Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results 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
SP100_chr2_230411201_230550606	230497539	GAGGAGAG others(18): Show GAGGAGAGGAAAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	290	0.0035	-25	c.164 others(42): Show c.1646-917_1646-893delGAGGAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230300651	GCAGCTCT others(18): Show GCAGCTCTTGAGTTTCAGATCTTTCC	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	370	0.0027	-25	c.205 others(44): Show c.2058+3190_2058+3214delCAGCTCTTGAGTTTCAGATCTTTCC	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26			chr2	TogoVar
SP8_chr7_20777279_20791886	20790863	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	416	0.0024	-25	c.-40 others(36): Show c.-4090_-4066delCTCTCTCTTTTTTTTTTTTTTTTTT	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		3978		chr7	TogoVar
SP9_chr2_174329954_174343500	174332976	GTTCTCTT others(18): Show GTTCTCTTCTCCTCTGTTCCTTCTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(323): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0014 a0002c0004 a0003c0010 a0004c0012 a0005c0015 a0006c0016 a0007c0013 a0008c0017	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(16): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0011 a0001c0003t0001 a0001c0003t0004 a0001c0003t0008 a0001c0005t0013 a0001c0014t0010 a0002c0004t0001 a0002c0004t0002 a0003c0010t0001 a0004c0012t0001 a0005c0015t0001 a0006c0016t0001 a0007c0013t0001 a0008c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0007g0002 a0001c0001t0012g0003 a0001c0001t0014g0003 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0011g0001 a0001c0003t0001g0004 a0001c0003t0001g0014 a0001c0003t0004g0003 a0001c0003t0004g0006 a0001c0003t0008g0006 a0001c0005t0013g0002 a0001c0014t0010g0003 a0002c0004t0001g0003 a0002c0004t0002g0002 a0003c0010t0001g0002 a0004c0012t0001g0001 a0005c0015t0001g0001 a0006c0016t0001g0001 a0007c0013t0001g0002 a0008c0017t0001g0003	326	404	0.8069	-25	c.-21 others(36): Show c.-2116_-2092delTTCTCTTCTCCTCTGTTCCTTCTCT	SP9	ENSG00000217236.2	transcript	ENST00000394967.3	protein_coding		1977		chr2	TogoVar
SPACA4_chr19_48601742_48612714	48602705	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	392	0.0026	-25	c.-42 others(36): Show c.-4273_-4249delTATATATATATATATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4036		chr19	TogoVar
SPACA5B_chrX_48125626_48137620	48135317	TCTTTCTT others(18): Show TCTTTCTTTTCTTTCTTTCTTCCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00738.hp1 others(33): Show HG00438.hp2 HG00609.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01361.hp2 HG01891.hp2 HG02074.hp1 HG02080.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 NA18906.hp1 NA18906.hp2 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA19075.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004	36	312	0.1154	-25	c.27 others(36): Show c.2789_*2813delCTTTCTTTTCTTTCTTTCTTCCTTC	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2698		chrX	TogoVar
SPACA7_chr13_112371355_112439689	112383116	AAAAGAAA others(18): Show AAAAGAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG01192.hp1 others(16): Show HG01099.hp1 HG01106.hp2 HG01192.hp1 HG01884.hp2 HG02148.hp1 HG02258.hp2 HG02293.hp1 HG02886.hp1 HG03225.hp1 HG03486.hp2 NA18952.hp1 NA18961.hp1 NA18971.hp2 NA18975.hp1 NA18993.hp1 NA19002.hp2 NA19011.hp2 NA19054.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0100 a0001c0001t0001g0112 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0289 a0001c0001t0001g0302 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0167 a0002c0002t0001g0266	19	391	0.0486	-25	c.94+ others(40): Show c.94+6645_94+6669delAGAAAGAAAGAAAGAAAGAAAGAAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	213590918	GATTGGTT others(18): Show GATTGGTTAAAGAAAATATGTTATCT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG01256.hp2 others(18): Show HG00673.hp2 HG00735.hp1 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG02015.hp2 HG02615.hp1 HG02647.hp1 HG03130.hp2 HG03490.hp2 HG03831.hp1 NA18968.hp2 NA18977.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp1 NA19030.hp2 NA19086.hp1 NA19090.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 others(18): Show a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0067 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0064 a0003c0003t0001g0050 a0003c0003t0001g0055 a0003c0003t0001g0060 a0003c0003t0001g0062	21	86	0.2442	-25	c.107 others(48): Show c.1070+100831_1070+100855delTGGTTAAAGAAAATATGTTATC TAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213996590	ATGGAGTC others(18): Show ATGGAGTCTCTCCCTGTCACTCAGGC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	86	0.0116	-25	c.140 others(46): Show c.1401-17354_1401-17330delCTCTCCCTGTCACTCAGGCTGGAG T	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214126033	TCCTTCCT others(18): Show TCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02293.hp1 HG02647.hp1 others(4): Show HG01256.hp2 HG02293.hp1 HG02647.hp1 HG03471.hp2 HG03579.hp2 NA19087.hp1 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0009c0009	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0009c0009t0001	a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0001g0066 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0001g0066 a0002c0002t0001g0003 a0002c0002t0002g0073 a0003c0003t0001g0032 a0009c0009t0001g0085	7	86	0.0814	-25	c.159 others(46): Show c.1593+17774_1593+17798delCTTCCTTCCTTCCTTCCTTCCTTC C	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214219362	CAACTTAT others(18): Show CAACTTATCAAATAGAATTATTTGAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02109.hp1 HG02293.hp1 others(2): Show HG01256.hp1 HG02109.hp1 HG02293.hp1 HG02717.hp1 HG03471.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003	a0001c0001t0001g0033 a0002c0002t0001g0003 a0002c0002t0001g0076 others(2): Show a0001c0001t0001g0033 a0002c0002t0001g0003 a0002c0002t0001g0076 a0003c0003t0001g0080 a0003c0003t0003g0019	5	86	0.0581	-25	c.172 others(46): Show c.1720+70114_1720+70138delTATTTGATAACTTATCAAATAGAA T	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214261107	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG02922.hp1 others(3): Show HG02615.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp2 NA18992.hp2 NA19043.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0011	a0001c0001 a0002c0002 a0005c0005 others(3): Show a0001c0001 a0002c0002 a0005c0005 a0006c0006 a0007c0011 a0011c0008	a0001c0001t0002 a0002c0002t0001 a0005c0005t0001 others(3): Show a0001c0001t0002 a0002c0002t0001 a0005c0005t0001 a0006c0006t0001 a0007c0011t0001 a0011c0008t0001	a0001c0001t0002g0067 a0002c0002t0001g0056 a0005c0005t0001g0081 others(3): Show a0001c0001t0002g0067 a0002c0002t0001g0056 a0005c0005t0001g0081 a0006c0006t0001g0024 a0007c0011t0001g0086 a0011c0008t0001g0084	6	86	0.0698	-25	c.172 others(48): Show c.1720+111863_1720+111887delAAAAAAAAAAAAAAAAAAAAAA AAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPARCL1_chr4_87468335_87534376	87486888	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02280.hp1 HG02922.hp1 others(1): Show HG01099.hp2 HG02280.hp1 HG02922.hp1 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006	a0002c0001t0001g0072 a0002c0001t0002g0260 a0002c0001t0002g0261 others(1): Show a0002c0001t0001g0072 a0002c0001t0002g0260 a0002c0001t0002g0261 a0002c0001t0006g0262	4	390	0.0103	-25	c.153 others(44): Show c.1531+3360_1531+3384delAAAAAAAAAAAAAAAAAAAAAAAAA	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	7/10			chr4	TogoVar
SPATA1_chr1_84501386_84572379	84560108	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	312	0.0032	-25	c.129 others(44): Show c.1294+4148_1294+4172delAAGAAAGGAAAGAAAGAAAGAAAGA	SPATA1	ENSG00000122432.19	transcript	ENST00000699524.1	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA31A1_chr9_39350669_39366962	39356543	CATTTTAT others(18): Show CATTTTATTTTATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01074.hp1 others(15): Show HG00733.hp1 HG00738.hp1 HG01074.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01934.hp1 HG02080.hp1 HG02300.hp2 HG02615.hp2 HG02717.hp1 HG02735.hp1 HG03704.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0015 a0016 a0027	a0001c0001 a0002c0002 a0003c0004 others(4): Show a0001c0001 a0002c0002 a0003c0004 a0007c0011 a0015c0015 a0016c0014 a0027c0042	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0003c0004t0001 a0007c0011t0002 a0015c0015t0001 a0016c0014t0001 a0027c0042t0007	a0001c0001t0001g0007 a0001c0001t0001g0053 a0001c0001t0004g0072 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0053 a0001c0001t0004g0072 a0002c0002t0001g0007 a0003c0004t0001g0036 a0007c0011t0002g0019 a0015c0015t0001g0021 a0016c0014t0001g0007 a0027c0042t0007g0052	18	424	0.0425	-25	c.190 others(40): Show c.190-548_190-524delATTTTATTTTATTTTATTTTATTTT	SPATA31A1	ENSG00000204849.10	transcript	ENST00000377647.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA5_chr4_122918078_123324433	122988315	CCATAAAG others(18): Show CCATAAAGCCTAAAGAACTCCAAATA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp1 HG02965.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0035 a0001c0001t0034 a0001c0001t0035	a0001c0001t0034g0262 a0001c0001t0035g0261 a0001c0001t0034g0262 a0001c0001t0035g0261	2	262	0.0076	-25	c.186 others(44): Show c.1869+8932_1869+8956delTAAAGCCTAAAGAACTCCAAATACA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6_chr1_48290373_48477204	48382752	CGGGGGGC others(18): Show CGGGGGGCTGATCCCCCCACCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0193 a0001c0001t0040g0193	1	322	0.0031	-25	c.909 others(42): Show c.909+2532_909+2556delAGGGAGGTGGGGGGATCAGCCCCCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATS2_chr12_49362462_49532425	49366800	CTCGACTC others(18): Show CTCGACTCCCCTAGCGGCGCCCGCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG03041.hp2 others(2): Show HG02615.hp2 HG02886.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158	5	158	0.0317	-25	c.-10 others(36): Show c.-1093_-1069delTCGACTCCCCTAGCGGCGCCCGCGT	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding		661		chr12	TogoVar
SPATS2_chr12_49362462_49532425	49499391	GTTGTTTT others(18): Show GTTGTTTTGTTTTGTTTTGTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp2 HG02809.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0034 a0001c0001t0007g0035	2	158	0.0127	-25	c.704 others(40): Show c.704-651_704-627delGTTTTGTTTTGTTTTGTTTTGTTTT	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPDYA_chr2_28805834_28855610	28819844	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01255.hp2 HG02015.hp1 HG01070.hp2 HG01255.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0255 a0001c0001t0001g0271 a0001c0001t0001g0272	3	338	0.0089	-25	c.294 others(40): Show c.294+740_294+764delAAAAATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819846	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG02145.hp1 others(3): Show HG00140.hp2 HG00741.hp2 HG02145.hp1 HG03098.hp1 NA18977.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0251 others(3): Show a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0003g0318	6	338	0.0178	-25	c.294 others(40): Show c.294+742_294+766delAAATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819848	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02897.hp2 NA18959.hp1 others(3): Show HG02148.hp2 HG02897.hp2 NA18959.hp1 NA18972.hp1 NA18983.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0225 others(3): Show a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0247	6	338	0.0178	-25	c.294 others(40): Show c.294+744_294+768delATATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819850	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02109.hp1 NA19056.hp2 HG00673.hp1 HG02109.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0003g0194 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0003g0194	3	338	0.0089	-25	c.294 others(40): Show c.294+745_294+769delTATATATATATATATATATATATAT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7			chr2	TogoVar
SPDYE12_chr7_74899289_74920078	74918934	ATTGTGTG others(18): Show ATTGTGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	-25	c.-44 others(36): Show c.-4456_-4432delCACACACACACACACACACACACAA	SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding		3857		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	44005404	ACAGTGGA others(18): Show ACAGTGGAATACGCCTGTAATCCCAG	A A	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0161 a0002c0002t0019g0161	1	394	0.0025	-25	c.752 others(40): Show c.752+180_752+204delGTGGAATACGCCTGTAATCCCAGCA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67274831	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0009 a0005c0005t0004g0009	1	460	0.0022	-25	c.-26 others(36): Show c.-2653_-2629delAAAAAAAAAAAAAAAAAAAAAAAAA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding		2109		chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67280691	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0120 a0006c0006t0007g0120	1	460	0.0022	-25	c.379 others(40): Show c.379+669_380-645delAAAAAAAAAAAAAAAAAAAAAAAAA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPEF2_chr5_35612863_35819611	35757049	TACTATTA others(18): Show TACTATTAAAAATATTGTTTTTAATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0016 a0012c0014t0001g0016	1	268	0.0037	-25	c.346 others(44): Show c.3469-2499_3469-2475delTTAATAACTATTAAAAATATTGTTT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPG11_chr15_44557696_44668662	44559928	TTTTCAAG others(18): Show TTTTCAAGAGACAGGGTCTAGCTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0150 a0008c0007t0001g0150	1	190	0.0053	-25	c.31 others(36): Show c.3168_*3192delCACAGCTAGACCCTGTCTCTTGAAA	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding		2767		chr15	TogoVar
SPG7_chr16_89503403_89562766	89537375	GGGGAGCG others(18): Show GGGGAGCGTCGGCGCTGACCACACGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG02155.hp1 others(2): Show HG00408.hp1 HG00438.hp1 HG02155.hp1 HG03927.hp1 NA18994.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0018 a0001c0001 a0006c0018	a0001c0001t0001 a0006c0018t0001 a0001c0001t0001 a0006c0018t0001	a0001c0001t0001g0254 a0001c0001t0001g0284 a0001c0001t0001g0285 others(2): Show a0001c0001t0001g0254 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0006c0018t0001g0243	5	358	0.0140	-25	c.132 others(44): Show c.1324+4746_1324+4770delGTCGGCGCTGACCACACGCGGGAGC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPHKAP_chr2_227974955_228186687	228080707	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG02071.hp2 others(4): Show HG00558.hp2 HG01106.hp1 HG02071.hp2 HG03831.hp2 NA18522.hp1 NA18982.hp1 NA19081.hp2	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0005c0003 a0010c0011 a0001c0001 a0005c0003 a0010c0011	a0001c0001t0002 a0005c0003t0001 a0005c0003t0002 others(1): Show a0001c0001t0002 a0005c0003t0001 a0005c0003t0002 a0010c0011t0001	a0001c0001t0002g0081 a0005c0003t0001g0171 a0005c0003t0001g0208 others(4): Show a0001c0001t0002g0081 a0005c0003t0001g0171 a0005c0003t0001g0208 a0005c0003t0002g0229 a0005c0003t0002g0250 a0005c0003t0002g0272 a0010c0011t0001g0176	7	322	0.0217	-25	c.246 others(44): Show c.246+28100_246+28124delATTTTATTTTATTTTATTTTATTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228080763	AAAATAAA others(18): Show AAAATAAAATAAAATAAAATAAAACC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp2 HG03130.hp1 HG03130.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0008 a0003c0005t0001 a0001c0001t0008 a0003c0005t0001	a0001c0001t0008g0112 a0003c0005t0001g0286 a0001c0001t0008g0112 a0003c0005t0001g0286	2	322	0.0062	-25	c.246 others(44): Show c.246+28044_246+28068delGGTTTTATTTTATTTTATTTTATTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228092432	TATATATG others(18): Show TATATATGTGCCATATATATGTATAC	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0130 a0004c0004t0003g0130	1	322	0.0031	-25	c.246 others(44): Show c.246+16375_246+16399delGTATACATATATATGGCACATATAT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPIDR_chr8_47255938_47741306	47277313	TTGTTATG others(18): Show TTGTTATGTTATGTTATGTTATGTTA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02615.hp1 HG02809.hp1 others(2): Show HG01978.hp2 HG02615.hp1 HG02809.hp1 HG03486.hp1 HG03710.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0051 a0001c0001t0001g0164 a0001c0001t0001g0203 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0164 a0001c0001t0001g0203 a0004c0004t0002g0122 a0004c0004t0002g0123	5	216	0.0232	-25	c.34- others(40): Show c.34-2507_34-2483delGTTATGTTATGTTATGTTATGTTAT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47331965	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03490.hp1 NA18994.hp1 others(1): Show HG00621.hp1 HG03490.hp1 NA18994.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0197 a0001c0001t0001g0206 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0208	4	216	0.0185	-25	c.525 others(44): Show c.525+37957_525+37981delCTCTTTTTTTTTTTTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47368343	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02723.hp2 HG02300.hp1 HG02723.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0002 a0001c0001t0002 a0004c0004t0002	a0001c0001t0002g0027 a0004c0004t0002g0121 a0001c0001t0002g0027 a0004c0004t0002g0121	2	216	0.0093	-25	c.526 others(44): Show c.526-28016_526-27992delAAAAAAAAAAAAAAAAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47393673	TTTTCCTT others(18): Show TTTTCCTTTCCTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	216	0.0046	-25	c.526 others(42): Show c.526-2665_526-2641delTCCTTTCCTTTCCTTTCCTTTCCTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88405998	TGTGTGTC others(18): Show TGTGTGTCTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03239.hp2 HG04228.hp2 HG02738.hp1 HG03239.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0174 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0174 a0001c0001t0009g0175 a0001c0001t0009g0176	3	176	0.0171	-25	c.-15 others(46): Show c.-159+17461_-159+17485delGTGTGTCTGTGTGTGTGTGTGTGT G	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5			chr9	TogoVar
SPINDOC_chr11_63808456_63832716	63832388	GTCTGAGA others(18): Show GTCTGAGACAAGGGAACAGTCACCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	-25	c.52 others(36): Show c.5250_*5274delTCTGAGACAAGGGAACAGTCACCCC	SPINDOC	ENSG00000168005.9	transcript	ENST00000294244.9	protein_coding		4673		chr11	TogoVar
SPOCK3_chr4_166728384_167239494	167109365	TATATATA others(18): Show TATATATATTTATATAAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00558.hp2 others(58): Show HG00140.hp1 HG00558.hp1 HG00558.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp2 HG01361.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG04115.hp1 HG06807.hp1 NA18906.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp2 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19063.hp2 NA19070.hp2 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0004 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0003 a0001c0005t0014 a0001c0006t0002 a0001c0006t0003 a0002c0004t0002 a0002c0004t0003 a0002c0004t0005 a0002c0009t0003	a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0055 others(58): Show a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0052 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0089 a0001c0001t0002g0103 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0136 a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0001t0003g0047 a0001c0001t0003g0076 a0001c0001t0003g0133 a0001c0001t0006g0033 a0001c0001t0007g0098 a0001c0002t0001g0028 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0097 a0001c0003t0002g0075 a0001c0003t0003g0035 a0001c0005t0003g0007 a0001c0005t0014g0001 a0001c0006t0002g0006 a0001c0006t0003g0005 a0002c0004t0002g0138 a0002c0004t0003g0043 a0002c0004t0003g0137 a0002c0004t0003g0140 a0002c0004t0005g0013 a0002c0004t0005g0040 a0002c0009t0003g0002	61	144	0.4236	-25	c.190 others(44): Show c.190-46853_190-46829delTTATATATTTTATATAAATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON2_chr4_1161932_1177583	1176572	GCATCCAT others(18): Show GCATCCATTCACACAGTACATTCAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01074.hp2 others(31): Show HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01934.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02735.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0003 a0006 a0003 a0006	a0003c0004 a0006c0022 a0003c0004 a0006c0022	a0003c0004t0001 a0006c0022t0001 a0003c0004t0001 a0006c0022t0001	a0003c0004t0001g0004 a0003c0004t0001g0025 a0003c0004t0001g0031 others(5): Show a0003c0004t0001g0004 a0003c0004t0001g0025 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0033 a0003c0004t0001g0034 a0003c0004t0001g0035 a0006c0022t0001g0030	34	432	0.0787	-25	c.-40 others(36): Show c.-4057_-4033delATTGAATGTACTGTGTGAATGGATG	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		3990		chr4	TogoVar
SPON2_chr4_1161932_1177583	1176852	CTTCATTC others(18): Show CTTCATTCATTCATTCACACACTTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03942.hp2 HG03669.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0002 a0001c0001t0001g0052	2	432	0.0046	-25	c.-43 others(36): Show c.-4337_-4313delTGAAGTGTGTGAATGAATGAATGAA	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		4270		chr4	TogoVar
SPON2_chr4_1161932_1177583	1177132	GGAGAGTG others(18): Show GGAGAGTGTGGCTCAAGGCTGTGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0022 a0002c0007t0003g0022	1	432	0.0023	-25	c.-46 others(36): Show c.-4617_-4593delAGCCACAGCCTTGAGCCACACTCTC	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		4550		chr4	TogoVar
SPRED2_chr2_65305851_65437599	65338247	GTCTCCCT others(18): Show GTCTCCCTCTCCCTCTCCCGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02922.hp2 others(2): Show HG02109.hp2 HG02280.hp1 HG02922.hp2 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0203 a0001c0001t0003g0239 a0001c0001t0003g0253 others(2): Show a0001c0001t0003g0203 a0001c0001t0003g0239 a0001c0001t0003g0253 a0001c0001t0007g0209 a0001c0001t0007g0251	5	276	0.0181	-25	c.205 others(42): Show c.205-3499_205-3475delGGGAGACGGGAGAGGGAGAGGGAGA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRTN_chr1_231333293_231360023	231359048	AATAAATT others(18): Show AATAAATTATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	352	0.0028	-25	c.56 others(36): Show c.5688_*5712delATAAATTATATATATATATATATAT	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4026		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155751924	GAAATAAA others(18): Show GAAATAAAATAAAATAAAATAAAATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01081.hp2 others(5): Show HG01069.hp1 HG01071.hp1 HG01081.hp2 HG02922.hp1 HG03195.hp2 HG04115.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 a0001c0001t0042 a0001c0001t0068 a0001c0001t0081	a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0007g0099 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0007g0099 a0001c0001t0018g0033 a0001c0001t0018g0034 a0001c0001t0042g0070 a0001c0001t0068g0206 a0001c0001t0081g0108	8	231	0.0346	-25	c.-28 others(46): Show c.-281-16000_-281-15976delATAAAATAAAATAAAATAAAATAA A	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTLC3_chr20_13003972_13174103	13064282	TTGTTTTG others(18): Show TTGTTTTGTTTTTGTTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18960.hp2 NA18943.hp1 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0122 a0001c0003t0005g0125 a0001c0003t0005g0122 a0001c0003t0005g0125	2	292	0.0069	-25	c.304 others(42): Show c.304-7972_304-7948delGTTTTGTTTTTGTTTTTGTTTTTGT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRBD1_chr2_45383680_45616267	45415667	GGGAGGGG others(18): Show GGGAGGGGAGGGGAGGGGACGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG02257.hp1 others(4): Show HG01069.hp2 HG01074.hp1 HG02257.hp1 HG02258.hp2 HG02602.hp1 HG03486.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0002t0005 a0002c0010t0001 a0002c0002t0001 a0002c0002t0005 a0002c0010t0001	a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0015 others(4): Show a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0005g0022 a0002c0010t0001g0177	7	358	0.0196	-25	c.233 others(44): Show c.2334-2399_2334-2375delTCTCCCGTCCCCTCCCCTCCCCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415677	GGGAGGGG others(18): Show GGGAGGGGACGGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	358	0.0028	-25	c.233 others(44): Show c.2334-2409_2334-2385delTCTCCTCTCCTCTCCCGTCCCCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415723	GGAGAGGA others(18): Show GGAGAGGAGAGGAGACGAGAGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(39): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00558.hp2 HG00621.hp1 HG00733.hp2 HG00735.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02080.hp1 HG02148.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp2 NA18965.hp2 NA18967.hp2 NA18975.hp1 NA18984.hp1 NA19062.hp2 NA19074.hp2 NA19075.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0013 a0001 a0011 a0013	a0001c0001 a0001c0005 a0011c0013 others(1): Show a0001c0001 a0001c0005 a0011c0013 a0013c0012	a0001c0001t0001 a0001c0005t0001 a0011c0013t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0011c0013t0001 a0013c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0137 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0310 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0005t0001g0139 a0001c0005t0001g0141 a0001c0005t0001g0142 a0011c0013t0001g0342 a0013c0012t0001g0162	42	358	0.1173	-25	c.233 others(44): Show c.2334-2455_2334-2431delGTCTCCTCTCGTCTCCTCTCCTCTC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar

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Search Results (Total: 4527 hits)