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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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
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(22): Show CTCCCTGCCCCCCCGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp2 NA19240.hp2 HG02647.hp2 HG02818.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0002	a0002c0002t0001g0179 a0003c0003t0002g0127 a0003c0003t0002g0128 a0002c0002t0001g0179 a0003c0003t0002g0127 a0003c0003t0002g0128	3	250	0.0120	29	c.-10 others(48): Show c.-107+5245_-107+5246insTCCCTGCCCCCCCGCTCCCCTCCCTG CAG		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(22): Show CTCCCTGCCCCCCTGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	250	0.0040	29	c.-10 others(48): Show c.-107+5245_-107+5246insTCCCTGCCCCCCTGCTCCCCTCCCTG CAG		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar
DPEP1_chr16_89608642_89643433	89618966	C C	CTGCCCCC others(22): Show CTGCCCCCCCCGCTCCCCTCCCCTGCAGCT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	250	0.0040	29	c.-10 others(48): Show c.-107+5247_-107+5248insTGCCCCCCCCGCTCCCCTCCCCTGCA GCT		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619063	C C	CCCCCCTG others(22): Show CCCCCCTGCTCCCCTCCCTGCAGCTCCCTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	250	0.0040	29	c.-10 others(48): Show c.-107+5349_-107+5350insTGCTCCCCTCCCTGCAGCTCCCTGCC CCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619124	C C	CCCTCCCT others(22): Show CCCTCCCTGCTCCCTCCCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp1 NA20905.hp1 HG02572.hp2 HG03486.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0084 a0001c0001t0001g0130 a0001c0001t0001g0132	3	250	0.0120	29	c.-10 others(48): Show c.-107+5407_-107+5408insTCCCTGCTCCCTCCCTGCAGCCCCCT GCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619208	C C	CCCCCTGC others(22): Show CCCCCTGCCCCCCCGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	250	0.0040	29	c.-10 others(48): Show c.-107+5493_-107+5494insTGCCCCCCCGCTCCCCTCCCTGCAGC CCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619208	C C	CTCCCTGC others(22): Show CTCCCTGCCCCCCTGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	250	0.0040	29	c.-10 others(48): Show c.-107+5489_-107+5490insTCCCTGCCCCCCTGCTCCCCTCCCTG CAG		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619208	C C	CTCCCTGC others(22): Show CTCCCTGCCCCCGCGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	250	0.0040	29	c.-10 others(48): Show c.-107+5489_-107+5490insTCCCTGCCCCCGCGCTCCCCTCCCTG CAG		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619246	C C	CCCCCCTG others(22): Show CCCCCCTGCTCCCCTCCCTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0061 a0002c0002t0003g0061	1	250	0.0040	29	c.-10 others(48): Show c.-107+5532_-107+5533insTGCTCCCCTCCCTGCAGCTCCATGCC CCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619270	T T	TCCATGCC others(22): Show TCCATGCCCCCCGCTCCCCTCCCTGCAGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	250	0.0040	29	c.-10 others(48): Show c.-107+5553_-107+5554insATGCCCCCCGCTCCCCTCCCTGCAGC CCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619397	C C	CCCCCCTG others(22): Show CCCCCCTGCTCCCCTCCCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	250	0.0040	29	c.-10 others(48): Show c.-107+5683_-107+5684insTGCTCCCCTCCCTGCAGCCCCCTGCC CCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619404	T T	TGCTCCCC others(22): Show TGCTCCCCTCCCTGCAGCTCCATGCCCCCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	250	0.0040	29	c.-10 others(48): Show c.-107+5702_-107+5703insTCCATGCCCCCCGCTCCCCTCCCTGC AGC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619434	T T	TGCTCCCC others(22): Show TGCTCCCCTCCCTGCAGCTCCATGCCCCCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02004.hp1 HG03927.hp1 HG01981.hp2 HG02004.hp1 HG03927.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0004c0005t0001 a0002c0002t0001 a0004c0005t0001	a0002c0002t0001g0143 a0002c0002t0001g0183 a0004c0005t0001g0181 a0002c0002t0001g0143 a0002c0002t0001g0183 a0004c0005t0001g0181	3	250	0.0120	29	c.-10 others(48): Show c.-107+5732_-107+5733insTCCATGCCCCCCGCTCCCCTCCCTGC AGC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619658	C C	CCCCCCCG others(22): Show CCCCCCCGCTCCCCTCCCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	250	0.0040	29	c.-10 others(48): Show c.-107+5939_-107+5940insCCCCCCGCTCCCCTCCCTGCAGCCCC CTG		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar
DPEP1_chr16_89608642_89643433	89630649	C C	CCGGGGCT others(22): Show CCGGGGCTGGGGGAGCCGGGGCTGGGGGAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG02486.hp2 others(4): Show HG01192.hp2 HG01243.hp1 HG02486.hp2 HG03098.hp1 HG03453.hp1 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0167 a0001c0001t0002g0168 others(4): Show a0001c0001t0002g0090 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172	7	250	0.0280	29	c.104 others(44): Show c.104+155_104+156insCTGGGGGAGCGGGGCTGGGGGAGCCGGGG		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634604	C C	CCCTTTCC others(22): Show CCCTTTCCCTTCCTTCCCTTTCCCCTTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00609.hp1 others(26): Show HG00280.hp2 HG00423.hp1 HG00609.hp1 HG01243.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp2 NA18999.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19064.hp2 NA19081.hp1 NA19081.hp2 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0011 a0002c0002 others(1): Show a0001c0001 a0001c0011 a0002c0002 a0006c0008	a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 a0006c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0048 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0011t0001g0017 a0002c0002t0001g0105 a0002c0002t0001g0110 a0002c0002t0001g0115 a0002c0002t0001g0118 a0006c0008t0001g0101	29	250	0.1160	29	c.105 others(46): Show c.105-1304_105-1303insCCTTTCCCTTCCTTCCCTTTCCCCTTCC T		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10						chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634828	C C	CCCTTTCC others(22): Show CCCTTTCCCTTCCTTCCCTTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	250	0.0040	29	c.105 others(46): Show c.105-1080_105-1079insCCTTTCCCTTCCTTCCCTTTCCCTTCCT T		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10						chr16	TogoVar
DPF3_chr14_72604034_72899101	72756928	A A	AAGAAAGA others(22): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0081 a0001c0001t0059g0081	1	234	0.0043	29	c.194 others(46): Show c.194-3558_194-3557insCTTCTTTCTTTCTTTCTTTCTTTCTTTC T		DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10						chr14	TogoVar
DPH1_chr17_2025153_2048898	2035430	A A	AGGGGGCC others(22): Show AGGGGGCCCTGCCTGTGGTGGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03579.hp1 HG04115.hp1 HG03486.hp2 HG03579.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0070 a0001c0001t0006g0048 a0001c0001t0001g0070 a0001c0001t0006g0048	3	392	0.0077	29	c.279 others(44): Show c.279-539_279-538insGGGGCCCTGCCTGTGGTGGGGAGGGGGTG		DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
DPH1_chr17_2025153_2048898	2035473	A A	AGGGGGCC others(22): Show AGGGGGCCCTGCCTGTGGTGGGGAGGGGGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	392	0.0026	29	c.279 others(44): Show c.279-470_279-442dupGGTGGGGGCCCTGCCTGTGGTGGGGAGGG		DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	228	0.0044	29	c.312 others(48): Show c.312+41706_312+41707insATATATATATATTTTTTTTTTTTTTT TTT		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8						chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03098.hp2 HG02132.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0049 a0001c0001t0001g0079	2	228	0.0088	29	c.312 others(48): Show c.312+41706_312+41707insATATATATATATATTTTTTTTTTTTT TTT		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8						chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03453.hp1 HG01346.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0068 a0002c0002t0001g0196 a0001c0001t0001g0068 a0002c0002t0001g0196	2	228	0.0088	29	c.312 others(48): Show c.312+41706_312+41707insATATATATATATATATTTTTTTTTTT TTT		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8						chr15	TogoVar
DPM3_chr1_155134891_155145531	155145145	A A	ATGTCACT others(22): Show ATGTCACTATGATTCCTATGTGTCAGGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	29	c.-46 others(40): Show c.-4661_-4660insGTGCCTGACACATAGGAATCATAGTGACA		DPM3	ENSG00000179085.8	transcript	ENST00000368400.5	protein_coding					4615		chr1	TogoVar
DPP10_chr2_114437641_115850780	114834263	A A	ATCTACAC others(22): Show ATCTACACACCTATGTATATATAAGCCATG	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA20129.hp2 HG02896.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0002	a0001c0002t0001g0004 a0002c0001t0002g0054 a0001c0002t0001g0004 a0002c0001t0002g0054	2	56	0.0357	29	c.60+ others(48): Show c.60+391475_60+391503dupTAAGCCATGTCTACACACCTATGTAT ATA		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114834326	C C	CACACCTA others(22): Show CACACCTATGTATATATAAGCCATGTCTAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp1 HG03098.hp1 others(1): Show HG00639.hp1 HG02896.hp1 HG03098.hp1 HG03579.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0004 a0003c0003 others(1): Show a0001c0002 a0001c0004 a0003c0003 a0004c0005	a0001c0002t0001 a0001c0004t0004 a0003c0003t0003 others(1): Show a0001c0002t0001 a0001c0004t0004 a0003c0003t0003 a0004c0005t0016	a0001c0002t0001g0010 a0001c0004t0004g0021 a0003c0003t0003g0039 others(1): Show a0001c0002t0001g0010 a0001c0004t0004g0021 a0003c0003t0003g0039 a0004c0005t0016g0044	4	56	0.0714	29	c.60+ others(48): Show c.60+391503_60+391504insTAAGCCATGTCTATACACCTATGTAT ATA		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114834700	A A	ATCTACAC others(22): Show ATCTACACACCTATGTATATATAAGCCATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp2 NA19043.hp1 others(2): Show HG02280.hp2 HG03098.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0004 a0002c0001 others(1): Show a0001c0002 a0001c0004 a0002c0001 a0004c0005	a0001c0002t0001 a0001c0004t0004 a0001c0004t0007 others(2): Show a0001c0002t0001 a0001c0004t0004 a0001c0004t0007 a0002c0001t0001 a0004c0005t0012	a0001c0002t0001g0022 a0001c0004t0004g0013 a0001c0004t0007g0055 others(2): Show a0001c0002t0001g0022 a0001c0004t0004g0013 a0001c0004t0007g0055 a0002c0001t0001g0020 a0004c0005t0012g0031	5	56	0.0893	29	c.60+ others(48): Show c.60+391868_60+391896dupACACCTATGTATATATAAGCCATGTC TAC		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114834851	A A	ACACCTAT others(22): Show ACACCTATGTATATATAAGCCATGTCTACC	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18986.hp2 HG01175.hp2 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0015 a0001c0002t0001 a0002c0001t0015	a0001c0002t0001g0047 a0002c0001t0015g0018 a0001c0002t0001g0047 a0002c0001t0015g0018	2	56	0.0357	29	c.60+ others(48): Show c.60+392027_60+392028insTAAGCCATGTCTACCCACCTATGTAT ATA		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114835209	A A	ATATATAG others(22): Show ATATATAGGACATATCTACACACCTATGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	56	0.0179	29	c.60+ others(48): Show c.60+392400_60+392428dupGTATATAGGACATATCTACACACCTA TGT		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115334230	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0027 a0002c0001t0005g0027	1	56	0.0179	29	c.176 others(46): Show c.176-9571_176-9570insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115712566	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0034 a0001c0002t0009g0034	1	56	0.0179	29	c.577 others(48): Show c.577-15250_577-15249insTATATATATATATATATATATATATA TAT		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	7/25						chr2	TogoVar
DPP10_chr2_114437641_115850780	115767476	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTATATATATATACACATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	56	0.0179	29	c.111 others(46): Show c.1114-809_1114-808insATATATATATACACATAGTGTGTGTGTG T		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154865526	A A	ATTTTCCA others(22): Show ATTTTCCATCAACTTCTAAACACCAGAAAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	38	0.0263	29	c.171 others(48): Show c.1715-2428_1715-2400dupCTTCTAAACACCAGAAACTTTTCCAT CAA		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	17/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYSL5_chr2_26843132_26955351	26936945	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0065 a0001c0001t0013g0065	1	232	0.0043	29	c.947 others(46): Show c.947+2227_947+2228insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DR1_chr1_93340907_93374493	93344857	T T	TTATATAT others(22): Show TTATATATATATATATATAAATATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0011 a0001c0001t0070g0011	1	360	0.0028	29	c.-17 others(40): Show c.-1789_-1788insTATATATATATATATATAAATATATATTA		DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding					1049		chr1	TogoVar
DR1_chr1_93340907_93374493	93344857	T T	TTATATAT others(22): Show TTATATATTTATATATATAAATATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0060 a0002c0002t0060	a0002c0002t0060g0042 a0002c0002t0060g0042	1	360	0.0028	29	c.-17 others(40): Show c.-1789_-1788insTATATATTTATATATATAAATATATATTA		DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding					1049		chr1	TogoVar
DR1_chr1_93340907_93374493	93344875	A A	AAATATAT others(22): Show AAATATATATTATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0011 a0001c0001t0071g0011	1	360	0.0028	29	c.-17 others(40): Show c.-1771_-1770insAATATATATTATATATATATATATATATT		DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding					1031		chr1	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	396	0.0025	29	c.132 others(46): Show c.132-2675_132-2647dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
DRC7_chr16_57689806_57736805	57726876	G G	GCCTTAAT others(22): Show GCCTTAATTTTCTCACTCTATAAAAATACA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18940.hp2 NA18940.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0001 a0015c0039t0001	a0015c0039t0001g0160 a0015c0039t0001g0160	1	388	0.0026	29	c.201 others(38): Show c.2019_2020insCCTTAATTTTCTCACTCTATAAAAATACA	p.Ala others(5): Show p.Ala674fs	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	15/19	2235/3387	2020/2625	674/874			chr16	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(22): Show TATATATATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG01070.hp2 others(14): Show HG00280.hp2 HG00423.hp1 HG01070.hp2 HG01928.hp1 HG02027.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02615.hp2 HG02970.hp1 HG03516.hp1 HG04204.hp1 NA18747.hp2 NA18906.hp2 NA18969.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0021 others(1): Show a0001c0001 a0001c0003 a0001c0021 a0002c0004	a0001c0001t0002 a0001c0001t0005 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0003 a0001c0021t0001 a0002c0004t0004	a0001c0001t0002g0050 a0001c0001t0002g0089 a0001c0001t0005g0304 others(14): Show a0001c0001t0002g0050 a0001c0001t0002g0089 a0001c0001t0005g0304 a0001c0003t0003g0031 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0064 a0001c0003t0003g0066 a0001c0003t0003g0070 a0001c0003t0003g0092 a0001c0003t0003g0100 a0001c0003t0003g0118 a0001c0003t0003g0170 a0001c0003t0003g0221 a0001c0003t0003g0240 a0001c0021t0001g0250 a0002c0004t0004g0016	17	322	0.0528	29	c.342 others(46): Show c.3420-522_3420-521insGGCGCATATATATATATATATATATATA T		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117687426	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG02135.hp1 others(2): Show HG00673.hp1 HG01175.hp1 HG02135.hp1 HG02135.hp2 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0027 a0002c0006 others(1): Show a0001c0008 a0001c0027 a0002c0006 a0002c0034	a0001c0008t0001 a0001c0027t0001 a0002c0006t0001 others(1): Show a0001c0008t0001 a0001c0027t0001 a0002c0006t0001 a0002c0034t0001	a0001c0008t0001g0137 a0001c0027t0001g0122 a0002c0006t0001g0164 others(2): Show a0001c0008t0001g0137 a0001c0027t0001g0122 a0002c0006t0001g0164 a0002c0006t0001g0187 a0002c0034t0001g0125	5	194	0.0258	29	c.511 others(48): Show c.511+89364_511+89365insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32						chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117694057	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0077 a0002c0003t0004g0077	1	194	0.0052	29	c.511 others(48): Show c.511+82733_511+82734insTATATATATATATATATATATATATA TAT		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32						chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117780199	G G	GAGAGAGA others(22): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGGAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0023 a0001c0005t0004g0023	1	194	0.0052	29	c.364 others(44): Show c.364+293_364+294insTTCCTTTCTTTCTTTCTTTCTCTCTCTCT		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32						chr11	TogoVar
DSP_chr6_7536671_7591714	7554082	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0232 a0001c0015t0002g0232	1	396	0.0025	29	c.171 others(46): Show c.171-1636_171-1635insCACACACACACACACACACACACACACA C		DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23						chr6	TogoVar
DSP_chr6_7536671_7591714	7554126	C C	CACACACA others(22): Show CACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0274 a0001c0014t0001g0274	1	396	0.0025	29	c.171 others(46): Show c.171-1592_171-1591insACACACACACACACACACACACACACAC A		DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23						chr6	TogoVar
DST_chr6_56452996_56959830	56593516	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0061 a0003c0004t0001g0061	1	84	0.0119	29	c.127 others(48): Show c.12726+146_12726+147insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	48/103						chr6	TogoVar
DTD1_chr20_18583054_18771644	18708207	T T	TAAATATA others(22): Show TAAATATATATTACATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	398	0.0025	29	c.478 others(48): Show c.478-35893_478-35892insAAATATATATTACATATATATTATAT ATA		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5						chr20	TogoVar
DTNA_chr18_34705298_34896844	34769725	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03927.hp2 NA21309.hp2 HG03540.hp2 HG03927.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0022g0013 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0022g0013	3	112	0.0268	29	c.148 others(46): Show c.148+3699_148+3700insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNB_chr2_25372243_25678577	25550688	T T	TTTTTTTT others(22): Show TTTTTTTTTGAGATGGAGTCTTGCTCTGTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG06807.hp2 NA19043.hp1 HG02717.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0003g0168 a0001c0002t0001g0019 a0001c0001t0001g0018 a0001c0001t0003g0168 a0001c0002t0001g0019	3	168	0.0179	29	c.877 others(48): Show c.877-19092_877-19091insGACAGAGCAAGACTCCATCTCAAAAA AAA		DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	8/20						chr2	TogoVar
DTX2_chr7_76456709_76510991	76457189	T T	TTTTGTGA others(22): Show TTTTGTGAGCTTTGCTCAACACCATCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0210 a0008c0014t0001g0210	1	280	0.0036	29	c.-49 others(40): Show c.-4902_-4901insTTTGTGAGCTTTGCTCAACACCATCCCCA		DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding					4519		chr7	TogoVar

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