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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CTSS_chr1_150725188_150770778	150744604	G G	GTATACAT others(31): Show GTATACATAATATATTATATATTATATATGTATATTATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	344	0.0029	38	c.896 others(55): Show c.896+3172_896+3173insTATAATATACATATATAATATATAATAT ATTATGTATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTXN1_chr19_7919491_7931135	7926622	T T	TTCCTGTC others(31): Show TTCCTGTCACAATAATCCCTACACACCTGACTCTTCCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	38	c.-67 others(47): Show c.-677_-676insTCGGAAGAGTCAGGTGTGTAGGGATTATTGTGACAG GA	CTXN1	ENSG00000178531.6	transcript	ENST00000318978.6	protein_coding		488		chr19	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCACAC others(31): Show GCGCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	338	0.0030	38	c.-16 others(57): Show c.-161-4742_-161-4741insGCACACACACACACACACACACACAC ACACACACACAC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUL4A_chr13_113204613_113272108	113260203	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02129.hp2 NA20752.hp2 HG00609.hp1 HG02129.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0250 a0002c0002t0001g0074 a0002c0002t0001g0086 a0001c0001t0001g0250 a0002c0002t0001g0074 a0002c0002t0001g0086	3	396	0.0076	38	c.203 others(55): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUX2_chr12_111029165_111355554	111257366	T T	TCCTCCCA others(31): Show TCCTCCCACTTCTTCCTCCCCCTCCCACTTCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	100	0.0100	38	c.223 others(55): Show c.223-6293_223-6256dupACTTCTTCCTCCCCCTCCCACTTCTTCC TCCCCCTCCC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111325791	G G	GTGTTGTG others(31): Show GTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02486.hp1 others(10): Show HG01891.hp1 HG02109.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG03209.hp2 HG06807.hp2 NA19030.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0008 others(3): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0001c0022 a0002c0006	a0001c0001t0002 a0001c0004t0004 a0001c0004t0005 others(5): Show a0001c0001t0002 a0001c0004t0004 a0001c0004t0005 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0022t0005 a0002c0006t0001	a0001c0001t0002g0012 a0001c0001t0002g0085 a0001c0001t0002g0086 others(10): Show a0001c0001t0002g0012 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0004t0004g0041 a0001c0004t0005g0007 a0001c0008t0001g0003 a0001c0008t0002g0022 a0001c0009t0001g0031 a0001c0009t0001g0035 a0001c0022t0005g0034 a0002c0006t0001g0053 a0002c0006t0001g0084 a0002c0006t0001g0089	13	100	0.1300	38	c.292 others(57): Show c.2926+3214_2926+3215insTGTGGTGGGGGAGGGGTGGGTTTTGT TTATAGTGTTGT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111325893	G G	GTGTTGGG others(31): Show GTGTTGGGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG03579.hp2 HG02976.hp1 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0002g0016 a0001c0001t0002g0062 a0001c0007t0001g0021 a0001c0001t0002g0016 a0001c0001t0002g0062 a0001c0007t0001g0021	3	100	0.0300	38	c.292 others(57): Show c.2926+3316_2926+3317insTGGGGTGGGGGAGGGGTTGGTTTTGT TTATAGTGTTGT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111328972	T T	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20905.hp1 HG02615.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0057 a0001c0009t0001g0031 a0001c0003t0001g0057 a0001c0009t0001g0031	2	100	0.0200	38	c.292 others(57): Show c.2927-5466_2927-5465insTCTCTCTCTCTCTCTCCCCCTCTCTC CCTCTCTCCCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWC27_chr5_64763930_65023750	64799602	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0053 a0002c0004t0003g0053	1	260	0.0039	38	c.670 others(53): Show c.670-646_670-645insTATATATATATATATATATATATATATATA TATATATG	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13			chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107402871	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 NA19030.hp2 HG01168.hp2 HG01169.hp1 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0329 a0004c0004t0002g0330 a0004c0004t0002g0340 a0004c0004t0002g0329 a0004c0004t0002g0330 a0004c0004t0002g0340	3	392	0.0077	38	c.161 others(57): Show c.1618-9977_1618-9976insTATATATATATATATATATATATATA TATATATATATA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(31): Show GTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18944.hp2 NA19082.hp2 HG02451.hp2 NA18944.hp2 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0226 a0003c0003t0002g0044 a0003c0003t0002g0286 a0001c0001t0002g0226 a0003c0003t0002g0044 a0003c0003t0002g0286	3	392	0.0077	38	c.161 others(57): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATATATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(31): Show GTGTGTATGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0035 a0005c0005t0002g0035	1	392	0.0026	38	c.161 others(57): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATACATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWH43_chr4_48981275_49067079	49039306	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	296	0.0034	38	c.180 others(57): Show c.1803+1153_1803+1154insTATATATATATATATATATATATATA TATATATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CWH43_chr4_48981275_49067079	49039320	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(17): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00639.hp2 HG01070.hp2 HG01109.hp2 HG01255.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG02129.hp2 HG02132.hp2 HG02300.hp1 HG02523.hp1 HG02886.hp2 HG06807.hp2 NA18943.hp1 NA19001.hp1 NA19056.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002	a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 others(17): Show a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0098 a0002c0002t0001g0101 a0002c0002t0001g0106 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0143 a0003c0003t0001g0029 a0003c0003t0001g0035 a0003c0003t0001g0046 a0003c0003t0001g0123 a0003c0003t0001g0159 a0003c0003t0002g0153	20	296	0.0676	38	c.180 others(57): Show c.1803+1153_1803+1154insTATATATATATATATATATATACTGA TATATATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CXXC4_chr4_104463308_104499894	104499124	A A	ACCCGGTC others(31): Show ACCCGGTCTCCAACCATCTCTGAGTCCATACTAGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0044 a0001c0001t0019g0044	1	332	0.0030	38	c.-46 others(49): Show c.-4682_-4681insGCATGCTAGTATGGACTCAGAGATGGTTGGAGAC CGGG	CXXC4	ENSG00000168772.12	transcript	ENST00000394767.3	protein_coding		4231		chr4	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(31): Show GTGTGTGTGTGCGCGCTGCAGCCTGCGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	38	c.-39 others(49): Show c.-3992_-3991insTGTGCGCGCGCGCGCAGGCTGCAGCGCGCACACA CACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGCGCGCGCGCAGCTGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	73	0.0137	38	c.-39 others(49): Show c.-3992_-3991insTGTGCGCGCGCAGCTGCGCGCGCGCACACACACA CACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812266	T T	TGTGTATA others(31): Show TGTGTATATATGTGTGTGTATACATATATGTGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	264	0.0038	38	c.19 others(49): Show c.1940_*1941insGTATATACACATATATGTATACACACACATATAT ACAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1839		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812266	T T	TGTGTATA others(31): Show TGTGTATATATGTGTGTGTATACATATATGTGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02273.hp2 HG01109.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0005g0003 a0001c0001t0001g0003 a0001c0001t0005g0003	2	272	0.0074	38	c.19 others(49): Show c.1958_*1959insGTGTATATATGTGTGTGTATACATATATGTGTAT ATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1856		chrX	TogoVar
CYFIP1_chr15_22862052_22985368	22875885	C C	CATACATA others(31): Show CATACATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp1 NA18940.hp2 others(1): Show HG03942.hp2 HG04115.hp1 NA18940.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0017 a0001c0002t0005 a0001c0005t0017 a0001c0001t0017 a0001c0002t0005 a0001c0005t0017	a0001c0001t0017g0295 a0001c0002t0005g0024 a0001c0002t0005g0051 others(1): Show a0001c0001t0017g0295 a0001c0002t0005g0024 a0001c0002t0005g0051 a0001c0005t0017g0142	4	342	0.0117	38	c.304 others(55): Show c.3043-615_3043-614insATATATATATATATATATATATATATAT ATGTATGTAT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	26/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22976574	A A	ATACATAC others(31): Show ATACATACAAAAAGATATCACATACAAAAAGATATTTTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01071.hp1 HG01106.hp1 others(5): Show HG00733.hp1 HG01071.hp1 HG01106.hp1 HG01169.hp1 HG01515.hp2 HG01517.hp1 HG01993.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0002t0004 a0001c0006t0004 others(1): Show a0001c0001t0001 a0001c0002t0004 a0001c0006t0004 a0002c0008t0019	a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0002t0004g0004 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0002t0004g0004 a0001c0006t0004g0006 a0001c0006t0004g0042 a0001c0006t0004g0043 a0002c0008t0019g0005 a0002c0008t0019g0007	8	342	0.0234	38	c.-7+ others(53): Show c.-7+3712_-7+3713insCAAAATATCTTTTTGTATGTGATATCTTTT TGTATGTA	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYLC1_chrX_83856146_83891698	83878466	T T	TATATAAA others(31): Show TATATAAAATTATATATAAATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	208	0.0048	38	c.192 others(57): Show c.1923+3840_1923+3841insAAATTATATATAAATATATATAAATA TATATAAATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC2_chr9_102990333_103023488	103013322	T T	TATATATA others(31): Show TATATATATTTATATATTATATAAATATATATTTATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0247 a0001c0001t0067g0247	1	448	0.0022	38	c.81 others(57): Show c.816+1236_*816+1237insTATATTATATAAATATATATTTATAT AATATATATTTA	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP27A1_chr2_218777147_218820293	218780459	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	298	0.0034	38	c.-17 others(49): Show c.-1724_-1723insATATATATATATATATATATATATATATATATAT ATAT	CYP27A1	ENSG00000135929.9	transcript	ENST00000258415.9	protein_coding		1687		chr2	TogoVar
CYP2A7_chr19_40870439_40887231	40880798	G G	GGAGAGAG others(31): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0194 a0003c0002t0004g0194	1	398	0.0025	38	c.344 others(53): Show c.344-208_344-171dupTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp1 others(28): Show HG00140.hp1 HG00408.hp1 HG00544.hp1 HG00609.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01433.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02257.hp1 HG02622.hp1 HG02738.hp1 HG03486.hp2 HG03688.hp2 HG04199.hp1 HG04228.hp1 NA18941.hp1 NA18945.hp2 NA18951.hp2 NA18956.hp1 NA18960.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA19003.hp1 NA19066.hp1 NA19070.hp1 NA19086.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0002c0002t0002	a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0043 others(16): Show a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0141 a0001c0001t0001g0165 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0002g0006 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0005g0208 a0001c0001t0012g0153 a0001c0001t0020g0196 a0001c0001t0021g0027 a0002c0002t0002g0006	31	382	0.0812	38	c.491 others(53): Show c.491-119_491-118insATATATATATATATATATATATATATATAT ATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP2U1_chr4_107926549_107958461	107944842	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19003.hp2 NA19079.hp2 NA18979.hp2 NA19003.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0206 a0001c0001t0001g0048 a0001c0001t0001g0206	3	382	0.0079	38	c.491 others(53): Show c.491-119_491-118insATATATATATATATATATATATATATATGT ATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP2W1_chr7_978181_994640	990202	A A	AGTGGCGC others(31): Show AGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0002 a0011c0014t0001g0002	1	408	0.0025	38	c.13 others(49): Show c.1380_*1381insGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAG TGTG	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		563		chr7	TogoVar
CYP4X1_chr1_47018669_47055751	47036370	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	350	0.0029	38	c.775 others(53): Show c.775+215_775+216insTATATATATATATATATATATATATATATA TATATATA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp2 HG02257.hp2 others(8): Show HG01167.hp1 HG01496.hp2 HG02257.hp2 HG02723.hp1 HG02922.hp1 HG04204.hp1 NA18962.hp2 NA18969.hp2 NA18986.hp1 NA19006.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0068 others(8): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0087 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0006g0077 a0001c0001t0025g0259 a0001c0003t0001g0192 a0001c0004t0001g0118	11	288	0.0382	38	c.-13 others(59): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02055.hp1 HG04199.hp2 HG01934.hp2 HG02055.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0241 a0001c0001t0002g0137 a0001c0001t0002g0220 a0001c0001t0001g0241 a0001c0001t0002g0137 a0001c0001t0002g0220	3	288	0.0104	38	c.-13 others(59): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATATATAAA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYTH2_chr19_48464369_48487314	48478735	G G	GCAGGGGG others(31): Show GCAGGGGGCCTGGACGCCTGGGTCTGACGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02809.hp2 HG03579.hp2 HG01433.hp2 HG02809.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0032 a0001c0001t0016g0034 a0001c0001t0016g0043 a0001c0001t0016g0032 a0001c0001t0016g0034 a0001c0001t0016g0043	3	366	0.0082	38	c.111 others(55): Show c.1112+144_1112+145insAGGGGGCCTGGACGCCTGGGTCTGACGG AGGAGGGGCC	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH2_chr19_48464369_48487314	48478773	A A	AGGGGGCC others(31): Show AGGGGGCCTGGACGCCTGGGTCTGACGGAGGAGGGGCCG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0088 a0001c0002t0004g0088	1	366	0.0027	38	c.111 others(55): Show c.1112+185_1112+186insGCCTGGACGCCTGGGTCTGACGGAGGAG GGGCCGGGGG	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAB1_chr1_56989778_57429060	57426859	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 NA20905.hp2 HG01175.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0035 a0004c0006t0001g0032 a0001c0001t0001g0035 a0004c0006t0001g0032	2	138	0.0145	38	c.-30 others(49): Show c.-3067_-3066insATATATATATATATATATATATATATATATATAT ATAT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding		2800		chr1	TogoVar
DACH1_chr13_71432966_71872204	71529183	G G	GTTTTTTT others(31): Show GTTTTTTTTTTGTTTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	102	0.0098	38	c.157 others(59): Show c.1570+27840_1570+27841insAAAAAAAAAAAAAAAAAAAAAAAC AAACAAAAAAAAAA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71529183	G G	GTTTTTTT others(31): Show GTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	102	0.0098	38	c.157 others(59): Show c.1570+27840_1570+27841insAAAAAAAAAAAAAAAAAAAAAAAA AAACAAAAAAAAAA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86254773	A A	AATATATA others(31): Show AATATATATATGTATATATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	166	0.0060	38	c.488 others(59): Show c.488+105668_488+105669insTATATATGTATATATATATATATA TATGTATATATATA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86254799	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	166	0.0060	38	c.488 others(59): Show c.488+105700_488+105701insTATATATATATATATATATATATA TATACATATATATA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAGLB_chr7_6404129_6452954	6430250	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19079.hp2 NA18951.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0125 a0001c0002t0002g0096 a0001c0002t0002g0125	2	380	0.0053	38	c.929 others(53): Show c.929+229_929+230insATATATATATATATATATATATATATATAT ATATATAT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	6/14			chr7	TogoVar
DAPK1_chr9_87492867_87713634	87513306	C C	CACAACCA others(31): Show CACAACCAACAGTATTGGAAAGCCTAAATAGGAAGTGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0065 a0001c0005t0001g0065	1	236	0.0042	38	c.62+ others(55): Show c.62+14169_62+14206dupCAACCAACAGTATTGGAAAGCCTAAATA GGAAGTGAGA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571473	A A	ACACACAC others(31): Show ACACACACACACACCCCAACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0187 a0002c0003t0001g0187	1	236	0.0042	38	c.63- others(55): Show c.63-33480_63-33479insACACACACACACCCCAACACACACACAC ACACACCCCC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571497	C C	CCCAACAC others(31): Show CCCAACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG03225.hp2 HG02572.hp2 HG02922.hp1 HG03225.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0010 a0002c0003 a0003c0007 a0001c0010 a0002c0003 a0003c0007	a0001c0010t0001 a0002c0003t0002 a0003c0007t0002 a0001c0010t0001 a0002c0003t0002 a0003c0007t0002	a0001c0010t0001g0047 a0002c0003t0002g0027 a0003c0007t0002g0168 a0001c0010t0001g0047 a0002c0003t0002g0027 a0003c0007t0002g0168	3	236	0.0127	38	c.63- others(55): Show c.63-33457_63-33456insCCAACACACACACACACACACACACACA CACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK2_chr15_63902036_64051485	64036327	A A	ATATATAT others(31): Show ATATATATGTATATATATATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	214	0.0047	38	c.92+ others(53): Show c.92+3842_92+3843insCATATATATATATATATGTATATATATATA CATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAZAP2_chr12_51233826_51248933	51248434	A A	ACACACAC others(31): Show ACACACACACACACACACTCTCACTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	438	0.0023	38	c.59 others(49): Show c.5976_*5977insCACACACACACACACACTCTCACTCTCTCTCTCT CTCT	DAZAP2	ENSG00000183283.16	transcript	ENST00000412716.8	protein_coding		4502		chr12	TogoVar
DCAF10_chr9_37795797_37872664	37808610	A A	AATATAAT others(31): Show AATATAATATATTTATATTATATAATATAAAAATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG02922.hp1 others(4): Show HG02451.hp2 HG02818.hp2 HG02922.hp1 HG03453.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0008 a0003c0007t0008 a0001c0001t0008 a0003c0007t0008	a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0043 others(4): Show a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0008g0046 a0003c0007t0008g0047	7	356	0.0197	38	c.539 others(55): Show c.539+7222_539+7223insTATATAATATAAAAATATATTATATAAT ATATTTATAT	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF5_chr14_69045881_69158119	69105914	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	244	0.0041	38	c.665 others(57): Show c.665+10451_665+10452insATATATATATATATATATATATATAT ATATATATATAT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF7_chr17_63545477_63599266	63559371	A A	ATGTATAT others(31): Show ATGTATATATATATACATATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	262	0.0038	38	c.138 others(55): Show c.138+8557_138+8558insGTATATATATATACATATATATATACGT ATATATATGT	DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(31): Show TATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 NA18906.hp1 HG01891.hp2 HG02717.hp1 NA18906.hp1	a0012 a0014 a0012 a0014	a0012c0012 a0014c0014 a0012c0012 a0014c0014	a0012c0012t0001 a0014c0014t0001 a0014c0014t0003 a0012c0012t0001 a0014c0014t0001 a0014c0014t0003	a0012c0012t0001g0102 a0014c0014t0001g0134 a0014c0014t0003g0069 a0012c0012t0001g0102 a0014c0014t0001g0134 a0014c0014t0003g0069	3	262	0.0115	38	c.-14 others(59): Show c.-142-11914_-142-11913insTATATATATATATATATATATATA TACACACACACACA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0224 a0005c0005t0001g0224	1	262	0.0038	38	c.-14 others(59): Show c.-142-11914_-142-11913insTATATATATATATATATATATATA TATATACACACACA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCBLD2_chr3_98790941_98906695	98870737	A A	AAAAGAAA others(31): Show AAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0167 a0003c0006t0007g0167	1	330	0.0030	38	c.433 others(57): Show c.433+10802_433+10803insCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar

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