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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CACNA1A_chr19_13201442_13511479	13346616	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02976.hp2 HG01109.hp1 HG02109.hp2 HG02976.hp2	a0001 a0025 a0001 a0025	a0001c0005 a0001c0125 a0025c0041 a0001c0005 a0001c0125 a0025c0041	a0001c0005t0005 a0001c0125t0013 a0025c0041t0004 a0001c0005t0005 a0001c0125t0013 a0025c0041t0004	a0001c0005t0005g0135 a0001c0125t0013g0209 a0025c0041t0004g0107 a0001c0005t0005g0135 a0001c0125t0013g0209 a0025c0041t0004g0107	3	218	0.0138	-14	c.979 others(33): Show c.979-10721_979-10708delTATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346654	ATATATAT others(7): Show ATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0078 a0001c0004t0001g0078	1	218	0.0046	-14	c.979 others(33): Show c.979-10759_979-10746delAATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346656	ATATATAT others(7): Show ATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0021 a0021	a0021c0090 a0021c0090	a0021c0090t0007 a0021c0090t0007	a0021c0090t0007g0162 a0021c0090t0007g0162	1	218	0.0046	-14	c.979 others(33): Show c.979-10761_979-10748delAAAATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402869	CACACATA others(7): Show CACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02970.hp2 HG03688.hp1 HG02129.hp1 HG02970.hp2 HG03688.hp1	a0001 a0004 a0001 a0004	a0001c0034 a0004c0047 a0004c0093 a0001c0034 a0004c0047 a0004c0093	a0001c0034t0001 a0004c0047t0001 a0004c0093t0010 a0001c0034t0001 a0004c0047t0001 a0004c0093t0010	a0001c0034t0001g0068 a0004c0047t0001g0178 a0004c0093t0010g0046 a0001c0034t0001g0068 a0004c0047t0001g0178 a0004c0093t0010g0046	3	218	0.0138	-14	c.540 others(33): Show c.540-31104_540-31091delATATATATATGTGT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402871	CACATATA others(7): Show CACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02615.hp2 HG02647.hp2 others(1): Show HG00423.hp1 HG02615.hp2 HG02647.hp2 NA20905.hp1	a0001 a0007 a0010 others(1): Show a0001 a0007 a0010 a0042	a0001c0098 a0007c0009 a0010c0083 others(1): Show a0001c0098 a0007c0009 a0010c0083 a0042c0097	a0001c0098t0001 a0007c0009t0034 a0010c0083t0014 others(1): Show a0001c0098t0001 a0007c0009t0034 a0010c0083t0014 a0042c0097t0005	a0001c0098t0001g0112 a0007c0009t0034g0163 a0010c0083t0014g0159 others(1): Show a0001c0098t0001g0112 a0007c0009t0034g0163 a0010c0083t0014g0159 a0042c0097t0005g0059	4	218	0.0184	-14	c.540 others(33): Show c.540-31106_540-31093delATATATATATATGT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402873	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp1 HG03516.hp2 others(2): Show HG01884.hp1 HG03195.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0096 a0003c0035 a0003c0084 others(1): Show a0001c0096 a0003c0035 a0003c0084 a0004c0123	a0001c0096t0025 a0003c0035t0016 a0003c0035t0024 others(2): Show a0001c0096t0025 a0003c0035t0016 a0003c0035t0024 a0003c0084t0016 a0004c0123t0009	a0001c0096t0025g0003 a0003c0035t0016g0076 a0003c0035t0024g0005 others(2): Show a0001c0096t0025g0003 a0003c0035t0016g0076 a0003c0035t0024g0005 a0003c0084t0016g0145 a0004c0123t0009g0077	5	218	0.0229	-14	c.540 others(33): Show c.540-31108_540-31095delATATATATATATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406465	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18968.hp1 NA19012.hp2 others(2): Show NA18964.hp2 NA18968.hp1 NA19012.hp2 NA19065.hp2 NA19084.hp1	a0003 a0005 a0030 others(2): Show a0003 a0005 a0030 a0031 a0035	a0003c0116 a0005c0024 a0030c0062 others(2): Show a0003c0116 a0005c0024 a0030c0062 a0031c0061 a0035c0057	a0003c0116t0045 a0005c0024t0006 a0030c0062t0002 others(2): Show a0003c0116t0045 a0005c0024t0006 a0030c0062t0002 a0031c0061t0003 a0035c0057t0020	a0003c0116t0045g0111 a0005c0024t0006g0117 a0030c0062t0002g0124 others(2): Show a0003c0116t0045g0111 a0005c0024t0006g0117 a0030c0062t0002g0124 a0031c0061t0003g0106 a0035c0057t0020g0002	5	218	0.0229	-14	c.540 others(33): Show c.540-34700_540-34687delTATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497515	AAAAAAAA others(7): Show AAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0082 a0002c0082	a0002c0082t0003 a0002c0082t0003	a0002c0082t0003g0058 a0002c0082t0003g0058	1	218	0.0046	-14	c.293 others(31): Show c.293+8403_293+8416delATATATATTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497517	AAAAAATA others(7): Show AAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0007 a0007	a0007c0118 a0007c0118	a0007c0118t0002 a0007c0118t0002	a0007c0118t0002g0052 a0007c0118t0002g0052	1	218	0.0046	-14	c.293 others(31): Show c.293+8401_293+8414delATATATATATTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497519	AAAATATA others(7): Show AAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0023 a0002c0010t0003g0023	1	218	0.0046	-14	c.293 others(31): Show c.293+8399_293+8412delATATATATATATTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497521	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02602.hp1 HG02895.hp2 others(2): Show HG01123.hp1 HG02602.hp1 HG02895.hp2 HG02976.hp2 HG04184.hp2	a0001 a0014 a0001 a0014	a0001c0004 a0001c0005 a0001c0020 others(1): Show a0001c0004 a0001c0005 a0001c0020 a0014c0115	a0001c0004t0001 a0001c0005t0005 a0001c0020t0001 others(1): Show a0001c0004t0001 a0001c0005t0005 a0001c0020t0001 a0014c0115t0004	a0001c0004t0001g0018 a0001c0005t0005g0028 a0001c0005t0005g0135 others(2): Show a0001c0004t0001g0018 a0001c0005t0005g0028 a0001c0005t0005g0135 a0001c0020t0001g0051 a0014c0115t0004g0066	5	218	0.0229	-14	c.293 others(31): Show c.293+8397_293+8410delATATATATATATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138028023	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0017 a0008c0019t0025 a0008c0019t0017 a0008c0019t0025	a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126	3	248	0.0121	-14	c.328 others(33): Show c.3286+2866_3286+2879delTTTTTTTTTTTTTT		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	20/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2056196	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02451.hp1 HG02683.hp2 others(8): Show HG01106.hp2 HG02451.hp1 HG02683.hp2 HG02723.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03540.hp1 NA19030.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0005 a0001c0007 others(6): Show a0001c0001 a0001c0005 a0001c0007 a0001c0012 a0001c0015 a0002c0040 a0003c0035 a0005c0030 a0006c0028	a0001c0001t0002 a0001c0001t0005 a0001c0001t0024 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0024 a0001c0005t0026 a0001c0007t0006 a0001c0012t0007 a0001c0015t0034 a0002c0040t0016 a0003c0035t0025 a0005c0030t0001 a0006c0028t0006	a0001c0001t0002g0001 a0001c0001t0005g0097 a0001c0001t0024g0080 others(8): Show a0001c0001t0002g0001 a0001c0001t0005g0097 a0001c0001t0024g0080 a0001c0005t0026g0079 a0001c0007t0006g0074 a0001c0012t0007g0076 a0001c0015t0034g0075 a0002c0040t0016g0073 a0003c0035t0025g0078 a0005c0030t0001g0077 a0006c0028t0006g0072	11	104	0.1058	-14	c.49+ others(29): Show c.49+2614_49+2627delGTGTGTGTGTGTGT		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177614	TTCCTTCC others(7): Show TTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG03139.hp2 HG02451.hp2 HG02723.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0013 a0001c0006t0001 a0001c0011t0014 a0001c0001t0013 a0001c0006t0001 a0001c0011t0014	a0001c0001t0013g0024 a0001c0006t0001g0102 a0001c0011t0014g0007 a0001c0001t0013g0024 a0001c0006t0001g0102 a0001c0011t0014g0007	3	104	0.0289	-14	c.477 others(33): Show c.477+57187_477+57200delCTTCCTTCCTTCTC		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2226125	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0024 a0001c0001t0013g0024	1	104	0.0096	-14	c.477 others(35): Show c.477+105730_477+105743delCACACACACACACA		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2277354	GACAGACA others(7): Show GACAGACAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02451.hp1 HG01071.hp2 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0026 a0001c0002t0003 a0001c0005t0026	a0001c0002t0003g0065 a0001c0005t0026g0079 a0001c0002t0003g0065 a0001c0005t0026g0079	2	104	0.0192	-14	c.477 others(35): Show c.477+156928_477+156941delGACAGACACACACA		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2277358	GACAGACA others(7): Show GACAGACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp2 HG02258.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0032 a0001c0004 a0001c0032	a0001c0004t0004 a0001c0032t0031 a0001c0004t0004 a0001c0032t0031	a0001c0004t0004g0084 a0001c0032t0031g0103 a0001c0004t0004g0084 a0001c0032t0031g0103	2	104	0.0192	-14	c.477 others(35): Show c.477+156932_477+156945delGACACACACACACA		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2277362	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02723.hp1 others(1): Show HG02280.hp1 HG02572.hp2 HG02723.hp1 HG03225.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0029 a0002c0040 others(1): Show a0001c0001 a0001c0029 a0002c0040 a0003c0016	a0001c0001t0013 a0001c0029t0019 a0002c0040t0016 others(1): Show a0001c0001t0013 a0001c0029t0019 a0002c0040t0016 a0003c0016t0011	a0001c0001t0013g0014 a0001c0029t0019g0060 a0002c0040t0016g0073 others(1): Show a0001c0001t0013g0014 a0001c0029t0019g0060 a0002c0040t0016g0073 a0003c0016t0011g0082	4	104	0.0385	-14	c.477 others(35): Show c.477+156985_477+156998delACACACACACACAC		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2491962	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0037 a0001c0002t0029g0037	1	104	0.0096	-14	c.917 others(31): Show c.917-1206_917-1193delCTCTCTCTCTCTCT		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	6/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520886	CTTTCTTT others(7): Show CTTTCTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03942.hp2 others(5): Show HG02258.hp1 HG02922.hp1 HG03942.hp2 NA19002.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0074 a0001c0002t0006 others(4): Show a0001c0001t0001 a0001c0001t0074 a0001c0002t0006 a0001c0004t0002 a0001c0004t0012 a0001c0004t0024 a0001c0007t0066	a0001c0001t0001g0142 a0001c0001t0074g0004 a0001c0002t0006g0180 others(5): Show a0001c0001t0001g0142 a0001c0001t0074g0004 a0001c0002t0006g0180 a0001c0004t0002g0050 a0001c0004t0002g0088 a0001c0004t0012g0171 a0001c0004t0024g0090 a0001c0007t0066g0199	8	210	0.0381	-14	c.483 others(33): Show c.483+19174_483+19187delCTTTTCTTTTCTTT		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53672758	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01256.hp1 HG01346.hp1 others(22): Show HG00621.hp1 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01928.hp2 HG01952.hp2 HG02083.hp2 HG02145.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 NA18522.hp1 NA18747.hp1 NA18979.hp2 NA18986.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0005c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 others(17): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0001t0033 a0001c0001t0067 a0001c0001t0071 a0001c0001t0074 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0016 a0001c0002t0018 a0001c0002t0025 a0001c0002t0036 a0001c0002t0054 a0001c0003t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0011 a0005c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0173 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0004g0160 a0001c0001t0022g0056 a0001c0001t0033g0172 a0001c0001t0067g0045 a0001c0001t0071g0034 a0001c0001t0074g0004 a0001c0002t0006g0011 a0001c0002t0006g0189 a0001c0002t0006g0192 a0001c0002t0007g0006 a0001c0002t0013g0003 a0001c0002t0016g0129 a0001c0002t0018g0111 a0001c0002t0025g0054 a0001c0002t0036g0202 a0001c0002t0054g0005 a0001c0003t0001g0157 a0001c0004t0002g0052 a0001c0004t0004g0036 a0001c0004t0011g0170 a0005c0015t0001g0141	25	210	0.1191	-14	c.111 others(31): Show c.1117-907_1117-894delGTGTGTGTGTGTGT		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	7/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0004 a0004c0020t0004	a0004c0020t0004g0182 a0004c0020t0004g0182	1	210	0.0048	-14	c.122 others(33): Show c.1220+8567_1220+8580delAAAAAAAAAAAAAA		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53734016	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0125 a0001c0001t0041g0125	1	210	0.0048	-14	c.268 others(33): Show c.2681+1074_2681+1087delATATATATATATAT		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	20/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53785580	CCATGTCA others(7): Show CCATGTCAATGGATG	C C	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0061 a0001c0003t0061	a0001c0003t0061g0176 a0001c0003t0061g0176	1	210	0.0048	-14	c.485 others(33): Show c.4853-1240_4853-1227delATGTCAATGGATGC		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181515982	CCTGGCTG others(7): Show CCTGGCTGAGCCAGG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0144 a0002c0002t0003g0144	1	206	0.0049	-14	c.512 others(31): Show c.512+4474_512+4487delTGGCTGAGCCAGGC		CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181567942	TATATATA others(7): Show TATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0129 a0002c0002t0020g0129	1	206	0.0049	-14	c.513 others(31): Show c.513-9808_513-9795delTATATATACACACA		CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181583103	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA21309.hp1 HG03225.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0070 a0001c0012t0038 a0001c0001t0070 a0001c0012t0038	a0001c0001t0070g0037 a0001c0012t0038g0002 a0001c0001t0070g0037 a0001c0012t0038g0002	2	206	0.0097	-14	c.951 others(31): Show c.951+2356_951+2369delACACACACACACAC		CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181596557	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG06807.hp1 others(1): Show HG00323.hp1 HG00642.hp1 HG06807.hp1 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0004 a0009c0021 a0001c0004 a0009c0021	a0001c0004t0002 a0009c0021t0002 a0001c0004t0002 a0009c0021t0002	a0001c0004t0002g0101 a0001c0004t0002g0160 a0001c0004t0002g0199 others(1): Show a0001c0004t0002g0101 a0001c0004t0002g0160 a0001c0004t0002g0199 a0009c0021t0002g0098	4	206	0.0194	-14	c.951 others(33): Show c.951+15808_951+15821delGTGTGTGTGTGTGT		CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181718611	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03471.hp1 HG01109.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0032 a0001c0001 a0001c0032	a0001c0001t0064 a0001c0032t0062 a0001c0001t0064 a0001c0032t0062	a0001c0001t0064g0013 a0001c0032t0062g0073 a0001c0001t0064g0013 a0001c0032t0062g0073	2	206	0.0097	-14	c.163 others(31): Show c.1638+487_1638+500delACACACACACACAC		CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	12/47					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1F_chrX_49200063_49238340	49235826	TACACACA others(7): Show TACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02071.hp1 HG02015.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0147 a0001c0001t0001g0001 a0001c0001t0001g0147	2	290	0.0069	-14	c.-25 others(25): Show c.-2531_-2518delGTGTGTGTGTGTGT		CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding					2487		chrX	TogoVar
CACNA1G_chr17_50555715_50632474	50565127	GCGCGCAC others(7): Show GCGCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	246	0.0041	-14	c.242 others(31): Show c.242+3442_242+3455delGCGCACACACACAC		CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1153172	GCCCGCGC others(7): Show GCCCGCGCCCCGCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0135 a0002c0135	a0002c0135t0043 a0002c0135t0043	a0002c0135t0043g0282 a0002c0135t0043g0282	1	338	0.0030	-14	c.-29 others(23): Show c.-298_-285delCGCCCCGCGCCCCG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	1/35				534	INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1S_chr1_201034512_201117426	201112283	TGGCTTCT others(7): Show TGGCTTCTTGGGCTG	T T	frameshift_variant frameshift_variant	HIGH	NA19065.hp1 NA19065.hp1	a0036 a0036	a0036c0040 a0036c0040	a0036c0040t0001 a0036c0040t0001	a0036c0040t0001g0008 a0036c0040t0001g0008	1	314	0.0032	-14	c.43_ others(19): Show c.43_56delCAGCCCAAGAAGCC	p.Gln others(4): Show p.Gln15fs	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	1/44	143/6028	43/5622	15/1873			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	144	0.0069	-14	c.295 others(33): Show c.295-10446_295-10433delAAAAAAAAAAAAAA		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82192460	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00639.hp1 others(45): Show HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp2 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01975.hp1 HG02080.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18968.hp2 NA18981.hp2 NA18986.hp1 NA18995.hp2 NA19002.hp1 NA19007.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0001c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0002g0094 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0039 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0004g0002 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0041 a0001c0001t0004g0050 a0001c0001t0004g0053 a0001c0001t0004g0071 a0001c0001t0005g0096 a0001c0001t0005g0099 a0001c0001t0005g0109 a0001c0001t0005g0139 a0001c0001t0006g0093 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0006g0142 a0001c0001t0017g0091 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0064 a0001c0002t0002g0095 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0128 a0001c0002t0010g0092 a0001c0002t0019g0107 a0001c0004t0003g0082	48	144	0.3333	-14	c.295 others(33): Show c.295-21865_295-21852delCACACACACACACA		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82192990	AGTTAAAC others(7): Show AGTTAAACTGGAACT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	144	0.0069	-14	c.295 others(33): Show c.295-22395_295-22382delAGTTCCAGTTTAAC		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82301730	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0024 a0001c0004t0008g0024	1	144	0.0069	-14	c.294 others(33): Show c.294+33391_294+33404delGTGTGTGTGTGTGT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82301760	CACACACA others(7): Show CACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	144	0.0069	-14	c.294 others(33): Show c.294+33361_294+33374delATGTGTGTGTGTGT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332536	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp2 HG03225.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0103 a0001c0001t0005g0136 a0001c0001t0002g0103 a0001c0001t0005g0136	2	144	0.0139	-14	c.294 others(31): Show c.294+2585_294+2598delCTTTCTTTCTTTCT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54149918	TCTCTCTC others(7): Show TCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	118	0.0085	-14	c.204 others(33): Show c.204+26328_204+26341delTCTCTCTCTCCCTC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54149922	TCTCTCTC others(7): Show TCTCTCTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01123.hp2 HG01243.hp2 others(4): Show HG00423.hp2 HG01123.hp2 HG01243.hp2 HG03041.hp1 HG03239.hp2 HG04115.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0027	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0027t0001	a0001c0001t0001g0029 a0001c0001t0001g0080 a0001c0002t0001g0115 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0080 a0001c0002t0001g0115 a0001c0003t0001g0042 a0001c0003t0006g0064 a0001c0004t0001g0007 a0001c0027t0001g0014	7	118	0.0593	-14	c.204 others(33): Show c.204+26332_204+26345delTCTCTCCCTCCCTC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54338467	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	118	0.0085	-14	c.321 others(33): Show c.321+17941_321+17954delGTGTGTGTGTGTGT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54350972	TTTTTTTT others(7): Show TTTTTTTTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03516.hp1 HG02300.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0002 a0001c0021t0002 a0001c0002t0002 a0001c0021t0002	a0001c0002t0002g0066 a0001c0021t0002g0023 a0001c0002t0002g0066 a0001c0021t0002g0023	2	118	0.0170	-14	c.321 others(33): Show c.321+30424_321+30437delGTTTGTTTTTTTTT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54506065	TGTCTCAG others(7): Show TGTCTCAGCCAGGCA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	118	0.0085	-14	c.544 others(31): Show c.544+2414_544+2427delCTCAGCCAGGCAGT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	5/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54515161	CGTGTGTG others(7): Show CGTGTGTGTGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp2 HG02630.hp2 HG03098.hp2	a0001 a0001	a0001c0010 a0001c0038 a0001c0010 a0001c0038	a0001c0010t0003 a0001c0038t0010 a0001c0010t0003 a0001c0038t0010	a0001c0010t0003g0057 a0001c0038t0010g0059 a0001c0010t0003g0057 a0001c0038t0010g0059	2	118	0.0170	-14	c.544 others(33): Show c.544+11520_544+11533delCTGTGTGTGTGTGT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	5/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54661838	ATGTGTGT others(7): Show ATGTGTGTATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01243.hp1 HG01934.hp2 others(7): Show HG01169.hp2 HG01243.hp1 HG01934.hp2 HG02622.hp1 HG02965.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 NA18522.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0013 a0001c0024 a0001c0028 a0002c0020	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0010t0001 a0001c0013t0001 a0001c0024t0001 a0001c0028t0001 a0002c0020t0001	a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0003t0001g0026 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0003t0001g0026 a0001c0004t0001g0022 a0001c0006t0001g0017 a0001c0010t0001g0065 a0001c0013t0001g0105 a0001c0024t0001g0069 a0001c0028t0001g0090 a0002c0020t0001g0021	10	118	0.0848	-14	c.116 others(35): Show c.1167+19605_1167+19618delATGTGTGTGTGTGT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54687121	CTTTTTTT others(7): Show CTTTTTTTTTTTTTG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	118	0.0085	-14	c.116 others(35): Show c.1167+44894_1167+44907delGTTTTTTTTTTTTT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736095	ATATACAT others(7): Show ATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01934.hp1 NA19030.hp2 HG01192.hp2 HG01934.hp1 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0010 a0001c0004 a0001c0006 a0001c0010	a0001c0004t0001 a0001c0006t0007 a0001c0010t0006 a0001c0004t0001 a0001c0006t0007 a0001c0010t0006	a0001c0004t0001g0050 a0001c0006t0007g0098 a0001c0010t0006g0062 a0001c0004t0001g0050 a0001c0006t0007g0098 a0001c0010t0006g0062	3	118	0.0254	-14	c.116 others(35): Show c.1168-16499_1168-16486delCATATATATGTATA		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54739751	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp2 NA20752.hp2 HG01070.hp2 HG01123.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0001 a0001c0003t0006 a0001c0011t0001 a0001c0003t0001 a0001c0003t0006 a0001c0011t0001	a0001c0003t0001g0110 a0001c0003t0006g0064 a0001c0011t0001g0099 a0001c0003t0001g0110 a0001c0003t0006g0064 a0001c0011t0001g0099	3	118	0.0254	-14	c.116 others(35): Show c.1168-12817_1168-12804delTGTGTGTGTGTGTG		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54811465	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(42): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00639.hp2 HG00673.hp1 HG01070.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG02080.hp2 HG02300.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18951.hp2 NA19068.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0024 a0001c0025 a0001c0027 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0038 a0001c0040 a0001c0041 a0002c0020	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006 a0001c0006t0001 a0001c0006t0007 a0001c0007t0001 a0001c0009t0001 a0001c0010t0003 a0001c0011t0001 a0001c0011t0006 a0001c0012t0005 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0016t0005 a0001c0018t0001 a0001c0019t0001 a0001c0024t0001 a0001c0025t0004 a0001c0027t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0038t0010 a0001c0040t0001 a0001c0041t0001 a0002c0020t0001	a0001c0001t0001g0033 a0001c0001t0001g0083 a0001c0001t0001g0097 others(42): Show a0001c0001t0001g0033 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0003g0058 a0001c0002t0001g0115 a0001c0002t0002g0066 a0001c0002t0004g0001 a0001c0003t0001g0011 a0001c0003t0001g0038 a0001c0003t0001g0054 a0001c0003t0001g0110 a0001c0003t0001g0112 a0001c0003t0006g0064 a0001c0006t0001g0009 a0001c0006t0001g0017 a0001c0006t0007g0098 a0001c0007t0001g0044 a0001c0009t0001g0013 a0001c0010t0003g0057 a0001c0011t0001g0099 a0001c0011t0001g0109 a0001c0011t0006g0056 a0001c0012t0005g0027 a0001c0013t0001g0105 a0001c0014t0001g0071 a0001c0014t0001g0102 a0001c0015t0001g0072 a0001c0015t0001g0108 a0001c0016t0005g0116 a0001c0018t0001g0076 a0001c0019t0001g0075 a0001c0024t0001g0069 a0001c0025t0004g0106 a0001c0027t0001g0014 a0001c0030t0001g0028 a0001c0031t0001g0032 a0001c0032t0001g0048 a0001c0033t0001g0114 a0001c0034t0001g0086 a0001c0038t0010g0059 a0001c0040t0001g0117 a0001c0041t0001g0085 a0002c0020t0001g0021	45	118	0.3814	-14	c.138 others(33): Show c.1381-5351_1381-5338delTTTTTTTTTTTTTT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37					INFO_REALIGN_3_PRIME	chr3	TogoVar

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