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 limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ARSG_chr17_68286495_68425814	68372877	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0224 a0002c0002t0002g0224	1	304	0.0033	-15	c.982 others(32): Show c.982+2371_982+2385delTTTTTTTTTTTTTTT		ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68417733	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG03139.hp1 others(1): Show HG02451.hp1 HG02572.hp2 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0013 a0001c0028 a0001c0013 a0001c0028	a0001c0013t0001 a0001c0028t0001 a0001c0013t0001 a0001c0028t0001	a0001c0013t0001g0035 a0001c0013t0001g0045 a0001c0013t0001g0046 others(1): Show a0001c0013t0001g0035 a0001c0013t0001g0045 a0001c0013t0001g0046 a0001c0028t0001g0242	4	304	0.0132	-15	c.130 others(34): Show c.1304-2438_1304-2424delTTTTTTTTTTTTTTT		ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSI_chr5_150291343_150307905	150306790	CAAAATGG others(8): Show CAAAATGGTTAATATG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	456	0.0022	-15	c.-44 others(26): Show c.-4432_-4418delCATATTAACCATTTT		ARSI	ENSG00000183876.9	transcript	ENST00000328668.8	protein_coding					3886		chr5	TogoVar
ARSK_chr5_95550101_95610102	95554710	ACCTGAGG others(8): Show ACCTGAGGCGGTCCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01099.hp1 others(34): Show HG00642.hp2 HG00733.hp2 HG01099.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA20300.hp1 NA20752.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0016 a0004c0009 others(1): Show a0001c0001 a0001c0016 a0004c0009 a0005c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0016t0002 a0004c0009t0002 a0005c0007t0002	a0001c0001t0002g0008 a0001c0001t0002g0029 a0001c0001t0002g0030 others(27): Show a0001c0001t0002g0008 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0186 a0001c0001t0004g0033 a0001c0001t0004g0133 a0001c0001t0007g0170 a0001c0016t0002g0135 a0004c0009t0002g0032 a0005c0007t0002g0030 a0005c0007t0002g0109	37	336	0.1101	-15	c.-56 others(24): Show c.-568_-554delCCTGAGGCGGTCCAC		ARSK	ENSG00000164291.17	transcript	ENST00000380009.9	protein_coding					390		chr5	TogoVar
ARSL_chrX_2929521_2969341	2946505	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	328	0.0031	-15	c.855 others(30): Show c.855-386_855-372delAAAAAAAAAAAAAAA		ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	6/10						chrX	TogoVar
ARV1_chr1_230974094_231005733	230986668	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02965.hp1 others(2): Show HG01167.hp1 HG01169.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0044 a0002c0002t0001g0087 a0001c0001t0001g0038 a0001c0001t0001g0044 a0002c0002t0001g0087	5	402	0.0124	-15	c.175 others(32): Show c.175-1628_175-1614delTTTTTTTTTTTTTTT		ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
AR_chrX_67539021_67735619	67545316	TGCAGCAG others(8): Show TGCAGCAGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02647.hp1 HG02896.hp1 HG02965.hp1 others(8): Show HG02647.hp1 HG02896.hp1 HG02965.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03942.hp1 NA19082.hp1 NA19091.hp1	a0006 a0023 a0038 others(2): Show a0006 a0023 a0038 a0039 a0040	a0006c0015 a0006c0016 a0023c0022 others(3): Show a0006c0015 a0006c0016 a0023c0022 a0038c0038 a0039c0040 a0040c0039	a0006c0015t0007 a0006c0016t0002 a0006c0016t0003 others(6): Show a0006c0015t0007 a0006c0016t0002 a0006c0016t0003 a0006c0016t0031 a0023c0022t0028 a0023c0022t0043 a0038c0038t0047 a0039c0040t0001 a0040c0039t0011	a0006c0015t0007g0139 a0006c0015t0007g0140 a0006c0015t0007g0142 others(8): Show a0006c0015t0007g0139 a0006c0015t0007g0140 a0006c0015t0007g0142 a0006c0016t0002g0023 a0006c0016t0003g0050 a0006c0016t0031g0007 a0023c0022t0028g0141 a0023c0022t0043g0138 a0038c0038t0047g0113 a0039c0040t0001g0060 a0040c0039t0011g0157	11	193	0.0570	-15	c.225 others(22): Show c.225_239delGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln76_Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1351/10667	225/2763	75/920		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	TGGCGGCG others(8): Show TGGCGGCGGCGGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 NA19085.hp1 NA19088.hp1 others(1): Show HG00280.hp1 NA19085.hp1 NA19088.hp1 NA20129.hp1	a0027 a0049 a0061 a0027 a0049 a0061	a0027c0027 a0049c0055 a0061c0071 a0027c0027 a0049c0055 a0061c0071	a0027c0027t0014 a0027c0027t0051 a0049c0055t0001 others(1): Show a0027c0027t0014 a0027c0027t0051 a0049c0055t0001 a0061c0071t0055	a0027c0027t0014g0087 a0027c0027t0051g0179 a0049c0055t0001g0125 others(1): Show a0027c0027t0014g0087 a0027c0027t0051g0179 a0049c0055t0001g0125 a0061c0071t0055g0086	4	193	0.0207	-15	c.140 others(24): Show c.1406_1420delGCGGCGGCGGCGGCG	p.Gly others(13): Show p.Gly469_Gly473del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2532/10667	1406/2763	469/920		INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102885495	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG03017.hp2 others(2): Show HG00280.hp1 HG01081.hp1 HG03017.hp2 NA18961.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0203 a0001c0001t0001g0232 others(2): Show a0001c0001t0001g0086 a0001c0001t0001g0203 a0001c0001t0001g0232 a0001c0001t0001g0276 a0001c0001t0001g0294	5	362	0.0138	-15	c.886 others(32): Show c.886-5011_886-4997delTTTTTTTTTTTTTTT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102888867	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	362	0.0028	-15	c.886 others(32): Show c.886-1675_886-1661delATATATATATATATT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102888869	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0142 a0001c0001t0015g0142	1	362	0.0028	-15	c.886 others(32): Show c.886-1673_886-1659delATATATATATATTTT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50747968	TTTAAATA others(8): Show TTTAAATATTTGATTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(134): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02273.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02698.hp1 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(14): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0073	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0024 a0001c0001t0007g0085 a0001c0001t0007g0098 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0020g0010 a0001c0001t0023g0001 a0001c0001t0037g0106 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0041g0001 a0001c0001t0042g0044 a0001c0001t0043g0001 a0001c0001t0044g0036 a0001c0001t0045g0001 a0001c0001t0046g0012 a0001c0001t0049g0001 a0001c0001t0073g0001	137	414	0.3309	-15	c.145 others(32): Show c.145-1374_145-1360delTTAAATATTTGATTG		ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/5						chr10	TogoVar
ASAP1_chr8_130047104_130448674	130097126	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02723.hp1 HG03195.hp2 others(1): Show HG01496.hp2 HG02723.hp1 HG03195.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0012 a0004c0012t0027 a0001c0001t0012 a0004c0012t0027	a0001c0001t0012g0295 a0001c0001t0012g0296 a0001c0001t0012g0298 others(1): Show a0001c0001t0012g0295 a0001c0001t0012g0296 a0001c0001t0012g0298 a0004c0012t0027g0233	4	308	0.0130	-15	c.240 others(34): Show c.2402-4998_2402-4984delTTTTTTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130151370	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00544.hp1 others(53): Show HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00738.hp2 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG02004.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02165.hp2 HG02300.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02886.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp2 HG03540.hp1 HG03669.hp1 HG03942.hp2 HG04228.hp1 NA18906.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18985.hp1 NA18994.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0002c0003 a0002c0011	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0005t0001 a0001c0005t0005 a0001c0005t0007 a0001c0006t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0003t0001 a0002c0003t0010 a0002c0011t0001	a0001c0001t0001g0016 a0001c0001t0001g0158 a0001c0001t0001g0227 others(53): Show a0001c0001t0001g0016 a0001c0001t0001g0158 a0001c0001t0001g0227 a0001c0001t0001g0261 a0001c0001t0009g0008 a0001c0001t0011g0015 a0001c0005t0001g0166 a0001c0005t0005g0285 a0001c0005t0007g0002 a0001c0005t0007g0003 a0001c0006t0005g0292 a0001c0006t0005g0293 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0100 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0160 a0002c0002t0001g0200 a0002c0002t0001g0234 a0002c0002t0001g0240 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0002g0033 a0002c0002t0002g0265 a0002c0002t0002g0270 a0002c0002t0003g0123 a0002c0002t0003g0139 a0002c0003t0001g0019 a0002c0003t0001g0023 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0010g0018 a0002c0011t0001g0074	56	308	0.1818	-15	c.108 others(34): Show c.1080+1351_1080+1365delTTTTTTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	13/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130178281	GAATACAG others(8): Show GAATACAGACTTTACT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	308	0.0033	-15	c.746 others(30): Show c.746+968_746+982delAGTAAAGTCTGTATT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	9/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130215975	AAAAGGAA others(8): Show AAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01943.hp2 HG03017.hp2 others(2): Show HG01175.hp2 HG01943.hp2 HG03017.hp2 NA19091.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0001 a0001c0001t0009 a0002c0002t0001	a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 others(2): Show a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 a0001c0001t0009g0008 a0002c0002t0001g0075	5	308	0.0162	-15	c.260 others(32): Show c.260-1289_260-1275delCCTTTCCTTTCCTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	4/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130262413	AAAAAGAG others(8): Show AAAAAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	308	0.0033	-15	c.187 others(34): Show c.187-25434_187-25420delCTCTCTCTCTCTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130394180	TGAGCTGG others(8): Show TGAGCTGGGCGGAACA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0242 a0002c0002t0022g0242	1	308	0.0033	-15	c.59+ others(30): Show c.59+7690_59+7704delTGTTCCGCCCAGCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	2/29						chr8	TogoVar
ASAP2_chr2_9201812_9410678	9221264	ATCTATCA others(8): Show ATCTATCATAACCTCT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	210	0.0048	-15	c.126 others(34): Show c.126+14041_126+14055delATAACCTCTTCTATC		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9229346	CCACCTCT others(8): Show CCACCTCTGTTGTCTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0199 a0001c0003t0007g0199	1	210	0.0048	-15	c.126 others(34): Show c.126+22121_126+22135delTCTGTTGTCTTCACC		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9234256	CAGCTTCC others(8): Show CAGCTTCCTAAGCTTG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0099 a0002c0001t0003g0099	1	210	0.0048	-15	c.126 others(34): Show c.126+27037_126+27051delGCTTGAGCTTCCTAA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB11_chrX_15276697_15320640	15281108	ATCGCTTG others(8): Show ATCGCTTGAACCTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0046 a0001c0001t0027g0046	1	306	0.0033	-15	c.23 others(26): Show c.2382_*2396delCCCAGGTTCAAGCGA		ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding					588		chrX	TogoVar
ASB13_chr10_5633867_5671595	5648545	CCCACTCA others(8): Show CCCACTCAGGTAAACA	C C	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	446	0.0022	-15	c.517 others(30): Show c.517+410_517+424delTGTTTACCTGAGTGG		ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	4/5						chr10	TogoVar
ASB13_chr10_5633867_5671595	5652022	AAAACCAC others(8): Show AAAACCACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01952.hp1 HG01978.hp2 others(4): Show HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02738.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0042 a0001c0001t0003g0124 a0001c0001t0003g0125 others(4): Show a0001c0001t0003g0042 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0221 a0001c0001t0003g0350 a0001c0001t0008g0127	7	446	0.0157	-15	c.232 others(30): Show c.232-674_232-660delGTGTGTGTGTGGTTT		ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	2/5						chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	GGAGAAGA others(8): Show GGAGAAGAGAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG00733.hp1 others(18): Show HG00558.hp1 HG00639.hp2 HG00733.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01361.hp1 HG02129.hp2 HG02145.hp1 HG03130.hp1 HG03490.hp1 HG03492.hp2 HG06807.hp1 NA18522.hp1 NA18944.hp1 NA18948.hp2 NA18991.hp2 NA19065.hp2 NA19068.hp1 NA19080.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0023 a0001c0001t0041 a0005c0008t0001	a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0284 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0284 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0003g0282 a0001c0001t0003g0288 a0001c0001t0004g0002 a0001c0001t0005g0281 a0001c0001t0011g0285 a0001c0001t0017g0289 a0001c0001t0017g0291 a0001c0001t0023g0278 a0001c0001t0041g0421 a0005c0008t0001g0030	21	446	0.0471	-15	c.43+ others(30): Show c.43+3929_43+3943delTTCTCTTCTCTTCTC		ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5						chr10	TogoVar
ASB15_chr7_123596821_123644481	123620540	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0195 a0003c0006t0007g0195	1	380	0.0026	-15	c.451 others(32): Show c.451+2805_451+2819delATATATATATATATT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620542	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0227 a0002c0003t0002g0227	1	380	0.0026	-15	c.451 others(32): Show c.451+2807_451+2821delATATATATATATTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620544	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0252 a0003c0005t0002g0252	1	380	0.0026	-15	c.451 others(32): Show c.451+2809_451+2823delATATATATATTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176218307	TATATATA others(8): Show TATATATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02572.hp2 HG02647.hp2 HG02015.hp1 HG02572.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0245 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0245	3	410	0.0073	-15	c.671 others(32): Show c.671-1313_671-1299delCATACAAATATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176218332	TTTGTATG others(8): Show TTTGTATGATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01496.hp1 HG01928.hp2 others(2): Show HG00735.hp1 HG01496.hp1 HG01928.hp2 HG02004.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0044 a0001c0002t0003g0047 a0001c0002t0003g0049 others(2): Show a0001c0002t0003g0044 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0051 a0001c0002t0003g0058	5	410	0.0122	-15	c.671 others(32): Show c.671-1338_671-1324delTTATATATCATACAA		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176218493	TATATATA others(8): Show TATATATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01496.hp1 HG01928.hp2 others(3): Show HG00735.hp1 HG01496.hp1 HG01928.hp2 HG02004.hp2 HG03942.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0137 a0001c0002t0003g0044 a0001c0002t0003g0047 others(3): Show a0001c0001t0001g0137 a0001c0002t0003g0044 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0051 a0001c0002t0003g0058	6	410	0.0146	-15	c.671 others(32): Show c.671-1499_671-1485delCATACAAATATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176219556	AATATGTA others(8): Show AATATGTATATATTTG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	410	0.0024	-15	c.670 others(32): Show c.670+1584_670+1598delCAAATATATACATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176219560	TGTATATA others(8): Show TGTATATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02074.hp2 HG02083.hp1 others(7): Show HG00140.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp1 NA18747.hp1 NA18951.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0062 a0001c0001t0001g0067 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0209	10	410	0.0244	-15	c.670 others(32): Show c.670+1580_670+1594delCATACAAATATATAC		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB7_chr15_100597589_100656701	100603145	GCCCCTTT others(8): Show GCCCCTTTCCTGAGCT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02055.hp1 others(2): Show HG01167.hp2 HG01169.hp1 HG02055.hp1 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0012 a0001c0001t0004g0034 a0001c0001t0004g0035 others(1): Show a0001c0001t0002g0012 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036	5	368	0.0136	-15	c.-27 others(30): Show c.-272-65_-272-51delTTTCCTGAGCTCCCC		ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
ASB7_chr15_100597589_100656701	100633645	AGAAGGAA others(8): Show AGAAGGAAGGAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02723.hp1 HG02896.hp1 others(3): Show HG01069.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0078 a0001c0001t0002g0207 a0001c0001t0006g0061 others(3): Show a0001c0001t0001g0078 a0001c0001t0002g0207 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0014g0208 a0001c0001t0014g0209	6	368	0.0163	-15	c.817 others(32): Show c.817+3631_817+3645delAAGGAAGGAAGGAGG		ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
ASB7_chr15_100597589_100656701	100643477	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18965.hp2 NA19002.hp1 others(1): Show NA18940.hp1 NA18965.hp2 NA19002.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0091 a0001c0001t0009g0284 a0001c0001t0009g0031 a0001c0001t0009g0091 a0001c0001t0009g0284	4	368	0.0109	-15	c.818 others(32): Show c.818-4834_818-4820delTTTTTTTTTTTTTTT		ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
ASCC1_chr10_72091032_72221276	72110923	ATCAACTA others(8): Show ATCAACTAAGTTATTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	1	216	0.0046	-15	c.958 others(34): Show c.958-13488_958-13474delAAATAACTTAGTTGA		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	9/9						chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218166	ATATATAT others(8): Show ATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	216	0.0046	-15	c.-20 others(26): Show c.-2008_-1994delATATATATATATATA		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1891		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100608475	TACTTTAT others(8): Show TACTTTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18946.hp1 NA19004.hp1 HG06807.hp2 NA18946.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0088 a0001c0002t0003g0100 a0001c0002t0003g0129 a0001c0002t0002g0088 a0001c0002t0003g0100 a0001c0002t0003g0129	3	314	0.0096	-15	c.478 others(34): Show c.4786-1402_4786-1388delGTATATATATAAAGT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608531	TACTTTAT others(8): Show TACTTTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01168.hp1 others(2): Show HG01071.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG02109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0002 a0003c0005t0001 a0003c0005t0002	a0003c0005t0001g0285 a0003c0005t0002g0131 a0003c0005t0002g0150 others(2): Show a0003c0005t0001g0285 a0003c0005t0002g0131 a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0152	5	314	0.0159	-15	c.478 others(34): Show c.4786-1458_4786-1444delGTATATATATAAAGT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCL5_chr1_201108943_201132184	201130685	GACCCTGT others(8): Show GACCCTGTCTCTACTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	-15	c.-41 others(26): Show c.-4122_-4108delTAGTAGAGACAGGGT		ASCL5	ENSG00000232237.5	transcript	ENST00000449188.3	protein_coding					3502		chr1	TogoVar
ASDURF_chr2_189656459_189671401	189665610	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	340	0.0029	-15	c.220 others(30): Show c.220+160_220+174delTATATATATATATAT		ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3						chr2	TogoVar
ASDURF_chr2_189656459_189671401	189665637	TATATATA others(8): Show TATATATATATTATAA	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	340	0.0029	-15	c.220 others(30): Show c.220+189_220+203delATATATATTATAAAT		ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASGR2_chr17_7096326_7119822	7118489	AAGGAAGG others(8): Show AAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0203 a0001c0003t0001g0203	1	432	0.0023	-15	c.-39 others(26): Show c.-3960_-3946delCCTTCCTTCCTTCCT		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3668		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155490968	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01099.hp1 HG01192.hp2 others(13): Show HG00408.hp2 HG01099.hp1 HG01192.hp2 HG01516.hp1 HG02074.hp2 HG02129.hp1 HG02683.hp1 HG02809.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp1 NA18951.hp2 NA18977.hp2 NA18983.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 others(13): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0155	16	182	0.0879	-15	c.421 others(32): Show c.421-8534_421-8520delTTTTTTTTTTTTTTT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27						chr1	TogoVar
ASIC2_chr17_33008087_33298295	33008767	CAGGGTTG others(8): Show CAGGGTTGGGTCCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01433.hp1 HG01515.hp2 others(8): Show HG01192.hp2 HG01433.hp1 HG01515.hp2 HG02572.hp2 HG02622.hp2 HG02738.hp1 HG03041.hp2 HG03516.hp2 HG03704.hp1 NA19030.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0006 a0001c0001t0009 a0001c0002t0005 others(5): Show a0001c0001t0006 a0001c0001t0009 a0001c0002t0005 a0001c0002t0015 a0001c0004t0001 a0001c0004t0005 a0001c0004t0008 a0002c0003t0008	a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0050 others(8): Show a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0050 a0001c0001t0009g0061 a0001c0002t0005g0101 a0001c0002t0005g0103 a0001c0002t0015g0087 a0001c0004t0001g0159 a0001c0004t0005g0146 a0001c0004t0008g0154 a0002c0003t0008g0183	11	240	0.0458	-15	c.51 others(26): Show c.5183_*5197delATAGGACCCAACCCT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding					4319		chr17	TogoVar
ASIC2_chr17_33008087_33298295	33018284	ACCCCTGC others(8): Show ACCCCTGCATCCAACT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00741.hp1 others(40): Show HG00280.hp1 HG00438.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01496.hp2 HG02015.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp2 HG02698.hp1 HG02738.hp1 HG02896.hp2 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18906.hp1 NA18943.hp2 NA18983.hp1 NA19030.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19088.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(15): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0024 a0001c0001t0034 a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 a0001c0002t0017 a0001c0002t0025 a0001c0002t0032 a0001c0004t0001 a0001c0004t0010 a0001c0007t0003 a0002c0003t0001 a0002c0003t0005 a0002c0003t0010 a0002c0003t0017	a0001c0001t0003g0020 a0001c0001t0003g0030 a0001c0001t0003g0031 others(40): Show a0001c0001t0003g0020 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0053 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0007g0227 a0001c0001t0007g0228 a0001c0001t0007g0235 a0001c0001t0009g0073 a0001c0001t0024g0085 a0001c0001t0034g0229 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0124 a0001c0002t0005g0096 a0001c0002t0010g0134 a0001c0002t0017g0109 a0001c0002t0025g0088 a0001c0002t0032g0223 a0001c0004t0001g0153 a0001c0004t0001g0159 a0001c0004t0001g0169 a0001c0004t0001g0174 a0001c0004t0010g0145 a0001c0004t0010g0151 a0001c0007t0003g0048 a0002c0003t0001g0190 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0003t0001g0200 a0002c0003t0001g0215 a0002c0003t0001g0219 a0002c0003t0005g0182 a0002c0003t0005g0184 a0002c0003t0005g0205 a0002c0003t0005g0210 a0002c0003t0005g0221 a0002c0003t0010g0207 a0002c0003t0017g0206	43	240	0.1792	-15	c.144 others(32): Show c.1442-615_1442-601delAGTTGGATGCAGGGG		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	7/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33068528	TCAAAACA others(8): Show TCAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	240	0.0042	-15	c.987 others(34): Show c.987+20320_987+20334delTTTTGTTTTGTTTTG		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33192384	AAAAACAA others(8): Show AAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp1 HG01069.hp2 others(43): Show HG00621.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01192.hp2 HG01515.hp2 HG02015.hp1 HG02055.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp2 HG03834.hp2 HG06807.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18960.hp2 NA18980.hp2 NA18999.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19081.hp2 NA19088.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(23): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0015 a0001c0002t0017 a0001c0002t0025 a0001c0002t0028 a0001c0002t0032 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0010 a0001c0006t0012 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 others(43): Show a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0020 a0001c0001t0003g0038 a0001c0001t0004g0011 a0001c0001t0004g0019 a0001c0001t0004g0023 a0001c0001t0004g0069 a0001c0001t0006g0050 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0007g0224 a0001c0001t0009g0073 a0001c0001t0009g0075 a0001c0001t0013g0051 a0001c0001t0019g0225 a0001c0001t0019g0232 a0001c0001t0034g0229 a0001c0001t0035g0226 a0001c0002t0001g0097 a0001c0002t0001g0121 a0001c0002t0002g0099 a0001c0002t0002g0139 a0001c0002t0005g0094 a0001c0002t0005g0096 a0001c0002t0005g0103 a0001c0002t0015g0090 a0001c0002t0017g0109 a0001c0002t0025g0088 a0001c0002t0028g0105 a0001c0002t0032g0223 a0001c0004t0001g0162 a0001c0004t0002g0152 a0001c0004t0002g0164 a0001c0004t0002g0166 a0001c0004t0002g0172 a0001c0004t0005g0144 a0001c0004t0010g0145 a0001c0006t0012g0091 a0002c0003t0001g0211 a0002c0003t0001g0215 a0002c0003t0002g0178 a0002c0003t0002g0204 a0002c0003t0005g0221 a0002c0003t0008g0183	46	240	0.1917	-15	c.709 others(34): Show c.709-80332_709-80318delGTTTTGTTTTGTTTT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33232431	TATGGTAT others(8): Show TATGGTATGGTATGGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0004 a0003c0008t0004	a0003c0008t0004g0037 a0003c0008t0004g0037	1	240	0.0042	-15	c.708 others(34): Show c.708+58962_708+58976delTCCATACCATACCAT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar

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