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
ABCC4_chr13_95014835_95306451	95029984	T T	TGTCTATC others(5): Show TGTCTATCCATCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0023 a0001c0009t0023	a0001c0009t0023g0034 a0001c0009t0023g0034	1	248	0.0040	12	c.387 others(31): Show c.3870+4620_3870+4621insGGATGGATAGAC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029988	T T	TATCCATC others(5): Show TATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00738.hp1 others(10): Show HG00140.hp2 HG00558.hp2 HG00738.hp1 HG02615.hp2 HG02647.hp1 HG02735.hp1 HG02896.hp2 HG03831.hp2 NA18522.hp2 NA18948.hp1 NA18951.hp1 NA18994.hp2 NA19079.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0021 a0001c0051 a0001c0055 a0002c0005 a0002c0063 a0003c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0018 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0018 a0001c0003t0010 a0001c0007t0002 a0001c0009t0001 a0001c0021t0001 a0001c0051t0012 a0001c0055t0001 a0002c0005t0002 a0002c0063t0001 a0003c0008t0010	a0001c0001t0001g0063 a0001c0001t0001g0126 a0001c0002t0001g0174 others(10): Show a0001c0001t0001g0063 a0001c0001t0001g0126 a0001c0002t0001g0174 a0001c0002t0018g0183 a0001c0003t0010g0210 a0001c0007t0002g0229 a0001c0009t0001g0047 a0001c0021t0001g0011 a0001c0051t0012g0065 a0001c0055t0001g0033 a0002c0005t0002g0217 a0002c0063t0001g0070 a0003c0008t0010g0214	13	248	0.0524	12	c.387 others(31): Show c.3870+4605_3870+4616dupGGATGGATGGAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029988	T T	TATCTATC others(5): Show TATCTATCCATCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 NA20752.hp1 HG01433.hp1 HG01433.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0001c0022 a0002c0015 a0001c0010 a0001c0022 a0002c0015	a0001c0010t0007 a0001c0022t0022 a0002c0015t0007 a0001c0010t0007 a0001c0022t0022 a0002c0015t0007	a0001c0010t0007g0167 a0001c0022t0022g0161 a0002c0015t0007g0071 a0001c0010t0007g0167 a0001c0022t0022g0161 a0002c0015t0007g0071	3	248	0.0121	12	c.387 others(31): Show c.3870+4616_3870+4617insGGATGGATAGAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95054021	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp1 HG03579.hp1 HG02976.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0040 a0001c0001 a0001c0012 a0001c0040	a0001c0001t0006 a0001c0012t0006 a0001c0040t0003 a0001c0001t0006 a0001c0012t0006 a0001c0040t0003	a0001c0001t0006g0028 a0001c0012t0006g0053 a0001c0040t0003g0124 a0001c0001t0006g0028 a0001c0012t0006g0053 a0001c0040t0003g0124	3	248	0.0121	12	c.336 others(29): Show c.3367-849_3367-838dupAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95062486	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19084.hp2 HG03471.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0014 a0001c0001t0006 a0001c0003t0014	a0001c0001t0006g0028 a0001c0003t0014g0082 a0001c0001t0006g0028 a0001c0003t0014g0082	2	248	0.0081	12	c.336 others(29): Show c.3366+206_3366+217dupTGTGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95064260	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG01109.hp1 HG02258.hp1	a0007 a0007	a0007c0043 a0007c0069 a0007c0043 a0007c0069	a0007c0043t0009 a0007c0069t0009 a0007c0043t0009 a0007c0069t0009	a0007c0043t0009g0097 a0007c0069t0009g0043 a0007c0043t0009g0097 a0007c0069t0009g0043	2	248	0.0081	12	c.321 others(31): Show c.3211-1413_3211-1402dupTATATATATATA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	25/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95064260	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18951.hp1 HG02970.hp2 NA18951.hp1	a0002 a0011 a0002 a0011	a0002c0005 a0011c0056 a0002c0005 a0011c0056	a0002c0005t0002 a0011c0056t0009 a0002c0005t0002 a0011c0056t0009	a0002c0005t0002g0217 a0011c0056t0009g0090 a0002c0005t0002g0217 a0011c0056t0009g0090	2	248	0.0081	12	c.321 others(31): Show c.3211-1402_3211-1401insTATATATATACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	25/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95064297	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0007 a0002c0015t0007	a0002c0015t0007g0091 a0002c0015t0007g0091	1	248	0.0040	12	c.321 others(31): Show c.3211-1439_3211-1438insGTGTATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	25/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95086087	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00639.hp2 others(53): Show HG00140.hp2 HG00280.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp2 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18952.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18979.hp1 NA18988.hp2 NA18994.hp2 NA19005.hp1 NA19074.hp2 NA19084.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0007 a0010 a0012 a0016	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0022 a0001c0039 a0001c0053 a0002c0004 a0002c0060 a0002c0063 a0002c0072 a0004c0006 a0005c0019 a0006c0027 a0006c0038 a0006c0057 a0007c0070 a0010c0034 a0012c0037 a0016c0073	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0018 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0014 a0001c0007t0001 a0001c0009t0002 a0001c0010t0007 a0001c0022t0022 a0001c0039t0002 a0001c0053t0012 a0002c0004t0001 a0002c0004t0002 a0002c0060t0004 a0002c0063t0001 a0002c0072t0002 a0004c0006t0002 a0005c0019t0002 a0006c0027t0002 a0006c0038t0002 a0006c0057t0001 a0007c0070t0005 a0010c0034t0001 a0012c0037t0002 a0016c0073t0001	a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0103 others(53): Show a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0002g0106 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0002t0001g0109 a0001c0002t0001g0230 a0001c0002t0002g0165 a0001c0002t0002g0178 a0001c0002t0002g0190 a0001c0002t0014g0184 a0001c0002t0018g0183 a0001c0003t0001g0029 a0001c0003t0001g0149 a0001c0003t0001g0233 a0001c0003t0002g0114 a0001c0003t0002g0231 a0001c0003t0003g0135 a0001c0003t0014g0082 a0001c0007t0001g0237 a0001c0009t0002g0021 a0001c0009t0002g0123 a0001c0010t0007g0180 a0001c0022t0022g0161 a0001c0039t0002g0113 a0001c0053t0012g0072 a0002c0004t0001g0079 a0002c0004t0001g0182 a0002c0004t0002g0051 a0002c0004t0002g0094 a0002c0004t0002g0100 a0002c0004t0002g0193 a0002c0004t0002g0222 a0002c0060t0004g0022 a0002c0063t0001g0070 a0002c0072t0002g0041 a0004c0006t0002g0061 a0005c0019t0002g0215 a0005c0019t0002g0223 a0006c0027t0002g0151 a0006c0027t0002g0194 a0006c0038t0002g0145 a0006c0057t0001g0087 a0007c0070t0005g0054 a0010c0034t0001g0001 a0012c0037t0002g0112 a0016c0073t0001g0186	56	248	0.2258	12	c.253 others(31): Show c.2536-2809_2536-2798dupCACACACACACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	20/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95095286	T T	TTACCTAT others(5): Show TTACCTATCTATC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0062 a0003c0008t0001g0062	1	248	0.0040	12	c.253 others(33): Show c.2536-11997_2536-11996insGATAGATAGGTA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	20/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95126720	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01255.hp1 HG02148.hp2 others(3): Show HG00639.hp1 HG01255.hp1 HG02148.hp2 HG02723.hp2 HG02735.hp1 NA19009.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0063 a0006c0027	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0002c0063t0001 a0006c0027t0002	a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0002t0002g0116 others(3): Show a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0002t0002g0116 a0001c0003t0001g0155 a0002c0063t0001g0070 a0006c0027t0002g0194	6	248	0.0242	12	c.245 others(33): Show c.2456-10731_2456-10720dupATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95157088	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp1 HG02723.hp2 others(5): Show HG01243.hp1 HG02723.hp1 HG02723.hp2 HG03139.hp2 HG03579.hp1 NA18966.hp1 NA18974.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0010 others(3): Show a0001c0001 a0001c0003 a0001c0010 a0001c0040 a0001c0068 a0003c0008	a0001c0001t0001 a0001c0003t0003 a0001c0010t0024 others(3): Show a0001c0001t0001 a0001c0003t0003 a0001c0010t0024 a0001c0040t0003 a0001c0068t0003 a0003c0008t0001	a0001c0001t0001g0154 a0001c0003t0003g0135 a0001c0010t0024g0024 others(5): Show a0001c0001t0001g0154 a0001c0003t0003g0135 a0001c0010t0024g0024 a0001c0040t0003g0124 a0001c0068t0003g0007 a0003c0008t0001g0062 a0003c0008t0001g0205 a0003c0008t0001g0208	8	248	0.0323	12	c.245 others(31): Show c.2455+4089_2455+4100dupTGTGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95159093	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01261.hp2 HG02080.hp1 others(3): Show HG00609.hp1 HG01261.hp2 HG02080.hp1 NA19002.hp1 NA19009.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0004	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0011t0002 a0002c0004t0001	a0001c0001t0002g0085 a0001c0001t0002g0221 a0001c0002t0001g0139 others(3): Show a0001c0001t0002g0085 a0001c0001t0002g0221 a0001c0002t0001g0139 a0001c0002t0002g0116 a0001c0011t0002g0202 a0002c0004t0001g0140	6	248	0.0242	12	c.245 others(31): Show c.2455+2084_2455+2095dupTATATATATATA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95164054	A A	AAAAAAAA others(5): Show AAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01256.hp1 HG01346.hp1 others(3): Show HG01069.hp1 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG02148.hp1 HG02738.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0010 a0001c0014 others(2): Show a0001c0001 a0001c0010 a0001c0014 a0002c0005 a0004c0030	a0001c0001t0008 a0001c0010t0007 a0001c0014t0007 others(2): Show a0001c0001t0008 a0001c0010t0007 a0001c0014t0007 a0002c0005t0002 a0004c0030t0002	a0001c0001t0008g0248 a0001c0010t0007g0143 a0001c0014t0007g0170 others(3): Show a0001c0001t0008g0248 a0001c0010t0007g0143 a0001c0014t0007g0170 a0002c0005t0002g0146 a0002c0005t0002g0232 a0004c0030t0002g0069	6	248	0.0242	12	c.217 others(29): Show c.2175+323_2175+324insCTTTCTTTTTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	16/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95164054	A A	AAAAGAAA others(5): Show AAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02258.hp1 others(1): Show HG01109.hp1 HG01243.hp2 HG02258.hp1 HG02559.hp1	a0007 a0015 a0007 a0015	a0007c0043 a0007c0069 a0007c0070 others(1): Show a0007c0043 a0007c0069 a0007c0070 a0015c0062	a0007c0043t0009 a0007c0069t0009 a0007c0070t0005 others(1): Show a0007c0043t0009 a0007c0069t0009 a0007c0070t0005 a0015c0062t0003	a0007c0043t0009g0097 a0007c0069t0009g0043 a0007c0070t0005g0054 others(1): Show a0007c0043t0009g0097 a0007c0069t0009g0043 a0007c0070t0005g0054 a0015c0062t0003g0013	4	248	0.0161	12	c.217 others(29): Show c.2175+312_2175+323dupCTTTCTTTCTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	16/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95167177	C C	CATAAATA others(5): Show CATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0005 a0001c0026t0005	a0001c0026t0005g0133 a0001c0026t0005g0133	1	248	0.0040	12	c.182 others(29): Show c.1825-822_1825-811dupTTATTTATTTAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	14/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95167205	A A	AATAAATA others(5): Show AATAAATAAATAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA20300.hp2 HG01981.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0066 a0001c0003 a0001c0066	a0001c0003t0001 a0001c0066t0003 a0001c0003t0001 a0001c0066t0003	a0001c0003t0001g0036 a0001c0066t0003g0035 a0001c0003t0001g0036 a0001c0066t0003g0035	2	248	0.0081	12	c.182 others(29): Show c.1825-839_1825-838insGTATTTATTTAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	14/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95196582	G G	GAGGAAGG others(5): Show GAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG02622.hp1 HG00558.hp2 HG00642.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0017 a0001c0003 a0001c0010 a0001c0017	a0001c0003t0010 a0001c0010t0007 a0001c0017t0006 a0001c0003t0010 a0001c0010t0007 a0001c0017t0006	a0001c0003t0010g0210 a0001c0010t0007g0180 a0001c0017t0006g0138 a0001c0003t0010g0210 a0001c0010t0007g0180 a0001c0017t0006g0138	3	248	0.0121	12	c.116 others(31): Show c.1162-1657_1162-1646dupTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95218927	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0016 a0016	a0016c0073 a0016c0073	a0016c0073t0001 a0016c0073t0001	a0016c0073t0001g0186 a0016c0073t0001g0186	1	248	0.0040	12	c.532 others(29): Show c.532-8158_532-8147dupTTCTTTCTTTCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244596	T T	TGAAAGAA others(5): Show TGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02965.hp1 NA18969.hp2 HG01975.hp1 HG02965.hp1 NA18969.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0064 a0005c0018 a0001c0002 a0002c0064 a0005c0018	a0001c0002t0001 a0002c0064t0006 a0005c0018t0001 a0001c0002t0001 a0002c0064t0006 a0005c0018t0001	a0001c0002t0001g0109 a0002c0064t0006g0045 a0005c0018t0001g0212 a0001c0002t0001g0109 a0002c0064t0006g0045 a0005c0018t0001g0212	3	248	0.0121	12	c.306 others(29): Show c.306+2367_306+2378dupTTTCTTTCTTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244670	A A	AAAGAAAT others(5): Show AAAGAAATCAATC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0100 a0002c0004t0002g0100	1	248	0.0040	12	c.306 others(29): Show c.306+2304_306+2305insGATTGATTTCTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95247918	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp1 HG01099.hp2 others(4): Show HG00673.hp1 HG01099.hp1 HG01099.hp2 HG02738.hp2 NA18974.hp2 NA19057.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0014 others(2): Show a0001c0001 a0001c0002 a0001c0014 a0002c0004 a0003c0016	a0001c0001t0001 a0001c0002t0002 a0001c0014t0007 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0014t0007 a0002c0004t0002 a0003c0016t0001 a0003c0016t0002	a0001c0001t0001g0103 a0001c0002t0002g0165 a0001c0002t0002g0178 others(4): Show a0001c0001t0001g0103 a0001c0002t0002g0165 a0001c0002t0002g0178 a0001c0014t0007g0172 a0002c0004t0002g0222 a0003c0016t0001g0200 a0003c0016t0002g0228	7	248	0.0282	12	c.75- others(25): Show c.75-177_75-166dupTGTGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95290103	A A	AATAGATA others(5): Show AATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG01243.hp1 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0004 a0001c0010 a0002c0004	a0001c0010t0024 a0002c0004t0002 a0001c0010t0024 a0002c0004t0002	a0001c0010t0024g0024 a0002c0004t0002g0100 a0001c0010t0024g0024 a0002c0004t0002g0100	2	248	0.0081	12	c.74+ others(29): Show c.74+11126_74+11137dupCTATCTATCTAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95290105	T T	TAGATAGA others(5): Show TAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00558.hp1 others(22): Show HG00140.hp2 HG00323.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01433.hp2 HG01496.hp2 HG02071.hp1 HG02148.hp1 HG02258.hp2 HG02738.hp2 HG03209.hp2 HG03831.hp2 HG04184.hp1 NA18959.hp2 NA18983.hp1 NA18985.hp2 NA19057.hp1 NA19060.hp2 NA19084.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0014 a0001c0022 a0001c0036 a0002c0004 a0002c0005 a0003c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0018 a0001c0003t0001 a0001c0003t0014 a0001c0011t0002 a0001c0014t0007 a0001c0022t0022 a0001c0036t0001 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0003c0016t0001	a0001c0001t0001g0126 a0001c0001t0001g0163 a0001c0001t0001g0169 others(22): Show a0001c0001t0001g0126 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0206 a0001c0001t0002g0160 a0001c0001t0002g0197 a0001c0001t0002g0203 a0001c0001t0020g0168 a0001c0002t0001g0174 a0001c0002t0001g0181 a0001c0002t0002g0165 a0001c0002t0002g0178 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0018g0183 a0001c0003t0001g0149 a0001c0003t0014g0082 a0001c0011t0002g0101 a0001c0014t0007g0170 a0001c0022t0022g0161 a0001c0036t0001g0164 a0002c0004t0001g0182 a0002c0004t0002g0222 a0002c0005t0001g0102 a0003c0016t0001g0200	25	248	0.1008	12	c.74+ others(29): Show c.74+11135_74+11136insGTCTATCTATCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95290997	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01169.hp1 others(30): Show HG00423.hp1 HG00609.hp1 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02155.hp2 HG02257.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03540.hp2 HG03579.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18974.hp2 NA18977.hp2 NA18985.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0021 a0001c0023 a0001c0025 a0001c0041 a0001c0049 a0001c0051 a0001c0071 a0002c0004 a0002c0015 a0002c0020 a0002c0059 a0003c0016 a0003c0029 a0005c0019 a0008c0031 a0009c0033 a0010c0034	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0005 a0001c0007t0002 a0001c0007t0019 a0001c0010t0004 a0001c0010t0024 a0001c0011t0008 a0001c0013t0001 a0001c0014t0008 a0001c0021t0001 a0001c0023t0003 a0001c0023t0006 a0001c0025t0002 a0001c0041t0009 a0001c0049t0003 a0001c0051t0012 a0001c0071t0009 a0002c0004t0008 a0002c0015t0001 a0002c0015t0007 a0002c0020t0004 a0002c0059t0006 a0003c0016t0002 a0003c0016t0008 a0003c0029t0002 a0005c0019t0002 a0008c0031t0002 a0009c0033t0017 a0010c0034t0001	a0001c0001t0001g0154 a0001c0001t0002g0221 a0001c0002t0001g0230 others(30): Show a0001c0001t0001g0154 a0001c0001t0002g0221 a0001c0002t0001g0230 a0001c0003t0005g0019 a0001c0007t0002g0229 a0001c0007t0019g0026 a0001c0010t0004g0119 a0001c0010t0024g0024 a0001c0011t0008g0244 a0001c0013t0001g0037 a0001c0014t0008g0242 a0001c0021t0001g0009 a0001c0021t0001g0011 a0001c0023t0003g0073 a0001c0023t0006g0008 a0001c0025t0002g0075 a0001c0041t0009g0127 a0001c0049t0003g0067 a0001c0051t0012g0065 a0001c0071t0009g0010 a0002c0004t0008g0241 a0002c0015t0001g0025 a0002c0015t0007g0071 a0002c0020t0004g0057 a0002c0020t0004g0130 a0002c0059t0006g0058 a0003c0016t0002g0228 a0003c0016t0008g0245 a0003c0029t0002g0204 a0005c0019t0002g0175 a0008c0031t0002g0002 a0009c0033t0017g0003 a0010c0034t0001g0001	33	248	0.1331	12	c.74+ others(29): Show c.74+10232_74+10243dupTTTTTTTTTTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95291009	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0149 a0001c0003t0001g0149	1	248	0.0040	12	c.74+ others(29): Show c.74+10231_74+10232insCTTTTTTTTTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95302342	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01192.hp1 HG01261.hp2 others(3): Show HG00140.hp1 HG01192.hp1 HG01261.hp2 HG01981.hp2 HG02148.hp2 NA20752.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0073 a0001c0001 a0016c0073	a0001c0001t0001 a0001c0001t0002 a0016c0073t0001 a0001c0001t0001 a0001c0001t0002 a0016c0073t0001	a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0198 others(3): Show a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0002g0085 a0001c0001t0002g0199 a0016c0073t0001g0186	6	248	0.0242	12	c.-10 others(23): Show c.-1029_-1028insACACACACACAC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding		892		chr13	TogoVar
ABCC5_chr3_183914934_184022884	183922035	T T	TAATAAAT others(5): Show TAATAAATAAATA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	378	0.0027	12	c.421 others(29): Show c.4213-646_4213-635dupTATTTATTTATT	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	29/29			chr3	TogoVar
ABCC5_chr3_183914934_184022884	183959052	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18965.hp1 HG02109.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0004 a0001c0002t0001 a0001c0004t0004	a0001c0002t0001g0307 a0001c0004t0004g0130 a0001c0002t0001g0307 a0001c0004t0004g0130	2	378	0.0053	12	c.248 others(29): Show c.2482+669_2482+680dupGTGTGTGTGTGT	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29			chr3	TogoVar
ABCC5_chr3_183914934_184022884	184012014	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp1 others(64): Show HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp1 HG00741.hp1 HG01070.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG02056.hp1 HG02080.hp1 HG02148.hp1 HG02523.hp1 HG02683.hp2 HG02738.hp2 HG03041.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA18999.hp1 NA19012.hp1 NA19060.hp2 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19088.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0001c0020 others(1): Show a0001c0001 a0001c0008 a0001c0020 a0004c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0008t0001 a0001c0020t0001 a0004c0021t0003	a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0141 others(62): Show a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0259 a0001c0001t0005g0010 a0001c0001t0005g0012 a0001c0001t0005g0020 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0151 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0178 a0001c0001t0005g0180 a0001c0001t0005g0198 a0001c0001t0016g0023 a0001c0008t0001g0155 a0001c0008t0001g0181 a0001c0020t0001g0163 a0004c0021t0003g0212	67	378	0.1773	12	c.129 others(29): Show c.129+2238_129+2249dupGTGTGTGTGTGT	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	2/29			chr3	TogoVar
ABCC6_chr16_16144565_16228494	16149372	T T	TACACACA others(5): Show TACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02818.hp2 HG03491.hp1 others(4): Show HG00639.hp2 HG02818.hp2 HG03491.hp1 NA18612.hp1 NA18959.hp1 NA19000.hp2 NA19043.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0001c0049 a0002c0068 others(1): Show a0001c0001 a0001c0049 a0002c0068 a0021c0079	a0001c0001t0001 a0001c0049t0001 a0002c0068t0001 others(1): Show a0001c0001t0001 a0001c0049t0001 a0002c0068t0001 a0021c0079t0001	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 others(4): Show a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0305 a0001c0049t0001g0352 a0002c0068t0001g0097 a0021c0079t0001g0238	7	357	0.0196	12	c.76 others(21): Show c.760_*761insGTGTGTGTGTGT	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding		192		chr16	TogoVar
ABCC6_chr16_16144565_16228494	16174759	A A	ACCCCCCC others(5): Show ACCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp2 HG03654.hp2 others(3): Show HG02135.hp1 HG02135.hp2 HG03654.hp2 NA18964.hp1 NA18968.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0303 others(3): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0303 a0001c0001t0004g0181 a0001c0004t0001g0209 a0001c0006t0001g0278	6	357	0.0168	12	c.266 others(31): Show c.2666+1151_2666+1152insGGGGGGGGGGGG	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	20/30			chr16	TogoVar
ABCC8_chr11_17387885_17481845	17434984	C C	CGCGCGTG others(5): Show CGCGCGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	330	0.0030	12	c.163 others(31): Show c.1631-2741_1631-2740insACACACACGCGC	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17434984	C C	CGCGTGTG others(5): Show CGCGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp1 HG01496.hp2 others(4): Show HG00140.hp1 HG01168.hp1 HG01496.hp2 HG01515.hp1 HG04199.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0017 a0002c0005	a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 a0001c0017t0001 a0002c0005t0001	a0001c0001t0001g0173 a0001c0003t0001g0082 a0001c0003t0001g0086 others(4): Show a0001c0001t0001g0173 a0001c0003t0001g0082 a0001c0003t0001g0086 a0001c0003t0001g0282 a0001c0004t0002g0012 a0001c0017t0001g0070 a0002c0005t0001g0120	7	330	0.0212	12	c.163 others(31): Show c.1631-2741_1631-2740insACACACACACGC	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17467042	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02132.hp1 HG02135.hp2 others(8): Show HG00738.hp1 HG02132.hp1 HG02135.hp2 HG02602.hp1 HG02622.hp2 HG03669.hp2 NA18967.hp1 NA19000.hp1 NA19043.hp1 NA19068.hp2 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0006 others(5): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0002c0005 a0002c0044 a0003c0063	a0001c0003t0001 a0001c0004t0002 a0001c0006t0001 others(5): Show a0001c0003t0001 a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0002c0005t0001 a0002c0044t0001 a0003c0063t0001	a0001c0003t0001g0118 a0001c0003t0001g0160 a0001c0004t0002g0012 others(8): Show a0001c0003t0001g0118 a0001c0003t0001g0160 a0001c0004t0002g0012 a0001c0006t0001g0278 a0001c0007t0001g0116 a0001c0007t0001g0119 a0001c0008t0001g0157 a0002c0005t0001g0277 a0002c0005t0001g0279 a0002c0044t0001g0117 a0003c0063t0001g0052	11	330	0.0333	12	c.412 others(29): Show c.412+3047_412+3058dupTGTGTGTGTGTG	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	3/38			chr11	TogoVar
ABCC9_chr12_21792389_21946426	21818526	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	212	0.0047	12	c.367 others(29): Show c.3670-287_3670-276dupCACACACACACA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	31/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21827527	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	212	0.0047	12	c.366 others(31): Show c.3669+1419_3669+1430dupGTGTGTGTGTGT	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	31/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21830974	T T	TTATCTAT others(5): Show TTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp2 others(31): Show HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01346.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG03139.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 NA18747.hp2 NA18952.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp2 NA18982.hp1 NA18984.hp2 NA19006.hp1 NA19043.hp2 NA19060.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0041 others(31): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0003g0158 a0001c0001t0013g0092	34	212	0.1604	12	c.356 others(31): Show c.3567-1926_3567-1915dupGATAGATAGATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	30/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21834786	T T	TATACACA others(5): Show TATACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	212	0.0047	12	c.356 others(31): Show c.3566+3291_3566+3292insGTGTGTGTGTAT	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	30/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915506	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	212	0.0047	12	c.816 others(27): Show c.816+161_816+162insAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915508	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	212	0.0047	12	c.816 others(27): Show c.816+159_816+160insAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915510	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18991.hp2 HG02486.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0044 a0001c0001t0001g0058	2	212	0.0094	12	c.816 others(27): Show c.816+157_816+158insAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915512	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA20752.hp2 HG00738.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0141 a0001c0001t0006g0142 a0001c0001t0003g0141 a0001c0001t0006g0142	2	212	0.0094	12	c.816 others(27): Show c.816+155_816+156insAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp1 HG01169.hp2 others(12): Show HG01074.hp1 HG01168.hp1 HG01169.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0012 a0001c0003t0007 a0001c0003t0016	a0001c0001t0001g0050 a0001c0001t0001g0132 a0001c0001t0001g0133 others(12): Show a0001c0001t0001g0050 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0201 a0001c0001t0004g0199 a0001c0001t0005g0175 a0001c0002t0012g0002 a0001c0003t0007g0180 a0001c0003t0007g0204 a0001c0003t0016g0173	15	212	0.0708	12	c.816 others(27): Show c.816+142_816+153dupAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCD2_chr12_39545033_39624803	39571130	A A	AATTAGTA others(5): Show AATTAGTATAGCC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	340	0.0029	12	c.200 others(31): Show c.2003+2574_2003+2585dupGGCTATACTAAT	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	9/9			chr12	TogoVar
ABCD2_chr12_39545033_39624803	39602127	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02896.hp1 others(3): Show HG01891.hp2 HG02451.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0010 a0001c0006t0024 a0001c0001t0001 a0001c0001t0010 a0001c0006t0024	a0001c0001t0001g0012 a0001c0001t0010g0011 a0001c0001t0010g0076 others(1): Show a0001c0001t0001g0012 a0001c0001t0010g0011 a0001c0001t0010g0076 a0001c0006t0024g0030	6	340	0.0177	12	c.150 others(31): Show c.1501-1423_1501-1412dupTAAATAAATAAA	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	5/9			chr12	TogoVar
ABCD3_chr1_94413389_94523663	94418421	A A	AGCCGCCG others(5): Show AGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0235 a0001c0001t0017g0235	1	362	0.0028	12	c.-46 others(19): Show c.-46_-35dupCGCCGCCGCCGC	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	1/23	34	INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCD3_chr1_94413389_94523663	94438301	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02080.hp1 NA18965.hp2 HG01496.hp2 HG02080.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0022 a0001c0001t0001g0082 a0001c0001t0001g0083	3	362	0.0083	12	c.110 others(31): Show c.110+19745_110+19756dupCACACACACACA	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCD4_chr14_74280269_74307934	74280649	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0060 a0002c0002t0024g0060	1	384	0.0026	12	c.58 others(23): Show c.5811_*5812insTTTTTTTTTTTT	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding		4619		chr14	TogoVar
ABCF2_chr7_151206484_151232205	151206719	A A	AAGATAGA others(5): Show AAGATAGATAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01109.hp1 others(25): Show HG00099.hp1 HG00639.hp1 HG01109.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02165.hp2 HG02523.hp1 HG02559.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03098.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp2 NA18990.hp2 NA19080.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012	a0001c0001t0001 a0001c0001t0014 a0001c0002t0003 others(8): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0017 a0001c0003t0002 a0001c0004t0004 a0001c0004t0050 a0001c0012t0023	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0034 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0014g0021 a0001c0002t0003g0004 a0001c0002t0008g0039 a0001c0002t0009g0015 a0001c0002t0009g0025 a0001c0002t0011g0022 a0001c0002t0017g0115 a0001c0003t0002g0002 a0001c0003t0002g0028 a0001c0004t0004g0005 a0001c0004t0050g0126 a0001c0012t0023g0049	28	390	0.0718	12	c.73 others(23): Show c.7334_*7335insATCTATCTATCT	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding		4764		chr7	TogoVar

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