chr16	TogoVar
CA5B_chrX_15733270_15793411	15734012	T T	TTTTTG TTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp1 others(66): Show HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01261.hp1 HG01928.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG03490.hp1 HG03669.hp1 HG03942.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18974.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19077.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0024 a0001c0002t0025 a0003c0005t0002	a0001c0001t0001g0006 a0001c0001t0001g0156 a0001c0001t0001g0181 others(62): Show a0001c0001t0001g0006 a0001c0001t0001g0156 a0001c0001t0001g0181 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0243 a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0004g0009 a0001c0002t0004g0176 a0001c0002t0004g0186 a0001c0002t0004g0201 a0001c0002t0004g0202 a0001c0002t0004g0205 a0001c0002t0004g0232 a0001c0002t0004g0240 a0001c0002t0024g0196 a0001c0002t0025g0191 a0003c0005t0002g0189	69	274	0.2518	5	c.-43 others(16): Show c.-4394_-4393insTTTTG	CA5B	ENSG00000169239.14	transcript	ENST00000318636.8	protein_coding		4257		chrX	TogoVar
CA5B_chrX_15733270_15793411	15745183	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(113): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18965.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18995.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0003 a0001c0001 a0001c0002 a0004c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0032 a0001c0001t0033 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0004c0003t0007	a0001c0001t0001g0006 a0001c0001t0001g0156 a0001c0001t0001g0181 others(108): Show a0001c0001t0001g0006 a0001c0001t0001g0156 a0001c0001t0001g0181 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0243 a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0062 a0001c0001t0003g0260 a0001c0001t0010g0026 a0001c0001t0010g0027 a0001c0001t0014g0050 a0001c0001t0016g0022 a0001c0001t0032g0063 a0001c0001t0033g0004 a0001c0002t0002g0001 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0256 a0001c0002t0004g0009 a0001c0002t0004g0060 a0001c0002t0004g0176 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0201 a0001c0002t0004g0202 a0001c0002t0004g0205 a0001c0002t0004g0218 a0001c0002t0004g0232 a0001c0002t0004g0240 a0001c0002t0007g0165 a0001c0002t0007g0206 a0001c0002t0007g0224 a0001c0002t0007g0231 a0001c0002t0007g0235 a0001c0002t0026g0172 a0001c0002t0027g0219 a0001c0002t0028g0180 a0004c0003t0007g0237	116	274	0.4234	5	c.-53 others(22): Show c.-53-4763_-53-4759dupGAAAA	CA5B	ENSG00000169239.14	transcript	ENST00000318636.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
CA5B_chrX_15733270_15793411	15759734	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG03486.hp1 others(2): Show HG02970.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010	a0001c0001t0008g0039 a0001c0001t0009g0031 a0001c0001t0009g0056 others(2): Show a0001c0001t0008g0039 a0001c0001t0009g0031 a0001c0001t0009g0056 a0001c0001t0009g0058 a0001c0001t0010g0027	5	274	0.0183	5	c.143 others(22): Show c.143-4816_143-4812dupTTTTT	CA5B	ENSG00000169239.14	transcript	ENST00000318636.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
CA6_chr1_8940868_8980092	8947850	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02280.hp2 others(10): Show HG01891.hp2 HG02145.hp2 HG02280.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 NA19030.hp1 NA19043.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0008c0011 a0008c0012 a0002c0001 a0008c0011 a0008c0012	a0002c0001t0001 a0008c0011t0001 a0008c0012t0001 a0002c0001t0001 a0008c0011t0001 a0008c0012t0001	a0002c0001t0001g0416 a0002c0001t0001g0417 a0008c0011t0001g0015 others(9): Show a0002c0001t0001g0416 a0002c0001t0001g0417 a0008c0011t0001g0015 a0008c0011t0001g0432 a0008c0011t0001g0434 a0008c0011t0001g0435 a0008c0011t0001g0436 a0008c0012t0001g0428 a0008c0012t0001g0429 a0008c0012t0001g0430 a0008c0012t0001g0431 a0008c0012t0001g0433	13	452	0.0288	5	c.80- others(20): Show c.80-1402_80-1398dupTTTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8973784	C C	CTTTCT CTTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00621.hp1 others(22): Show HG00099.hp2 HG00140.hp2 HG00621.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01192.hp2 HG01358.hp2 HG01993.hp1 HG02132.hp2 HG03130.hp1 HG03491.hp2 HG03492.hp1 HG03927.hp1 NA18951.hp1 NA18967.hp2 NA18971.hp1 NA18980.hp1 NA19000.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp1 NA19085.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0002 a0001c0006 a0002c0001 others(3): Show a0001c0002 a0001c0006 a0002c0001 a0003c0003 a0004c0008 a0007c0007	a0001c0002t0002 a0001c0006t0003 a0002c0001t0001 others(5): Show a0001c0002t0002 a0001c0006t0003 a0002c0001t0001 a0002c0001t0002 a0003c0003t0002 a0003c0003t0008 a0004c0008t0001 a0007c0007t0008	a0001c0002t0002g0181 a0001c0006t0003g0179 a0001c0006t0003g0287 others(20): Show a0001c0002t0002g0181 a0001c0006t0003g0179 a0001c0006t0003g0287 a0002c0001t0001g0242 a0002c0001t0001g0301 a0002c0001t0001g0384 a0002c0001t0002g0010 a0002c0001t0002g0126 a0002c0001t0002g0410 a0003c0003t0002g0036 a0003c0003t0002g0044 a0003c0003t0002g0052 a0003c0003t0002g0056 a0003c0003t0002g0059 a0003c0003t0002g0061 a0003c0003t0002g0069 a0003c0003t0002g0081 a0003c0003t0002g0085 a0003c0003t0002g0088 a0003c0003t0002g0124 a0003c0003t0008g0120 a0004c0008t0001g0007 a0007c0007t0008g0191	25	452	0.0553	5	c.845 others(20): Show c.845-835_845-834insCTTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AGAAAG AGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01978.hp2 NA18952.hp2 others(1): Show HG01255.hp2 HG01978.hp2 NA18952.hp2 NA18979.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0006 a0002c0001 others(1): Show a0001c0002 a0001c0006 a0002c0001 a0003c0003	a0001c0002t0001 a0001c0006t0001 a0002c0001t0002 others(1): Show a0001c0002t0001 a0001c0006t0001 a0002c0001t0002 a0003c0003t0002	a0001c0002t0001g0321 a0001c0006t0001g0340 a0002c0001t0002g0280 others(1): Show a0001c0002t0001g0321 a0001c0006t0001g0340 a0002c0001t0002g0280 a0003c0003t0002g0078	4	452	0.0089	5	c.29 others(16): Show c.2996_*2997insGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CA6_chr1_8940868_8980092	8978672	A A	AAAAAC AAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00738.hp1 NA18998.hp1 others(5): Show HG00558.hp2 HG00738.hp1 NA18998.hp1 NA19030.hp2 NA19055.hp1 NA19070.hp2 NA19091.hp1 NA19240.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0001 a0004c0009 a0004c0017 others(1): Show a0002c0001 a0004c0009 a0004c0017 a0005c0005	a0002c0001t0001 a0004c0009t0001 a0004c0017t0001 others(1): Show a0002c0001t0001 a0004c0009t0001 a0004c0017t0001 a0005c0005t0001	a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0240 others(5): Show a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0240 a0002c0001t0001g0251 a0002c0001t0001g0326 a0004c0009t0001g0208 a0004c0017t0001g0223 a0005c0005t0001g0046	8	452	0.0177	5	c.39 others(16): Show c.3968_*3969insAAAAC	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		3581		chr1	TogoVar
CAAP1_chr9_26835685_26897802	26847198	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00738.hp2 others(20): Show HG00099.hp2 HG00280.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01978.hp2 HG02129.hp2 HG02300.hp1 HG02818.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp1 HG04184.hp2 NA18951.hp2 NA18968.hp1 NA18990.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0004 a0001c0001t0001g0134 a0001c0001t0001g0147 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0002g0010 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0016g0184	23	372	0.0618	5	c.740 others(22): Show c.740-4556_740-4552dupAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TATATC TATATC	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA20905.hp2 NA21309.hp1 HG02717.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0258 a0001c0001t0002g0272 a0001c0001t0004g0103 a0001c0001t0002g0258 a0001c0001t0002g0272 a0001c0001t0004g0103	3	324	0.0093	5	c.565 others(22): Show c.565-1887_565-1883dupGATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49439921	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02896.hp1 HG02897.hp2 others(8): Show HG02055.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03209.hp1 NA18946.hp1 NA19000.hp2 NA19009.hp1 NA19078.hp1 NA19078.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0174 a0001c0001t0002g0115 others(8): Show a0001c0001t0001g0050 a0001c0001t0001g0174 a0001c0001t0002g0115 a0001c0001t0002g0141 a0001c0001t0002g0175 a0001c0001t0004g0062 a0001c0001t0004g0299 a0001c0001t0006g0104 a0001c0002t0001g0086 a0001c0002t0001g0138 a0001c0002t0001g0173	11	324	0.0340	5	c.-24 others(24): Show c.-246+4060_-246+4064dupAAAAA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49442797	A A	AAAAAC AAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02451.hp2 others(7): Show HG02109.hp1 HG02257.hp1 HG02451.hp2 HG02622.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0284 a0001c0001t0002g0278 a0001c0001t0002g0279 others(7): Show a0001c0001t0001g0284 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0006g0277 a0001c0001t0006g0280 a0001c0001t0006g0282 a0001c0001t0006g0283	10	324	0.0309	5	c.-24 others(24): Show c.-246+1188_-246+1189insGTTTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230783442	A A	AGTTTT AGTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp2 others(98): Show HG00280.hp1 HG00408.hp2 HG00558.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02683.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18985.hp2 NA18986.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19080.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0041 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0035 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0259 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0034 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0105 a0001c0001t0002g0285 a0001c0001t0002g0313 a0001c0001t0004g0020 a0001c0001t0004g0046 a0001c0001t0004g0055 a0001c0001t0004g0070 a0001c0001t0004g0086 a0001c0001t0004g0103 a0001c0001t0004g0117 a0001c0001t0004g0300 a0001c0001t0005g0143 a0001c0001t0007g0141 a0001c0001t0007g0156 a0001c0001t0008g0045 a0001c0001t0008g0062 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0008g0111 a0001c0001t0008g0267 a0001c0001t0008g0337 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0010g0092 a0001c0001t0011g0309 a0001c0001t0014g0150 a0001c0001t0014g0151 a0001c0001t0022g0146 a0001c0001t0022g0147 a0001c0001t0023g0060 a0001c0001t0025g0134 a0001c0001t0025g0135 a0001c0001t0027g0032 a0001c0001t0027g0061 a0001c0001t0034g0305 a0001c0001t0035g0097 a0001c0001t0037g0019 a0001c0001t0041g0308 a0001c0001t0049g0239 a0001c0001t0050g0036 a0001c0001t0051g0067 a0001c0001t0052g0107 a0001c0001t0054g0137 a0001c0001t0055g0136 a0001c0001t0058g0015 a0001c0002t0001g0059 a0001c0002t0001g0064 a0001c0002t0001g0083 a0001c0002t0001g0108	101	342	0.2953	5	c.115 others(22): Show c.115-7395_115-7391dupTGTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230813978	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18986.hp1 NA19054.hp2 others(3): Show HG01081.hp1 NA18986.hp1 NA19054.hp2 NA19058.hp1 NA19084.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0033 a0001c0001t0001g0074 a0001c0001t0001g0075 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0002g0090 a0001c0001t0004g0046	6	342	0.0175	5	c.628 others(18): Show c.628-41_628-37dupTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230825154	C C	CAAAAA CAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG02027.hp2 HG02080.hp2 others(36): Show HG01069.hp2 HG02027.hp2 HG02080.hp2 HG02129.hp2 NA18943.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19054.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0064 a0001c0002t0001	a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0186 others(36): Show a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0006g0197 a0001c0001t0006g0211 a0001c0001t0006g0217 a0001c0001t0006g0225 a0001c0001t0015g0115 a0001c0001t0015g0263 a0001c0001t0015g0335 a0001c0001t0016g0165 a0001c0001t0016g0184 a0001c0001t0016g0185 a0001c0001t0064g0183 a0001c0002t0001g0059	39	342	0.1140	5	c.64 others(16): Show c.6450_*6451insAAAAA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4080		chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61720917	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(40): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00621.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01192.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01975.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02258.hp2 HG02300.hp2 HG02615.hp2 HG02895.hp2 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04228.hp2 NA18941.hp2 NA18944.hp2 NA18974.hp1 NA18983.hp2 NA19000.hp2 NA19043.hp1 NA19065.hp2 NA19077.hp2 NA19085.hp2 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(40): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0301 a0001c0001t0001g0365 a0001c0001t0004g0361 a0001c0001t0004g0364	43	374	0.1150	5	c.552 others(24): Show c.552+30317_552+30321dupTTTTT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24073567	C C	CTAGGA CTAGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02922.hp2 HG02257.hp1 HG02559.hp2 HG02922.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0121 a0005c0013t0001g0122 a0005c0013t0001g0123 a0005c0013t0001g0121 a0005c0013t0001g0122 a0005c0013t0001g0123	3	268	0.0112	5	c.263 others(24): Show c.2632+1060_2632+1064dupGGATA	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24179132	A A	ATTTTT ATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01175.hp2 HG02895.hp2 others(9): Show HG00597.hp1 HG01175.hp2 HG02895.hp2 HG02965.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp1 HG03942.hp2 NA18955.hp1 NA18967.hp2 NA18975.hp1 NA19007.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0014 a0002c0002 a0010c0033	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 a0001c0014t0001 a0002c0002t0001 a0010c0033t0005	a0001c0001t0001g0134 a0001c0003t0001g0126 a0001c0003t0001g0127 others(9): Show a0001c0001t0001g0134 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0152 a0001c0004t0001g0230 a0001c0008t0001g0248 a0001c0008t0001g0256 a0001c0014t0001g0143 a0002c0002t0001g0187 a0010c0033t0005g0197	12	268	0.0448	5	c.93 others(14): Show c.936_*937insTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		505		chr22	TogoVar
CABLES1_chr18_23130485_23265470	23132938	A A	AAAAAC AAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01099.hp1 others(6): Show HG00642.hp1 HG00735.hp1 HG01099.hp1 HG01884.hp2 HG01891.hp1 HG02922.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 others(3): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0021 a0001c0001t0032 a0001c0001t0034	a0001c0001t0007g0164 a0001c0001t0010g0167 a0001c0001t0010g0168 others(6): Show a0001c0001t0007g0164 a0001c0001t0010g0167 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0171 a0001c0001t0020g0173 a0001c0001t0021g0166 a0001c0001t0032g0170 a0001c0001t0034g0165	9	278	0.0324	5	c.-28 others(16): Show c.-2825_-2824insAAAAC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding		2546		chr18	TogoVar
CABLES1_chr18_23130485_23265470	23181496	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG00741.hp1 others(17): Show HG00597.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01361.hp2 HG01981.hp1 HG02135.hp1 HG02165.hp1 HG02523.hp1 HG02895.hp2 HG03239.hp1 HG03471.hp2 HG03540.hp2 NA19002.hp2 NA19043.hp1 NA19057.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0006 others(1): Show a0001c0001 a0002c0002 a0003c0006 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019 a0001c0001t0039 a0001c0001t0055 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0002t0012 a0002c0002t0050 a0003c0006t0048 a0007c0010t0004	a0001c0001t0001g0018 a0001c0001t0003g0100 a0001c0001t0004g0219 others(17): Show a0001c0001t0001g0018 a0001c0001t0003g0100 a0001c0001t0004g0219 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0231 a0001c0001t0019g0126 a0001c0001t0039g0200 a0001c0001t0055g0080 a0002c0002t0001g0089 a0002c0002t0001g0114 a0002c0002t0001g0161 a0002c0002t0002g0091 a0002c0002t0003g0093 a0002c0002t0006g0178 a0002c0002t0008g0092 a0002c0002t0012g0157 a0002c0002t0050g0090 a0003c0006t0048g0264 a0007c0010t0004g0177	20	278	0.0719	5	c.846 others(22): Show c.846-7315_846-7311dupAAAAA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23193194	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01515.hp1 others(12): Show HG00621.hp2 HG00735.hp1 HG01515.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG03017.hp2 HG03453.hp2 HG03834.hp1 NA18971.hp2 NA18985.hp2 NA19030.hp2 NA19065.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 others(1): Show a0001c0001 a0002c0002 a0003c0006 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0049 a0002c0002t0003 a0003c0006t0048 a0003c0006t0057 a0003c0009t0043	a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0276 others(12): Show a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0002g0258 a0001c0001t0004g0238 a0001c0001t0006g0273 a0001c0001t0008g0163 a0001c0001t0012g0007 a0001c0001t0014g0275 a0001c0001t0021g0166 a0001c0001t0049g0242 a0002c0002t0003g0125 a0003c0006t0048g0264 a0003c0006t0057g0266 a0003c0009t0043g0265	15	278	0.0540	5	c.918 others(22): Show c.918-1244_918-1240dupTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23248512	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01884.hp2 others(2): Show HG00642.hp2 HG00741.hp2 HG01884.hp2 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0019	a0001c0001t0002g0034 a0001c0001t0005g0208 a0001c0001t0010g0168 others(2): Show a0001c0001t0002g0034 a0001c0001t0005g0208 a0001c0001t0010g0168 a0001c0001t0010g0171 a0001c0001t0019g0126	5	278	0.0180	5	c.144 others(24): Show c.1447-4426_1447-4422dupTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23253671	T T	TTCGAG TTCGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp2 HG01891.hp1 others(2): Show HG00642.hp2 HG01884.hp2 HG01891.hp1 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0034 a0001c0001t0010g0167 a0001c0001t0010g0168 others(2): Show a0001c0001t0002g0034 a0001c0001t0010g0167 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0171	5	278	0.0180	5	c.155 others(20): Show c.1554-58_1554-57insTCGAG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	8/9			chr18	TogoVar
CABP5_chr19_48024383_48049079	48029280	A A	AAAAAT AAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01433.hp1 HG02818.hp1 others(4): Show HG00733.hp2 HG01433.hp1 HG02818.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0030 a0001c0005t0059 others(2): Show a0001c0005t0029 a0001c0005t0030 a0001c0005t0059 a0001c0005t0060 a0001c0005t0061	a0001c0005t0029g0182 a0001c0005t0029g0186 a0001c0005t0030g0184 others(4): Show a0001c0005t0029g0182 a0001c0005t0029g0186 a0001c0005t0030g0184 a0001c0005t0030g0187 a0001c0005t0059g0185 a0001c0005t0060g0183 a0001c0005t0061g0180	7	376	0.0186	5	c.12 others(16): Show c.1276_*1277insATTTT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		102		chr19	TogoVar
CABP5_chr19_48024383_48049079	48037259	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01081.hp2 others(28): Show HG00639.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01943.hp1 HG01952.hp1 HG02451.hp1 HG02559.hp2 HG02698.hp2 HG03516.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18946.hp1 NA18952.hp2 NA18960.hp2 NA18965.hp1 NA18977.hp2 NA18994.hp2 NA19005.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0006 a0002c0003t0008 a0002c0003t0013 others(14): Show a0002c0003t0006 a0002c0003t0008 a0002c0003t0013 a0002c0003t0016 a0002c0003t0024 a0002c0003t0026 a0003c0004t0011 a0003c0004t0012 a0003c0004t0014 a0003c0004t0018 a0003c0004t0032 a0003c0004t0033 a0003c0004t0034 a0003c0004t0065 a0003c0004t0067 a0003c0004t0069 a0003c0004t0070	a0002c0003t0006g0048 a0002c0003t0006g0070 a0002c0003t0006g0073 others(27): Show a0002c0003t0006g0048 a0002c0003t0006g0070 a0002c0003t0006g0073 a0002c0003t0008g0051 a0002c0003t0008g0059 a0002c0003t0013g0054 a0002c0003t0016g0069 a0002c0003t0016g0181 a0002c0003t0024g0062 a0002c0003t0026g0063 a0003c0004t0011g0204 a0003c0004t0011g0206 a0003c0004t0011g0208 a0003c0004t0011g0212 a0003c0004t0012g0196 a0003c0004t0014g0032 a0003c0004t0014g0200 a0003c0004t0014g0203 a0003c0004t0014g0220 a0003c0004t0018g0210 a0003c0004t0018g0211 a0003c0004t0032g0198 a0003c0004t0032g0213 a0003c0004t0033g0214 a0003c0004t0033g0221 a0003c0004t0034g0087 a0003c0004t0065g0205 a0003c0004t0067g0217 a0003c0004t0069g0219 a0003c0004t0070g0207	31	376	0.0825	5	c.348 others(22): Show c.348+1944_348+1948dupAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	4/5			chr19	TogoVar
CABP7_chr22_29715003_29736833	29718319	C C	CCTTAA CCTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(368): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0042 a0001c0001t0003g0071 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0097 a0001c0001t0003g0105 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0004g0014 a0001c0001t0004g0025 a0001c0001t0004g0045 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0095 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0006g0026 a0001c0001t0006g0029 a0001c0001t0007g0021 a0001c0001t0007g0116 a0001c0001t0008g0030 a0001c0001t0008g0104 a0001c0001t0009g0027 a0001c0001t0010g0033 a0001c0001t0011g0035 a0001c0001t0012g0067 a0001c0001t0013g0001 a0001c0001t0014g0088 a0001c0001t0016g0039 a0001c0001t0017g0065 a0001c0001t0018g0003 a0001c0001t0019g0056 a0001c0001t0020g0061 a0001c0001t0021g0004 a0001c0001t0024g0101 a0001c0001t0025g0026 a0001c0001t0026g0001 a0001c0003t0001g0005	371	438	0.8470	5	c.-21 others(16): Show c.-2106_-2105insCTTAA	CABP7	ENSG00000100314.4	transcript	ENST00000216144.4	protein_coding		1683		chr22	TogoVar
CABYR_chr18_24134062_24166600	24134257	G G	GTTGTT GTTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG03139.hp1 HG03239.hp1 HG01361.hp1 HG03139.hp1 HG03239.hp1	a0001 a0001	a0001c0007 a0001c0009 a0001c0049 a0001c0007 a0001c0009 a0001c0049	a0001c0007t0001 a0001c0009t0001 a0001c0049t0001 a0001c0007t0001 a0001c0009t0001 a0001c0049t0001	a0001c0007t0001g0019 a0001c0009t0001g0247 a0001c0049t0001g0254 a0001c0007t0001g0019 a0001c0009t0001g0247 a0001c0049t0001g0254	3	408	0.0074	5	c.-48 others(16): Show c.-4886_-4885insTTGTT	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding		4804		chr18	TogoVar
CACFD1_chr9_133454978_133475848	133460238	C C	CGCCCT CGCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG04204.hp1 HG01891.hp1 HG02109.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0037 a0001c0002t0006 a0001c0001t0002 a0001c0001t0037 a0001c0002t0006	a0001c0001t0002g0115 a0001c0001t0037g0116 a0001c0002t0006g0117 a0001c0001t0002g0115 a0001c0001t0037g0116 a0001c0002t0006g0117	3	420	0.0071	5	c.121 others(18): Show c.121+61_121+65dupTGCCC	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACFD1_chr9_133454978_133475848	133460248	T T	TGCCCC TGCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02630.hp1 others(3): Show HG02145.hp1 HG02257.hp2 HG02630.hp1 HG02965.hp2 HG03139.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0036 a0001c0001t0004g0035 a0001c0001t0010g0015 others(1): Show a0001c0001t0001g0036 a0001c0001t0004g0035 a0001c0001t0010g0015 a0001c0001t0018g0015	6	420	0.0143	5	c.121 others(18): Show c.121+73_121+77dupCCCCG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACFD1_chr9_133454978_133475848	133460404	C C	CGGGCT CGGGCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18978.hp1 NA18978.hp2 HG02615.hp1 NA18978.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0064 a0001c0001t0001 a0001c0001t0008 a0001c0001t0064	a0001c0001t0001g0112 a0001c0001t0008g0113 a0001c0001t0064g0085 a0001c0001t0001g0112 a0001c0001t0008g0113 a0001c0001t0064g0085	3	420	0.0071	5	c.121 others(20): Show c.121+230_121+234dupGCTGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACHD1_chr1_64465129_64698053	64505379	T T	TGGAGG TGGAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02559.hp2 others(10): Show HG02109.hp2 HG02257.hp1 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03195.hp1 HG03195.hp2 NA18906.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0003c0010t0001	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0080 others(10): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0003g0099 a0001c0001t0003g0155 a0001c0002t0001g0083 a0001c0003t0001g0078 a0001c0003t0001g0079 a0003c0010t0001g0088	13	166	0.0783	5	c.198 others(24): Show c.198+34456_198+34460dupGGGGA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64505847	T T	TCGCCC TCGCCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02257.hp2 HG02559.hp1 others(9): Show HG01192.hp2 HG02257.hp2 HG02559.hp1 HG02647.hp2 HG02895.hp1 HG03130.hp1 HG03453.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA19060.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0019 a0001c0002t0011 a0001c0003t0001 a0001c0003t0004 a0001c0004t0012	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0060 others(9): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0004g0108 a0001c0001t0013g0114 a0001c0001t0019g0109 a0001c0002t0011g0145 a0001c0003t0001g0061 a0001c0003t0004g0117 a0001c0004t0012g0115	12	166	0.0723	5	c.198 others(24): Show c.198+34930_198+34934dupCCGCC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64521975	G G	GTTTAA GTTTAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(138): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA19002.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19070.hp1 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0011 a0003c0010 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0012 a0001c0007t0007 a0001c0008t0001 a0002c0011t0002 a0003c0010t0001 a0005c0006t0004	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(138): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0165 a0001c0001t0003g0028 a0001c0001t0003g0064 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0003g0155 a0001c0001t0003g0162 a0001c0001t0004g0057 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0070 a0001c0001t0006g0075 a0001c0001t0006g0133 a0001c0001t0007g0122 a0001c0001t0007g0130 a0001c0001t0007g0131 a0001c0001t0009g0093 a0001c0001t0010g0037 a0001c0001t0010g0135 a0001c0001t0011g0029 a0001c0001t0013g0046 a0001c0001t0015g0048 a0001c0001t0016g0014 a0001c0001t0018g0101 a0001c0001t0019g0109 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0042 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0001g0102 a0001c0002t0001g0112 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0002g0038 a0001c0002t0002g0128 a0001c0002t0002g0137 a0001c0002t0002g0144 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0003g0063 a0001c0002t0004g0030 a0001c0002t0005g0004 a0001c0002t0005g0007 a0001c0002t0006g0069 a0001c0002t0009g0098 a0001c0003t0001g0034 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0061 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0084 a0001c0003t0001g0106 a0001c0003t0002g0124 a0001c0003t0002g0139 a0001c0003t0002g0152 a0001c0003t0004g0146 a0001c0003t0004g0147 a0001c0004t0012g0121 a0001c0007t0007g0123 a0001c0008t0001g0090 a0002c0011t0002g0036 a0003c0010t0001g0088 a0005c0006t0004g0041	141	166	0.8494	5	c.199 others(24): Show c.199-28615_199-28614insATTTA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64566458	G G	GCTCCA GCTCCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG06807.hp2 HG02280.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0115 a0001c0004t0012g0121 a0001c0004t0012g0115 a0001c0004t0012g0121	2	166	0.0121	5	c.262 others(24): Show c.262-15695_262-15691dupCCACT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64566479	T T	TCCCCC TCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01261.hp1 others(8): Show HG00140.hp2 HG00735.hp2 HG01261.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp1 HG02886.hp1 HG04199.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0005c0006t0004	a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0002g0165 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0002g0165 a0001c0001t0003g0089 a0001c0001t0003g0155 a0001c0001t0009g0093 a0001c0002t0001g0031 a0001c0002t0001g0096 a0001c0002t0004g0030 a0001c0003t0001g0051 a0005c0006t0004g0041	11	166	0.0663	5	c.262 others(24): Show c.262-15670_262-15666dupCCCCC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64590659	G G	GGTTTT GGTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp2 NA19030.hp1 HG02258.hp2 HG02647.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0019 a0001c0001t0003 a0001c0001t0016 a0001c0001t0019	a0001c0001t0003g0162 a0001c0001t0016g0014 a0001c0001t0019g0109 a0001c0001t0003g0162 a0001c0001t0016g0014 a0001c0001t0019g0109	3	166	0.0181	5	c.410 others(22): Show c.410+8381_410+8385dupGTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64594270	G G	GAAAGA GAAAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0078 a0001c0003t0001g0079	2	166	0.0121	5	c.411 others(22): Show c.411-8533_411-8529dupAGAAA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64598819	T T	TAAATA TAAATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18955.hp2 HG00597.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0119 a0001c0001t0006g0133 a0001c0001t0001g0119 a0001c0001t0006g0133	2	166	0.0121	5	c.411 others(22): Show c.411-3987_411-3986insAAATA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	3/26			chr1	TogoVar
CACHD1_chr1_64465129_64698053	64643036	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01168.hp2 HG01192.hp1 others(6): Show HG00621.hp2 HG01168.hp2 HG01192.hp1 HG02040.hp2 HG02056.hp1 HG02486.hp1 HG02886.hp1 HG03098.hp2 HG04199.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0005c0006t0004	a0001c0001t0001g0040 a0001c0001t0008g0005 a0001c0001t0008g0010 others(6): Show a0001c0001t0001g0040 a0001c0001t0008g0005 a0001c0001t0008g0010 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0096 a0001c0002t0002g0144 a0001c0002t0006g0069 a0005c0006t0004g0041	9	166	0.0542	5	c.115 others(24): Show c.1156+1098_1156+1102dupAAAAA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13202280	T T	TCTATC TCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02896.hp2 HG02572.hp2 HG02896.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0111 a0001c0001 a0014c0111	a0001c0001t0001 a0014c0111t0004 a0001c0001t0001 a0014c0111t0004	a0001c0001t0001g0030 a0014c0111t0004g0210 a0001c0001t0001g0030 a0014c0111t0004g0210	2	218	0.0092	5	c.50 others(16): Show c.5032_*5033insGATAG	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4161		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13227903	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01981.hp2 HG02293.hp2 others(3): Show HG00735.hp1 HG01981.hp2 HG02293.hp2 HG03195.hp2 NA18979.hp2 NA18995.hp1	a0001 a0005 a0018 a0001 a0005 a0018	a0001c0001 a0001c0004 a0001c0020 others(2): Show a0001c0001 a0001c0004 a0001c0020 a0005c0033 a0018c0017	a0001c0001t0001 a0001c0001t0004 a0001c0004t0015 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0015 a0001c0020t0001 a0005c0033t0011 a0018c0017t0014	a0001c0001t0001g0019 a0001c0001t0004g0017 a0001c0004t0015g0140 others(3): Show a0001c0001t0001g0019 a0001c0001t0004g0017 a0001c0004t0015g0140 a0001c0020t0001g0188 a0005c0033t0011g0170 a0018c0017t0014g0212	6	218	0.0275	5	c.552 others(22): Show c.5529-381_5529-377dupAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	36/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13238595	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(37): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0030 a0031 a0033 a0034 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0045	a0001c0001 a0001c0004 a0001c0005 others(103): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0016 a0001c0018 a0001c0020 a0001c0026 a0001c0031 a0001c0034 a0001c0038 a0001c0049 a0001c0072 a0001c0098 a0001c0099 a0001c0120 a0001c0122 a0001c0125 a0001c0126 a0002c0002 a0002c0003 a0002c0010 a0002c0019 a0002c0030 a0002c0032 a0002c0050 a0002c0070 a0002c0101 a0002c0104 a0002c0114 a0002c0124 a0003c0013 a0003c0015 a0003c0035 a0003c0046 a0003c0056 a0003c0073 a0003c0077 a0003c0084 a0003c0094 a0003c0105 a0003c0108 a0003c0110 a0004c0007 a0004c0047 a0004c0080 a0004c0123 a0005c0022 a0005c0024 a0005c0033 a0005c0066 a0005c0102 a0006c0011 a0006c0029 a0006c0060 a0006c0121 a0007c0009 a0007c0075 a0007c0100 a0007c0118 a0008c0008 a0008c0012 a0009c0014 a0009c0051 a0009c0076 a0010c0053 a0010c0083 a0010c0107 a0010c0128 a0011c0025 a0011c0043 a0011c0103 a0012c0023 a0012c0065 a0013c0027 a0013c0089 a0014c0048 a0014c0111 a0014c0115 a0015c0021 a0016c0028 a0017c0127 a0018c0017 a0019c0079 a0020c0074 a0020c0078 a0021c0092 a0022c0095 a0023c0113 a0024c0059 a0025c0041 a0026c0042 a0027c0064 a0030c0062 a0031c0061 a0033c0088 a0034c0081 a0036c0052 a0037c0087 a0038c0044 a0039c0068 a0040c0069 a0041c0067 a0042c0097 a0043c0091 a0045c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(140): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0004t0011 a0001c0004t0015 a0001c0004t0032 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0008 a0001c0005t0010 a0001c0005t0047 a0001c0006t0001 a0001c0006t0005 a0001c0006t0008 a0001c0006t0009 a0001c0006t0029 a0001c0016t0004 a0001c0018t0001 a0001c0020t0001 a0001c0026t0001 a0001c0031t0013 a0001c0031t0036 a0001c0034t0001 a0001c0038t0007 a0001c0049t0001 a0001c0072t0037 a0001c0098t0001 a0001c0099t0012 a0001c0120t0004 a0001c0122t0001 a0001c0125t0013 a0001c0126t0022 a0002c0002t0002 a0002c0002t0003 a0002c0002t0015 a0002c0002t0033 a0002c0003t0002 a0002c0003t0003 a0002c0003t0007 a0002c0010t0002 a0002c0019t0002 a0002c0019t0003 a0002c0030t0002 a0002c0032t0006 a0002c0050t0002 a0002c0070t0007 a0002c0101t0006 a0002c0104t0040 a0002c0114t0002 a0002c0124t0006 a0003c0013t0007 a0003c0013t0018 a0003c0013t0027 a0003c0015t0002 a0003c0015t0008 a0003c0015t0035 a0003c0035t0016 a0003c0035t0024 a0003c0046t0003 a0003c0056t0003 a0003c0073t0042 a0003c0077t0039 a0003c0084t0016 a0003c0094t0018 a0003c0105t0030 a0003c0108t0012 a0003c0110t0006 a0004c0007t0001 a0004c0007t0004 a0004c0007t0009 a0004c0007t0010 a0004c0047t0001 a0004c0080t0009 a0004c0123t0009 a0005c0022t0004 a0005c0022t0010 a0005c0024t0006 a0005c0024t0008 a0005c0033t0011 a0005c0066t0001 a0005c0102t0003 a0006c0011t0002 a0006c0011t0003 a0006c0029t0002 a0006c0029t0003 a0006c0060t0002 a0006c0121t0041 a0007c0009t0003 a0007c0009t0034 a0007c0009t0038 a0007c0075t0003 a0007c0100t0017 a0007c0118t0002 a0008c0008t0002 a0008c0012t0003 a0008c0012t0006 a0009c0014t0046 a0009c0051t0002 a0009c0076t0002 a0010c0053t0003 a0010c0083t0014 a0010c0107t0021 a0010c0128t0010 a0011c0025t0001 a0011c0043t0015 a0011c0103t0004 a0012c0023t0003 a0012c0065t0017 a0013c0027t0001 a0013c0089t0001 a0014c0048t0001 a0014c0111t0004 a0014c0115t0004 a0015c0021t0004 a0015c0021t0010 a0016c0028t0007 a0017c0127t0001 a0018c0017t0014 a0019c0079t0007 a0020c0074t0012 a0020c0078t0019 a0021c0092t0016 a0022c0095t0003 a0023c0113t0013 a0024c0059t0023 a0025c0041t0004 a0026c0042t0001 a0027c0064t0004 a0030c0062t0002 a0031c0061t0003 a0033c0088t0001 a0034c0081t0019 a0036c0052t0006 a0037c0087t0001 a0038c0044t0005 a0039c0068t0001 a0040c0069t0014 a0041c0067t0002 a0042c0097t0005 a0043c0091t0005 a0045c0036t0028	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(180): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0155 a0001c0001t0004g0218 a0001c0001t0005g0168 a0001c0004t0001g0018 a0001c0004t0001g0078 a0001c0004t0001g0080 a0001c0004t0001g0097 a0001c0004t0011g0157 a0001c0004t0015g0140 a0001c0004t0032g0081 a0001c0005t0001g0187 a0001c0005t0004g0201 a0001c0005t0005g0028 a0001c0005t0005g0135 a0001c0005t0008g0204 a0001c0005t0010g0202 a0001c0005t0047g0024 a0001c0006t0001g0032 a0001c0006t0005g0110 a0001c0006t0008g0134 a0001c0006t0008g0148 a0001c0006t0008g0217 a0001c0006t0009g0189 a0001c0006t0029g0136 a0001c0016t0004g0047 a0001c0016t0004g0074 a0001c0018t0001g0037 a0001c0018t0001g0056 a0001c0020t0001g0051 a0001c0020t0001g0188 a0001c0026t0001g0144 a0001c0031t0013g0123 a0001c0031t0036g0215 a0001c0034t0001g0068 a0001c0034t0001g0072 a0001c0038t0007g0205 a0001c0049t0001g0012 a0001c0072t0037g0213 a0001c0098t0001g0112 a0001c0099t0012g0029 a0001c0120t0004g0014 a0001c0122t0001g0174 a0001c0125t0013g0209 a0001c0126t0022g0006 a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0003g0090 a0002c0002t0003g0181 a0002c0002t0015g0160 a0002c0002t0033g0082 a0002c0003t0002g0053 a0002c0003t0002g0113 a0002c0003t0003g0061 a0002c0003t0003g0127 a0002c0003t0003g0177 a0002c0003t0007g0086 a0002c0010t0002g0054 a0002c0010t0002g0064 a0002c0019t0002g0185 a0002c0019t0003g0009 a0002c0030t0002g0158 a0002c0030t0002g0165 a0002c0032t0006g0087 a0002c0050t0002g0088 a0002c0070t0007g0102 a0002c0101t0006g0150 a0002c0104t0040g0156 a0002c0114t0002g0192 a0002c0124t0006g0132 a0003c0013t0007g0041 a0003c0013t0018g0063 a0003c0013t0027g0149 a0003c0015t0002g0167 a0003c0015t0008g0036 a0003c0015t0035g0119 a0003c0035t0016g0076 a0003c0035t0024g0005 a0003c0046t0003g0116 a0003c0056t0003g0057 a0003c0073t0042g0026 a0003c0077t0039g0022 a0003c0084t0016g0145 a0003c0094t0018g0208 a0003c0105t0030g0141 a0003c0108t0012g0211 a0003c0110t0006g0137 a0004c0007t0001g0049 a0004c0007t0001g0114 a0004c0007t0004g0105 a0004c0007t0009g0147 a0004c0007t0010g0062 a0004c0047t0001g0178 a0004c0080t0009g0129 a0004c0123t0009g0077 a0005c0022t0004g0092 a0005c0022t0010g0109 a0005c0024t0006g0117 a0005c0024t0008g0214 a0005c0033t0011g0010 a0005c0033t0011g0170 a0005c0066t0001g0034 a0005c0102t0003g0122 a0006c0011t0002g0098 a0006c0011t0002g0133 a0006c0011t0003g0070 a0006c0029t0002g0197 a0006c0029t0003g0169 a0006c0060t0002g0016 a0006c0121t0041g0042 a0007c0009t0003g0031 a0007c0009t0003g0069 a0007c0009t0034g0163 a0007c0009t0038g0153 a0007c0075t0003g0190 a0007c0100t0017g0039 a0007c0118t0002g0052 a0008c0008t0002g0065 a0008c0008t0002g0099 a0008c0008t0002g0125 a0008c0012t0003g0091 a0008c0012t0006g0120 a0009c0014t0046g0176 a0009c0051t0002g0184 a0009c0076t0002g0108 a0010c0053t0003g0186 a0010c0083t0014g0159 a0010c0107t0021g0004 a0010c0128t0010g0139 a0011c0025t0001g0093 a0011c0043t0015g0043 a0011c0103t0004g0200 a0012c0023t0003g0164 a0012c0023t0003g0180 a0012c0065t0017g0055 a0013c0027t0001g0118 a0013c0027t0001g0179 a0013c0089t0001g0143 a0014c0048t0001g0146 a0014c0111t0004g0210 a0014c0115t0004g0066 a0015c0021t0004g0044 a0015c0021t0010g0045 a0016c0028t0007g0073 a0016c0028t0007g0084 a0017c0127t0001g0007 a0018c0017t0014g0212 a0018c0017t0014g0216 a0019c0079t0007g0067 a0020c0074t0012g0161 a0020c0078t0019g0151 a0021c0092t0016g0203 a0022c0095t0003g0183 a0023c0113t0013g0096 a0024c0059t0023g0001 a0025c0041t0004g0107 a0026c0042t0001g0089 a0027c0064t0004g0101 a0030c0062t0002g0124 a0031c0061t0003g0106 a0033c0088t0001g0207 a0034c0081t0019g0152 a0036c0052t0006g0154 a0037c0087t0001g0103 a0038c0044t0005g0175 a0039c0068t0001g0171 a0040c0069t0014g0040 a0041c0067t0002g0172 a0042c0097t0005g0059 a0043c0091t0005g0027 a0045c0036t0028g0173	183	218	0.8395	5	c.495 others(24): Show c.4951-2870_4951-2866dupAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	31/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13255697	C C	CTTCCT CTTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp2 HG02451.hp2 HG03195.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0014 a0018c0017t0014	a0018c0017t0014g0212 a0018c0017t0014g0216 a0018c0017t0014g0212 a0018c0017t0014g0216	2	218	0.0092	5	c.459 others(22): Show c.4591-439_4591-438insAGGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	28/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13259312	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp1 HG01070.hp2 others(7): Show HG00609.hp1 HG01070.hp1 HG01070.hp2 HG01099.hp2 HG01123.hp2 HG01516.hp2 HG01934.hp2 HG02970.hp2 HG03516.hp1 HG03942.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0015	a0001c0005 a0001c0018 a0001c0122 others(7): Show a0001c0005 a0001c0018 a0001c0122 a0002c0030 a0004c0007 a0004c0093 a0005c0066 a0006c0011 a0006c0060 a0015c0021	a0001c0005t0008 a0001c0018t0001 a0001c0122t0001 others(7): Show a0001c0005t0008 a0001c0018t0001 a0001c0122t0001 a0002c0030t0002 a0004c0007t0004 a0004c0093t0010 a0005c0066t0001 a0006c0011t0002 a0006c0060t0002 a0015c0021t0010	a0001c0005t0008g0204 a0001c0018t0001g0056 a0001c0122t0001g0174 others(7): Show a0001c0005t0008g0204 a0001c0018t0001g0056 a0001c0122t0001g0174 a0002c0030t0002g0158 a0004c0007t0004g0105 a0004c0093t0010g0046 a0005c0066t0001g0034 a0006c0011t0002g0133 a0006c0060t0002g0016 a0015c0021t0010g0045	10	218	0.0459	5	c.438 others(22): Show c.4388+247_4388+251dupAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	27/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13271214	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp2 others(19): Show HG00099.hp2 HG00140.hp2 HG00423.hp2 HG00609.hp1 HG01496.hp1 HG01975.hp2 HG01993.hp1 HG02109.hp1 HG02451.hp2 HG02683.hp1 HG02698.hp1 HG02896.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03669.hp1 HG03831.hp1 HG04184.hp1 NA18955.hp1 NA19000.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0008 a0009 a0012 a0015 a0018 a0021 a0041	a0001c0018 a0001c0049 a0001c0098 others(14): Show a0001c0018 a0001c0049 a0001c0098 a0001c0120 a0001c0122 a0002c0002 a0002c0010 a0002c0086 a0003c0105 a0004c0093 a0008c0008 a0009c0014 a0012c0065 a0015c0021 a0018c0017 a0021c0092 a0041c0067	a0001c0018t0001 a0001c0049t0001 a0001c0098t0001 others(16): Show a0001c0018t0001 a0001c0049t0001 a0001c0098t0001 a0001c0120t0004 a0001c0122t0001 a0002c0002t0002 a0002c0002t0006 a0002c0010t0002 a0002c0010t0003 a0002c0086t0003 a0003c0105t0030 a0004c0093t0010 a0008c0008t0002 a0009c0014t0002 a0012c0065t0017 a0015c0021t0004 a0018c0017t0014 a0021c0092t0016 a0041c0067t0002	a0001c0018t0001g0037 a0001c0049t0001g0012 a0001c0098t0001g0112 others(19): Show a0001c0018t0001g0037 a0001c0049t0001g0012 a0001c0098t0001g0112 a0001c0120t0004g0014 a0001c0122t0001g0174 a0002c0002t0002g0130 a0002c0002t0006g0142 a0002c0010t0002g0054 a0002c0010t0003g0023 a0002c0086t0003g0035 a0003c0105t0030g0141 a0004c0093t0010g0046 a0008c0008t0002g0033 a0008c0008t0002g0065 a0009c0014t0002g0048 a0009c0014t0002g0195 a0012c0065t0017g0055 a0015c0021t0004g0044 a0018c0017t0014g0212 a0018c0017t0014g0216 a0021c0092t0016g0203 a0041c0067t0002g0172	22	218	0.1009	5	c.398 others(24): Show c.3989+4631_3989+4635dupAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	24/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13293439	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp1 HG01169.hp1 others(22): Show HG00438.hp1 HG01081.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01981.hp2 HG02083.hp1 HG02273.hp1 HG02698.hp1 HG02698.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp1 NA18948.hp2 NA18964.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA19012.hp1 NA19065.hp1 NA19079.hp2 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0029 a0037 a0045	a0001c0001 a0001c0004 a0001c0034 others(13): Show a0001c0001 a0001c0004 a0001c0034 a0002c0002 a0002c0003 a0003c0013 a0003c0015 a0003c0054 a0003c0110 a0004c0007 a0005c0102 a0006c0029 a0009c0014 a0029c0063 a0037c0087 a0045c0036	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0004t0032 a0001c0034t0001 a0002c0002t0002 a0002c0002t0006 a0002c0003t0003 a0003c0013t0007 a0003c0015t0002 a0003c0054t0043 a0003c0110t0006 a0004c0007t0001 a0005c0102t0003 a0006c0029t0002 a0009c0014t0002 a0029c0063t0002 a0037c0087t0001 a0045c0036t0028	a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0193 others(22): Show a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0193 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0004t0001g0097 a0001c0004t0032g0081 a0001c0034t0001g0068 a0002c0002t0002g0130 a0002c0002t0006g0142 a0002c0003t0003g0061 a0002c0003t0003g0177 a0003c0013t0007g0041 a0003c0015t0002g0167 a0003c0054t0043g0060 a0003c0110t0006g0137 a0004c0007t0001g0049 a0004c0007t0001g0114 a0005c0102t0003g0122 a0006c0029t0002g0197 a0009c0014t0002g0048 a0009c0014t0002g0195 a0029c0063t0002g0196 a0037c0087t0001g0103 a0045c0036t0028g0173	25	218	0.1147	5	c.308 others(24): Show c.3089+5100_3089+5104dupAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13294487	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp1 HG01106.hp2 others(38): Show HG00438.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01884.hp1 HG01952.hp2 HG02273.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02896.hp2 HG02976.hp2 HG03195.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18948.hp1 NA18948.hp2 NA18964.hp1 NA18968.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18995.hp2 NA19012.hp1 NA19065.hp1 NA19079.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0029 a0035 a0037	a0001c0001 a0001c0004 a0001c0005 others(21): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0026 a0001c0034 a0001c0096 a0002c0002 a0002c0003 a0002c0082 a0003c0013 a0003c0015 a0003c0035 a0003c0054 a0003c0084 a0003c0110 a0004c0007 a0004c0123 a0005c0102 a0006c0029 a0009c0014 a0029c0063 a0035c0057 a0037c0087	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(27): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0004t0015 a0001c0004t0032 a0001c0005t0005 a0001c0006t0009 a0001c0026t0031 a0001c0034t0001 a0001c0096t0025 a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0003t0003 a0002c0082t0003 a0003c0013t0007 a0003c0015t0002 a0003c0035t0016 a0003c0035t0024 a0003c0054t0043 a0003c0084t0016 a0003c0110t0006 a0004c0007t0001 a0004c0123t0009 a0005c0102t0003 a0006c0029t0002 a0009c0014t0002 a0029c0063t0002 a0035c0057t0020 a0037c0087t0001	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0115 others(38): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0013 a0001c0001t0004g0218 a0001c0004t0001g0018 a0001c0004t0001g0097 a0001c0004t0015g0140 a0001c0004t0032g0081 a0001c0005t0005g0135 a0001c0006t0009g0189 a0001c0026t0031g0104 a0001c0034t0001g0068 a0001c0096t0025g0003 a0002c0002t0002g0020 a0002c0002t0003g0181 a0002c0003t0002g0126 a0002c0003t0003g0061 a0002c0003t0003g0166 a0002c0003t0003g0177 a0002c0082t0003g0058 a0003c0013t0007g0041 a0003c0015t0002g0167 a0003c0035t0016g0076 a0003c0035t0024g0005 a0003c0054t0043g0060 a0003c0084t0016g0145 a0003c0110t0006g0137 a0004c0007t0001g0049 a0004c0007t0001g0114 a0004c0123t0009g0077 a0005c0102t0003g0122 a0006c0029t0002g0197 a0009c0014t0002g0048 a0009c0014t0002g0195 a0029c0063t0002g0196 a0035c0057t0020g0002 a0037c0087t0001g0103	41	218	0.1881	5	c.308 others(24): Show c.3089+4052_3089+4056dupAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	ATATAT ATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02040.hp2 NA18906.hp2 HG01261.hp1 HG02040.hp2 NA18906.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0099 a0007c0118 a0009c0051 a0001c0099 a0007c0118 a0009c0051	a0001c0099t0012 a0007c0118t0002 a0009c0051t0002 a0001c0099t0012 a0007c0118t0002 a0009c0051t0002	a0001c0099t0012g0029 a0007c0118t0002g0052 a0009c0051t0002g0184 a0001c0099t0012g0029 a0007c0118t0002g0052 a0009c0051t0002g0184	3	218	0.0138	5	c.166 others(24): Show c.1669-1958_1669-1957insATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	ATATAT ATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19012.hp2 NA18995.hp2 NA19012.hp2	a0002 a0031 a0002 a0031	a0002c0082 a0031c0061 a0002c0082 a0031c0061	a0002c0082t0003 a0031c0061t0003 a0002c0082t0003 a0031c0061t0003	a0002c0082t0003g0058 a0031c0061t0003g0106 a0002c0082t0003g0058 a0031c0061t0003g0106	2	218	0.0092	5	c.166 others(24): Show c.1669-1960_1669-1959insATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13313498	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02451.hp1 others(2): Show HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02723.hp2 NA19043.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0020 a0033	a0001c0071 a0002c0101 a0003c0013 others(2): Show a0001c0071 a0002c0101 a0003c0013 a0020c0078 a0033c0088	a0001c0071t0013 a0002c0101t0006 a0003c0013t0027 others(2): Show a0001c0071t0013 a0002c0101t0006 a0003c0013t0027 a0020c0078t0019 a0033c0088t0001	a0001c0071t0013g0138 a0002c0101t0006g0150 a0003c0013t0027g0149 others(2): Show a0001c0071t0013g0138 a0002c0101t0006g0150 a0003c0013t0027g0149 a0020c0078t0019g0151 a0033c0088t0001g0207	5	218	0.0229	5	c.155 others(22): Show c.1556-722_1556-718dupTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	11/46			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)