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
CAPN9_chr1_230742388_230806989	230765212	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp1 HG02109.hp2 others(4): Show HG00280.hp2 HG01109.hp1 HG02109.hp2 HG02257.hp1 HG06807.hp1 NA18906.hp1 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0007c0012t0001 a0001c0001t0001 a0007c0012t0001	a0001c0001t0001g0024 a0001c0001t0001g0074 a0001c0001t0001g0079 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0134 a0007c0012t0001g0159 a0007c0012t0001g0161 a0007c0012t0001g0163	7	394	0.0178	10	c.537 others(27): Show c.537-2291_537-2282dupCACACACACA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230789500	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02976.hp1 NA19240.hp2 HG02809.hp2 HG02976.hp1 NA19240.hp2	a0012 a0015 a0012 a0015	a0012c0015 a0015c0019 a0012c0015 a0015c0019	a0012c0015t0001 a0015c0019t0003 a0012c0015t0001 a0015c0019t0003	a0012c0015t0001g0029 a0012c0015t0001g0031 a0015c0019t0003g0339 a0012c0015t0001g0029 a0012c0015t0001g0031 a0015c0019t0003g0339	3	394	0.0076	10	c.160 others(27): Show c.1600-632_1600-631insAAAAAAAAAG	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	13/19			chr1	TogoVar
CAPRIN1_chr11_34046731_34107610	34079905	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0047	1	246	0.0041	10	c.826 others(25): Show c.826+166_826+175dupTTTTTTTTTT	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPRIN1_chr11_34046731_34107610	34103735	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02723.hp1 HG01358.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0205 a0001c0001t0001g0051 a0001c0001t0001g0205	2	246	0.0081	10	c.43 others(21): Show c.4368_*4369insAAAAAAAAAA	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding		1126		chr11	TogoVar
CAPRIN2_chr12_30704553_30759951	30758006	A A	AATATATA others(3): Show AATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19083.hp2 NA19080.hp2 NA19083.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0179 a0003c0003t0001g0002 a0003c0003t0001g0179	2	378	0.0053	10	c.-32 others(21): Show c.-3296_-3295insATATATATAT	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding		3056		chr12	TogoVar
CAPRIN2_chr12_30704553_30759951	30758010	A A	AAAAAAAA others(3): Show AAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	378	0.0027	10	c.-33 others(21): Show c.-3300_-3299insATTTTTTTTT	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding		3060		chr12	TogoVar
CAPRIN2_chr12_30704553_30759951	30758010	A A	AAAAAATA others(3): Show AAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	378	0.0027	10	c.-33 others(21): Show c.-3300_-3299insATATATTTTT	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding		3060		chr12	TogoVar
CAPS2_chr12_75270979_75335324	75290936	A A	AAAAAAAA others(3): Show AAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 NA18978.hp1 others(1): Show HG02723.hp1 HG02809.hp1 NA18978.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0013 a0001c0003t0031 a0001c0001t0006 a0001c0001t0013 a0001c0003t0031	a0001c0001t0006g0073 a0001c0001t0013g0129 a0001c0001t0013g0132 others(1): Show a0001c0001t0006g0073 a0001c0001t0013g0129 a0001c0001t0013g0132 a0001c0003t0031g0327	4	370	0.0108	10	c.112 others(27): Show c.1126+798_1126+807dupGTTTTTTTTT	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16			chr12	TogoVar
CAPS2_chr12_75270979_75335324	75291567	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19065.hp1 NA18984.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0290 a0002c0002t0001g0174 a0001c0001t0002g0290 a0002c0002t0001g0174	2	370	0.0054	10	c.112 others(27): Show c.1126+167_1126+176dupTATATATATA	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16			chr12	TogoVar
CAPS2_chr12_75270979_75335324	75291598	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	370	0.0027	10	c.112 others(27): Show c.1126+145_1126+146insGTATATATAT	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16			chr12	TogoVar
CAPSL_chr5_35899288_35943622	35919170	A A	AAAAAAAA others(3): Show AAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18959.hp2 HG01074.hp2 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0095 a0002c0002t0001g0268 a0001c0001t0001g0095 a0002c0002t0001g0268	2	402	0.0050	10	c.137 others(27): Show c.137+1813_137+1814insATATTTTTTT	CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4			chr5	TogoVar
CAPSL_chr5_35899288_35943622	35919170	A A	AAAAAATA others(3): Show AAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19075.hp1 NA20129.hp1 NA19000.hp2 NA19075.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0220 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0220	3	402	0.0075	10	c.137 others(27): Show c.137+1813_137+1814insATATATTTTT	CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4			chr5	TogoVar
CAPZA1_chr1_112614832_112676616	112627636	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	368	0.0027	10	c.39+ others(25): Show c.39+7774_39+7783dupAAAAAAAAAA	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116859924	T T	TTCTTTCT others(3): Show TTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 NA19082.hp1 HG02145.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0287 a0001c0001t0001g0249 a0001c0001t0001g0287	2	354	0.0057	10	c.-26 others(21): Show c.-2688_-2687insTCTTTCTTTC	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding		2662		chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18957.hp1 NA18960.hp2 others(1): Show HG02027.hp1 NA18957.hp1 NA18960.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0346 others(1): Show a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0346 a0001c0001t0019g0194	4	354	0.0113	10	c.40- others(25): Show c.40-7402_40-7393dupTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116901881	A A	ATATGTGT others(3): Show ATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02135.hp2 HG02451.hp2 others(8): Show HG02071.hp2 HG02135.hp2 HG02451.hp2 HG02809.hp1 HG02970.hp1 HG03130.hp1 NA18963.hp2 NA19078.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0029 a0001c0002t0005	a0001c0001t0002g0116 a0001c0001t0002g0141 a0001c0001t0002g0153 others(8): Show a0001c0001t0002g0116 a0001c0001t0002g0141 a0001c0001t0002g0153 a0001c0001t0002g0189 a0001c0001t0002g0345 a0001c0001t0011g0010 a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0001t0029g0006 a0001c0002t0005g0085 a0001c0002t0005g0093	11	354	0.0311	10	c.220 others(27): Show c.220-2295_220-2294insATGTGTGTGT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116901881	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03579.hp1 HG02683.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0034 a0001c0002t0004 a0001c0001t0034 a0001c0002t0004	a0001c0001t0034g0300 a0001c0002t0004g0313 a0001c0001t0034g0300 a0001c0002t0004g0313	2	354	0.0057	10	c.220 others(27): Show c.220-2274_220-2265dupGTGTGTGTGT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116903233	A A	AGAGTGTG others(3): Show AGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG02572.hp1 others(5): Show HG01496.hp1 HG01891.hp1 HG02572.hp1 HG02717.hp2 HG03195.hp2 HG03225.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0016 a0001c0002t0003 a0001c0002t0016	a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0003g0338 others(5): Show a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0003g0338 a0001c0002t0003g0339 a0001c0002t0003g0340 a0001c0002t0003g0341 a0001c0002t0016g0331 a0001c0002t0016g0332	8	354	0.0226	10	c.220 others(25): Show c.220-943_220-942insAGTGTGTGTG	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116914432	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03927.hp1 NA19063.hp1 HG02004.hp1 HG03927.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0002t0010 a0001c0001t0002 a0001c0002t0004 a0001c0002t0010	a0001c0001t0002g0155 a0001c0002t0004g0307 a0001c0002t0010g0308 a0001c0001t0002g0155 a0001c0002t0004g0307 a0001c0002t0010g0308	3	354	0.0085	10	c.658 others(27): Show c.658-1599_658-1590dupACACACACAC	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA3_chr12_18733119_18744188	18742167	T T	TCACACAC others(3): Show TCACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA19030.hp2 NA21309.hp2 HG03139.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	392	0.0077	10	c.29 others(21): Show c.2999_*3000insCACACACACA	CAPZA3	ENSG00000177938.5	transcript	ENST00000317658.5	protein_coding		2980		chr12	TogoVar
CAPZA3_chr12_18733119_18744188	18743656	G G	GTTTGTTT others(3): Show GTTTGTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00741.hp1 others(25): Show HG00323.hp1 HG00642.hp1 HG00741.hp1 HG01099.hp1 HG01433.hp1 HG01934.hp2 HG02040.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 NA18906.hp1 NA19090.hp1 NA20300.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0003c0003t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0006t0002g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0006t0002g0000 a0003c0003t0002g0000	28	392	0.0714	10	c.44 others(21): Show c.4488_*4489insTTTGTTTTGT	CAPZA3	ENSG00000177938.5	transcript	ENST00000317658.5	protein_coding		4469		chr12	TogoVar
CAPZB_chr1_19333775_19490539	19333899	C C	CAAACAAA others(3): Show CAAACAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00558.hp1 others(39): Show HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00738.hp2 HG01167.hp2 HG01168.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG02145.hp2 HG02273.hp1 HG02523.hp1 HG02622.hp2 HG02922.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG04228.hp2 NA18612.hp2 NA18940.hp1 NA18952.hp2 NA18955.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18993.hp1 NA18995.hp2 NA19007.hp2 NA19010.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0023 others(39): Show a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0271 a0001c0001t0001g0324 a0001c0001t0001g0343 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0003	42	364	0.1154	10	c.56 others(21): Show c.5630_*5631insTGTTTTGTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding		4875		chr1	TogoVar
CAPZB_chr1_19333775_19490539	19333935	A A	AAACAAAA others(3): Show AAACAAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02258.hp1 others(7): Show HG01891.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG03130.hp1 HG03139.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0016	a0001c0001t0001g0088 a0001c0001t0001g0119 a0001c0001t0001g0193 others(7): Show a0001c0001t0001g0088 a0001c0001t0001g0119 a0001c0001t0001g0193 a0001c0001t0001g0294 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0002g0288 a0001c0001t0002g0355 a0001c0001t0014g0283 a0001c0001t0016g0347	10	364	0.0275	10	c.55 others(21): Show c.5594_*5595insGTGTTTTGTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding		4839		chr1	TogoVar
CAPZB_chr1_19333775_19490539	19363260	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18955.hp2 NA18993.hp2 others(1): Show NA18940.hp2 NA18955.hp2 NA18993.hp2 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0342 a0001c0002t0003g0187 a0001c0002t0003g0190 others(1): Show a0001c0002t0002g0342 a0001c0002t0003g0187 a0001c0002t0003g0190 a0001c0002t0003g0354	4	364	0.0110	10	c.330 others(27): Show c.330-5707_330-5698dupAAAAAAAAAA	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG02886.hp2 others(2): Show HG01891.hp1 HG02886.hp1 HG02886.hp2 HG03209.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0035 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0315 a0001c0001t0002g0307	5	364	0.0137	10	c.330 others(27): Show c.330-8730_330-8721dupATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19043.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0287 a0001c0001t0001g0131 a0001c0001t0001g0287	2	364	0.0055	10	c.93+ others(25): Show c.93+2791_93+2800dupTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19469741	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01981.hp1 HG02040.hp1 others(10): Show HG01433.hp2 HG01981.hp1 HG02040.hp1 NA18951.hp1 NA18982.hp1 NA18986.hp1 NA19000.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19067.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0173 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0173 a0001c0001t0001g0192 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0287 a0001c0001t0001g0297 a0001c0001t0002g0071 a0001c0001t0003g0095	13	364	0.0357	10	c.3+1 others(25): Show c.3+15685_3+15694dupGTGTGTGTGT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19471567	C C	CGAGAAAT others(3): Show CGAGAAATGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(130): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19072.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0002c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(130): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0261 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0313 a0001c0001t0001g0327 a0001c0001t0001g0334 a0001c0001t0001g0343 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0363 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0002g0071 a0001c0001t0002g0093 a0001c0001t0002g0107 a0001c0001t0002g0142 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0241 a0001c0001t0002g0255 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0355 a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0055 a0001c0001t0003g0109 a0001c0001t0003g0132 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0350 a0001c0001t0004g0024 a0001c0001t0004g0046 a0001c0001t0004g0058 a0001c0001t0004g0108 a0001c0001t0004g0147 a0001c0001t0004g0160 a0001c0001t0004g0221 a0001c0001t0004g0238 a0001c0001t0004g0320 a0001c0001t0004g0323 a0001c0001t0004g0333 a0001c0001t0004g0335 a0001c0001t0004g0346 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0008g0017 a0001c0001t0008g0050 a0001c0001t0009g0033 a0001c0001t0009g0061 a0001c0001t0015g0328 a0001c0001t0017g0186 a0001c0002t0001g0063 a0001c0002t0002g0342 a0002c0004t0001g0062	133	364	0.3654	10	c.3+1 others(25): Show c.3+13859_3+13868dupAGCATTTCTC	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19486006	G G	GCCCAGCC others(3): Show GCCCAGCCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00621.hp1 others(4): Show HG00408.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 NA19002.hp2 NA19067.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0325 a0001c0001t0001g0360 a0001c0001t0002g0341 others(4): Show a0001c0001t0001g0325 a0001c0001t0001g0360 a0001c0001t0002g0341 a0001c0001t0002g0345 a0001c0001t0003g0350 a0001c0002t0002g0361 a0001c0002t0003g0359	7	364	0.0192	10	c.-57 others(19): Show c.-578_-569dupTTGGGCTGGG	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding		468		chr1	TogoVar
CARD11_chr7_2901142_3048867	2910745	A A	ACACACAC others(3): Show ACACACACACG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG02040.hp1 others(8): Show HG00558.hp2 HG00735.hp2 HG02040.hp1 HG02135.hp2 HG02523.hp1 HG02723.hp2 HG03209.hp1 NA18612.hp2 NA18974.hp1 NA20129.hp1 NA20905.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0006 a0001c0050 others(1): Show a0001c0001 a0001c0006 a0001c0050 a0011c0053	a0001c0001t0001 a0001c0001t0004 a0001c0006t0004 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0004 a0001c0050t0001 a0011c0053t0001	a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0168 others(8): Show a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0220 a0001c0001t0001g0248 a0001c0001t0004g0106 a0001c0001t0004g0276 a0001c0006t0004g0305 a0001c0050t0001g0221 a0011c0053t0001g0287	11	322	0.0342	10	c.314 others(27): Show c.3145-581_3145-580insCGTGTGTGTG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	23/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2933722	T T	TTCTTTCT others(3): Show TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	322	0.0031	10	c.151 others(27): Show c.1518+730_1518+731insGAAAGAAAGA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2941539	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0244 a0001c0007t0001g0244	1	322	0.0031	10	c.685 others(27): Show c.685-1621_685-1612dupTTTTTTTTTT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	5/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2951532	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0316 a0005c0019t0001g0316	1	322	0.0031	10	c.8-3 others(23): Show c.8-3755_8-3746dupAAAAAAAAAA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	2/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2974809	G G	GGAAAACT others(3): Show GGAAAACTTCA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	322	0.0031	10	c.-12 others(31): Show c.-125-16188_-125-16179dupTGAAGTTTTC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3004562	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0059 a0001c0010t0002g0059	1	322	0.0031	10	c.-12 others(31): Show c.-126+39095_-126+39104dupCACACACACA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3022938	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0094 a0001c0016t0001g0094	1	322	0.0031	10	c.-12 others(31): Show c.-126+20719_-126+20728dupTATATATATA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3040328	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	322	0.0031	10	c.-12 others(29): Show c.-126+3338_-126+3339insAAAAAAAAAA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80165033	C C	CATTTTAT others(3): Show CATTTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02083.hp2 HG02280.hp2 others(6): Show HG01891.hp1 HG02083.hp2 HG02280.hp2 NA18944.hp2 NA19003.hp1 NA19030.hp2 NA19074.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0010 a0015 a0028 a0030	a0001c0001 a0001c0069 a0002c0002 others(6): Show a0001c0001 a0001c0069 a0002c0002 a0002c0046 a0005c0014 a0010c0026 a0015c0035 a0028c0059 a0030c0039	a0001c0001t0002 a0001c0069t0002 a0002c0002t0001 others(6): Show a0001c0001t0002 a0001c0069t0002 a0002c0002t0001 a0002c0046t0001 a0005c0014t0002 a0010c0026t0004 a0015c0035t0001 a0028c0059t0025 a0030c0039t0002	a0001c0001t0002g0096 a0001c0069t0002g0326 a0002c0002t0001g0322 others(6): Show a0001c0001t0002g0096 a0001c0069t0002g0326 a0002c0002t0001g0322 a0002c0046t0001g0136 a0005c0014t0002g0094 a0010c0026t0004g0044 a0015c0035t0001g0122 a0028c0059t0025g0137 a0030c0039t0002g0191	9	376	0.0239	10	c.-57 others(21): Show c.-5713_-5712insATTTTATTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding		4996		chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp2 HG02809.hp2 HG01496.hp2 HG02809.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0011 a0001c0024t0011	a0001c0024t0011g0360 a0001c0024t0011g0362 a0001c0024t0011g0360 a0001c0024t0011g0362	2	376	0.0053	10	c.-68 others(24): Show c.-689-17_-689-8dupTTTTTTTTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD19_chr9_93091217_93118283	93106414	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(122): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG03041.hp1 HG03098.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18970.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18999.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19087.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 a0001c0005t0003	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0013 others(58): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0003g0012 a0001c0001t0003g0048 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0099 a0001c0002t0003g0012 a0001c0002t0004g0049 a0001c0005t0003g0012 a0001c0005t0003g0028	125	358	0.3492	10	c.8-1 others(23): Show c.8-1253_8-1244dupAAAAAAAAAA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CARD19_chr9_93091217_93118283	93115702	G G	GGGATGAG others(3): Show GGGATGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0057 a0006c0010t0002g0057	1	358	0.0028	10	c.25 others(21): Show c.2595_*2596insGGATGAGGGA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2420		chr9	TogoVar
CARD6_chr5_40836367_40860354	40850413	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19076.hp1 NA20129.hp2 HG02965.hp1 NA19076.hp1 NA20129.hp2	a0007 a0009 a0007 a0009	a0007c0008 a0009c0009 a0007c0008 a0009c0009	a0007c0008t0009 a0009c0009t0001 a0007c0008t0009 a0009c0009t0001	a0007c0008t0009g0135 a0007c0008t0009g0136 a0009c0009t0001g0085 a0007c0008t0009g0135 a0007c0008t0009g0136 a0009c0009t0001g0085	3	440	0.0068	10	c.842 others(27): Show c.842-1750_842-1741dupAAAAAAAAAA	CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CARD8_chr19_48203086_48260912	48207734	G G	GGTTTTTT others(3): Show GGTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0060 a0001c0005t0060	a0001c0005t0060g0324 a0001c0005t0060g0324	1	362	0.0028	10	c.39 others(21): Show c.3975_*3976insAAAAAAAAAC	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		351		chr19	TogoVar
CARD8_chr19_48203086_48260912	48233847	C C	CTGGAAGT others(3): Show CTGGAAGTCTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp2 HG03516.hp2 others(1): Show HG02451.hp2 HG02970.hp2 HG03516.hp2 NA18906.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0044 a0002c0001t0001g0001 a0002c0001t0001g0044	4	362	0.0111	10	c.350 others(25): Show c.350+555_350+556insTAGACTTCCA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	6/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48252808	T T	TATATACA others(3): Show TATATACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02148.hp1 HG04199.hp1 others(1): Show HG00423.hp2 HG02148.hp1 HG04199.hp1 NA18982.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0011 a0002c0001t0004 a0002c0001t0011	a0002c0001t0004g0304 a0002c0001t0004g0306 a0002c0001t0004g0307 others(1): Show a0002c0001t0004g0304 a0002c0001t0004g0306 a0002c0001t0004g0307 a0002c0001t0011g0305	4	362	0.0111	10	c.-25 others(29): Show c.-251-2962_-251-2961insGTGTGTATAT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	1/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48252808	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02083.hp1 HG02970.hp2 others(4): Show HG02027.hp2 HG02083.hp1 HG02970.hp2 NA18970.hp2 NA19010.hp2 NA19067.hp1 NA19077.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0006 a0001c0003 a0002c0001 a0003c0006	a0001c0003t0005 a0001c0003t0014 a0002c0001t0001 others(1): Show a0001c0003t0005 a0001c0003t0014 a0002c0001t0001 a0003c0006t0003	a0001c0003t0005g0046 a0001c0003t0005g0047 a0001c0003t0005g0048 others(4): Show a0001c0003t0005g0046 a0001c0003t0005g0047 a0001c0003t0005g0048 a0001c0003t0014g0043 a0002c0001t0001g0044 a0002c0001t0001g0049 a0003c0006t0003g0045	7	362	0.0193	10	c.-25 others(29): Show c.-251-2962_-251-2961insGTGTATATAT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	1/13			chr19	TogoVar
CARD9_chr9_136358956_136378669	136378094	G G	GCCGCTCC others(3): Show GCCGCTCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	406	0.0025	10	c.-45 others(21): Show c.-4580_-4579insGCAGGAGCGG	CARD9	ENSG00000187796.16	transcript	ENST00000371732.10	protein_coding		4426		chr9	TogoVar
CARF_chr2_202907275_202993263	202917210	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0047 a0003c0003t0047	a0003c0003t0047g0001 a0003c0003t0047g0001	2	334	0.0060	10	c.-32 others(27): Show c.-329-650_-329-641dupAAAAAAAAAA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202935101	A A	AATATATA others(3): Show AATATATAATT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	334	0.0030	10	c.-43 others(27): Show c.-43-6746_-43-6737dupATATAATTAT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202943587	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00621.hp2 others(23): Show HG00323.hp1 HG00544.hp2 HG00621.hp2 HG01106.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG02071.hp1 HG02109.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03688.hp1 HG03942.hp1 NA18946.hp2 NA18951.hp2 NA18959.hp2 NA18965.hp1 NA18978.hp2 NA18981.hp2 NA18995.hp1 NA19065.hp2 NA19081.hp1 NA19086.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0042 a0001c0001t0062 a0001c0001t0066 a0001c0001t0103 a0001c0005t0040 a0001c0008t0015	a0001c0001t0001g0054 a0001c0001t0001g0094 a0001c0001t0001g0095 others(22): Show a0001c0001t0001g0054 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0200 a0001c0001t0002g0136 a0001c0001t0004g0053 a0001c0001t0004g0151 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0294 a0001c0001t0006g0159 a0001c0001t0009g0157 a0001c0001t0021g0003 a0001c0001t0025g0091 a0001c0001t0028g0092 a0001c0001t0029g0300 a0001c0001t0029g0301 a0001c0001t0042g0299 a0001c0001t0062g0122 a0001c0001t0066g0044 a0001c0001t0103g0292 a0001c0005t0040g0147 a0001c0008t0015g0243	26	334	0.0778	10	c.306 others(25): Show c.306+654_306+663dupCACACACACA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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