Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAMSAP3_chr19_7590863_7623304	7605177	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	358	0.0028	17	c.149 others(30): Show c.149-49_149-48insGTGTGTGTGTGTGTGTG	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16			chr19	TogoVar
CAMSAP3_chr19_7590863_7623304	7614259	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	358	0.0028	17	c.267 others(34): Show c.2671-916_2671-900dupAAAAAAAAAAAAAAAAA	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	6963270	G G	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	58	0.0172	17	c.235 others(38): Show c.235-128034_235-128033insCCCCCCCCCCCCCCCCC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22			chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7568282	T T	TCATCATC others(10): Show TCATCATCACCACATCAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02055.hp2 others(16): Show HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA19043.hp1 NA19043.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0016 a0001c0017 a0003c0012 a0005c0013	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0010 a0001c0003t0023 a0001c0006t0001 a0001c0006t0005 a0001c0016t0024 a0001c0017t0026 a0003c0012t0022 a0005c0013t0009	a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0036 others(16): Show a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0036 a0001c0001t0002g0046 a0001c0001t0005g0038 a0001c0001t0011g0058 a0001c0001t0012g0019 a0001c0002t0003g0006 a0001c0002t0003g0025 a0001c0002t0004g0030 a0001c0003t0001g0012 a0001c0003t0010g0035 a0001c0003t0023g0045 a0001c0006t0001g0055 a0001c0006t0005g0057 a0001c0016t0024g0053 a0001c0017t0026g0027 a0003c0012t0022g0017 a0005c0013t0009g0033	19	58	0.3276	17	c.511 others(36): Show c.511-72112_511-72096dupTCACCACATCACCATCA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7579552	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG03486.hp1 HG01884.hp1 HG02630.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0013g0056 a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0013g0056	3	58	0.0517	17	c.511 others(36): Show c.511-60839_511-60823dupTTTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAND2_chr3_12791680_12839803	12812221	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG01496.hp1 others(11): Show HG01069.hp1 HG01243.hp2 HG01496.hp1 HG02040.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 NA18953.hp1 NA18964.hp1 NA18999.hp1 NA19062.hp2 NA19070.hp1 NA19080.hp2 NA19087.hp2	a0008 a0012 a0018 others(2): Show a0008 a0012 a0018 a0038 a0039	a0008c0008 a0012c0014 a0018c0021 others(2): Show a0008c0008 a0012c0014 a0018c0021 a0038c0050 a0039c0051	a0008c0008t0001 a0008c0008t0003 a0012c0014t0001 others(3): Show a0008c0008t0001 a0008c0008t0003 a0012c0014t0001 a0018c0021t0001 a0038c0050t0001 a0039c0051t0003	a0008c0008t0001g0014 a0008c0008t0001g0015 a0008c0008t0001g0021 others(11): Show a0008c0008t0001g0014 a0008c0008t0001g0015 a0008c0008t0001g0021 a0008c0008t0001g0022 a0008c0008t0001g0024 a0008c0008t0001g0029 a0008c0008t0001g0030 a0008c0008t0003g0023 a0012c0014t0001g0028 a0012c0014t0001g0035 a0018c0021t0001g0031 a0018c0021t0001g0032 a0038c0050t0001g0019 a0039c0051t0003g0027	14	378	0.0370	17	c.758 others(32): Show c.758-766_758-750dupTTTTTTTTTTTTTTTTT	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANT1_chr17_78986716_79014764	79004827	G G	GAGGGGGG others(10): Show GAGGGGGGTTAGGGAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18948.hp1 HG02886.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0020 a0001c0002t0002 a0001c0002t0020	a0001c0002t0002g0074 a0001c0002t0020g0232 a0001c0002t0002g0074 a0001c0002t0020g0232	2	394	0.0051	17	c.-14 others(36): Show c.-147+4836_-147+4837insTTCTCCCTAACCCCCCT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004920	T T	TAGGGAAG others(10): Show TAGGGAAGGGGGAGTTAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18980.hp1 NA18948.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0074 a0001c0002t0003g0206 a0001c0002t0002g0074 a0001c0002t0003g0206	2	394	0.0051	17	c.-14 others(36): Show c.-147+4743_-147+4744insCTAACTCCCCCTTCCCT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02300.hp1 HG02451.hp1 others(4): Show HG01975.hp1 HG02300.hp1 HG02451.hp1 HG02965.hp2 HG03688.hp2 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0030	a0001c0001t0001g0135 a0001c0001t0003g0068 a0001c0001t0004g0130 others(4): Show a0001c0001t0001g0135 a0001c0001t0003g0068 a0001c0001t0004g0130 a0001c0001t0005g0258 a0001c0001t0006g0183 a0001c0001t0006g0196 a0001c0001t0030g0195	7	380	0.0184	17	c.721 others(32): Show c.721+658_721+659insAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAP1_chr1_40035729_40077648	40049178	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	378	0.0027	17	c.-11 others(34): Show c.-11+8387_-11+8403dupTTTTTTTTTTTTTTTTT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP2_chr6_17388595_17562780	17406398	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG01978.hp2 others(12): Show HG00099.hp1 HG01106.hp1 HG01978.hp2 HG02083.hp1 HG02622.hp2 HG03017.hp1 HG03490.hp2 HG03491.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp2 NA18954.hp2 NA18962.hp2 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0005t0004	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0020 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0019 a0001c0002t0001g0035 a0002c0005t0004g0024	15	206	0.0728	17	c.-2+ others(34): Show c.-2+12667_-2+12668insTTTTTTTTTTTTTTTTT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17461992	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01517.hp1 HG02027.hp1 others(5): Show HG00438.hp2 HG01517.hp1 HG02027.hp1 HG02071.hp2 HG02132.hp2 HG03927.hp2 NA19057.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0002c0004t0002	a0001c0001t0001g0174 a0001c0001t0002g0049 a0001c0001t0002g0162 others(5): Show a0001c0001t0001g0174 a0001c0001t0002g0049 a0001c0001t0002g0162 a0001c0002t0001g0094 a0001c0002t0001g0109 a0001c0002t0002g0167 a0001c0006t0001g0149 a0002c0004t0002g0182	8	206	0.0388	17	c.223 others(32): Show c.223-989_223-973dupAAAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17529651	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	206	0.0049	17	c.637 others(34): Show c.637-9617_637-9616insAAAAATATATATATATA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735858	G G	GGGGCGGG others(10): Show GGGGCGGGCGGGGCGGGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0028 a0003c0005t0004g0028	1	342	0.0029	17	c.158 others(34): Show c.1583+251_1583+252insGCCCGCCCCGCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN13_chr2_30717771_30812446	30758789	T T	TCCTTTCC others(10): Show TCCTTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18954.hp1 NA18986.hp1 others(1): Show NA18950.hp1 NA18954.hp1 NA18986.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0005g0011 others(1): Show a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0005g0011 a0001c0002t0005g0050	4	384	0.0104	17	c.775 others(32): Show c.775-653_775-652insGAGGGAGGGAGGAAAGG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800116	A A	AAAAGAAA others(10): Show AAAAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0356 a0001c0001t0002g0356	1	384	0.0026	17	c.-33 others(34): Show c.-33+7185_-33+7186insCTTTCTTTTCTTTCTTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN15_chr16_522712_559636	544707	C C	CCTCCCCC others(10): Show CCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0380 a0001c0004t0003g0380	1	410	0.0024	17	c.-22 others(34): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(10): Show CCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01515.hp1 HG01928.hp2 others(37): Show HG00597.hp2 HG01515.hp1 HG01928.hp2 HG02027.hp2 HG02074.hp1 HG02132.hp2 HG02647.hp1 HG02698.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03654.hp1 HG03669.hp1 HG03927.hp2 HG03942.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18966.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA19000.hp1 NA19007.hp2 NA19011.hp2 NA19056.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19087.hp2 NA19088.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0019	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0028 a0001c0042 a0003c0014 a0003c0047 a0005c0015 a0006c0023 a0019c0050	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0020 a0001c0004t0002 a0001c0005t0002 a0001c0006t0002 a0001c0007t0002 a0001c0009t0001 a0001c0028t0002 a0001c0042t0002 a0003c0014t0001 a0003c0047t0001 a0005c0015t0004 a0006c0023t0001 a0019c0050t0018	a0001c0001t0001g0191 a0001c0001t0001g0240 a0001c0001t0002g0232 others(37): Show a0001c0001t0001g0191 a0001c0001t0001g0240 a0001c0001t0002g0232 a0001c0001t0002g0299 a0001c0001t0002g0331 a0001c0001t0002g0335 a0001c0001t0002g0366 a0001c0001t0002g0369 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0003g0255 a0001c0001t0005g0345 a0001c0002t0001g0143 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0295 a0001c0002t0002g0057 a0001c0002t0002g0067 a0001c0002t0002g0110 a0001c0002t0002g0169 a0001c0002t0002g0239 a0001c0002t0002g0293 a0001c0002t0002g0297 a0001c0002t0004g0254 a0001c0002t0004g0256 a0001c0002t0004g0257 a0001c0002t0020g0098 a0001c0004t0002g0096 a0001c0004t0002g0109 a0001c0005t0002g0179 a0001c0006t0002g0323 a0001c0007t0002g0332 a0001c0009t0001g0088 a0001c0028t0002g0302 a0001c0042t0002g0309 a0003c0014t0001g0308 a0003c0047t0001g0373 a0005c0015t0004g0253 a0006c0023t0001g0145 a0019c0050t0018g0225	40	410	0.0976	17	c.-22 others(34): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(10): Show CCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01928.hp2 HG02155.hp1 others(17): Show HG01515.hp1 HG01928.hp2 HG02155.hp1 HG02683.hp2 HG02698.hp2 HG03017.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 NA18943.hp2 NA18954.hp1 NA18956.hp2 NA18979.hp1 NA18995.hp1 NA19000.hp1 NA19003.hp2 NA19063.hp2 NA19088.hp1 NA19091.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0028 a0001c0042 a0003c0014 a0006c0023	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0005t0002 a0001c0006t0001 a0001c0009t0001 a0001c0028t0002 a0001c0042t0002 a0003c0014t0001 a0006c0023t0001	a0001c0001t0001g0191 a0001c0001t0001g0240 a0001c0001t0002g0305 others(17): Show a0001c0001t0001g0191 a0001c0001t0001g0240 a0001c0001t0002g0305 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0295 a0001c0002t0001g0319 a0001c0002t0002g0170 a0001c0002t0002g0297 a0001c0004t0002g0096 a0001c0004t0002g0315 a0001c0005t0002g0179 a0001c0006t0001g0114 a0001c0006t0001g0117 a0001c0009t0001g0088 a0001c0028t0002g0302 a0001c0042t0002g0309 a0003c0014t0001g0308 a0003c0014t0001g0320 a0006c0023t0001g0145	20	410	0.0488	17	c.-22 others(34): Show c.-22-1979_-22-1978insTCGTCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544892	C C	CACGTCGT others(10): Show CACGTCGTCGTCTCCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02970.hp2 others(1): Show HG01891.hp1 HG02055.hp1 HG02970.hp2 HG03041.hp1	a0002 a0008 a0015 a0002 a0008 a0015	a0002c0037 a0008c0026 a0015c0036 a0002c0037 a0008c0026 a0015c0036	a0002c0037t0001 a0008c0026t0001 a0008c0026t0002 others(1): Show a0002c0037t0001 a0008c0026t0001 a0008c0026t0002 a0015c0036t0001	a0002c0037t0001g0382 a0008c0026t0001g0281 a0008c0026t0002g0282 others(1): Show a0002c0037t0001g0382 a0008c0026t0001g0281 a0008c0026t0002g0282 a0015c0036t0001g0392	4	410	0.0098	17	c.-22 others(34): Show c.-22-1925_-22-1924insACGTCGTCGTCTCCCCT	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13			chr16	TogoVar
CAPN15_chr16_522712_559636	550786	G G	GGTGAGGG others(10): Show GGTGAGGGCGCCCCGTCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02257.hp2 HG02559.hp1 others(8): Show HG01517.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp2	a0001 a0004 a0025 a0001 a0004 a0025	a0001c0004 a0001c0006 a0004c0019 others(3): Show a0001c0004 a0001c0006 a0004c0019 a0004c0025 a0004c0077 a0025c0076	a0001c0004t0001 a0001c0006t0002 a0001c0006t0003 others(5): Show a0001c0004t0001 a0001c0006t0002 a0001c0006t0003 a0004c0019t0001 a0004c0019t0007 a0004c0025t0003 a0004c0077t0030 a0025c0076t0003	a0001c0004t0001g0269 a0001c0006t0002g0123 a0001c0006t0003g0006 others(7): Show a0001c0004t0001g0269 a0001c0006t0002g0123 a0001c0006t0003g0006 a0001c0006t0003g0270 a0004c0019t0001g0285 a0004c0019t0007g0286 a0004c0025t0003g0278 a0004c0025t0003g0284 a0004c0077t0030g0287 a0025c0076t0003g0288	11	410	0.0268	17	c.206 others(34): Show c.2067-509_2067-508insCGCCCCGTCAGTGAGGG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551039	G G	GCCCCGGT others(10): Show GCCCCGGTCGGTGAGGGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03209.hp2 HG01109.hp1 HG03209.hp2	a0002 a0016 a0002 a0016	a0002c0035 a0016c0034 a0002c0035 a0016c0034	a0002c0035t0004 a0016c0034t0001 a0002c0035t0004 a0016c0034t0001	a0002c0035t0004g0400 a0016c0034t0001g0399 a0002c0035t0004g0400 a0016c0034t0001g0399	2	410	0.0049	17	c.206 others(34): Show c.2067-247_2067-231dupGTCCCCGGTCGGTGAGG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551088	G G	GCCCCGGT others(10): Show GCCCCGGTCGGTGAGGGT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0312 a0001c0004t0003g0312	1	410	0.0024	17	c.206 others(34): Show c.2067-197_2067-181dupTCCCCGGTCGGTGAGGG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551186	G G	GCCCCGGT others(10): Show GCCCCGGTCGGTGAGGGT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0223 a0005c0016t0002g0223	1	410	0.0024	17	c.206 others(33): Show c.2067-111_2067-95dupGGTCGGTGAGGGTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN2_chr1_223707539_223781018	223737721	G G	GGGGGGGG others(10): Show GGGGGGGGGCGGGGGGTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0330 a0001c0002t0001g0330	1	378	0.0027	17	c.308 others(34): Show c.308-6379_308-6378insGGGGGGGGCGGGGGGTA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20			chr1	TogoVar
CAPN2_chr1_223707539_223781018	223741435	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0337 a0001c0002t0006g0337	1	378	0.0027	17	c.308 others(34): Show c.308-2665_308-2664insTATATATATATATATAT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20			chr1	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0051 a0002c0006t0001g0051	1	306	0.0033	17	c.310 others(34): Show c.310-3731_310-3730insATATATATTTTTTTTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0002 a0002c0006t0001g0002	2	306	0.0065	17	c.310 others(34): Show c.310-3731_310-3730insATATATTTTTTTTTTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0052 a0002c0006t0001g0052	1	306	0.0033	17	c.310 others(34): Show c.310-3731_310-3730insATATTTTTTTTTTTTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN3_chr15_42354501_42417317	42380752	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	306	0.0033	17	c.310 others(34): Show c.310-3731_310-3730insATATATATATATATATA	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23			chr15	TogoVar
CAPN7_chr3_15201246_15257916	15206112	C C	CGGCCCGG others(10): Show CGGCCCGGCTCCTGCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG01884.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	376	0.0053	17	c.-38 others(26): Show c.-384_-383insGGCCCGGCTCCTGCGTG	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding		133		chr3	TogoVar
CAPN7_chr3_15201246_15257916	15210596	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0048 a0001c0001t0010g0048	1	376	0.0027	17	c.103 others(34): Show c.103-1507_103-1491dupTTTTTTTTTTTTTTTTT	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPSL_chr5_35899288_35943622	35919170	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	402	0.0025	17	c.137 others(34): Show c.137+1813_137+1814insATATATATATTTTTTTT	CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4			chr5	TogoVar
CAPSL_chr5_35899288_35943622	35919170	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0272 a0002c0002t0003g0272	1	402	0.0025	17	c.137 others(34): Show c.137+1813_137+1814insATATATATATATTTTTT	CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4			chr5	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18941.hp2 NA18966.hp1 others(3): Show HG03540.hp2 NA18941.hp2 NA18966.hp1 NA18968.hp1 NA18974.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0035 a0001c0001t0002 a0001c0001t0024 a0001c0001t0035	a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0190 others(3): Show a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0280 a0001c0001t0024g0175 a0001c0001t0035g0100	6	354	0.0170	17	c.40- others(32): Show c.40-7409_40-7393dupTTTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19352475	A A	ATATTCCC others(10): Show ATATTCCCAAACTAGTCC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	364	0.0028	17	c.588 others(34): Show c.588+4159_588+4160insGGACTAGTTTGGGAATA	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	6/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2913145	A A	AAGGAAAG others(10): Show AAGGAAAGAGGGAAGAGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0105 a0001c0023t0001g0105	1	322	0.0031	17	c.301 others(34): Show c.3019+125_3019+141dupCCTCTTCCCTCTTTCCT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	22/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2913162	G G	GAGGAAAG others(10): Show GAGGAAAGAGGGAAGAGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	322	0.0031	17	c.301 others(34): Show c.3019+108_3019+124dupTCTCTTCCCTCTTTCCT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	22/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2922128	A A	AGGCTTCT others(10): Show AGGCTTCTGAGATACGCT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0053 a0001c0003t0001g0053	1	322	0.0031	17	c.226 others(34): Show c.2269+489_2269+505dupAGCGTATCTCAGAAGCC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	17/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2933706	T T	TCCCTCCT others(10): Show TCCCTCCTTCCATCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01069.hp1 others(3): Show HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01169.hp2 HG01255.hp1 HG02015.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0047 a0001c0001 a0001c0007 a0003c0047	a0001c0001t0001 a0001c0007t0001 a0003c0047t0001 a0001c0001t0001 a0001c0007t0001 a0003c0047t0001	a0001c0001t0001g0166 a0001c0007t0001g0140 a0001c0007t0001g0174 others(3): Show a0001c0001t0001g0166 a0001c0007t0001g0140 a0001c0007t0001g0174 a0001c0007t0001g0243 a0001c0007t0001g0249 a0003c0047t0001g0147	6	322	0.0186	17	c.151 others(34): Show c.1518+746_1518+747insGAAAGATGGAAGGAGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2941539	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02280.hp2 others(8): Show HG02055.hp2 HG02109.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG02896.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0013 a0001c0017 others(5): Show a0001c0008 a0001c0013 a0001c0017 a0001c0018 a0001c0028 a0001c0032 a0001c0034 a0002c0036	a0001c0008t0001 a0001c0013t0001 a0001c0017t0001 others(5): Show a0001c0008t0001 a0001c0013t0001 a0001c0017t0001 a0001c0018t0001 a0001c0028t0001 a0001c0032t0001 a0001c0034t0002 a0002c0036t0006	a0001c0008t0001g0031 a0001c0008t0001g0068 a0001c0013t0001g0101 others(8): Show a0001c0008t0001g0031 a0001c0008t0001g0068 a0001c0013t0001g0101 a0001c0013t0001g0217 a0001c0013t0001g0265 a0001c0017t0001g0281 a0001c0018t0001g0060 a0001c0028t0001g0301 a0001c0032t0001g0061 a0001c0034t0002g0278 a0002c0036t0006g0002	11	322	0.0342	17	c.685 others(34): Show c.685-1628_685-1612dupTTTTTTTTTTTTTTTTT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	5/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3040328	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	322	0.0031	17	c.-12 others(36): Show c.-126+3338_-126+3339insAAAAAAAAAAAAAAAAA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0299 a0003c0006t0008g0299	1	376	0.0027	17	c.-68 others(31): Show c.-689-24_-689-8dupTTTTTTTTTTTTTTTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(18): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01257.hp2 HG02027.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp2 HG03017.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18970.hp1 NA18977.hp1 NA19000.hp2 NA19004.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 a0001c0002t0002 a0001c0002t0017 a0001c0002t0031	a0001c0001t0001g0396 a0001c0001t0002g0291 a0001c0001t0032g0402 others(16): Show a0001c0001t0001g0396 a0001c0001t0002g0291 a0001c0001t0032g0402 a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0040 a0001c0002t0002g0064 a0001c0002t0002g0102 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0181 a0001c0002t0002g0232 a0001c0002t0002g0272 a0001c0002t0002g0302 a0001c0002t0002g0317 a0001c0002t0002g0331 a0001c0002t0002g0437 a0001c0002t0017g0097 a0001c0002t0031g0235	21	470	0.0447	17	c.31 others(28): Show c.3170_*3186dupAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTG others(10): Show GTTTTTTGTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19000.hp2 HG00558.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0031 a0001c0002t0002 a0001c0002t0031	a0001c0002t0002g0302 a0001c0002t0031g0235 a0001c0002t0002g0302 a0001c0002t0031g0235	2	470	0.0043	17	c.281 others(34): Show c.281+1086_281+1087insAAACAAAAAACAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18971.hp2 NA19007.hp1 HG02004.hp2 NA18971.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0214 a0001c0001t0003g0012 a0001c0001t0003g0214	3	470	0.0064	17	c.281 others(34): Show c.281+1070_281+1086dupAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	470	0.0021	17	c.-7- others(32): Show c.-7-2671_-7-2655dupAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARM1_chr19_10866553_10928075	10867257	T T	TTGATGTC others(10): Show TTGATGTCCTCTGATGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp2 others(75): Show HG00099.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG01074.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02280.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03239.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18977.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0010 others(1): Show a0001c0001 a0001c0005 a0001c0010 a0003c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0005t0005 a0001c0010t0044 a0003c0007t0017	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(73): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0005g0001 a0001c0001t0005g0014 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0032 a0001c0001t0005g0045 a0001c0001t0005g0050 a0001c0001t0005g0054 a0001c0001t0005g0056 a0001c0001t0005g0067 a0001c0001t0005g0078 a0001c0001t0005g0084 a0001c0001t0005g0088 a0001c0001t0009g0064 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0009g0087 a0001c0001t0009g0090 a0001c0001t0009g0091 a0001c0001t0009g0246 a0001c0001t0009g0344 a0001c0001t0010g0047 a0001c0001t0010g0057 a0001c0001t0010g0075 a0001c0001t0010g0110 a0001c0001t0012g0034 a0001c0001t0012g0035 a0001c0001t0012g0036 a0001c0001t0012g0061 a0001c0001t0012g0062 a0001c0001t0012g0070 a0001c0001t0017g0037 a0001c0001t0017g0109 a0001c0001t0018g0079 a0001c0001t0020g0074 a0001c0001t0024g0033 a0001c0001t0024g0058 a0001c0001t0038g0243 a0001c0001t0039g0013 a0001c0001t0042g0052 a0001c0001t0045g0042 a0001c0001t0046g0082 a0001c0005t0005g0089 a0001c0010t0044g0244 a0003c0007t0017g0069	78	354	0.2203	17	c.-44 others(28): Show c.-4446_-4445insTGATGTCCTCTGATGAC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding		4295		chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25300509	T T	TACAAAAA others(10): Show TACAAAAATTAATGGGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01106.hp1 HG00642.hp1 HG01081.hp1 HG01106.hp1	a0002 a0005 a0002 a0005	a0002c0007 a0005c0019 a0002c0007 a0005c0019	a0002c0007t0006 a0005c0019t0001 a0002c0007t0006 a0005c0019t0001	a0002c0007t0006g0033 a0002c0007t0006g0035 a0005c0019t0001g0034 a0002c0007t0006g0033 a0002c0007t0006g0035 a0005c0019t0001g0034	3	186	0.0161	17	c.138 others(36): Show c.138+15601_138+15602insCAAAAATTAATGGGGCA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25387114	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03669.hp1 HG02083.hp1 HG03669.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0011 a0001c0004 a0004c0011	a0001c0004t0004 a0004c0011t0006 a0001c0004t0004 a0004c0011t0006	a0001c0004t0004g0040 a0004c0011t0006g0044 a0001c0004t0004g0040 a0004c0011t0006g0044	2	186	0.0108	17	c.139 others(36): Show c.139-32997_139-32981dupAAAAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar

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