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
CYP4F8_chr19_15610218_15635639	15626605	A A	ATATCTAT others(9): Show ATATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03704.hp1 NA19070.hp1 HG00558.hp1 HG03704.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0147 a0001c0002t0002g0152 a0001c0002t0002g0153	3	412	0.0073	16	c.111 others(35): Show c.1116-1671_1116-1656dupATCTATCTATCTATCT	CYP4F8	ENSG00000186526.13	transcript	ENST00000612078.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4V2_chr4_186186567_186218463	186188287	T T	TAATAAAT others(9): Show TAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0008 a0004c0003t0008	a0004c0003t0008g0168 a0004c0003t0008g0168	1	452	0.0022	16	c.-35 others(27): Show c.-3537_-3536insAATAAATAAATAAATA	CYP4V2	ENSG00000145476.16	transcript	ENST00000378802.5	protein_coding		3279		chr4	TogoVar
CYP4V2_chr4_186186567_186218463	186211694	C C	CACACACA others(9): Show CACACACACACACACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG01257.hp1 HG01258.hp1 others(17): Show HG00099.hp1 HG01257.hp1 HG01258.hp1 HG02080.hp2 HG02976.hp1 HG03098.hp1 HG03486.hp1 HG03492.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18943.hp2 NA18998.hp2 NA19002.hp1 NA19007.hp1 NA19068.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0002c0023 a0004c0003 a0002c0001 a0002c0023 a0004c0003	a0002c0001t0027 a0002c0001t0030 a0002c0001t0033 others(4): Show a0002c0001t0027 a0002c0001t0030 a0002c0001t0033 a0002c0001t0058 a0002c0001t0088 a0002c0023t0027 a0004c0003t0015	a0002c0001t0027g0005 a0002c0001t0027g0026 a0002c0001t0027g0143 others(13): Show a0002c0001t0027g0005 a0002c0001t0027g0026 a0002c0001t0027g0143 a0002c0001t0030g0005 a0002c0001t0030g0033 a0002c0001t0033g0067 a0002c0001t0033g0076 a0002c0001t0033g0189 a0002c0001t0058g0239 a0002c0001t0088g0011 a0002c0023t0027g0223 a0004c0003t0015g0014 a0004c0003t0015g0031 a0004c0003t0015g0044 a0004c0003t0015g0090 a0004c0003t0015g0101	20	452	0.0443	16	c.10 others(27): Show c.1056_*1057insCACACACACACATACA	CYP4V2	ENSG00000145476.16	transcript	ENST00000378802.5	protein_coding	11/11	1057	INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP4X1_chr1_47018669_47055751	47036368	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG04228.hp2 NA18950.hp1 others(4): Show HG02818.hp1 HG04228.hp2 NA18950.hp1 NA18960.hp2 NA19004.hp1 NA19010.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0015 a0001c0001t0001g0042	7	350	0.0200	16	c.775 others(31): Show c.775+198_775+199insATATATATATATATAT	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4X1_chr1_47018669_47055751	47036370	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01255.hp1 HG02040.hp1 others(16): Show HG00558.hp2 HG01255.hp1 HG02040.hp1 HG02698.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 NA18942.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp1 NA18987.hp1 NA18989.hp1 NA19004.hp2 NA19064.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0048 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0086	19	350	0.0543	16	c.775 others(31): Show c.775+200_775+215dupTATATATATATATATA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4X1_chr1_47018669_47055751	47036379	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01358.hp1 others(4): Show HG01069.hp2 HG01071.hp2 HG01358.hp1 HG01981.hp1 HG02004.hp2 HG02148.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0013 a0001c0001t0001g0044	7	350	0.0200	16	c.775 others(31): Show c.775+215_775+216insTATATATACATATATA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4Z1_chr1_47062231_47123318	47071982	T T	TGATAGAT others(9): Show TGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp2 HG03041.hp1 others(2): Show HG02055.hp1 HG02717.hp2 HG03041.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0098 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100	5	318	0.0157	16	c.319 others(33): Show c.319+3229_319+3244dupATAGATAGATAGATAG	CYP4Z1	ENSG00000186160.5	transcript	ENST00000334194.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP51A1_chr7_92107153_92139477	92128428	C C	CTCTGTGT others(9): Show CTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 NA18992.hp2 others(1): Show HG02258.hp1 HG02622.hp1 NA18992.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0111 a0001c0002t0002g0122 others(1): Show a0001c0002t0002g0061 a0001c0002t0002g0111 a0001c0002t0002g0122 a0001c0002t0002g0127	4	392	0.0102	16	c.468 others(31): Show c.468+451_468+452insCACACACACACACAGA	CYP51A1	ENSG00000001630.18	transcript	ENST00000003100.13	protein_coding	3/9			chr7	TogoVar
CYP51A1_chr7_92107153_92139477	92128455	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	392	0.0026	16	c.468 others(31): Show c.468+424_468+425insGCACACACACACACAC	CYP51A1	ENSG00000001630.18	transcript	ENST00000003100.13	protein_coding	3/9			chr7	TogoVar
CYP7A1_chr8_58485178_58505163	58495215	T T	TTCTATTT others(9): Show TTCTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01175.hp2 HG01496.hp2 others(5): Show HG00609.hp1 HG01175.hp2 HG01496.hp2 HG02129.hp2 HG02735.hp2 HG03017.hp1 HG03453.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0016 a0001c0001t0001g0090 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0009g0083	8	456	0.0175	16	c.909 others(31): Show c.909-580_909-579insTAAATAAATAAATAGA	CYP7A1	ENSG00000167910.4	transcript	ENST00000301645.4	protein_coding	3/5			chr8	TogoVar
CYP7A1_chr8_58485178_58505163	58495215	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02129.hp1 HG02886.hp2 others(5): Show HG01109.hp1 HG02129.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 NA18522.hp2 NA18979.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0001g0056 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0003t0001g0063	8	456	0.0175	16	c.909 others(31): Show c.909-595_909-580dupTAAATAAATAAATAAA	CYP7A1	ENSG00000167910.4	transcript	ENST00000301645.4	protein_coding	3/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64730751	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02145.hp2 HG02559.hp1 others(4): Show HG01071.hp2 HG02145.hp2 HG02559.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0007 a0002c0002t0039 a0002c0002t0006 a0002c0002t0007 a0002c0002t0039	a0002c0002t0006g0009 a0002c0002t0006g0010 a0002c0002t0006g0011 others(4): Show a0002c0002t0006g0009 a0002c0002t0006g0010 a0002c0002t0006g0011 a0002c0002t0007g0007 a0002c0002t0007g0008 a0002c0002t0007g0014 a0002c0002t0039g0012	7	258	0.0271	16	c.122 others(35): Show c.122+67699_122+67714dupTGTGTGTGTGTGTGTG	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64771047	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01934.hp2 HG02280.hp2 others(2): Show HG01169.hp1 HG01934.hp2 HG02280.hp2 HG03209.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0019 a0001c0001t0028 others(1): Show a0001c0001t0014 a0001c0001t0019 a0001c0001t0028 a0001c0001t0041	a0001c0001t0014g0068 a0001c0001t0014g0075 a0001c0001t0019g0110 others(2): Show a0001c0001t0014g0068 a0001c0001t0014g0075 a0001c0001t0019g0110 a0001c0001t0028g0104 a0001c0001t0041g0106	5	258	0.0194	16	c.122 others(35): Show c.122+27403_122+27418dupAAAAAAAAAAAAAAAA	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64778174	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp1 NA18941.hp2 others(1): Show HG03130.hp1 HG03195.hp1 NA18941.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0044 a0001c0001t0005 a0001c0001t0007 a0001c0001t0044	a0001c0001t0005g0086 a0001c0001t0007g0095 a0001c0001t0007g0096 others(1): Show a0001c0001t0005g0086 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0044g0201	4	258	0.0155	16	c.122 others(35): Show c.122+20276_122+20291dupATATATATATATATAT	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYRIA_chr2_16544459_16670834	16610897	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG01261.hp2 others(21): Show HG00323.hp2 HG00609.hp2 HG01261.hp2 HG02015.hp1 HG02083.hp1 HG02155.hp2 HG02615.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 NA18906.hp1 NA18942.hp2 NA18952.hp1 NA18966.hp1 NA18966.hp2 NA18998.hp1 NA19009.hp2 NA19011.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015	a0001c0001t0001g0033 a0001c0001t0001g0113 a0001c0001t0001g0189 others(21): Show a0001c0001t0001g0033 a0001c0001t0001g0113 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0241 a0001c0001t0001g0261 a0001c0001t0002g0019 a0001c0001t0002g0046 a0001c0001t0002g0066 a0001c0001t0002g0138 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0181 a0001c0001t0002g0230 a0001c0001t0003g0028 a0001c0001t0004g0083 a0001c0001t0005g0017 a0001c0001t0005g0115 a0001c0001t0005g0269 a0001c0001t0007g0144 a0001c0001t0007g0177 a0001c0001t0015g0031	24	290	0.0828	16	c.-11 others(35): Show c.-11+12951_-11+12966dupATATATATATATATAT	CYRIA	ENSG00000197872.11	transcript	ENST00000381323.7	protein_coding	2/11			chr2	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 NA18906.hp1 HG02486.hp2 HG03098.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0027g0274 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0027g0274	3	288	0.0104	16	c.-13 others(37): Show c.-136-25781_-136-25780insTATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTTTATAT others(9): Show TTTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	288	0.0035	16	c.-13 others(37): Show c.-136-25781_-136-25780insTATATATATATATAAA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYSLTR2_chr13_48648929_48716226	48687332	C C	CATCTATC others(9): Show CATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0165 a0001c0001t0011g0165	1	318	0.0031	16	c.-26 others(35): Show c.-265-3873_-265-3858dupCTATCTATCTATCTAT	CYSLTR2	ENSG00000152207.8	transcript	ENST00000682523.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYSLTR2_chr13_48648929_48716226	48695068	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	318	0.0031	16	c.-10 others(35): Show c.-102-1447_-102-1432dupTTTTTTTTTTTTTTTT	CYSLTR2	ENSG00000152207.8	transcript	ENST00000682523.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYSTM1_chr5_140170188_140248789	140178441	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(34): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG01106.hp1 HG01175.hp2 HG01261.hp1 HG01952.hp2 HG02027.hp1 HG02056.hp1 HG02109.hp1 HG02280.hp1 HG02559.hp1 HG03017.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 NA18943.hp2 NA18950.hp1 NA18955.hp2 NA18971.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18985.hp2 NA19000.hp2 NA19004.hp2 NA19012.hp2 NA19043.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19079.hp1 NA19081.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0002g0111 a0001c0001t0002g0112 others(33): Show a0001c0001t0001g0019 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0003g0008 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0110 a0001c0001t0003g0113 a0001c0001t0003g0116 a0001c0001t0003g0123 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170	37	324	0.1142	16	c.-21 others(33): Show c.-21+3166_-21+3181dupTTTTTTTTTTTTTTTT	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYSTM1_chr5_140170188_140248789	140200557	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	324	0.0031	16	c.187 others(33): Show c.187+5911_187+5926dupTTTTTTTTTTTTTTTT	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYSTM1_chr5_140170188_140248789	140212983	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG00733.hp2 others(7): Show HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01169.hp1 HG01192.hp1 HG01496.hp2 NA18941.hp1 NA18943.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0039 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0088	10	324	0.0309	16	c.187 others(35): Show c.187+18332_187+18333insGTATATATATATATAT	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYSTM1_chr5_140170188_140248789	140226586	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01243.hp1 others(12): Show HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01358.hp2 HG02129.hp2 HG02148.hp1 HG02572.hp2 HG02738.hp2 HG03041.hp1 HG03540.hp1 HG04228.hp1 NA18970.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0066 others(12): Show a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0003g0303	15	324	0.0463	16	c.188 others(35): Show c.188-16708_188-16693dupTATATATATATATATA	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYTH1_chr17_78669048_78787273	78690393	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	378	0.0027	16	c.891 others(33): Show c.891+2008_891+2023dupTTTTTTTTTTTTTTTT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	11/13			chr17	TogoVar
CYTH1_chr17_78669048_78787273	78718218	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02257.hp1 NA20300.hp2 HG01123.hp2 HG02257.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0355 a0001c0001t0003g0369 a0001c0001t0003g0088 a0001c0001t0003g0355 a0001c0001t0003g0369	3	378	0.0079	16	c.23- others(31): Show c.23-8502_23-8487dupGTGTGTGTGTGTGTGT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
CYTH1_chr17_78669048_78787273	78753529	A A	ATAAATAA others(9): Show ATAAATAAATAAATAAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0036 a0001c0001t0005g0036	1	378	0.0027	16	c.22+ others(33): Show c.22+28672_22+28673insCTTATTTATTTATTTA	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATATAAT others(9): Show TATATAATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	348	0.0029	16	c.34+ others(33): Show c.34+12701_34+12702insTATATATATATTATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259793	A A	ATATAATA others(9): Show ATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG01243.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0034 a0001c0001t0005 a0001c0001t0034	a0001c0001t0005g0333 a0001c0001t0034g0337 a0001c0001t0005g0333 a0001c0001t0034g0337	2	348	0.0058	16	c.34+ others(33): Show c.34+12680_34+12681insATATATATATATTATA	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH4_chr22_37277508_37320341	37282283	C C	CCGTTTGT others(9): Show CCGTTTGTTTGTTTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0288 a0001c0002t0005g0288	1	404	0.0025	16	c.-28 others(25): Show c.-287_-286insCGTTTGTTTGTTTGTT	CYTH4	ENSG00000100055.21	transcript	ENST00000248901.11	protein_coding		224		chr22	TogoVar
CYTH4_chr22_37277508_37320341	37314197	A A	ACGTATTG others(9): Show ACGTATTGGCCCCTGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0149 a0001c0001t0041g0149	1	404	0.0025	16	c.68 others(25): Show c.687_*702dupCGTATTGGCCCCTGCT	CYTH4	ENSG00000100055.21	transcript	ENST00000248901.11	protein_coding	13/13	703	INFO_REALIGN_3_PRIME	chr22	TogoVar
CYYR1_chr21_26461216_26578286	26476585	C C	CATCTATC others(9): Show CATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	316	0.0032	16	c.334 others(33): Show c.334+3671_334+3686dupAGATAGATAGATAGAT	CYYR1	ENSG00000166265.13	transcript	ENST00000652641.2	protein_coding	3/3			chr21	TogoVar
CYYR1_chr21_26461216_26578286	26488240	A A	ACTTACTT others(9): Show ACTTACTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG02970.hp2 others(1): Show HG01099.hp2 HG01167.hp1 HG02970.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0220 a0001c0001t0001g0306 a0001c0001t0004g0102 others(1): Show a0001c0001t0001g0220 a0001c0001t0001g0306 a0001c0001t0004g0102 a0001c0001t0004g0178	4	316	0.0127	16	c.177 others(33): Show c.177-7812_177-7811insGAAGGAAGGAAGTAAG	CYYR1	ENSG00000166265.13	transcript	ENST00000652641.2	protein_coding	2/3			chr21	TogoVar
CYYR1_chr21_26461216_26578286	26488240	A A	ACTTCCTT others(9): Show ACTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18942.hp1 NA18999.hp2 HG03654.hp2 NA18942.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0004	a0001c0001t0005g0194 a0001c0002t0001g0174 a0001c0002t0004g0246 a0001c0001t0005g0194 a0001c0002t0001g0174 a0001c0002t0004g0246	3	316	0.0095	16	c.177 others(33): Show c.177-7827_177-7812dupGAAGGAAGGAAGGAAG	CYYR1	ENSG00000166265.13	transcript	ENST00000652641.2	protein_coding	2/3			chr21	TogoVar
CYYR1_chr21_26461216_26578286	26520111	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02109.hp1 HG03041.hp1 others(8): Show HG00423.hp2 HG02109.hp1 HG03041.hp1 HG03098.hp1 HG03471.hp1 HG03516.hp1 HG03669.hp1 NA19054.hp1 NA19057.hp2 NA19072.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0107 a0001c0001t0001g0169 a0001c0001t0002g0091 others(8): Show a0001c0001t0001g0107 a0001c0001t0001g0169 a0001c0001t0002g0091 a0001c0001t0002g0106 a0001c0001t0003g0253 a0001c0001t0005g0190 a0001c0002t0001g0075 a0001c0002t0002g0308 a0001c0002t0003g0309 a0001c0002t0003g0310 a0001c0002t0004g0051	11	316	0.0348	16	c.177 others(35): Show c.177-39683_177-39682insATATATATATATATAT	CYYR1	ENSG00000166265.13	transcript	ENST00000652641.2	protein_coding	2/3			chr21	TogoVar
CYYR1_chr21_26461216_26578286	26562799	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01928.hp1 HG02055.hp2 others(12): Show HG01433.hp2 HG01928.hp1 HG02055.hp2 HG02647.hp2 HG02809.hp1 HG02965.hp2 HG03209.hp1 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18963.hp1 NA18963.hp2 NA18999.hp1 NA19005.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0100 a0001c0001t0001g0135 a0001c0001t0001g0138 others(12): Show a0001c0001t0001g0100 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0002g0141 a0001c0001t0002g0200 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0005g0193 a0001c0001t0015g0003 a0001c0001t0019g0250 a0001c0002t0001g0137 a0001c0002t0003g0136	15	316	0.0475	16	c.176 others(33): Show c.176+3451_176+3466dupGTGTGTGTGTGTGTGT	CYYR1	ENSG00000166265.13	transcript	ENST00000652641.2	protein_coding	2/3			chr21	TogoVar
CZIB_chr1_53209099_53225634	53224830	T T	TATATATA others(9): Show TATATATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	16	c.-42 others(27): Show c.-4256_-4255insCTATCTATCTATATAT	CZIB	ENSG00000162384.14	transcript	ENST00000294360.5	protein_coding		4197		chr1	TogoVar
CZIB_chr1_53209099_53225634	53224840	T T	TAGACAGA others(9): Show TAGACAGACAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	436	0.0023	16	c.-42 others(27): Show c.-4266_-4265insGTCTGTCTGTCTGTCT	CZIB	ENSG00000162384.14	transcript	ENST00000294360.5	protein_coding		4207		chr1	TogoVar
CZIB_chr1_53209099_53225634	53224840	T T	TAGATAGA others(9): Show TAGATAGATAGATAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	436	0.0023	16	c.-42 others(27): Show c.-4266_-4265insGTCTATCTATCTATCT	CZIB	ENSG00000162384.14	transcript	ENST00000294360.5	protein_coding		4207		chr1	TogoVar
D2HGDH_chr2_241729630_241773811	241750379	T T	TGGGCGGG others(9): Show TGGGCGGGGGGGTGCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0101 a0004c0005t0002g0101	1	412	0.0024	16	c.997 others(29): Show c.997+95_997+96insGTGCCCGGGCGGGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241758769	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp2 NA18948.hp2 others(2): Show HG01123.hp1 HG01175.hp2 NA18948.hp2 NA18982.hp1 NA19081.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 others(1): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0003c0003t0013	a0002c0002t0001g0191 a0002c0002t0001g0205 a0002c0002t0004g0197 others(2): Show a0002c0002t0001g0191 a0002c0002t0001g0205 a0002c0002t0004g0197 a0002c0002t0009g0293 a0003c0003t0013g0370	5	412	0.0121	16	c.130 others(35): Show c.1306+2783_1306+2798dupGTGTGTGTGTGTGTGT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAAM1_chr14_59183667_59376403	59209237	C C	CCAGCCTG others(9): Show CCAGCCTGCAGGCTGTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(121): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18952.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA19004.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0012 a0002c0005 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0070 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0023 a0001c0003t0065 a0001c0004t0014 a0001c0004t0043 a0001c0004t0050 a0001c0004t0072 a0001c0007t0032 a0001c0008t0024 a0001c0008t0058 a0001c0012t0044 a0002c0005t0019 a0002c0005t0031 a0002c0005t0054 a0002c0005t0057 a0004c0010t0003	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0200 others(120): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0227 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0003g0002 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0189 a0001c0001t0003g0278 a0001c0001t0005g0176 a0001c0001t0005g0280 a0001c0001t0006g0236 a0001c0001t0007g0228 a0001c0001t0007g0231 a0001c0001t0007g0233 a0001c0001t0007g0235 a0001c0001t0007g0250 a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0007g0260 a0001c0001t0007g0261 a0001c0001t0009g0008 a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0001t0010g0274 a0001c0001t0010g0281 a0001c0001t0010g0282 a0001c0001t0010g0283 a0001c0001t0011g0202 a0001c0001t0011g0239 a0001c0001t0011g0240 a0001c0001t0011g0273 a0001c0001t0011g0279 a0001c0001t0011g0287 a0001c0001t0012g0206 a0001c0001t0012g0242 a0001c0001t0012g0255 a0001c0001t0016g0201 a0001c0001t0016g0207 a0001c0001t0016g0223 a0001c0001t0020g0275 a0001c0001t0020g0276 a0001c0001t0022g0190 a0001c0001t0022g0191 a0001c0001t0027g0006 a0001c0001t0027g0007 a0001c0001t0027g0187 a0001c0001t0029g0179 a0001c0001t0029g0183 a0001c0001t0033g0277 a0001c0001t0033g0284 a0001c0001t0034g0230 a0001c0001t0034g0258 a0001c0001t0035g0232 a0001c0001t0035g0237 a0001c0001t0037g0004 a0001c0001t0037g0043 a0001c0001t0047g0184 a0001c0001t0048g0011 a0001c0001t0049g0271 a0001c0001t0052g0253 a0001c0001t0053g0267 a0001c0001t0064g0004 a0001c0001t0066g0044 a0001c0001t0067g0003 a0001c0001t0070g0009 a0001c0003t0001g0215 a0001c0003t0001g0219 a0001c0003t0001g0221 a0001c0003t0001g0225 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0251 a0001c0003t0001g0262 a0001c0003t0002g0195 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0002g0224 a0001c0003t0005g0017 a0001c0003t0023g0214 a0001c0003t0065g0248 a0001c0004t0014g0042 a0001c0004t0014g0045 a0001c0004t0014g0046 a0001c0004t0014g0047 a0001c0004t0043g0048 a0001c0004t0050g0049 a0001c0004t0072g0193 a0001c0007t0032g0226 a0001c0007t0032g0252 a0001c0008t0024g0268 a0001c0008t0058g0272 a0001c0012t0044g0010 a0002c0005t0019g0178 a0002c0005t0019g0188 a0002c0005t0019g0293 a0002c0005t0031g0177 a0002c0005t0054g0229 a0002c0005t0057g0192 a0004c0010t0003g0285	124	298	0.4161	16	c.-38 others(35): Show c.-38+20469_-38+20470insCAGCCTGCAGGCTGTT	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	1/24			chr14	TogoVar
DAAM1_chr14_59183667_59376403	59289767	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00741.hp1 others(11): Show HG00140.hp2 HG00639.hp1 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01978.hp1 HG02145.hp2 HG03098.hp1 HG03942.hp1 NA18522.hp1 NA18981.hp1 NA18995.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0002 a0001c0003t0006 a0001c0003t0009 others(4): Show a0001c0003t0002 a0001c0003t0006 a0001c0003t0009 a0001c0003t0020 a0001c0003t0046 a0001c0003t0059 a0001c0013t0015	a0001c0003t0002g0062 a0001c0003t0002g0093 a0001c0003t0002g0095 others(11): Show a0001c0003t0002g0062 a0001c0003t0002g0093 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0132 a0001c0003t0002g0149 a0001c0003t0002g0224 a0001c0003t0006g0133 a0001c0003t0009g0001 a0001c0003t0009g0050 a0001c0003t0020g0001 a0001c0003t0046g0005 a0001c0003t0059g0118 a0001c0013t0015g0290	14	298	0.0470	16	c.184 others(33): Show c.184-1448_184-1433dupTATATATATATATATA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM1_chr14_59183667_59376403	59327402	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0093 a0001c0003t0002g0093	1	298	0.0034	16	c.137 others(33): Show c.1372+420_1372+435dupTTTTTTTTTTTTTTTT	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM2_chr6_39787376_39909869	39831780	A A	AGGGGGCA others(9): Show AGGGGGCAGGTGCACTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0060 a0001c0004t0021g0060	1	300	0.0033	16	c.-56 others(35): Show c.-56-24461_-56-24446dupCAGGTGCACTGGGGGG	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
DAAM2_chr6_39787376_39909869	39837663	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	300	0.0033	16	c.-56 others(35): Show c.-56-18576_-56-18561dupAAAAAAAAAAAAAAAA	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
DAAM2_chr6_39787376_39909869	39895227	C C	CTTACTTA others(9): Show CTTACTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02280.hp2 HG01993.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0012 a0001c0006t0001g0295 a0001c0001t0001g0012 a0001c0006t0001g0295	2	300	0.0067	16	c.234 others(35): Show c.2342-1582_2342-1581insCTTATTTATTTATTTA	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
DAAM2_chr6_39787376_39909869	39895227	C C	CTTATTTA others(9): Show CTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01081.hp1 others(40): Show HG00323.hp1 HG00642.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02738.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA19002.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0012 a0016	a0001c0001 a0001c0005 a0001c0006 others(7): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0001c0025 a0001c0031 a0003c0011 a0004c0030 a0012c0034 a0016c0043	a0001c0001t0001 a0001c0001t0019 a0001c0001t0036 others(11): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0036 a0001c0005t0011 a0001c0006t0001 a0001c0006t0020 a0001c0008t0005 a0001c0008t0024 a0001c0025t0034 a0001c0031t0040 a0003c0011t0001 a0004c0030t0001 a0012c0034t0001 a0016c0043t0005	a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0039 others(40): Show a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0160 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0019g0050 a0001c0001t0019g0121 a0001c0001t0036g0225 a0001c0005t0011g0030 a0001c0005t0011g0042 a0001c0005t0011g0092 a0001c0005t0011g0124 a0001c0006t0001g0013 a0001c0006t0020g0285 a0001c0008t0005g0101 a0001c0008t0005g0165 a0001c0008t0005g0166 a0001c0008t0005g0286 a0001c0008t0024g0033 a0001c0025t0034g0300 a0001c0031t0040g0143 a0003c0011t0001g0003 a0003c0011t0001g0005 a0003c0011t0001g0006 a0004c0030t0001g0192 a0012c0034t0001g0232 a0016c0043t0005g0150	43	300	0.1433	16	c.234 others(35): Show c.2342-1574_2342-1559dupATTTATTTATTTATTT	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
DAB1_chr1_56989778_57429060	57049450	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	138	0.0073	16	c.723 others(35): Show c.723+13418_723+13433dupTTTTTTTTTTTTTTTT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	9/14			chr1	TogoVar
DAB1_chr1_56989778_57429060	57053660	C C	CTCTCTCT others(9): Show CTCTCTCTATATATGTA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	138	0.0073	16	c.723 others(33): Show c.723+9223_723+9224insTACATATATAGAGAGA	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	9/14			chr1	TogoVar
DAB1_chr1_56989778_57429060	57086644	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0062 a0001c0001t0009g0062	1	138	0.0073	16	c.307 others(35): Show c.307-14246_307-14231dupGTGTGTGTGTGTGTGT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	4/14			chr1	TogoVar

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