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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Select column to sort.

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Results per page.

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
DLST_chr14_74876916_74908743	74883137	TACAAAAA others(28): Show TACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTG	T T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0173 a0001c0003t0003g0173	1	392	0.0026	-35	c.97+ others(48): Show c.97+514_97+548delACAAAAAATTAGCCGGGCGTGGTGGCAGGCGC CTG	DLST	ENSG00000119689.15	transcript	ENST00000334220.9	protein_coding	2/14			chr14	TogoVar
DMD_chrX_31114222_33216549	32452293	GAAAAGGA others(28): Show GAAAAGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01109.hp1 others(13): Show HG00642.hp1 HG01074.hp1 HG01109.hp1 HG02027.hp1 HG02132.hp1 HG02698.hp1 HG03017.hp1 HG03139.hp1 HG03486.hp1 HG03654.hp1 HG04204.hp1 NA18955.hp1 NA18971.hp1 NA18983.hp1 NA18988.hp1 NA19085.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0011 a0013 a0015	a0001c0001 a0001c0002 a0001c0054 others(8): Show a0001c0001 a0001c0002 a0001c0054 a0002c0005 a0004c0004 a0004c0011 a0005c0045 a0005c0053 a0011c0049 a0013c0015 a0015c0056	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0054t0001 a0002c0005t0001 a0002c0005t0002 a0004c0004t0001 a0004c0011t0001 a0004c0011t0002 a0005c0045t0018 a0005c0053t0004 a0011c0049t0001 a0013c0015t0001 a0015c0056t0021	a0001c0001t0001g0054 a0001c0001t0001g0080 a0001c0001t0013g0012 others(13): Show a0001c0001t0001g0054 a0001c0001t0001g0080 a0001c0001t0013g0012 a0001c0002t0001g0074 a0001c0054t0001g0100 a0002c0005t0001g0049 a0002c0005t0002g0020 a0004c0004t0001g0064 a0004c0004t0001g0083 a0004c0011t0001g0085 a0004c0011t0002g0035 a0005c0045t0018g0118 a0005c0053t0004g0103 a0011c0049t0001g0073 a0013c0015t0001g0030 a0015c0056t0021g0045	16	126	0.1270	-35	c.360 others(54): Show c.3603+2334_3603+2368delACTTTCACTTTCACTTTCACTTTCCC TTTCCTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DNAAF3_chr19_55153665_55171613	55155452	GGAGGGGC others(28): Show GGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	398	0.0025	-35	c.35 others(46): Show c.3575_*3609delTCCCTCAGACCCTGGAGTCCAGGCCCCAGCCCCT C	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		3212		chr19	TogoVar
DNER_chr2_229352629_229719555	229554857	AAAGAGAA others(28): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03195.hp2 HG01109.hp2 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0022 a0002c0003t0001g0104 a0002c0003t0001g0022 a0002c0003t0001g0104	2	176	0.0114	-35	c.848 others(52): Show c.848-7800_848-7766delCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229640457	CAGAAATA others(28): Show CAGAAATACCTTTCTCTCTACTCATGTGGTATGAGG	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03927.hp1 NA20805.hp2 HG01516.hp1 HG03927.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0012 a0001c0001t0001g0121 a0001c0001t0004g0091 a0001c0001t0001g0012 a0001c0001t0001g0121 a0001c0001t0004g0091	3	176	0.0171	-35	c.277 others(54): Show c.277-48604_277-48570delCCTCATACCACATGAGTAGAGAGAAA GGTATTTCT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNTTIP1_chr20_45786954_45816418	45800687	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	412	0.0024	-35	c.373 others(50): Show c.373-385_373-351delAAAAAAATATATATATATATATATATATAT ATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800689	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04228.hp2 HG01074.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0092 a0001c0001t0001g0099	2	412	0.0049	-35	c.373 others(50): Show c.373-383_373-349delAAAAATATATATATATATATATATATATAT ATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800691	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(25): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00733.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG02257.hp1 HG02258.hp1 HG02683.hp1 HG02735.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 NA19030.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0023 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0109	28	412	0.0680	-35	c.373 others(50): Show c.373-381_373-347delAAATATATATATATATATATATATATATAT ATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800693	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00733.hp2 others(85): Show HG00438.hp1 HG00621.hp2 HG00733.hp2 HG00741.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG02004.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02886.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19076.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0020 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0216 a0003c0005t0001g0001	88	412	0.2136	-35	c.373 others(50): Show c.373-379_373-345delATATATATATATATATATATATATATATAT ATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800695	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02135.hp1 HG03017.hp1 others(6): Show HG00597.hp1 HG02135.hp1 HG03017.hp1 HG03831.hp1 NA18940.hp2 NA18944.hp2 NA19056.hp2 NA19070.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0078 a0001c0001t0001g0089 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0003g0079	9	412	0.0218	-35	c.373 others(50): Show c.373-378_373-344delTATATATATATATATATATATATATATATA TATAT	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12			chr20	TogoVar
DOCK2_chr5_169632275_170088382	169792364	ATATATAT others(28): Show ATATATATATTTTATATATGTATACATGTATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0001 a0014c0034t0001	a0014c0034t0001g0057 a0014c0034t0001g0057	1	184	0.0054	-35	c.255 others(56): Show c.2555-10656_2555-10622delTATATATTTTATATATGTATACAT GTATATGTGTA	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	25/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK2_chr5_169632275_170088382	169869560	CCTTATAA others(28): Show CCTTATAAATGGGGAGGGACAGAGCCCTCTCATCTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0001 a0002c0070t0001	a0002c0070t0001g0141 a0002c0070t0001g0141	1	184	0.0054	-35	c.279 others(56): Show c.2799+28712_2799+28746delATAAATGGGGAGGGACAGAGCCCT CTCATCTGCTT	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	27/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK5_chr8_25179689_25420711	25216981	CAATATGT others(28): Show CAATATGTATAGATGTATACAATATGTGTATACAAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18959.hp2 HG03225.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0012 a0001c0008t0003 a0001c0002t0012 a0001c0008t0003	a0001c0002t0012g0182 a0001c0008t0003g0130 a0001c0002t0012g0182 a0001c0008t0003g0130	2	210	0.0095	-35	c.44- others(52): Show c.44-26691_44-26657delATATGTATAGATGTATACAATATGTGTA TACAATA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DONSON_chr21_33572551_33593684	33577610	CACACACA others(28): Show CACACACACACACACACACACACACACACACACACA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0204 a0001c0001t0079g0204	1	426	0.0024	-35	c.66 others(44): Show c.662_*696delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	662		chr21	TogoVar
DONSON_chr21_33572551_33593684	33577654	CACACACA others(28): Show CACACACACACACACACACACACACACACACACACA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG03195.hp2 HG03225.hp1 HG00741.hp2 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0007 a0001c0002t0036g0030 a0001c0002t0036g0007 a0001c0002t0036g0030	3	426	0.0070	-35	c.61 others(44): Show c.618_*652delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	618		chr21	TogoVar
DONSON_chr21_33572551_33593684	33577667	ACACACAC others(28): Show ACACACACACACACACACACACACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 NA19056.hp2 HG03540.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0196 a0001c0001t0071g0217 a0001c0001t0071g0196 a0001c0001t0071g0217	2	426	0.0047	-35	c.60 others(44): Show c.605_*639delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	605		chr21	TogoVar
DPEP1_chr16_89608642_89643433	89639115	ATTCACAT others(28): Show ATTCACATCCCACCCCTGCACACACCCTCATCCTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	250	0.0040	-35	c.89 others(44): Show c.894_*928delTTCACATCCCACCCCTGCACACACCCTCATCCTTG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding		683		chr16	TogoVar
DPP6_chr7_154047398_154899285	154431442	CTTTCTTT others(28): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02083.hp1 NA20905.hp2 HG02040.hp1 HG02083.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0002c0019 a0001c0007 a0002c0002 a0002c0019	a0001c0007t0019 a0002c0002t0002 a0002c0019t0001 a0001c0007t0019 a0002c0002t0002 a0002c0019t0001	a0001c0007t0019g0037 a0002c0002t0002g0020 a0002c0019t0001g0021 a0001c0007t0019g0037 a0002c0002t0002g0020 a0002c0019t0001g0021	3	38	0.0790	-35	c.244 others(54): Show c.244-14739_244-14705delTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYSL4_chr10_132181948_132210759	132187330	GGCCCGGC others(28): Show GGCCCGGCCCGGCCCTGCCCGGCCCTGCCGGGCCCT	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0209 a0001c0006t0003g0209	1	418	0.0024	-35	c.39+ others(48): Show c.39+232_39+266delCGGCCCGGCCCTGCCCGGCCCTGCCGGGCCCT GCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132187334	CGGCCCGG others(28): Show CGGCCCGGCCCTGCCCGGCCCTGCCGGGCCCTGCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0011 a0001c0012 a0001c0013 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0026 a0001c0027 a0003c0008 a0003c0025 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0035 a0001c0003t0001 a0001c0004t0011 a0001c0007t0001 a0001c0007t0004 a0001c0007t0014 a0001c0011t0001 a0001c0012t0015 a0001c0013t0004 a0001c0017t0006 a0001c0018t0028 a0001c0021t0001 a0001c0022t0004 a0001c0026t0001 a0001c0027t0002 a0003c0008t0007 a0003c0025t0007 a0005c0019t0002	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(118): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0176 a0001c0001t0001g0211 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0004g0035 a0001c0001t0004g0057 a0001c0001t0004g0059 a0001c0001t0004g0133 a0001c0001t0004g0148 a0001c0001t0004g0179 a0001c0001t0006g0001 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0118 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0001t0006g0127 a0001c0001t0006g0178 a0001c0001t0012g0180 a0001c0001t0012g0181 a0001c0001t0014g0166 a0001c0001t0016g0006 a0001c0001t0016g0115 a0001c0001t0020g0024 a0001c0001t0021g0024 a0001c0001t0029g0006 a0001c0001t0034g0113 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0139 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0014g0007 a0001c0002t0014g0154 a0001c0002t0035g0152 a0001c0003t0001g0142 a0001c0004t0011g0183 a0001c0007t0001g0030 a0001c0007t0001g0138 a0001c0007t0004g0048 a0001c0007t0004g0058 a0001c0007t0004g0155 a0001c0007t0014g0126 a0001c0011t0001g0021 a0001c0011t0001g0129 a0001c0012t0015g0184 a0001c0013t0004g0182 a0001c0017t0006g0117 a0001c0018t0028g0185 a0001c0021t0001g0023 a0001c0022t0004g0157 a0001c0026t0001g0015 a0001c0027t0002g0124 a0003c0008t0007g0012 a0003c0025t0007g0186 a0005c0019t0002g0003	244	418	0.5837	-35	c.39+ others(48): Show c.39+238_39+272delGGCCCTGCCCGGCCCTGCCGGGCCCTGCCGGG CCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYS_chr8_104374431_104472055	104406044	AAGTAACT others(28): Show AAGTAACTCCCCCTGGGTTACACCGTCAGTAAGTGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	380	0.0026	-35	c.123 others(56): Show c.1236-13088_1236-13054delCCACTTACTGACGGTGTAACCCAG GGGGAGTTACT	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	7/9			chr8	TogoVar
DRD3_chr3_114122580_114184052	114156737	CTTTCTTT others(28): Show CTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	360	0.0028	-35	c.383 others(52): Show c.383+2983_383+3017delAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAAGAAA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DROSHA_chr5_31395494_31537093	31397456	ATATATAT others(28): Show ATATATATATATATATATAGTATAGCTCTGAACTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01358.hp2 HG02258.hp1 others(12): Show HG01074.hp2 HG01358.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02895.hp2 HG03139.hp2 HG03225.hp2 HG03516.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0006 a0004c0015 others(1): Show a0001c0003 a0003c0006 a0004c0015 a0004c0016	a0001c0003t0003 a0003c0006t0003 a0004c0015t0003 others(1): Show a0001c0003t0003 a0003c0006t0003 a0004c0015t0003 a0004c0016t0003	a0001c0003t0003g0088 a0001c0003t0003g0100 a0001c0003t0003g0118 others(12): Show a0001c0003t0003g0088 a0001c0003t0003g0100 a0001c0003t0003g0118 a0001c0003t0003g0125 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0214 a0001c0003t0003g0239 a0001c0003t0003g0240 a0003c0006t0003g0229 a0003c0006t0003g0230 a0004c0015t0003g0301 a0004c0016t0003g0253	15	322	0.0466	-35	c.39 others(46): Show c.3941_*3975delCCAGTTCAGAGCTATACTATATATATATATATAT A	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3037		chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117577499	TTCCTTCC others(28): Show TTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0006 a0006	a0006c0065 a0006c0065	a0006c0065t0001 a0006c0065t0001	a0006c0065t0001g0109 a0006c0065t0001g0109	1	194	0.0052	-35	c.512 others(54): Show c.512-45012_512-44978delGGAAGGAAGGAAGGAAGGAAGGAAGG AGGGAAGGA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117769213	TTATATAT others(28): Show TTATATATATTGTATATATTATATATTTTATATATG	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0041 a0002c0006t0004g0041	1	194	0.0052	-35	c.511 others(52): Show c.511+7543_511+7577delCATATATAAAATATATAATATATACAAT ATATATA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSEL_chr18_67501587_67521720	67521636	GGGAATAC others(28): Show GGGAATACGTTTCCAACACTTGGATTTGGGGGAACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG02976.hp2 others(1): Show HG01106.hp1 HG01109.hp2 HG02976.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0021 a0002c0002t0068 a0001c0003t0021 a0002c0002t0068	a0001c0003t0021g0024 a0002c0002t0068g0106 a0001c0003t0021g0024 a0002c0002t0068g0106	4	421	0.0095	-35	c.-61 others(46): Show c.-6195_-6161delTGTTCCCCCAAATCCAAGTGTTGGAAACGTATTC C	DSEL	ENSG00000171451.15	transcript	ENST00000310045.9	protein_coding		4917		chr18	TogoVar
DSG3_chr18_31442741_31483702	31457547	CTCTTTCT others(28): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0023 a0001c0007t0023	a0001c0007t0023g0160 a0001c0007t0023g0160	1	346	0.0029	-35	c.216 others(50): Show c.216+425_216+459delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSTYK_chr1_205137505_205216702	205141718	TTCAGTTG others(28): Show TTCAGTTGCATTAAATGAATACTGTGTCGGTATAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0322 a0002c0003t0006g0322	1	348	0.0029	-35	c.58 others(46): Show c.5805_*5839delCCTATACCGACACAGTATTCATTTAATGCAACTG A	DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding		786		chr1	TogoVar
DTHD1_chr4_36276616_36352511	36332187	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG01167.hp2 others(25): Show HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG01891.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp2 HG03579.hp2 HG03927.hp2 HG04204.hp1 NA19240.hp2	a0001 a0006 a0017 a0001 a0006 a0017	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0006c0010 a0006c0016 a0017c0037	a0001c0001t0003 a0001c0002t0004 a0001c0002t0012 others(7): Show a0001c0001t0003 a0001c0002t0004 a0001c0002t0012 a0001c0002t0029 a0001c0004t0004 a0001c0004t0008 a0001c0004t0012 a0006c0010t0004 a0006c0016t0003 a0017c0037t0022	a0001c0001t0003g0005 a0001c0002t0004g0008 a0001c0002t0004g0076 others(22): Show a0001c0001t0003g0005 a0001c0002t0004g0008 a0001c0002t0004g0076 a0001c0002t0004g0097 a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0106 a0001c0002t0004g0121 a0001c0002t0004g0122 a0001c0002t0004g0124 a0001c0002t0004g0125 a0001c0002t0004g0129 a0001c0002t0012g0006 a0001c0002t0012g0103 a0001c0002t0029g0100 a0001c0004t0004g0251 a0001c0004t0004g0252 a0001c0004t0004g0253 a0001c0004t0004g0254 a0001c0004t0004g0255 a0001c0004t0008g0026 a0001c0004t0012g0250 a0006c0010t0004g0112 a0006c0016t0003g0130 a0017c0037t0022g0088	28	308	0.0909	-35	c.234 others(54): Show c.2341-6887_2341-6853delAATAAAATAAAATAAAATAAAATAAA ATAAAATAA	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
DTNA_chr18_34705298_34896844	34768407	GCACTCAA others(28): Show GCACTCAACATTAAGGTGGACACACTGTGTTGTCCC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG03130.hp2 others(3): Show HG02723.hp2 HG02922.hp2 HG03130.hp2 HG03516.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0002c0003t0007	a0001c0001t0001g0033 a0001c0001t0003g0004 a0001c0001t0005g0024 others(3): Show a0001c0001t0001g0033 a0001c0001t0003g0004 a0001c0001t0005g0024 a0001c0001t0007g0031 a0001c0001t0012g0007 a0002c0003t0007g0075	6	112	0.0536	-35	c.148 others(52): Show c.148+2380_148+2414delGGTGGACACACTGTGTTGTCCCCACTCA ACATTAA	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNA_chr18_34705298_34896844	34768421	GGTGGACA others(28): Show GGTGGACACACTGTGTTGTCCCCACTCAACATTAAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp2 HG03579.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0002g0022 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0002g0022	3	112	0.0268	-35	c.148 others(52): Show c.148+2400_148+2434delCCCACTCAACATTAAAGTGGACACACTG TGTTGTC	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DUSP14_chr17_37484891_37518498	37509232	CTATATAC others(28): Show CTATATACACACTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18906.hp2 HG01109.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0200 a0001c0001t0002g0201	2	421	0.0048	-35	c.-18 others(54): Show c.-180-1438_-180-1404delCACACTATATATATATATATATATAT ATATATATA	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUXA_chr19_57149021_57172485	57172053	GGGGGCGT others(28): Show GGGGGCGTGCGAGGGGGCGGGGGCGCGCGAGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG02647.hp2 HG00323.hp2 HG00408.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0164 a0001c0001t0002g0005 a0001c0001t0002g0136 a0001c0001t0001g0164 a0001c0001t0002g0005 a0001c0001t0002g0136	3	446	0.0067	-35	c.-46 others(46): Show c.-4645_-4611delGCCCCCTCGCGCGCCCCCGCCCCCTCGCACGCCC C	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4569		chr19	TogoVar
DYNC1H1_chr14_101959573_102061443	102057684	CAACACCT others(28): Show CAACACCTAACACCTAACACCTAACACCCAACACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02809.hp1 HG00639.hp1 HG02809.hp1	a0001 a0001	a0001c0023 a0001c0024 a0001c0023 a0001c0024	a0001c0023t0021 a0001c0024t0022 a0001c0023t0021 a0001c0024t0022	a0001c0023t0021g0240 a0001c0024t0022g0239 a0001c0023t0021g0240 a0001c0024t0022g0239	2	280	0.0071	-35	c.71 others(46): Show c.7122_*7156delAACACCTAACACCTAACACCTAACACCCAACACC T	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding		1242		chr14	TogoVar
DYNC1I2_chr2_171682469_171755158	171737794	CTGAGTAG others(28): Show CTGAGTAGATGATTTTTTTTTTTTAACTTTTAGGTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	334	0.0030	-35	c.153 others(54): Show c.1537-6254_1537-6220delTGAGTAGATGATTTTTTTTTTTTAAC TTTTAGGTT	DYNC1I2	ENSG00000077380.16	transcript	ENST00000397119.8	protein_coding	15/17			chr2	TogoVar
ECHDC2_chr1_52890910_52926740	52898718	GACTAGAT others(28): Show GACTAGATGGGAGAGTTGAGGTGGACAGATGGATTA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show HG03130.hp2 HG03139.hp2 HG03453.hp1 NA18906.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0001 a0003c0004t0001 a0002c0003t0001 a0003c0004t0001	a0002c0003t0001g0040 a0002c0003t0001g0157 a0003c0004t0001g0155 others(1): Show a0002c0003t0001g0040 a0002c0003t0001g0157 a0003c0004t0001g0155 a0003c0004t0001g0156	5	314	0.0159	-35	c.753 others(50): Show c.753+421_753+455delTAATCCATCTGTCCACCTCAACTCTCCCAT CTAGT	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding	8/9			chr1	TogoVar
EDA_chrX_69611113_70044472	69612261	GTTTTATT others(28): Show GTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02145.hp1 HG02886.hp2 others(5): Show HG01255.hp1 HG02145.hp1 HG02886.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0001 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0004g0135 others(5): Show a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0013g0138	8	226	0.0354	-35	c.-40 others(46): Show c.-4047_-4013delTTTTATTTTATTTTATTTTATTTTATTTTATTTT A	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding		3851		chrX	TogoVar
EDDM13_chr19_56267748_56315454	56302675	CCTTCCCT others(28): Show CCTTCCCTCCTTCTCTCTCCTTCCTTCTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	396	0.0025	-35	c.423 others(50): Show c.423+590_423+624delTTCTCTCTCCTTCCTTCTCTTTCCTTCTTC CCTCC	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDIL3_chr5_83935554_84389880	84160744	TCTTTCCT others(28): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG02109.hp1 others(3): Show HG00438.hp1 HG00558.hp2 HG02109.hp1 NA18944.hp1 NA18944.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0019 a0001c0001t0001g0120 a0001c0001t0002g0007 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0120 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0004g0022 a0001c0001t0004g0079	6	158	0.0380	-35	c.355 others(54): Show c.355+19614_355+19648delGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EEPD1_chr7_36148254_36306538	36271849	CTATTCTA others(28): Show CTATTCTATTCTATTCTATTCTATTCTATTCTATTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp1 HG00733.hp2 others(25): Show HG00544.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01934.hp2 HG01981.hp1 HG02109.hp1 HG02135.hp1 HG02293.hp1 HG02698.hp1 HG02886.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03942.hp2 NA18978.hp1 NA18985.hp1 NA19003.hp2 NA19012.hp1 NA19079.hp2 NA19085.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0002c0014 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0030 a0001c0001t0045 a0001c0001t0047 a0001c0001t0052 a0001c0001t0057 a0001c0004t0016 a0001c0008t0011 a0002c0014t0031 a0003c0002t0017 a0003c0002t0020 a0003c0002t0026	a0001c0001t0001g0148 a0001c0001t0002g0237 a0001c0001t0002g0265 others(25): Show a0001c0001t0001g0148 a0001c0001t0002g0237 a0001c0001t0002g0265 a0001c0001t0002g0274 a0001c0001t0002g0329 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0006g0093 a0001c0001t0007g0033 a0001c0001t0009g0313 a0001c0001t0009g0315 a0001c0001t0009g0316 a0001c0001t0009g0328 a0001c0001t0030g0209 a0001c0001t0030g0219 a0001c0001t0045g0003 a0001c0001t0047g0008 a0001c0001t0052g0261 a0001c0001t0057g0174 a0001c0004t0016g0173 a0001c0008t0011g0048 a0002c0014t0031g0064 a0003c0002t0017g0017 a0003c0002t0017g0035 a0003c0002t0020g0057 a0003c0002t0026g0052	28	346	0.0809	-35	c.931 others(52): Show c.931-9250_931-9216delTATTCTATTCTATTCTATTGTATTCTAT TCTATTC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHD1_chr11_64846642_64883621	64861580	CTACAGCT others(28): Show CTACAGCTCAGGGATCAAACCTGGCCCACCACCTGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02630.hp2 others(2): Show HG02055.hp2 HG02145.hp2 HG02630.hp2 HG02886.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0031 a0001c0004t0012 a0001c0004t0031	a0001c0004t0012g0031 a0001c0004t0012g0141 a0001c0004t0012g0143 others(1): Show a0001c0004t0012g0031 a0001c0004t0012g0141 a0001c0004t0012g0143 a0001c0004t0031g0142	5	354	0.0141	-35	c.503 others(52): Show c.503-1279_503-1245delACAGGTGGTGGGCCAGGTTTGATCCCTG AGCTGTA	EHD1	ENSG00000110047.18	transcript	ENST00000320631.8	protein_coding	2/4			chr11	TogoVar
EHD2_chr19_47708422_47748134	47718772	ATCTGAGG others(28): Show ATCTGAGGGAGGAGGGGCTGGGCCCAGACTCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0062 a0001c0004t0007g0062	1	398	0.0025	-35	c.502 others(50): Show c.502+188_502+222delCCCAGACTCCTGGGTCTGAGGGAGGAGGGG CTGGG	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137720012	ACACAGTC others(28): Show ACACAGTCGAGGTGCCGAACCTCCTCCACACCAGGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01346.hp1 NA18979.hp2 HG01070.hp2 HG01346.hp1 NA18979.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0011 a0006c0013 a0001c0001 a0001c0011 a0006c0013	a0001c0001t0001 a0001c0011t0001 a0006c0013t0001 a0001c0001t0001 a0001c0011t0001 a0006c0013t0001	a0001c0001t0001g0163 a0001c0011t0001g0034 a0006c0013t0001g0031 a0001c0001t0001g0163 a0001c0011t0001g0034 a0006c0013t0001g0031	3	170	0.0177	-35	c.642 others(52): Show c.642+2851_642+2885delTCCTCCACACCAGGGCACAGTCGAGGTG CCGAACC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818595	GGCGCCAT others(28): Show GGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	170	0.0059	-35	c.354 others(52): Show c.3540+459_3540+493delCGCCATGTACCGAGACCGTAGAGAGGCC GACTGAG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819545	GGCGCCGT others(28): Show GGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	170	0.0059	-35	c.354 others(54): Show c.3540+1409_3540+1443delCGCCGTGTACCGAGACCGTAGAGAGG CCGACTGAG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4G3_chr1_20801479_21181897	20981484	GCATACAT others(28): Show GCATACATACATGTATACGCACATACTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(59): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG02886.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG04184.hp1 HG04228.hp2 NA18949.hp1 NA18957.hp1 NA18965.hp2 NA18966.hp1 NA18975.hp2 NA18982.hp1 NA18987.hp2 NA19009.hp1 NA19030.hp2 NA19057.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0009 a0005c0012 a0001c0001 a0001c0009 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0009t0002 a0005c0012t0002	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0209 others(59): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0209 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0013g0033 a0001c0001t0013g0034 a0001c0001t0017g0003 a0001c0001t0018g0073 a0001c0001t0019g0093 a0001c0009t0002g0092 a0005c0012t0002g0005	62	312	0.1987	-35	c.199 others(50): Show c.199-292_199-258delTATATATACAGTATGTGCGTATACATGTAT GTATG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	8/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20981515	ATATACAT others(28): Show ATATACATACATACATGTATACGCACATACTGTATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02486.hp2 others(11): Show HG01884.hp1 HG02145.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0205 a0001c0001t0009g0206 a0001c0002t0001g0095 others(11): Show a0001c0001t0009g0205 a0001c0001t0009g0206 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107	14	312	0.0449	-35	c.199 others(50): Show c.199-323_199-289delCATACAGTATGTGCGTATACATGTATGTAT GTATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	8/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3296210	TACACAGA others(28): Show TACACAGACACCCTCCATCCAGCCCATCCTCACCAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(94): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02109.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0016 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0044 a0001c0001t0002g0069 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0208 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0091 a0001c0001t0003g0129 a0001c0001t0003g0143 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0008 a0001c0001t0004g0103 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0181 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0006t0003g0203	97	250	0.3880	-35	c.260 others(54): Show c.260-38790_260-38756delGTGGTGAGGATGGGCTGGATGGAGGG TGTCTGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG01099.hp1 others(21): Show HG00609.hp2 HG00621.hp2 HG01099.hp1 HG01358.hp2 HG02027.hp1 HG02074.hp2 HG02615.hp1 HG03139.hp2 HG03453.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18962.hp2 NA18984.hp2 NA18992.hp2 NA19043.hp1 NA19080.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0113 others(21): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0272 a0001c0001t0002g0036 a0001c0001t0003g0144 a0001c0001t0003g0156 a0001c0001t0003g0163 a0001c0001t0003g0250 a0001c0001t0006g0123 a0001c0001t0015g0117	24	352	0.0682	-35	c.-15 others(54): Show c.-15-17765_-15-17731delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELFN1_chr7_1665277_1752946	1719260	GGACCCAA others(28): Show GGACCCAAGCCACCAACAGGGCCCCGCCCACCAACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	302	0.0033	-35	c.-29 others(56): Show c.-294+10010_-294+10044delACCCAAGCCACCAACAGGGCCCCG CCCACCAACAG	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 2085 hits)