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
A3GALT2_chr1_33301766_33326098	33308750	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp1 HG02055.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0032 a0001c0001t0000g0032	2	418	0.0048	15	c.336 others(32): Show c.336-1312_336-1298dupAAAAAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33310306	A A	AGGGAGAG others(8): Show AGGGAGAGGGAGACCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18995.hp1 HG00423.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0110 a0001c0001t0000g0112 a0001c0001t0000g0110 a0001c0001t0000g0112	2	418	0.0048	15	c.335 others(32): Show c.335+1731_335+1745dupCGGTCTCCCTCTCCC	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42696121	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18960.hp1 NA18994.hp1 others(2): Show NA18956.hp2 NA18960.hp1 NA18994.hp1 NA19010.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0130 a0001c0001t0002g0131 others(2): Show a0001c0001t0002g0087 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0176	5	406	0.0123	15	c.-18 others(32): Show c.-187-505_-187-491dupTTTTTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02738.hp1 HG03130.hp2 others(1): Show HG02258.hp1 HG02738.hp1 HG03130.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0004 a0001c0011t0004 a0001c0001t0004 a0001c0011t0004	a0001c0001t0004g0296 a0001c0001t0004g0298 a0001c0001t0004g0300 others(1): Show a0001c0001t0004g0296 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0011t0004g0294	4	406	0.0099	15	c.-18 others(36): Show c.-188+11729_-188+11730insAAAAATATATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp2 HG03209.hp1 others(2): Show HG02109.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0297 others(2): Show a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0002t0003g0081	5	406	0.0123	15	c.-18 others(36): Show c.-188+11729_-188+11730insAAAAAAATATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0032	1	406	0.0025	15	c.-18 others(36): Show c.-188+11729_-188+11730insAAAAAAAAATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	406	0.0025	15	c.-18 others(36): Show c.-188+11729_-188+11730insAAAAAAAAAAATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42723423	T T	TGGGCATG others(8): Show TGGGCATGGCTAGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0251 a0001c0010t0009g0251	1	406	0.0025	15	c.-28 others(26): Show c.-2815_-2814insCAGCTAGCCATGCCC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		2554		chr22	TogoVar
AADACL4_chr1_12639085_12672076	12658090	T T	TTTCCTTC others(8): Show TTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	310	0.0032	15	c.386 others(32): Show c.386-3701_386-3700insTTCCTTCCTTCCTTC	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3			chr1	TogoVar
AADAT_chr4_170055222_170094956	170056435	A A	AAAAATAT others(8): Show AAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	378	0.0027	15	c.44 others(26): Show c.4492_*4493insATATATATATATTTT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3786		chr4	TogoVar
AADAT_chr4_170055222_170094956	170056435	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 NA19070.hp1 HG01358.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0190 a0001c0001t0001g0106 a0001c0001t0001g0190	2	378	0.0053	15	c.44 others(26): Show c.4492_*4493insATATATATATATATA	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3786		chr4	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18979.hp1 HG02135.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0152 a0002c0002t0003g0186 a0002c0002t0003g0152 a0002c0002t0003g0186	2	380	0.0053	15	c.535 others(32): Show c.535+9531_535+9532insGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222283	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	380	0.0026	15	c.535 others(32): Show c.535+9530_535+9531insTGTGTGTGTGTGTGT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67253260	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18950.hp2 NA18989.hp2 others(1): Show HG02280.hp1 NA18950.hp2 NA18989.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 others(1): Show a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0021g0025	4	380	0.0105	15	c.73+ others(30): Show c.73+1284_73+1298dupCCCCCCCCCCCCCCC	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03471.hp2 HG01074.hp1 HG03471.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0012 a0002c0002 a0004c0012	a0002c0002t0023 a0004c0012t0036 a0002c0002t0023 a0004c0012t0036	a0002c0002t0023g0026 a0004c0012t0036g0283 a0002c0002t0023g0026 a0004c0012t0036g0283	2	298	0.0067	15	c.236 others(34): Show c.2365+2812_2365+2826dupTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69524412	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0052 a0001c0001t0073g0052	1	298	0.0034	15	c.105 others(32): Show c.1055+606_1055+620dupCAAAACAAAACAAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	10/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69644165	T T	TTCGCGCC others(8): Show TTCGCGCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03453.hp2 HG02723.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0121 a0001c0001t0116 a0001c0001t0121	a0001c0001t0116g0185 a0001c0001t0121g0186 a0001c0001t0116g0185 a0001c0001t0121g0186	2	298	0.0067	15	c.-82 others(24): Show c.-826_-825insGGGGGGGGGGCGCGA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding		427		chr2	TogoVar
AAMDC_chr11_77816144_77877352	77852224	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00609.hp2 others(42): Show HG00140.hp1 HG00408.hp2 HG00609.hp2 HG01123.hp2 HG01261.hp2 HG01891.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02630.hp1 HG02965.hp1 HG03139.hp2 HG03239.hp2 HG03710.hp1 HG04228.hp2 NA18906.hp2 NA18950.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18984.hp1 NA18984.hp2 NA18991.hp2 NA18998.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp2 NA19078.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0096 a0001c0001t0001g0098 others(41): Show a0001c0001t0001g0004 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0363 a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0001g0372	45	382	0.1178	15	c.132 others(32): Show c.132+9599_132+9613dupAAAAAAAAAAAAAAA	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AARS1_chr16_70247298_70294506	70249014	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG02922.hp1 others(2): Show HG02559.hp2 HG02647.hp2 HG02922.hp1 NA18906.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 others(2): Show a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359	5	362	0.0138	15	c.36 others(26): Show c.3692_*3706dupTTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		3283		chr16	TogoVar
AARS1_chr16_70247298_70294506	70269322	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0343 a0002c0004t0001g0343	1	362	0.0028	15	c.962 others(30): Show c.962+281_962+295dupTTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70272924	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	362	0.0028	15	c.480 others(30): Show c.480-953_480-952insGTGTGTGTGTGTGTG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70275936	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0359 a0002c0004t0001g0359	1	362	0.0028	15	c.479 others(30): Show c.479+535_479+549dupTTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS2_chr6_44293731_44318347	44299916	G G	GGCACCCA others(8): Show GGCACCCATACCAGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0020 a0001c0017t0020	a0001c0017t0020g0054 a0001c0017t0020g0054	1	396	0.0025	15	c.63 others(24): Show c.630_*631insACCTGGTATGGGTGC	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	22/22	630		chr6	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01891.hp2 others(5): Show HG01069.hp2 HG01071.hp1 HG01891.hp2 HG02723.hp2 HG03098.hp1 HG03139.hp2 NA18906.hp2 NA19084.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0011 a0001c0001 a0002c0002 a0010c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0010c0011t0011	a0001c0001t0001g0048 a0001c0001t0003g0036 a0001c0001t0004g0148 others(5): Show a0001c0001t0001g0048 a0001c0001t0003g0036 a0001c0001t0004g0148 a0001c0001t0004g0159 a0001c0001t0004g0169 a0001c0001t0004g0170 a0002c0002t0001g0257 a0010c0011t0011g0049	8	384	0.0208	15	c.-16 others(32): Show c.-16+3661_-16+3675dupTTTTTTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AATF_chr17_36943954_37061871	37001455	G G	GGAAGGAA others(8): Show GGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18994.hp2 HG00280.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0163 a0001c0002t0002g0136 a0001c0001t0001g0163 a0001c0002t0002g0136	2	245	0.0082	15	c.139 others(36): Show c.1398+10598_1398+10599insGAAGGAAGGAAGGAA	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11			chr17	TogoVar
AATF_chr17_36943954_37061871	37052835	A A	AACGCCTA others(8): Show AACGCCTAAGGACTAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	245	0.0041	15	c.162 others(34): Show c.1620-3764_1620-3750dupCGCCTAAGGACTAGA	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATK_chr17_81112295_81171221	81140923	G G	GGACCGTG others(8): Show GGACCGTGAGCTGTGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01516.hp2 HG02280.hp1 others(4): Show HG01358.hp2 HG01516.hp2 HG02280.hp1 HG02602.hp2 NA18975.hp2 NA18977.hp1 NA19079.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0035	a0001c0001 a0001c0011 a0003c0003 others(2): Show a0001c0001 a0001c0011 a0003c0003 a0004c0005 a0035c0063	a0001c0001t0001 a0001c0011t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0011t0001 a0003c0003t0001 a0004c0005t0001 a0035c0063t0001	a0001c0001t0001g0143 a0001c0011t0001g0249 a0003c0003t0001g0240 others(3): Show a0001c0001t0001g0143 a0001c0011t0001g0249 a0003c0003t0001g0240 a0004c0005t0001g0015 a0004c0005t0001g0258 a0035c0063t0001g0111	7	368	0.0190	15	c.56- others(30): Show c.56-6423_56-6422insTCACAGCTCACGGTC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8707353	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0013	a0002c0007t0013g0027 a0002c0007t0013g0027	1	362	0.0028	15	c.-41 others(34): Show c.-41-28343_-41-28329dupTTTTTTTTTTTTTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69146164	A A	AATATATA others(8): Show AATATATATACGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp2 others(5): Show HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02922.hp1 HG03471.hp1 NA19043.hp1 NA20129.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0007 a0007c0008t0004 a0007c0008t0007	a0007c0008t0004g0196 a0007c0008t0007g0006 a0007c0008t0007g0333 others(4): Show a0007c0008t0004g0196 a0007c0008t0007g0006 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335 a0007c0008t0007g0336 a0007c0008t0007g0337	8	348	0.0230	15	c.26 others(26): Show c.2662_*2663insAGTCCGTATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1842		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69146239	T T	TATATATA others(8): Show TATATATATATACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02055.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0006g0009 a0001c0001t0006g0010	2	348	0.0058	15	c.25 others(26): Show c.2587_*2588insTCCGTATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1767		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210081	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01071.hp2 others(22): Show HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02071.hp2 HG02148.hp2 HG02895.hp1 HG03017.hp2 HG03490.hp2 HG03834.hp2 HG04199.hp1 NA18989.hp2 NA19000.hp2 NA19002.hp2 NA19074.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0006 a0001c0001 a0004c0004 a0004c0006	a0001c0001t0002 a0004c0004t0003 a0004c0004t0011 others(2): Show a0001c0001t0002 a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0006t0011	a0001c0001t0002g0258 a0001c0001t0002g0275 a0004c0004t0003g0005 others(21): Show a0001c0001t0002g0258 a0001c0001t0002g0275 a0004c0004t0003g0005 a0004c0004t0003g0007 a0004c0004t0003g0074 a0004c0004t0003g0105 a0004c0004t0003g0207 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0232 a0004c0004t0003g0234 a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0238 a0004c0004t0003g0256 a0004c0004t0003g0271 a0004c0004t0003g0272 a0004c0004t0003g0280 a0004c0004t0003g0304 a0004c0004t0011g0316 a0004c0006t0003g0050 a0004c0006t0003g0053 a0004c0006t0003g0054 a0004c0006t0011g0330	25	348	0.0718	15	c.100 others(34): Show c.1006+4608_1006+4622dupTAATAATAATAATAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69227127	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	348	0.0029	15	c.-17 others(30): Show c.-172+17_-172+18insATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	2/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	215016582	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03710.hp1 HG01106.hp1 HG03710.hp1	a0001 a0017 a0001 a0017	a0001c0006 a0017c0046 a0001c0006 a0017c0046	a0001c0006t0002 a0017c0046t0001 a0001c0006t0002 a0017c0046t0001	a0001c0006t0002g0142 a0017c0046t0001g0046 a0001c0006t0002g0142 a0017c0046t0001g0046	2	198	0.0101	15	c.178 others(32): Show c.1783-934_1783-920dupTTTTTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215086919	T T	TTCATTAT others(8): Show TTCATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02809.hp1 others(7): Show HG02451.hp1 HG02615.hp2 HG02809.hp1 HG02886.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp2 NA18522.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0068 a0003c0020 a0003c0067 others(3): Show a0001c0068 a0003c0020 a0003c0067 a0004c0018 a0004c0059 a0006c0019	a0001c0068t0003 a0003c0020t0001 a0003c0020t0003 others(5): Show a0001c0068t0003 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0067t0025 a0004c0018t0005 a0004c0059t0004 a0006c0019t0001	a0001c0068t0003g0016 a0003c0020t0001g0106 a0003c0020t0003g0108 others(7): Show a0001c0068t0003g0016 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0067t0025g0183 a0004c0018t0005g0095 a0004c0059t0004g0071 a0006c0019t0001g0096 a0006c0019t0001g0099 a0006c0019t0001g0100	10	198	0.0505	15	c.164 others(34): Show c.164-22701_164-22700insTAATAATAATAATGA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215086919	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0009 a0001c0015t0009	a0001c0015t0009g0006 a0001c0015t0009g0006	1	198	0.0051	15	c.164 others(34): Show c.164-22715_164-22701dupTAATAATAATAATAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18944.hp1 HG01074.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0177 a0001c0010t0001g0066 a0001c0001t0001g0177 a0001c0010t0001g0066	2	178	0.0112	15	c.764 others(32): Show c.764-1868_764-1854dupTTTTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48358166	A A	AAGGACAG others(8): Show AAGGACAGAACAGGAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0055 a0055	a0055c0049 a0055c0049	a0055c0049t0001 a0055c0049t0001	a0055c0049t0001g0086 a0055c0049t0001g0086	1	178	0.0056	15	c.106 others(36): Show c.10688+5686_10688+5687insAACAGGACAGGACAG	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48358166	A A	AAGGACAG others(8): Show AAGGACAGGACAGGAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp1 HG02109.hp1 NA19030.hp1	a0005 a0007 a0005 a0007	a0005c0024 a0007c0102 a0005c0024 a0007c0102	a0005c0024t0001 a0007c0102t0001 a0005c0024t0001 a0007c0102t0001	a0005c0024t0001g0018 a0007c0102t0001g0020 a0005c0024t0001g0018 a0007c0102t0001g0020	2	178	0.0112	15	c.106 others(36): Show c.10688+5699_10688+5713dupCAGGACAGGACAGGA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48358222	A A	AAGGGGAG others(8): Show AAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19043.hp2 HG02615.hp2 NA19043.hp2	a0009 a0015 a0009 a0015	a0009c0107 a0015c0076 a0009c0107 a0015c0076	a0009c0107t0001 a0015c0076t0001 a0009c0107t0001 a0015c0076t0001	a0009c0107t0001g0112 a0015c0076t0001g0021 a0009c0107t0001g0112 a0015c0076t0001g0021	2	178	0.0112	15	c.106 others(36): Show c.10688+5767_10688+5781dupGGGGAGGGGAGGGGA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411291	C C	CTTCTTTT others(8): Show CTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03486.hp1 HG02523.hp2 HG03486.hp1	a0020 a0081 a0020 a0081	a0020c0034 a0081c0086 a0020c0034 a0081c0086	a0020c0034t0003 a0081c0086t0009 a0020c0034t0003 a0081c0086t0009	a0020c0034t0003g0117 a0081c0086t0009g0160 a0020c0034t0003g0117 a0081c0086t0009g0160	2	178	0.0112	15	c.122 others(34): Show c.12228+636_12228+650dupTCTTTTCTTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48637381	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01433.hp2 others(10): Show HG00735.hp2 HG01243.hp1 HG01433.hp2 HG03139.hp1 HG03195.hp1 NA18906.hp2 NA18944.hp2 NA18979.hp1 NA18991.hp1 NA19011.hp1 NA19074.hp2 NA19083.hp1 NA20129.hp2	a0001 a0002 a0005 others(8): Show a0001 a0002 a0005 a0006 a0010 a0029 a0042 a0063 a0076 a0083 a0088	a0001c0104 a0002c0065 a0005c0005 others(9): Show a0001c0104 a0002c0065 a0005c0005 a0006c0007 a0006c0023 a0010c0031 a0029c0014 a0042c0113 a0063c0071 a0076c0083 a0083c0077 a0088c0037	a0001c0104t0005 a0002c0065t0006 a0005c0005t0003 others(9): Show a0001c0104t0005 a0002c0065t0006 a0005c0005t0003 a0006c0007t0003 a0006c0023t0003 a0010c0031t0003 a0029c0014t0010 a0042c0113t0003 a0063c0071t0005 a0076c0083t0003 a0083c0077t0003 a0088c0037t0005	a0001c0104t0005g0044 a0002c0065t0006g0128 a0005c0005t0003g0102 others(10): Show a0001c0104t0005g0044 a0002c0065t0006g0128 a0005c0005t0003g0102 a0005c0005t0003g0103 a0006c0007t0003g0137 a0006c0023t0003g0138 a0010c0031t0003g0115 a0029c0014t0010g0174 a0042c0113t0003g0093 a0063c0071t0005g0105 a0076c0083t0003g0145 a0083c0077t0003g0046 a0088c0037t0005g0092	13	178	0.0730	15	c.148 others(36): Show c.14838-5896_14838-5882dupAAAAAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862644	C C	CGGGCAGC others(8): Show CGGGCAGCGCCGGGCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0064 a0004c0064	a0004c0064t0007 a0004c0064t0007	a0004c0064t0007g0175 a0004c0064t0007g0175	1	318	0.0031	15	c.422 others(30): Show c.422-845_422-844insTGCCCGGCGCTGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862661	G G	GCCCCCCA others(8): Show GCCCCCCACCCCCACC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0003 a0004c0043t0003	a0004c0043t0003g0128 a0004c0043t0003g0128	1	318	0.0031	15	c.422 others(30): Show c.422-862_422-861insGGTGGGGGTGGGGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862684	C C	CGGGCAGG others(8): Show CGGGCAGGGCAGGGCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0008 a0002c0024t0008	a0002c0024t0008g0109 a0002c0024t0008g0109	1	318	0.0031	15	c.422 others(30): Show c.422-885_422-884insTGCCCTGCCCTGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862691	G G	GCCCCCCA others(8): Show GCCCCCCACCCCCACC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0007 a0002c0058t0007	a0002c0058t0007g0143 a0002c0058t0007g0143	1	318	0.0031	15	c.422 others(30): Show c.422-892_422-891insGGTGGGGGTGGGGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA4_chr1_93987834_94126148	93994921	A A	ATTCTGGG others(8): Show ATTCTGGGAAACAATT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0002 a0007c0027t0002	a0007c0027t0002g0022 a0007c0027t0002g0022	1	306	0.0033	15	c.681 others(34): Show c.6816+1173_6816+1187dupAATTGTTTCCCAGAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	49/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	93998713	A A	ATTTATTT others(8): Show ATTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp2 NA18906.hp2 HG02809.hp1 HG02895.hp2 NA18906.hp2	a0006 a0030 a0048 a0006 a0030 a0048	a0006c0053 a0030c0070 a0048c0038 a0006c0053 a0030c0070 a0048c0038	a0006c0053t0001 a0030c0070t0001 a0048c0038t0001 a0006c0053t0001 a0030c0070t0001 a0048c0038t0001	a0006c0053t0001g0296 a0030c0070t0001g0298 a0048c0038t0001g0199 a0006c0053t0001g0296 a0030c0070t0001g0298 a0048c0038t0001g0199	3	306	0.0098	15	c.648 others(32): Show c.6480-618_6480-604dupATAAAATAAAATAAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	47/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	93998744	T T	TTTATTTT others(8): Show TTTATTTTATTTTATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02723.hp2 others(1): Show HG02451.hp2 HG02615.hp1 HG02723.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0020 a0003c0031 others(1): Show a0001c0006 a0003c0020 a0003c0031 a0003c0078	a0001c0006t0001 a0003c0020t0001 a0003c0031t0004 others(1): Show a0001c0006t0001 a0003c0020t0001 a0003c0031t0004 a0003c0078t0004	a0001c0006t0001g0145 a0003c0020t0001g0291 a0003c0031t0004g0130 others(1): Show a0001c0006t0001g0145 a0003c0020t0001g0291 a0003c0031t0004g0130 a0003c0078t0004g0264	4	306	0.0131	15	c.648 others(32): Show c.6480-635_6480-634insCATAAAATAAAATAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	47/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94117007	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03041.hp1 HG02109.hp1 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0008 a0001c0006 a0003c0008	a0001c0006t0001 a0003c0008t0002 a0001c0006t0001 a0003c0008t0002	a0001c0006t0001g0147 a0003c0008t0002g0146 a0001c0006t0001g0147 a0003c0008t0002g0146	2	306	0.0065	15	c.67- others(30): Show c.67-3956_67-3942dupGAAAGAAAGAAAGAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp2 HG02615.hp1 others(5): Show HG01071.hp2 HG01891.hp2 HG02615.hp1 HG02647.hp2 HG02717.hp2 HG03041.hp2 HG03471.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0001c0010 a0005c0007 a0001c0004 a0001c0010 a0005c0007	a0001c0004t0017 a0001c0010t0010 a0005c0007t0006 a0001c0004t0017 a0001c0010t0010 a0005c0007t0006	a0001c0004t0017g0323 a0001c0010t0010g0332 a0001c0010t0010g0335 others(5): Show a0001c0004t0017g0323 a0001c0010t0010g0332 a0001c0010t0010g0335 a0005c0007t0006g0340 a0005c0007t0006g0341 a0005c0007t0006g0342 a0005c0007t0006g0344 a0005c0007t0006g0345	8	350	0.0229	15	c.331 others(34): Show c.3315+1023_3315+1037dupAAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar

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