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
DPP9_chr19_4670227_4728842	4672158	AATATATA others(23): Show AATATATATTCATATATTCATATATACTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	314	0.0032	-30	c.43 others(41): Show c.4376_*4405delATAAGTATATATGAATATATGAATATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3068		chr19	TogoVar
DPP9_chr19_4670227_4728842	4672267	ATATATAT others(23): Show ATATATATTAATATATTCATATATATATACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02970.hp1 others(6): Show HG01891.hp2 HG02257.hp1 HG02970.hp1 HG03041.hp2 HG03225.hp2 NA18967.hp1 NA18986.hp2 NA19060.hp2 NA19070.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0005 a0007c0011 a0001c0001 a0002c0005 a0007c0011	a0001c0001t0002 a0002c0005t0006 a0007c0011t0002 a0001c0001t0002 a0002c0005t0006 a0007c0011t0002	a0001c0001t0002g0028 a0001c0001t0002g0059 a0001c0001t0002g0120 others(6): Show a0001c0001t0002g0028 a0001c0001t0002g0059 a0001c0001t0002g0120 a0001c0001t0002g0131 a0001c0001t0002g0239 a0002c0005t0006g0021 a0002c0005t0006g0022 a0002c0005t0006g0023 a0007c0011t0002g0196	9	314	0.0287	-30	c.42 others(41): Show c.4267_*4296delAGTATATATATATGAATATATTAATATATA	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2959		chr19	TogoVar
DPY19L2_chr12_63553913_63673493	63556316	ATGTATAC others(23): Show ATGTATACATATGTATATACATATATACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02818.hp2 HG02970.hp1 others(3): Show HG00673.hp1 HG02818.hp2 HG02970.hp1 HG03471.hp2 HG03516.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0239 a0002c0003t0001g0101 a0002c0003t0001g0107 others(3): Show a0001c0001t0001g0239 a0002c0003t0001g0101 a0002c0003t0001g0107 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126	6	362	0.0166	-30	c.41 others(41): Show c.4166_*4195delCGTGTATATATGTATATACATATGTATACA	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding		2596		chr12	TogoVar
DPYD_chr1_97072743_97926034	97134014	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0001 a0011c0009t0001	a0011c0009t0001g0051 a0011c0009t0001g0051	1	52	0.0192	-30	c.262 others(51): Show c.2623-35412_2623-35383delATATATATATATATATATATATAT ATATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97195634	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02886.hp1 HG03710.hp2 others(3): Show HG02004.hp2 HG02886.hp1 HG03710.hp2 NA18522.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0004c0004 a0005c0006 others(1): Show a0001c0001 a0004c0004 a0005c0006 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0004t0001 a0005c0006t0002 a0007c0008t0001	a0001c0001t0001g0033 a0001c0001t0002g0043 a0001c0001t0003g0037 others(3): Show a0001c0001t0001g0033 a0001c0001t0002g0043 a0001c0001t0003g0037 a0004c0004t0001g0002 a0005c0006t0002g0032 a0007c0008t0001g0040	6	52	0.1154	-30	c.244 others(49): Show c.2443-2416_2443-2387delTATATATATATATATATATATATATA TATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97206638	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02886.hp2 HG03098.hp2 others(2): Show HG00735.hp2 HG02886.hp2 HG03098.hp2 NA18522.hp2 NA20300.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0007 a0001c0001 a0002c0002 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0008c0007t0001	a0001c0001t0001g0046 a0001c0001t0002g0030 a0002c0002t0001g0011 others(2): Show a0001c0001t0001g0046 a0001c0001t0002g0030 a0002c0002t0001g0011 a0002c0002t0002g0010 a0008c0007t0001g0021	5	52	0.0962	-30	c.244 others(51): Show c.2443-13420_2443-13391delTATATATATATATATATATATATA TATATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97586465	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp2 HG02976.hp2 HG03225.hp2	a0006 a0009 a0006 a0009	a0006c0005 a0009c0013 a0006c0005 a0009c0013	a0006c0005t0001 a0009c0013t0004 a0006c0005t0001 a0009c0013t0004	a0006c0005t0001g0001 a0009c0013t0004g0020 a0006c0005t0001g0001 a0009c0013t0004g0020	2	52	0.0385	-30	c.112 others(49): Show c.1128+6723_1128+6752delATATATATATATATATATATATATAT ATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	10/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97724295	GGGGGGGG others(23): Show GGGGGGGGGGGGGGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0012 a0002c0010t0002g0012	1	52	0.0192	-30	c.322 others(47): Show c.322-2654_322-2625delACACACACACACACACACCCCCCCCCCC CC	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	4/22			chr1	TogoVar
DPYSL4_chr10_132181948_132210759	132187339	CGGCCCTG others(23): Show CGGCCCTGCCCGGCCCTGCCGGGCCCTGCCG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG01175.hp2 others(13): Show HG00280.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01952.hp1 HG02886.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0015 others(1): Show a0001c0002 a0001c0003 a0001c0015 a0004c0014	a0001c0002t0008 a0001c0003t0005 a0001c0015t0005 others(1): Show a0001c0002t0008 a0001c0003t0005 a0001c0015t0005 a0004c0014t0018	a0001c0002t0008g0208 a0001c0003t0005g0008 a0001c0003t0005g0062 others(7): Show a0001c0002t0008g0208 a0001c0003t0005g0008 a0001c0003t0005g0062 a0001c0003t0005g0204 a0001c0003t0005g0205 a0001c0003t0005g0206 a0001c0003t0005g0207 a0001c0003t0005g0210 a0001c0015t0005g0063 a0004c0014t0018g0008	16	418	0.0383	-30	c.39+ others(43): Show c.39+252_39+281delCTGCCGGGCCCTGCCGGGCCCTGCCCGGCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132187354	CTGCCGGG others(23): Show CTGCCGGGCCCTGCCGGGCCCTGCCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03239.hp2 HG03471.hp2 HG02965.hp2 HG03239.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0007 a0001c0001t0002 a0001c0003t0007	a0001c0001t0002g0187 a0001c0003t0007g0088 a0001c0003t0007g0089 a0001c0001t0002g0187 a0001c0003t0007g0088 a0001c0003t0007g0089	3	418	0.0072	-30	c.39+ others(43): Show c.39+257_39+286delGGGCCCTGCCGGGCCCTGCCCGGCCTTGCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132205955	GCAGCCAA others(23): Show GCAGCCAACATCCAGGGCGGGACAGAGGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02027.hp1 HG02040.hp2 others(35): Show HG00597.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp2 HG02647.hp2 HG02970.hp2 HG03834.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18972.hp2 NA18977.hp1 NA18997.hp1 NA18999.hp2 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0031 a0001c0002t0001 a0001c0002t0030 others(2): Show a0001c0001t0031 a0001c0002t0001 a0001c0002t0030 a0001c0007t0001 a0001c0007t0014	a0001c0001t0031g0197 a0001c0002t0001g0002 a0001c0002t0001g0007 others(18): Show a0001c0001t0031g0197 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0134 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0030g0191 a0001c0007t0001g0030 a0001c0007t0001g0138 a0001c0007t0014g0126	38	418	0.0909	-30	c.10 others(41): Show c.1026_*1055delCAGCCAACATCCAGGGCGGGACAGAGGCCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		197		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26932121	AAGAGAAA others(23): Show AAGAGAAAGAAAGAAAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02970.hp2 HG06807.hp2 HG02922.hp1 HG02970.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0002 a0001c0004t0003 a0001c0007t0040 a0001c0002t0002 a0001c0004t0003 a0001c0007t0040	a0001c0002t0002g0035 a0001c0004t0003g0064 a0001c0007t0040g0169 a0001c0002t0002g0035 a0001c0004t0003g0064 a0001c0007t0040g0169	3	232	0.0129	-30	c.714 others(45): Show c.714+439_714+468delGAGAAAGAAAGAAAGAGAAAGAAAGAAAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26932123	GAGAAAGA others(23): Show GAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0015 a0001c0005t0003g0015	1	232	0.0043	-30	c.714 others(45): Show c.714+455_714+484delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYS_chr8_104374431_104472055	104377915	ATCGTTAG others(23): Show ATCGTTAGTAAATAGAGGAGCGAAGTTTAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0254 a0003c0007t0001g0254	1	380	0.0026	-30	c.19 others(41): Show c.1913_*1942delCCTAAACTTCGCTCCTCTATTTACTAACGA	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding		1515		chr8	TogoVar
DRC7_chr16_57689806_57736805	57725124	TCACCTTC others(23): Show TCACCTTCTGCCTAGTGAAAAGGGTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp1 HG02258.hp2 others(10): Show HG00609.hp2 HG02083.hp1 HG02258.hp2 HG02572.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp1 NA18960.hp1 NA18970.hp1 NA18985.hp2	a0003 a0004 a0017 others(2): Show a0003 a0004 a0017 a0020 a0024	a0003c0003 a0004c0005 a0017c0024 others(2): Show a0003c0003 a0004c0005 a0017c0024 a0020c0027 a0024c0032	a0003c0003t0001 a0003c0003t0006 a0004c0005t0001 others(3): Show a0003c0003t0001 a0003c0003t0006 a0004c0005t0001 a0017c0024t0007 a0020c0027t0001 a0024c0032t0004	a0003c0003t0001g0085 a0003c0003t0001g0145 a0003c0003t0006g0321 others(9): Show a0003c0003t0001g0085 a0003c0003t0001g0145 a0003c0003t0006g0321 a0004c0005t0001g0017 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0246 a0017c0024t0007g0323 a0020c0027t0001g0106 a0024c0032t0004g0130	13	388	0.0335	-30	c.175 others(47): Show c.1758+319_1758+348delCCACCTTCTGCCTAGTGAAAAGGGTCCT TT	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRD3_chr3_114122580_114184052	114156715	GTCTTTCT others(23): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01928.hp1 HG01934.hp1 others(21): Show HG01256.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG02165.hp2 HG02647.hp2 HG03041.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03834.hp2 HG04115.hp2 NA18939.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18984.hp1 NA19011.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0014 a0002c0001 others(2): Show a0001c0002 a0001c0014 a0002c0001 a0003c0005 a0005c0012	a0001c0002t0001 a0001c0002t0003 a0001c0014t0003 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0014t0003 a0002c0001t0001 a0002c0001t0002 a0003c0005t0003 a0005c0012t0001	a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0262 others(21): Show a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0262 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0304 a0001c0002t0003g0060 a0001c0002t0003g0263 a0001c0014t0003g0216 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0107 a0002c0001t0001g0111 a0002c0001t0001g0114 a0002c0001t0001g0181 a0002c0001t0001g0183 a0002c0001t0002g0119 a0002c0001t0002g0146 a0002c0001t0002g0147 a0002c0001t0002g0165 a0003c0005t0003g0235 a0003c0005t0003g0239 a0005c0012t0001g0186	24	360	0.0667	-30	c.383 others(47): Show c.383+3010_383+3039delAAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DSC3_chr18_30984365_31047742	31032567	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0155 a0001c0001t0007g0155	1	392	0.0026	-30	c.70- others(43): Show c.70-321_70-292delGCACACGCACACACACACACACACACACAC	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117486234	CGGATGGG others(23): Show CGGATGGGAAAGTGGCGGATGGGAAAGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01074.hp2 others(22): Show HG00642.hp1 HG00738.hp1 HG01074.hp2 HG01099.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG02055.hp2 HG02622.hp1 HG02738.hp1 HG02976.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA18989.hp2 NA19240.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0011 a0001c0016 a0001c0022 others(14): Show a0001c0011 a0001c0016 a0001c0022 a0001c0024 a0001c0030 a0001c0049 a0001c0051 a0002c0001 a0002c0002 a0002c0006 a0002c0033 a0002c0062 a0002c0064 a0002c0066 a0002c0069 a0005c0031 a0006c0065	a0001c0011t0002 a0001c0016t0001 a0001c0022t0001 others(18): Show a0001c0011t0002 a0001c0016t0001 a0001c0022t0001 a0001c0024t0003 a0001c0030t0003 a0001c0030t0004 a0001c0049t0004 a0001c0051t0002 a0002c0001t0002 a0002c0002t0001 a0002c0006t0001 a0002c0006t0002 a0002c0006t0004 a0002c0033t0002 a0002c0062t0002 a0002c0064t0001 a0002c0066t0002 a0002c0069t0002 a0005c0031t0001 a0005c0031t0002 a0006c0065t0001	a0001c0011t0002g0026 a0001c0016t0001g0044 a0001c0016t0001g0078 others(22): Show a0001c0011t0002g0026 a0001c0016t0001g0044 a0001c0016t0001g0078 a0001c0022t0001g0135 a0001c0024t0003g0073 a0001c0030t0003g0183 a0001c0030t0004g0133 a0001c0049t0004g0049 a0001c0051t0002g0010 a0002c0001t0002g0175 a0002c0002t0001g0056 a0002c0006t0001g0164 a0002c0006t0001g0187 a0002c0006t0002g0088 a0002c0006t0004g0041 a0002c0006t0004g0149 a0002c0006t0004g0150 a0002c0033t0002g0104 a0002c0062t0002g0117 a0002c0064t0001g0165 a0002c0066t0002g0070 a0002c0069t0002g0189 a0005c0031t0001g0101 a0005c0031t0002g0045 a0006c0065t0001g0109	25	194	0.1289	-30	c.236 others(49): Show c.2360-4102_2360-4073delACCACTTTCCCATCCGCCACTTTCCC ATCC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117486279	CGGATGTG others(23): Show CGGATGTGAAAATGGCAGATGTGAAAGTAGT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0066 a0002c0004t0004g0066	1	194	0.0052	-30	c.236 others(49): Show c.2360-4147_2360-4118delACTACTTTCACATCTGCCATTTTCAC ATCC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32			chr11	TogoVar
DTD1_chr20_18583054_18771644	18708241	TATAATAT others(23): Show TATAATATATATTATATATATATTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00639.hp2 others(74): Show HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02074.hp2 HG02148.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp2 NA18953.hp2 NA18954.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp2 NA18992.hp1 NA19000.hp1 NA19057.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19080.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0027	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0221 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0392 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0265 a0001c0001t0004g0289 a0001c0001t0004g0396 a0001c0001t0004g0397 a0001c0001t0006g0007 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0224 a0001c0001t0006g0226 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0235 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0249 a0001c0001t0006g0254 a0001c0001t0006g0255 a0001c0001t0027g0216	77	398	0.1935	-30	c.478 others(49): Show c.478-35858_478-35829delATAATATATATTATATATATATTTTA TATA	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5			chr20	TogoVar
DTHD1_chr4_36276616_36352511	36332187	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(56): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp1 HG00673.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01255.hp1 HG01256.hp2 HG01517.hp2 HG01884.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18959.hp2 NA18965.hp2 NA18993.hp1 NA19005.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0011 a0013 a0016 a0025	a0001c0002 a0001c0008 a0002c0003 others(15): Show a0001c0002 a0001c0008 a0002c0003 a0002c0017 a0003c0005 a0003c0011 a0003c0022 a0003c0023 a0003c0042 a0004c0007 a0004c0009 a0004c0015 a0004c0035 a0011c0018 a0011c0029 a0013c0021 a0016c0036 a0025c0026	a0001c0002t0014 a0001c0008t0021 a0002c0003t0008 others(26): Show a0001c0002t0014 a0001c0008t0021 a0002c0003t0008 a0002c0003t0012 a0002c0017t0003 a0003c0005t0001 a0003c0005t0003 a0003c0005t0005 a0003c0005t0011 a0003c0011t0009 a0003c0011t0010 a0003c0022t0003 a0003c0023t0003 a0003c0042t0003 a0004c0007t0001 a0004c0007t0002 a0004c0007t0003 a0004c0007t0005 a0004c0007t0006 a0004c0007t0008 a0004c0009t0009 a0004c0009t0017 a0004c0015t0010 a0004c0035t0003 a0011c0018t0011 a0011c0029t0010 a0013c0021t0003 a0016c0036t0002 a0025c0026t0009	a0001c0002t0014g0123 a0001c0002t0014g0247 a0001c0008t0021g0249 others(50): Show a0001c0002t0014g0123 a0001c0002t0014g0247 a0001c0008t0021g0249 a0002c0003t0008g0105 a0002c0003t0012g0002 a0002c0003t0012g0090 a0002c0017t0003g0283 a0003c0005t0001g0010 a0003c0005t0001g0131 a0003c0005t0001g0146 a0003c0005t0001g0229 a0003c0005t0001g0245 a0003c0005t0001g0246 a0003c0005t0003g0079 a0003c0005t0005g0182 a0003c0005t0011g0034 a0003c0011t0009g0143 a0003c0011t0009g0213 a0003c0011t0010g0098 a0003c0011t0010g0099 a0003c0011t0010g0136 a0003c0022t0003g0075 a0003c0023t0003g0083 a0003c0023t0003g0086 a0003c0042t0003g0077 a0004c0007t0001g0012 a0004c0007t0001g0062 a0004c0007t0002g0027 a0004c0007t0002g0203 a0004c0007t0003g0286 a0004c0007t0005g0181 a0004c0007t0006g0151 a0004c0007t0006g0214 a0004c0007t0008g0094 a0004c0009t0009g0013 a0004c0009t0009g0150 a0004c0009t0009g0204 a0004c0009t0017g0140 a0004c0009t0017g0219 a0004c0009t0017g0227 a0004c0015t0010g0017 a0004c0015t0010g0264 a0004c0015t0010g0266 a0004c0015t0010g0273 a0004c0035t0003g0288 a0011c0018t0011g0074 a0011c0018t0011g0109 a0011c0018t0011g0118 a0011c0029t0010g0113 a0013c0021t0003g0115 a0013c0021t0003g0116 a0016c0036t0002g0155 a0025c0026t0009g0210	59	308	0.1916	-30	c.234 others(49): Show c.2341-6882_2341-6853delAATAAAATAAAATAAAATAAAATAAA ATAA	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
DTNB_chr2_25372243_25678577	25609657	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	168	0.0060	-30	c.363 others(47): Show c.363-2366_363-2337delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	4/20			chr2	TogoVar
DTWD2_chr5_118831074_118993547	118846920	GCACACAC others(23): Show GCACACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00741.hp1 others(21): Show HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01074.hp1 HG01243.hp2 HG01255.hp2 HG01891.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0016 others(6): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030	a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0012 others(20): Show a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0168 a0001c0001t0003g0180 a0001c0001t0013g0011 a0001c0001t0013g0142 a0001c0001t0013g0218 a0001c0001t0013g0219 a0001c0001t0016g0232 a0001c0001t0016g0233 a0001c0001t0018g0001 a0001c0001t0021g0010 a0001c0001t0024g0206 a0001c0001t0027g0009 a0001c0001t0029g0132 a0001c0001t0030g0225	24	242	0.0992	-30	c.726 others(47): Show c.726+1140_726+1169delTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	5/5			chr5	TogoVar
DTX2_chr7_76456709_76510991	76486846	GGCTGCTG others(23): Show GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0197	1	280	0.0036	-30	c.908 others(47): Show c.908+3711_908+3740delTGCTGCTGCTGCTGCTGCTGCTGCTGCT GC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTX3L_chr3_122559338_122580203	122562156	CTCTTTTC others(23): Show CTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	472	0.0021	-30	c.-22 others(41): Show c.-2270_-2241delTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	DTX3L	ENSG00000163840.10	transcript	ENST00000296161.9	protein_coding		2181		chr3	TogoVar
DUS4L_chr7_107558971_107583523	107578827	CCAAGACG others(23): Show CCAAGACGGGCAGATCACGAGGTCAGGAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	-30	c.12 others(41): Show c.1268_*1297delCAAGACGGGCAGATCACGAGGTCAGGAGAT	DUS4L	ENSG00000105865.11	transcript	ENST00000265720.8	protein_coding		305		chr7	TogoVar
DUSP10_chr1_221696424_221747089	221743320	CGCTTCTG others(23): Show CGCTTCTGGAACAGCCGCAGCTGGCGGAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	396	0.0025	-30	c.-14 others(41): Show c.-1413_-1384delTTTTCCGCCAGCTGCGGCTGTTCCAGAAGC	DUSP10	ENSG00000143507.18	transcript	ENST00000366899.4	protein_coding		1232		chr1	TogoVar
DUSP7_chr3_52043919_52061571	52045855	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01928.hp2 HG01934.hp1 others(14): Show HG00558.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG02071.hp2 HG02083.hp1 HG02523.hp1 NA18940.hp2 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA19000.hp2 NA19030.hp1 NA19054.hp2 NA19078.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0005t0003	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0065 others(3): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0065 a0001c0001t0003g0003 a0001c0001t0023g0066 a0001c0005t0003g0052	17	384	0.0443	-30	c.49 others(41): Show c.4930_*4959delCACACACACACACACACACACACACACACA	DUSP7	ENSG00000164086.10	transcript	ENST00000495880.2	protein_coding		3063		chr3	TogoVar
DUXB_chr16_75688893_75706461	75700878	TTAAATAT others(23): Show TTAAATATATATATTAGAAAACGATAATCAA	T T	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	422	0.0024	-30	c.25+ others(43): Show c.25+486_25+515delTTGATTATCGTTTTCTAATATATATATTTA	DUXB	ENSG00000282757.4	transcript	ENST00000633875.4	protein_coding	1/4			chr16	TogoVar
DYNAP_chr18_54586245_54604493	54600081	GAGATATA others(23): Show GAGATATATATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 NA18985.hp1 HG03704.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	358	0.0056	-30	c.19 others(41): Show c.1937_*1966delAGATATATATATATATATATATATATATAT	DYNAP	ENSG00000178690.4	transcript	ENST00000648945.2	protein_coding		589		chr18	TogoVar
DYNC2H1_chr11_103104426_103484863	103235805	GTCTTGAG others(23): Show GTCTTGAGAGTTTGTATTTAGTTATTCCTGA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0001 a0019c0024t0001	a0019c0024t0001g0218 a0019c0024t0001g0220 a0019c0024t0001g0218 a0019c0024t0001g0220	2	262	0.0076	-30	c.970 others(45): Show c.9709+23_9709+52delTCTTGAGAGTTTGTATTTAGTTATTCCTGA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	62/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNLT2B_chr3_196286219_196323240	196308931	CCATATCA others(23): Show CCATATCAGAGCAATTAAAAATCCCCCACAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	330	0.0030	-30	c.248 others(47): Show c.248-1949_248-1920delATGTGGGGGATTTTTAATTGCTCTGATA TG	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	2/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37451562	TACCGTCT others(23): Show TACCGTCTAGCGTGGGCGTGCAGTAGGCTCC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02257.hp2 HG02258.hp2 others(3): Show HG01358.hp1 HG02257.hp2 HG02258.hp2 HG02818.hp2 NA18978.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0055 a0001c0001t0129 others(3): Show a0001c0001t0025 a0001c0001t0055 a0001c0001t0129 a0001c0001t0138 a0001c0001t0142 a0001c0001t0143	a0001c0001t0025g0042 a0001c0001t0055g0269 a0001c0001t0129g0238 others(3): Show a0001c0001t0025g0042 a0001c0001t0055g0269 a0001c0001t0129g0238 a0001c0001t0138g0325 a0001c0001t0142g0326 a0001c0001t0143g0324	6	350	0.0171	-30	c.11- others(47): Show c.11-21029_11-21000delCGTCTAGCGTGGGCGTGCAGTAGGCTCC AC	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37495152	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0345 a0001c0001t0063g0345	1	350	0.0029	-30	c.107 others(47): Show c.1072-945_1072-916delTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
EBF1_chr5_158690920_159104916	158866833	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01928.hp2 HG02129.hp1 others(3): Show HG01433.hp2 HG01928.hp2 HG02129.hp1 HG02622.hp2 HG02723.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0011 a0001c0001t0086 a0001c0002t0005 others(3): Show a0001c0001t0011 a0001c0001t0086 a0001c0002t0005 a0001c0002t0007 a0001c0002t0060 a0002c0003t0046	a0001c0001t0011g0096 a0001c0001t0086g0154 a0001c0002t0005g0115 others(3): Show a0001c0001t0011g0096 a0001c0001t0086g0154 a0001c0002t0005g0115 a0001c0002t0007g0059 a0001c0002t0060g0053 a0002c0003t0046g0033	6	196	0.0306	-30	c.555 others(49): Show c.555-26753_555-26724delTATATATATATATATATATATATATA TATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
ECE1_chr1_21212250_21295463	21232686	TTTTGAGA others(23): Show TTTTGAGATGGAGTCTTGCTCTGTCACCCAG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0097 a0001c0001t0035g0097	1	304	0.0033	-30	c.167 others(47): Show c.1670+842_1670+871delCTGGGTGACAGAGCAAGACTCCATCTCA AA	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	14/18			chr1	TogoVar
ECHDC1_chr6_127283712_127348609	127309480	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp2 HG03041.hp1 HG02572.hp2 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0290 a0001c0001t0002g0297 a0001c0001t0002g0273 a0001c0001t0002g0290 a0001c0001t0002g0297	3	358	0.0084	-30	c.497 others(47): Show c.497+5306_497+5335delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
EDA_chrX_69611113_70044472	69612261	GTTTTATT others(23): Show GTTTTATTTTATTTTATTTTATTTTATTTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	226	0.0044	-30	c.-40 others(41): Show c.-4047_-4018delTTTTATTTTATTTTATTTTATTTTATTTTA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding		3851		chrX	TogoVar
EDIL3_chr5_83935554_84389880	84160744	TCTTTCCT others(23): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	158	0.0063	-30	c.355 others(49): Show c.355+19619_355+19648delGAAAGGAAAGGAAAGGAAAGGAAAGG AAAG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EEPD1_chr7_36148254_36306538	36271854	CTATTCTA others(23): Show CTATTCTATTCTATTCTATTCTATTCTATTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00423.hp2 others(38): Show HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG01069.hp1 HG01074.hp2 HG01243.hp2 HG01255.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG02080.hp2 HG02109.hp2 HG02273.hp1 HG02523.hp2 HG02630.hp1 HG02738.hp2 HG02886.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03704.hp2 HG03831.hp2 NA18947.hp1 NA18952.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp2 NA18983.hp1 NA18986.hp1 NA18995.hp2 NA19009.hp2 NA19057.hp2 NA19074.hp2 NA19090.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0003 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0039 a0001c0001t0051 a0001c0004t0012 a0001c0006t0007 a0001c0006t0020 a0002c0003t0060 a0002c0003t0061 a0003c0002t0017 a0003c0002t0021	a0001c0001t0001g0149 a0001c0001t0001g0256 a0001c0001t0001g0275 others(38): Show a0001c0001t0001g0149 a0001c0001t0001g0256 a0001c0001t0001g0275 a0001c0001t0002g0012 a0001c0001t0002g0083 a0001c0001t0002g0118 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0146 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0234 a0001c0001t0002g0263 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0309 a0001c0001t0004g0075 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0215 a0001c0001t0004g0223 a0001c0001t0004g0240 a0001c0001t0004g0248 a0001c0001t0005g0015 a0001c0001t0007g0016 a0001c0001t0007g0020 a0001c0001t0007g0044 a0001c0001t0009g0320 a0001c0001t0012g0185 a0001c0001t0039g0002 a0001c0001t0051g0260 a0001c0004t0012g0196 a0001c0006t0007g0046 a0001c0006t0020g0045 a0002c0003t0060g0103 a0002c0003t0061g0069 a0003c0002t0017g0018 a0003c0002t0021g0227 a0003c0002t0021g0249	41	346	0.1185	-30	c.931 others(47): Show c.931-9245_931-9216delTATTCTATTCTATTGTATTCTATTCTAT TC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89875221	GAACTGCC others(23): Show GAACTGCCATGCAGGGGAACTGCCCTTTTAT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	284	0.0035	-30	c.410 others(49): Show c.410+56290_410+56319delATAAAAGGGCAGTTCCCCTGCATGGC AGTT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB5_chr17_29936634_30113452	30036257	TACATATA others(23): Show TACATATATAATATATAATTATATATAATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19080.hp1 NA19080.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0009 a0011 a0012 a0013 a0016	a0001c0001 a0001c0012 a0002c0002 others(12): Show a0001c0001 a0001c0012 a0002c0002 a0002c0005 a0002c0016 a0002c0017 a0002c0019 a0002c0020 a0003c0003 a0006c0008 a0009c0010 a0011c0022 a0012c0023 a0013c0018 a0016c0026	a0001c0001t0001 a0001c0012t0001 a0002c0002t0002 others(13): Show a0001c0001t0001 a0001c0012t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0002c0016t0002 a0002c0017t0002 a0002c0019t0002 a0002c0020t0002 a0003c0003t0002 a0006c0008t0002 a0009c0010t0002 a0011c0022t0001 a0012c0023t0001 a0013c0018t0002 a0016c0026t0002	a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0001g0108 others(191): Show a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0012t0001g0187 a0001c0012t0001g0196 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0096 a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0002t0003g0053 a0002c0005t0002g0025 a0002c0005t0002g0039 a0002c0005t0002g0060 a0002c0005t0002g0064 a0002c0016t0002g0014 a0002c0017t0002g0035 a0002c0019t0002g0040 a0002c0020t0002g0019 a0003c0003t0002g0133 a0006c0008t0002g0016 a0006c0008t0002g0017 a0006c0008t0002g0018 a0009c0010t0002g0093 a0009c0010t0002g0094 a0011c0022t0001g0172 a0012c0023t0001g0181 a0013c0018t0002g0051 a0016c0026t0002g0083	195	248	0.7863	-30	c.120 others(49): Show c.1200+1989_1200+2018delATACACATATATAATATATAATTATA TATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43614863	TTATGGAG others(23): Show TTATGGAGTCCACAGCACAGACAGTCCACTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA20129.hp1 HG02630.hp1 NA20129.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0090 a0013c0018t0001g0092 a0013c0018t0001g0090 a0013c0018t0001g0092	2	290	0.0069	-30	c.256 others(47): Show c.2562+933_2562+962delGAGTGGACTGTCTGTGCTGTGGACTCCA TA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	21/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43629326	ACTAGAGG others(23): Show ACTAGAGGTGTGGCTTTGTGTCACTTTTTCC	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	290	0.0035	-30	c.223 others(49): Show c.2233-2677_2233-2648delGGAAAAAGTGACACAAAGCCACACCT CTAG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	19/31			chr22	TogoVar
EFCAB7_chr1_63518525_63577693	63562445	TTATTTAT others(23): Show TTATTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0211 a0003c0005t0001g0211	1	374	0.0027	-30	c.149 others(47): Show c.1497+592_1497+621delTTATATATATATATATATATATATATAT AT	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB7_chr1_63518525_63577693	63562449	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	374	0.0027	-30	c.149 others(47): Show c.1497+609_1497+638delTATATATATATATATATATATATATATA TA	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFHC2_chrX_44142872_44348672	44209019	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01070.hp1 others(42): Show HG00438.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01256.hp1 HG01358.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02074.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03492.hp1 HG03831.hp1 HG06807.hp1 NA18939.hp2 NA18943.hp1 NA18957.hp2 NA18974.hp1 NA18994.hp1 NA19005.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0004c0004 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0004 a0003c0003t0002 a0004c0004t0002 a0013c0014t0023	a0001c0001t0001g0194 a0001c0001t0002g0082 a0001c0001t0002g0096 others(42): Show a0001c0001t0001g0194 a0001c0001t0002g0082 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0007g0124 a0001c0001t0009g0007 a0001c0001t0009g0009 a0002c0002t0002g0014 a0002c0002t0002g0062 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0090 a0002c0002t0002g0140 a0002c0002t0002g0164 a0002c0002t0002g0181 a0002c0002t0002g0190 a0002c0002t0002g0201 a0002c0002t0004g0207 a0002c0002t0004g0209 a0002c0002t0007g0118 a0002c0002t0007g0155 a0002c0002t0007g0166 a0002c0002t0007g0216 a0002c0002t0007g0217 a0002c0008t0004g0055 a0002c0008t0004g0128 a0003c0003t0002g0020 a0003c0003t0002g0054 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0109 a0003c0003t0002g0120 a0003c0003t0002g0186 a0003c0003t0002g0187 a0004c0004t0002g0022 a0004c0004t0002g0027 a0004c0004t0002g0028 a0013c0014t0023g0191	45	221	0.2036	-30	c.175 others(51): Show c.1751+20600_1751+20629delCACACACACACACACACACACACA CACACA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFNA5_chr5_107371894_107675937	107482802	CTCTCTCT others(23): Show CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00544.hp2 others(8): Show HG00140.hp2 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG01978.hp2 HG02145.hp2 HG04184.hp1 NA18965.hp1 NA18982.hp2 NA19005.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0023 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0073	a0001c0001t0001g0139 a0001c0001t0004g0091 a0001c0001t0005g0051 others(8): Show a0001c0001t0001g0139 a0001c0001t0004g0091 a0001c0001t0005g0051 a0001c0001t0007g0146 a0001c0001t0010g0154 a0001c0001t0016g0035 a0001c0001t0023g0155 a0001c0001t0027g0067 a0001c0001t0030g0042 a0001c0001t0032g0002 a0001c0001t0073g0085	11	190	0.0579	-30	c.126 others(49): Show c.126-55323_126-55294delCAGAGACAGAGAGAGAGACAGAGAGA GAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107482814	GTCTCTCT others(23): Show GTCTCTCTCTCTGTCTCTGTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0111 a0001c0001t0050g0111	1	190	0.0053	-30	c.126 others(49): Show c.126-55335_126-55306delGAGAGAGAGAGACAGAGACAGAGAGA GAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107482846	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0009 a0001c0001t0049g0009	1	190	0.0053	-30	c.126 others(49): Show c.126-55367_126-55338delTATATAGAGAGAGAGAGAGAGAGAGA GAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar

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