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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARV1_chr1_230974094_231005733	230984359	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01106.hp2 others(8): Show HG00140.hp2 HG00735.hp2 HG01106.hp2 HG01891.hp1 HG02683.hp2 HG02738.hp1 HG03669.hp2 HG04228.hp1 NA18978.hp2 NA18989.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0249	11	402	0.0274	16	c.175 others(33): Show c.175-3958_175-3957insTGTGTGTGTGCGCGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984365	T T	TGTGTGTG others(9): Show TGTGTGTGTGCGCGTGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	402	0.0025	16	c.175 others(33): Show c.175-3946_175-3945insCGCGTGCGTGTGTGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230986668	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	402	0.0025	16	c.175 others(33): Show c.175-1629_175-1614dupTTTTTTTTTTTTTTTT	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARX_chrX_24998694_25020965	25018639	T T	TTATATAT others(9): Show TTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG03927.hp1 HG03927.hp2 others(2): Show HG02683.hp2 HG03927.hp1 HG03927.hp2 NA18959.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0040 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0002g0002	5	300	0.0167	16	c.-29 others(27): Show c.-2903_-2902insTATATATATATATATA	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		2675		chrX	TogoVar
ARX_chrX_24998694_25020965	25018662	T T	TATATATA others(9): Show TATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02922.hp2 HG01074.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0009 a0001c0001t0002g0012	2	300	0.0067	16	c.-29 others(27): Show c.-2926_-2925insTTATATATATATATAT	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		2698		chrX	TogoVar
AR_chrX_67539021_67735619	67604198	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp2 HG03540.hp2 HG02717.hp1 HG02896.hp2 HG03540.hp2	a0015 a0018 a0054 a0015 a0018 a0054	a0015c0010 a0018c0029 a0054c0063 a0015c0010 a0018c0029 a0054c0063	a0015c0010t0004 a0018c0029t0004 a0054c0063t0004 a0015c0010t0004 a0018c0029t0004 a0054c0063t0004	a0015c0010t0004g0176 a0018c0029t0004g0182 a0054c0063t0004g0181 a0015c0010t0004g0176 a0018c0029t0004g0182 a0054c0063t0004g0181	3	193	0.0155	16	c.161 others(37): Show c.1617-39026_1617-39011dupGTGTGTGTGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723312	C C	CTCTGTGT others(9): Show CTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG03041.hp1 others(3): Show HG02572.hp1 HG02976.hp2 HG03041.hp1 HG04199.hp1 NA18522.hp1 NA21309.hp2	a0009 a0010 a0012 others(2): Show a0009 a0010 a0012 a0018 a0052	a0009c0025 a0010c0079 a0012c0011 others(2): Show a0009c0025 a0010c0079 a0012c0011 a0018c0066 a0052c0059	a0009c0025t0004 a0010c0079t0006 a0012c0011t0066 others(2): Show a0009c0025t0004 a0010c0079t0006 a0012c0011t0066 a0018c0066t0004 a0052c0059t0029	a0009c0025t0004g0150 a0009c0025t0004g0164 a0010c0079t0006g0119 others(3): Show a0009c0025t0004g0150 a0009c0025t0004g0164 a0010c0079t0006g0119 a0012c0011t0066g0117 a0018c0066t0004g0149 a0052c0059t0029g0134	6	193	0.0311	16	c.260 others(33): Show c.2607+329_2607+330insCTGTGTGTGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67728574	A A	AATATATA others(9): Show AATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0026 a0007c0006t0026	a0007c0006t0026g0094 a0007c0006t0026g0094	1	193	0.0052	16	c.47 others(27): Show c.4759_*4774dupTATATATATATATATA	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	8/8	4775	INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102889607	T T	TCTGCCTG others(9): Show TCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	362	0.0028	16	c.886 others(31): Show c.886-927_886-926insGCCTGCCTGCCTGCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTTCCT others(9): Show GCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	362	0.0028	16	c.886 others(31): Show c.886-913_886-898dupCCTTCCTTCCTTCCTT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906272	A A	AATATATA others(9): Show AATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 NA18983.hp1 HG02970.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0004 a0001c0001t0008 a0001c0002t0004	a0001c0001t0008g0050 a0001c0002t0004g0029 a0001c0001t0008g0050 a0001c0002t0004g0029	2	362	0.0055	16	c.55 others(27): Show c.5572_*5573insATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4374		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906274	A A	AATATATA others(9): Show AATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG02135.hp1 others(1): Show HG01167.hp1 HG02055.hp1 HG02135.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016	a0001c0001t0006g0172 a0001c0001t0008g0043 a0001c0001t0012g0151 others(1): Show a0001c0001t0006g0172 a0001c0001t0008g0043 a0001c0001t0012g0151 a0001c0001t0016g0052	4	362	0.0111	16	c.55 others(27): Show c.5574_*5575insATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4376		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0118 a0001c0001t0007g0118	1	362	0.0028	16	c.55 others(27): Show c.5576_*5577insAAAAAAAAATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG03834.hp1 NA18954.hp2 others(3): Show HG00673.hp2 HG03834.hp1 NA18954.hp2 NA19054.hp1 NA19058.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0002t0004	a0001c0001t0002g0007 a0001c0001t0002g0112 a0001c0001t0002g0155 others(3): Show a0001c0001t0002g0007 a0001c0001t0002g0112 a0001c0001t0002g0155 a0001c0001t0008g0049 a0001c0001t0015g0152 a0001c0002t0004g0028	6	362	0.0166	16	c.55 others(27): Show c.5576_*5577insAAAAATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAATTA others(9): Show AAAAATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0162 a0001c0004t0007g0162	1	362	0.0028	16	c.55 others(27): Show c.5576_*5577insAAAATTATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAATATA others(9): Show AAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02622.hp1 NA18961.hp1 others(1): Show HG00544.hp1 HG02622.hp1 NA18961.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0009 a0001c0001t0002g0140 a0001c0001t0002g0153 others(1): Show a0001c0001t0002g0009 a0001c0001t0002g0140 a0001c0001t0002g0153 a0001c0001t0006g0170	4	362	0.0111	16	c.55 others(27): Show c.5576_*5577insAAATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AATATATA others(9): Show AATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18988.hp1 NA18992.hp1 others(2): Show NA18974.hp2 NA18988.hp1 NA18992.hp1 NA19064.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0029 a0001c0001t0002 a0001c0001t0015 a0001c0001t0029	a0001c0001t0002g0003 a0001c0001t0002g0148 a0001c0001t0002g0149 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0015g0142 a0001c0001t0029g0182	5	362	0.0138	16	c.55 others(27): Show c.5576_*5577insATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50759188	G G	GAGACTCT others(9): Show GAGACTCTTCCCCTATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(280): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0072 a0001c0001t0073 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(103): 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 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0024 a0001c0001t0007g0085 a0001c0001t0007g0098 a0001c0001t0008g0002 a0001c0001t0008g0116 a0001c0001t0008g0126 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0004 a0001c0001t0012g0016 a0001c0001t0013g0002 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0018g0025 a0001c0001t0019g0002 a0001c0001t0019g0011 a0001c0001t0019g0117 a0001c0001t0022g0004 a0001c0001t0023g0001 a0001c0001t0025g0004 a0001c0001t0025g0014 a0001c0001t0027g0059 a0001c0001t0027g0060 a0001c0001t0035g0114 a0001c0001t0037g0106 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0040g0079 a0001c0001t0041g0001 a0001c0001t0042g0044 a0001c0001t0043g0001 a0001c0001t0044g0036 a0001c0001t0045g0001 a0001c0001t0046g0012 a0001c0001t0047g0081 a0001c0001t0048g0111 a0001c0001t0049g0001 a0001c0001t0050g0122 a0001c0001t0051g0002 a0001c0001t0052g0015 a0001c0001t0053g0002 a0001c0001t0072g0019 a0001c0001t0073g0001 a0001c0003t0002g0002	283	414	0.6836	16	c.44 others(27): Show c.4449_*4450insGACTCTTCCCCTATAA	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	6/6	4450	INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2_chr10_50179861_50256516	50212182	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19006.hp2 NA19075.hp2 HG03710.hp1 NA19006.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0053 a0001c0002t0022 a0001c0002t0053	a0001c0002t0022g0073 a0001c0002t0022g0087 a0001c0002t0053g0078 a0001c0002t0022g0073 a0001c0002t0022g0087 a0001c0002t0053g0078	3	408	0.0074	16	c.122 others(33): Show c.1227+774_1227+789dupGTGTGTGTGTGTGTGT	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	10/20			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130071009	G G	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp2 NA18973.hp2 HG02258.hp2 HG03540.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0241 a0001c0001t0001g0260 a0001c0001t0001g0020 a0001c0001t0001g0241 a0001c0001t0001g0260	3	308	0.0097	16	c.270 others(35): Show c.2701+5338_2701+5339insTCTCTCTCTCTCTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072790	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0263 a0001c0001t0021g0263	1	308	0.0033	16	c.270 others(35): Show c.2701+3557_2701+3558insACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGCG others(9): Show TGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	308	0.0033	16	c.270 others(35): Show c.2701+3523_2701+3524insGCGCGCGCGCGCACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(9): Show TGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03704.hp1 HG03130.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0171 a0001c0001t0002g0168 a0001c0001t0001g0171 a0001c0001t0002g0168	2	308	0.0065	16	c.270 others(35): Show c.2701+3523_2701+3524insGCGCGCGCACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02258.hp1 HG02630.hp1 others(5): Show HG01261.hp2 HG02258.hp1 HG02630.hp1 HG02970.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0165 others(5): Show a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0201 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0224	8	308	0.0260	16	c.270 others(35): Show c.2701+3523_2701+3524insGCGCACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01975.hp1 HG02155.hp2 others(5): Show HG00642.hp2 HG01975.hp1 HG02155.hp2 HG03831.hp2 NA18982.hp2 NA19001.hp1 NA19063.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0030 a0001c0001t0031	a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0051 others(5): Show a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0010g0043 a0001c0001t0011g0045 a0001c0001t0014g0153 a0001c0001t0030g0046 a0001c0001t0031g0289	8	308	0.0260	16	c.240 others(35): Show c.2402-9605_2402-9590dupAAAAAAAAAAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130217537	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02300.hp1 HG02523.hp1 others(4): Show HG02027.hp1 HG02300.hp1 HG02523.hp1 NA18942.hp1 NA18957.hp2 NA18998.hp1 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0020 a0002c0002t0003 a0002c0002t0020	a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0264 others(4): Show a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0264 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0020g0299	7	308	0.0227	16	c.260 others(33): Show c.260-2852_260-2837dupGTGTGTGTGTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	4/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130262416	A A	AAAAAAAA others(9): Show AAAAAAAAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0293 a0001c0006t0005g0293	1	308	0.0033	16	c.187 others(35): Show c.187-25423_187-25422insCTCTCTCTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276722	A A	ACTCTCTC others(9): Show ACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp1 HG02886.hp2 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0007 a0001c0005t0005 a0001c0005t0007	a0001c0005t0005g0285 a0001c0005t0007g0002 a0001c0005t0005g0285 a0001c0005t0007g0002	2	308	0.0065	16	c.187 others(35): Show c.187-39729_187-39728insAGAGAGAGAGAGAGAG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(9): Show ACACACACACACACACT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	308	0.0033	16	c.187 others(35): Show c.187-39735_187-39734insAGTGTGTGTGTGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(9): Show ACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0270 a0002c0002t0002g0270	1	308	0.0033	16	c.187 others(35): Show c.187-39735_187-39734insAGAGAGTGTGTGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(9): Show ACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03942.hp2 HG03669.hp1 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0146 a0002c0002t0001g0064 a0002c0002t0001g0146	2	308	0.0065	16	c.187 others(35): Show c.187-39735_187-39734insAGAGAGAGTGTGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(9): Show ACACACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01168.hp2 HG01169.hp2 others(10): Show HG00735.hp1 HG01168.hp2 HG01169.hp2 HG01993.hp1 HG02027.hp1 HG02056.hp2 HG04199.hp1 NA18952.hp2 NA18963.hp2 NA18964.hp1 NA18984.hp1 NA19005.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0002c0002t0004 others(2): Show a0001c0001t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0002c0002t0020	a0001c0001t0002g0175 a0002c0002t0003g0109 a0002c0002t0003g0110 others(10): Show a0001c0001t0002g0175 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0113 a0002c0002t0003g0123 a0002c0002t0003g0129 a0002c0002t0003g0134 a0002c0002t0003g0252 a0002c0002t0004g0107 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0015g0116 a0002c0002t0020g0299	13	308	0.0422	16	c.187 others(35): Show c.187-39735_187-39734insAGAGAGAGAGTGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACTC others(9): Show ACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01258.hp2 HG02056.hp1 others(4): Show HG00544.hp2 HG01258.hp2 HG02056.hp1 HG02083.hp2 HG04204.hp1 NA18942.hp1 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0020 a0002c0002t0003 a0002c0002t0004 a0002c0002t0020	a0002c0002t0003g0131 a0002c0002t0003g0249 a0002c0002t0003g0262 others(4): Show a0002c0002t0003g0131 a0002c0002t0003g0249 a0002c0002t0003g0262 a0002c0002t0003g0264 a0002c0002t0003g0282 a0002c0002t0004g0112 a0002c0002t0020g0300	7	308	0.0227	16	c.187 others(35): Show c.187-39735_187-39734insAGAGAGAGAGAGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACTCTC others(9): Show ACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18969.hp2 NA18955.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0117 a0002c0002t0003g0259 a0002c0002t0003g0117 a0002c0002t0003g0259	2	308	0.0065	16	c.187 others(35): Show c.187-39735_187-39734insAGAGAGAGAGAGAGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276760	T T	TCTCTCTC others(9): Show TCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	308	0.0033	16	c.187 others(35): Show c.187-39767_187-39766insGGAGAGAGAGAGAGAG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300113	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	308	0.0033	16	c.186 others(35): Show c.186+57888_186+57903dupGTGTGTGTGTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300147	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02258.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0020 a0001c0001t0001g0039	2	308	0.0065	16	c.186 others(35): Show c.186+57869_186+57870insCTCTCTCTCTCTCTCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300151	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19240.hp1 HG02155.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0031 a0001c0007t0007 a0001c0001t0031 a0001c0007t0007	a0001c0001t0031g0289 a0001c0007t0007g0001 a0001c0001t0031g0289 a0001c0007t0007g0001	2	308	0.0065	16	c.186 others(35): Show c.186+57865_186+57866insCTCTCTCTCTCTCTCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACACACA others(9): Show CACACACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0059 a0002c0002t0003g0059	1	308	0.0033	16	c.186 others(35): Show c.186+57863_186+57864insCTCTCTCTCTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACAGAGA others(9): Show CACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18975.hp2 NA19003.hp2 HG00621.hp1 NA18975.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0237 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0237 a0002c0002t0003g0247 a0002c0002t0003g0248	3	308	0.0097	16	c.186 others(35): Show c.186+57863_186+57864insCTCTCTCTCTCTCTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130366886	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03490.hp1 NA18948.hp2 others(1): Show HG00597.hp2 HG03490.hp1 NA18948.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0001 a0002c0002t0001 a0002c0011t0001	a0002c0002t0001g0067 a0002c0002t0001g0078 a0002c0002t0001g0137 others(1): Show a0002c0002t0001g0067 a0002c0002t0001g0078 a0002c0002t0001g0137 a0002c0011t0001g0074	4	308	0.0130	16	c.60- others(31): Show c.60-8759_60-8744dupAAAAAAAAAAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	2/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0043 a0001c0003t0004g0043	1	210	0.0048	16	c.127 others(35): Show c.127-25080_127-25079insAAAAAAAATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(9): Show AAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0120 a0001c0002t0022g0120	1	210	0.0048	16	c.127 others(35): Show c.127-25080_127-25079insAAAAAATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9270785	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01071.hp2 HG01261.hp1 others(3): Show HG00280.hp1 HG01071.hp2 HG01261.hp1 HG02647.hp1 HG03453.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0005 a0001c0002 a0001c0003 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0003t0021 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0021 a0002c0005t0001	a0001c0002t0001g0097 a0001c0002t0002g0057 a0001c0002t0002g0058 others(3): Show a0001c0002t0001g0097 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0096 a0001c0003t0021g0040 a0002c0005t0001g0098	6	210	0.0286	16	c.127 others(33): Show c.127-8522_127-8507dupTTTTTTTTTTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9301820	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp2 HG02257.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0202 a0001c0002t0002g0198 a0001c0002t0002g0202	2	210	0.0095	16	c.345 others(33): Show c.345+4381_345+4396dupTTTTTTTTTTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9361974	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0008 a0001c0002t0023g0008	1	210	0.0048	16	c.146 others(35): Show c.1461+3108_1461+3123dupGTGTGTGTGTGTGTGT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9367027	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02630.hp2 others(3): Show HG01884.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02922.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 a0001c0002 a0001c0006 a0001c0007	a0001c0002t0019 a0001c0006t0004 a0001c0007t0004 a0001c0002t0019 a0001c0006t0004 a0001c0007t0004	a0001c0002t0019g0164 a0001c0006t0004g0014 a0001c0006t0004g0189 others(3): Show a0001c0002t0019g0164 a0001c0006t0004g0014 a0001c0006t0004g0189 a0001c0006t0004g0197 a0001c0007t0004g0015 a0001c0007t0004g0203	6	210	0.0286	16	c.146 others(35): Show c.1462-1395_1462-1380dupTTTTTTTTTTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATTT others(9): Show ATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0043 a0001c0003t0004g0043	1	210	0.0048	16	c.268 others(35): Show c.2685-2272_2685-2271insATATTTTTTTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23473974	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0161 a0001c0004t0001g0161	1	346	0.0029	16	c.129 others(35): Show c.129+10015_129+10030dupAAAAAAAAAAAAAAAA	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24			chr1	TogoVar
ASB11_chrX_15276697_15320640	15278635	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00597.hp1 others(39): Show HG00099.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG01169.hp2 HG01175.hp2 HG01993.hp2 HG02015.hp1 HG02083.hp1 HG02148.hp1 HG02257.hp1 HG02602.hp1 HG02738.hp1 HG03209.hp1 HG03471.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18945.hp1 NA18950.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18993.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19009.hp1 NA19060.hp1 NA19064.hp1 NA19075.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0006 a0008c0009 a0001c0001 a0005c0006 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0005c0006t0010 a0008c0009t0002	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0009 others(36): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0223 a0001c0001t0003g0011 a0001c0001t0003g0034 a0001c0001t0003g0089 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0170 a0001c0001t0003g0238 a0001c0001t0010g0041 a0001c0001t0010g0095 a0001c0001t0012g0068 a0001c0001t0012g0070 a0001c0001t0025g0178 a0001c0001t0026g0083 a0001c0001t0029g0213 a0005c0006t0010g0058 a0008c0009t0002g0263	42	306	0.1373	16	c.48 others(27): Show c.4869_*4870insTTTTTTTTTTTTTTTT	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding		3061		chrX	TogoVar

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