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(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02818.hp1 others(4): Show HG02055.hp1 HG02451.hp1 HG02818.hp1 HG03041.hp1 HG03453.hp2 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0045 a0001c0001t0000g0060 a0001c0001t0000g0069 others(3): Show a0001c0001t0000g0045 a0001c0001t0000g0060 a0001c0001t0000g0069 a0001c0001t0000g0113 a0001c0001t0000g0124 a0001c0001t0000g0259	7	418	0.0168	13	c.336 others(30): Show c.336-1310_336-1298dupAAAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42696121	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00597.hp1 others(78): Show HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02523.hp2 HG02698.hp1 HG03130.hp1 HG03654.hp1 HG03834.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0002t0002	a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0102 others(76): Show a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0229 a0001c0001t0002g0236 a0001c0001t0002g0247 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0326 a0001c0001t0002g0357 a0001c0001t0007g0017 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0046 a0001c0001t0007g0047 a0001c0001t0007g0050 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0016g0056 a0001c0001t0016g0072 a0001c0001t0019g0206 a0001c0001t0019g0324 a0001c0001t0024g0252 a0001c0001t0026g0171 a0001c0002t0002g0196	81	406	0.1995	13	c.-18 others(30): Show c.-187-503_-187-491dupTTTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18946.hp1 NA18998.hp2 HG00558.hp1 NA18946.hp1 NA18998.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0007 a0001c0002t0005 a0003c0004t0006 a0001c0001t0007 a0001c0002t0005 a0003c0004t0006	a0001c0001t0007g0039 a0001c0002t0005g0109 a0003c0004t0006g0223 a0001c0001t0007g0039 a0001c0002t0005g0109 a0003c0004t0006g0223	3	406	0.0074	13	c.-18 others(34): Show c.-188+11729_-188+11730insAAAAAAATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0028	1	406	0.0025	13	c.-18 others(34): Show c.-188+11729_-188+11730insAAAAAAAAATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722222	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01192.hp1 HG01361.hp2 others(4): Show HG00621.hp1 HG01192.hp1 HG01361.hp2 HG01928.hp2 HG01952.hp1 HG02080.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0003 a0001c0002t0015 a0001c0001t0007 a0001c0002t0003 a0001c0002t0015	a0001c0001t0007g0047 a0001c0001t0007g0050 a0001c0001t0007g0064 others(4): Show a0001c0001t0007g0047 a0001c0001t0007g0050 a0001c0001t0007g0064 a0001c0002t0003g0035 a0001c0002t0003g0045 a0001c0002t0003g0078 a0001c0002t0015g0018	7	406	0.0172	13	c.-16 others(24): Show c.-1614_-1613insAAAAAAAAAAAAA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1353		chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722223	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0281 a0004c0005t0010g0281	1	406	0.0025	13	c.-16 others(24): Show c.-1615_-1614insAAAAAAAAAAAAA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1354		chr22	TogoVar
AACS_chr12_125060435_125148316	125103987	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	364	0.0028	13	c.767 others(28): Show c.767+926_767+938dupAAAAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125112678	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18906.hp1 HG03688.hp2 NA18906.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0024 a0001c0001 a0009c0024	a0001c0001t0002 a0009c0024t0001 a0001c0001t0002 a0009c0024t0001	a0001c0001t0002g0187 a0009c0024t0001g0263 a0001c0001t0002g0187 a0009c0024t0001g0263	2	364	0.0055	13	c.916 others(30): Show c.916-1798_916-1786dupAAAAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL4_chr1_12639085_12672076	12658094	T T	TCCTTCCT others(6): Show TCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	310	0.0032	13	c.386 others(30): Show c.386-3696_386-3695insCTTCCTTCCTTCC	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADAT_chr4_170055222_170094956	170056433	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	378	0.0027	13	c.44 others(24): Show c.4494_*4495insATATATATATATA	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3788		chr4	TogoVar
AAGAB_chr15_67195667_67259661	67253260	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp2 NA18965.hp2 others(1): Show HG02109.hp1 HG03471.hp2 NA18965.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 others(1): Show a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0015g0253	4	380	0.0105	13	c.73+ others(28): Show c.73+1286_73+1298dupCCCCCCCCCCCCC	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69488179	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0274 a0001c0001t0147g0274	1	298	0.0034	13	c.236 others(32): Show c.2366-5368_2366-5367insCACACACACACAC	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69490928	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0257 a0001c0001t0004g0257	1	298	0.0034	13	c.236 others(32): Show c.2365+5044_2365+5056dupTGTGTGTGTGTGT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0132 a0002c0002t0132	a0002c0002t0132g0236 a0002c0002t0132g0236	1	298	0.0034	13	c.236 others(32): Show c.2365+2814_2365+2826dupTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69644165	T T	TTCGCGCC others(6): Show TTCGCGCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0079 a0001c0011t0079	a0001c0011t0079g0290 a0001c0011t0079g0290	1	298	0.0034	13	c.-82 others(22): Show c.-826_-825insGGGGGGGGCGCGA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding		427		chr2	TogoVar
AAMDC_chr11_77816144_77877352	77858302	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	382	0.0026	13	c.133 others(32): Show c.133-11407_133-11395dupTTTTTTTTTTTTT	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AARS1_chr16_70247298_70294506	70262996	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02055.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0292 a0001c0001t0002g0264 a0001c0001t0002g0292	2	362	0.0055	13	c.149 others(30): Show c.1493-473_1493-472insGTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	11/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70269322	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG03195.hp2 HG02258.hp2 HG02896.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0339 a0002c0004t0001g0349 a0002c0004t0001g0351 a0002c0004t0001g0339 a0002c0004t0001g0349 a0002c0004t0001g0351	3	362	0.0083	13	c.962 others(28): Show c.962+283_962+295dupTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70272924	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	362	0.0028	13	c.480 others(28): Show c.480-953_480-952insGTGTGTGTGTGTG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70275936	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02970.hp2 others(3): Show HG02258.hp2 HG02572.hp2 HG02970.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0347 a0002c0004t0001g0349 a0002c0004t0001g0350 others(3): Show a0002c0004t0001g0347 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354	6	362	0.0166	13	c.479 others(28): Show c.479+537_479+549dupTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70293597	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	362	0.0028	13	c.-42 others(24): Show c.-4211_-4199dupAAAAAAAAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		4092		chr16	TogoVar
AARSD1_chr17_42945526_42969454	42967515	A A	AATATATA others(6): Show AATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0119 a0004c0005t0001g0119	1	324	0.0031	13	c.-30 others(24): Show c.-3076_-3075insAAAATATATATAT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		3062		chr17	TogoVar
AARSD1_chr17_42945526_42969454	42967519	T T	TATATATT others(6): Show TATATATTTTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	324	0.0031	13	c.-30 others(24): Show c.-3080_-3079insCTATAAAATATAT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		3066		chr17	TogoVar
AASDH_chr4_56333290_56392491	56341389	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19030.hp2 HG02622.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0290 a0003c0003t0002g0291 a0003c0003t0002g0290 a0003c0003t0002g0291	2	382	0.0052	13	c.290 others(32): Show c.2907+1433_2907+1445dupAAAAAAAAAAAAA	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	14/14			chr4	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0254 a0002c0002t0001g0255	2	384	0.0052	13	c.-16 others(30): Show c.-16+3663_-16+3675dupTTTTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AATK_chr17_81112295_81171221	81141928	C C	CTTCCTTC others(6): Show CTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG01891.hp2 HG02145.hp2	a0007 a0023 a0007 a0023	a0007c0008 a0023c0053 a0007c0008 a0023c0053	a0007c0008t0001 a0023c0053t0006 a0007c0008t0001 a0023c0053t0006	a0007c0008t0001g0229 a0023c0053t0006g0228 a0007c0008t0001g0229 a0023c0053t0006g0228	2	368	0.0054	13	c.56- others(28): Show c.56-7440_56-7428dupAGGAAGGAAGGAA	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGGAGA others(6): Show AGAGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0001 a0002c0004t0003g0001	1	362	0.0028	13	c.-41 others(32): Show c.-41-24967_-41-24966insGAGGGAGGGAGGA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8723828	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03704.hp1 HG03710.hp1 others(4): Show HG02135.hp1 HG03704.hp1 HG03710.hp1 NA18977.hp2 NA18994.hp2 NA19056.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 a0002c0002t0009	a0001c0001t0001g0191 a0001c0003t0003g0350 a0002c0002t0002g0197 others(4): Show a0001c0001t0001g0191 a0001c0003t0003g0350 a0002c0002t0002g0197 a0002c0002t0002g0306 a0002c0002t0009g0086 a0002c0002t0009g0192 a0002c0002t0009g0193	7	362	0.0193	13	c.-41 others(32): Show c.-41-11871_-41-11870insATATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15			chr16	TogoVar
ABAT_chr16_8669617_8789570	8754179	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0074 a0002c0002t0004g0074	1	362	0.0028	13	c.317 others(30): Show c.317-3564_317-3552dupAAAAAAAAAAAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69146334	A A	AATATGGA others(6): Show AATATGGAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG02027.hp2 others(7): Show HG00323.hp2 HG01106.hp1 HG02027.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp2 NA18953.hp1 NA18960.hp1 NA19079.hp2	a0002 a0003 a0024 others(1): Show a0002 a0003 a0024 a0026	a0002c0002 a0003c0003 a0024c0027 others(1): Show a0002c0002 a0003c0003 a0024c0027 a0026c0019	a0002c0002t0001 a0003c0003t0001 a0003c0003t0005 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0005 a0024c0027t0001 a0026c0019t0001	a0002c0002t0001g0008 a0002c0002t0001g0043 a0002c0002t0001g0075 others(7): Show a0002c0002t0001g0008 a0002c0002t0001g0043 a0002c0002t0001g0075 a0002c0002t0001g0202 a0002c0002t0001g0279 a0003c0003t0001g0087 a0003c0003t0001g0093 a0003c0003t0005g0324 a0024c0027t0001g0227 a0026c0019t0001g0204	10	348	0.0287	13	c.24 others(24): Show c.2492_*2493insATATATTCCATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1672		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210842	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02895.hp2 HG02896.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0215 a0005c0005t0004g0216	2	348	0.0058	13	c.100 others(32): Show c.1006+3861_1006+3862insTATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	215016582	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02074.hp1 HG02074.hp2 others(9): Show HG01071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02523.hp1 HG03654.hp1 NA18951.hp2 NA18962.hp1 NA19066.hp1 NA19070.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0021 a0001c0029 a0011c0053	a0001c0001t0002 a0001c0001t0020 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0020 a0001c0002t0001 a0001c0004t0001 a0001c0021t0010 a0001c0029t0002 a0011c0053t0002	a0001c0001t0002g0059 a0001c0001t0002g0117 a0001c0001t0002g0118 others(9): Show a0001c0001t0002g0059 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0131 a0001c0001t0002g0140 a0001c0001t0020g0155 a0001c0002t0001g0161 a0001c0004t0001g0029 a0001c0004t0001g0133 a0001c0021t0010g0194 a0001c0029t0002g0031 a0011c0053t0002g0129	12	198	0.0606	13	c.178 others(30): Show c.1783-932_1783-920dupTTTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02523.hp1 HG02083.hp2 HG02523.hp1	a0001 a0041 a0001 a0041	a0001c0001 a0041c0112 a0001c0001 a0041c0112	a0001c0001t0002 a0041c0112t0011 a0001c0001t0002 a0041c0112t0011	a0001c0001t0002g0065 a0041c0112t0011g0114 a0001c0001t0002g0065 a0041c0112t0011g0114	2	178	0.0112	13	c.764 others(30): Show c.764-1866_764-1854dupTTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48401751	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0004 a0018c0029t0004	a0018c0029t0004g0070 a0018c0029t0004g0070	1	178	0.0056	13	c.118 others(34): Show c.11874-1931_11874-1919dupCACACACACACAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48637381	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02809.hp2 HG02886.hp1 others(3): Show HG00738.hp1 HG02809.hp2 HG02886.hp1 HG03834.hp1 NA20905.hp1 NA20905.hp2	a0001 a0004 a0007 others(3): Show a0001 a0004 a0007 a0008 a0011 a0015	a0001c0001 a0004c0008 a0007c0011 others(3): Show a0001c0001 a0004c0008 a0007c0011 a0008c0013 a0011c0017 a0015c0025	a0001c0001t0006 a0004c0008t0005 a0007c0011t0007 others(3): Show a0001c0001t0006 a0004c0008t0005 a0007c0011t0007 a0008c0013t0005 a0011c0017t0003 a0015c0025t0003	a0001c0001t0006g0178 a0004c0008t0005g0169 a0007c0011t0007g0165 others(3): Show a0001c0001t0006g0178 a0004c0008t0005g0169 a0007c0011t0007g0165 a0008c0013t0005g0045 a0011c0017t0003g0067 a0015c0025t0003g0025	6	178	0.0337	13	c.148 others(34): Show c.14838-5894_14838-5882dupAAAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104865515	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0018 a0018	a0018c0079 a0018c0079	a0018c0079t0004 a0018c0079t0004	a0018c0079t0004g0314 a0018c0079t0004g0314	1	318	0.0031	13	c.422 others(30): Show c.422-3728_422-3716dupTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	318	0.0031	13	c.421 others(29): Show c.421+998_421+1010dupTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA5_chr17_69239311_69332133	69274839	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0323 a0001c0004t0017g0323	1	350	0.0029	13	c.259 others(30): Show c.2595-724_2595-712dupAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	19/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303759	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG04204.hp1 HG01123.hp2 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0093 a0001c0008t0001g0049 a0001c0002t0001g0093 a0001c0008t0001g0049	2	350	0.0057	13	c.931 others(28): Show c.931-866_931-854dupTTTTTTTTTTTTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69103911	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01928.hp1 HG03225.hp1 others(1): Show HG01884.hp1 HG01928.hp1 HG03225.hp1 NA19030.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0010 a0002c0002 a0006c0010	a0002c0002t0002 a0006c0010t0001 a0002c0002t0002 a0006c0010t0001	a0002c0002t0002g0240 a0006c0010t0001g0258 a0006c0010t0001g0259 others(1): Show a0002c0002t0002g0240 a0006c0010t0001g0258 a0006c0010t0001g0259 a0006c0010t0001g0260	4	326	0.0123	13	c.274 others(30): Show c.2741-956_2741-944dupAAAAAAAAAAAAA	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	20/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69134888	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19078.hp1 NA19090.hp1 NA18940.hp1 NA19078.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177	3	326	0.0092	13	c.461 others(28): Show c.461-147_461-146insAAAAAAAAAAAAA	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	4/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69146334	A A	AATATGGA others(6): Show AATATGGAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG02622.hp1 others(4): Show HG00323.hp1 HG01106.hp2 HG02622.hp1 HG03688.hp2 HG03942.hp2 HG04184.hp2 NA19075.hp1	a0001 a0002 a0024 a0001 a0002 a0024	a0001c0001 a0002c0002 a0024c0029 a0001c0001 a0002c0002 a0024c0029	a0001c0001t0001 a0002c0002t0002 a0024c0029t0001 a0001c0001t0001 a0002c0002t0002 a0024c0029t0001	a0001c0001t0001g0075 a0001c0001t0001g0163 a0001c0001t0001g0181 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0182 a0002c0002t0002g0201 a0002c0002t0002g0229 a0024c0029t0001g0243	7	326	0.0215	13	c.-46 others(24): Show c.-4636_-4635insATATATTCCATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4440		chr17	TogoVar
ABCB10_chr1_229511582_229563707	229550525	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0118 a0001c0002t0003g0118	1	284	0.0035	13	c.518 others(30): Show c.518-1104_518-1092dupTTTTTTTTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/12			chr1	TogoVar
ABCB1_chr7_87498017_87605884	87589836	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	352	0.0028	13	c.118 others(30): Show c.118-4157_118-4156insTCTCTCTCTCTCT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	3/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20683085	T T	TTAATAAA others(6): Show TTAATAAAAATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02615.hp2 others(8): Show HG02109.hp2 HG02559.hp1 HG02615.hp2 HG02922.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA18906.hp1 NA19030.hp1 NA21309.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0007 a0010 a0023 a0027 a0048 a0053	a0001c0001 a0002c0012 a0002c0041 others(8): Show a0001c0001 a0002c0012 a0002c0041 a0004c0008 a0007c0011 a0010c0026 a0010c0042 a0023c0046 a0027c0028 a0048c0078 a0053c0090	a0001c0001t0001 a0002c0012t0001 a0002c0041t0001 others(8): Show a0001c0001t0001 a0002c0012t0001 a0002c0041t0001 a0004c0008t0005 a0007c0011t0004 a0010c0026t0004 a0010c0042t0004 a0023c0046t0001 a0027c0028t0001 a0048c0078t0004 a0053c0090t0004	a0001c0001t0001g0346 a0002c0012t0001g0121 a0002c0041t0001g0119 others(8): Show a0001c0001t0001g0346 a0002c0012t0001g0121 a0002c0041t0001g0119 a0004c0008t0005g0341 a0007c0011t0004g0124 a0010c0026t0004g0126 a0010c0042t0004g0120 a0023c0046t0001g0089 a0027c0028t0001g0343 a0048c0078t0004g0342 a0053c0090t0004g0125	11	360	0.0306	13	c.186 others(32): Show c.1869+1419_1869+1420insTAATAAAAATATA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	15/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20704075	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01243.hp1 others(9): Show HG01069.hp1 HG01071.hp2 HG01243.hp1 HG02451.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp1 HG03453.hp2 NA19091.hp1 NA21309.hp1	a0001 a0002 a0007 others(7): Show a0001 a0002 a0007 a0011 a0018 a0019 a0024 a0025 a0047 a0052	a0001c0001 a0002c0003 a0007c0011 others(7): Show a0001c0001 a0002c0003 a0007c0011 a0011c0025 a0018c0037 a0019c0036 a0024c0093 a0025c0030 a0047c0059 a0052c0092	a0001c0001t0001 a0002c0003t0003 a0007c0011t0004 others(7): Show a0001c0001t0001 a0002c0003t0003 a0007c0011t0004 a0011c0025t0001 a0018c0037t0001 a0019c0036t0001 a0024c0093t0001 a0025c0030t0005 a0047c0059t0003 a0052c0092t0005	a0001c0001t0001g0254 a0002c0003t0003g0015 a0007c0011t0004g0058 others(9): Show a0001c0001t0001g0254 a0002c0003t0003g0015 a0007c0011t0004g0058 a0007c0011t0004g0059 a0011c0025t0001g0094 a0018c0037t0001g0074 a0019c0036t0001g0073 a0024c0093t0001g0075 a0025c0030t0005g0159 a0025c0030t0005g0344 a0047c0059t0003g0012 a0052c0092t0005g0082	12	360	0.0333	13	c.233 others(30): Show c.2338-645_2338-633dupTTTTTTTTTTTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20712158	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA21309.hp2 HG01891.hp1 NA21309.hp2	a0023 a0026 a0023 a0026	a0023c0046 a0026c0029 a0023c0046 a0026c0029	a0023c0046t0001 a0026c0029t0001 a0023c0046t0001 a0026c0029t0001	a0023c0046t0001g0089 a0026c0029t0001g0280 a0023c0046t0001g0089 a0026c0029t0001g0280	2	360	0.0056	13	c.242 others(32): Show c.2421+7363_2421+7375dupAAAAAAAAAAAAA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20720535	T T	TAAGATTC others(6): Show TAAGATTCTTACCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(248): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(48): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0023 a0025 a0026 a0027 a0028 a0030 a0032 a0033 a0034 a0035 a0037 a0038 a0039 a0040 a0041 a0042 a0044 a0046 a0048 a0052 a0054 a0055 a0056 a0058 a0059 a0061 a0062 a0063 a0066 a0068 a0071	a0001c0001 a0001c0005 a0001c0064 others(73): Show a0001c0001 a0001c0005 a0001c0064 a0001c0077 a0002c0003 a0002c0012 a0002c0014 a0002c0035 a0002c0041 a0002c0048 a0003c0002 a0003c0010 a0003c0053 a0004c0004 a0004c0008 a0005c0015 a0006c0007 a0006c0019 a0007c0011 a0007c0016 a0007c0047 a0008c0009 a0008c0027 a0009c0018 a0009c0020 a0010c0026 a0010c0031 a0010c0042 a0010c0094 a0011c0017 a0011c0025 a0012c0013 a0012c0080 a0013c0022 a0013c0023 a0014c0024 a0014c0063 a0015c0040 a0015c0106 a0016c0021 a0017c0084 a0019c0036 a0020c0075 a0020c0076 a0021c0033 a0023c0046 a0025c0030 a0026c0029 a0027c0028 a0028c0034 a0030c0038 a0032c0108 a0033c0103 a0034c0105 a0035c0104 a0037c0102 a0038c0049 a0039c0058 a0040c0050 a0041c0055 a0042c0052 a0044c0056 a0046c0057 a0048c0078 a0052c0092 a0054c0091 a0055c0088 a0056c0060 a0058c0067 a0059c0066 a0061c0081 a0062c0083 a0063c0082 a0066c0100 a0068c0097 a0071c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(103): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0005t0001 a0001c0064t0001 a0001c0077t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 a0002c0003t0009 a0002c0012t0001 a0002c0012t0003 a0002c0014t0001 a0002c0014t0003 a0002c0014t0011 a0002c0035t0001 a0002c0035t0005 a0002c0041t0001 a0002c0048t0012 a0003c0002t0001 a0003c0002t0002 a0003c0002t0015 a0003c0010t0001 a0003c0010t0002 a0003c0053t0001 a0004c0004t0001 a0004c0004t0002 a0004c0008t0001 a0004c0008t0002 a0004c0008t0006 a0005c0015t0004 a0006c0007t0001 a0006c0019t0001 a0006c0019t0002 a0007c0011t0001 a0007c0011t0004 a0007c0016t0003 a0007c0016t0006 a0007c0047t0004 a0008c0009t0001 a0008c0009t0002 a0008c0027t0001 a0008c0027t0002 a0009c0018t0001 a0009c0018t0004 a0009c0018t0008 a0009c0020t0001 a0010c0026t0004 a0010c0026t0006 a0010c0031t0004 a0010c0031t0009 a0010c0042t0004 a0010c0094t0004 a0011c0017t0003 a0011c0017t0007 a0011c0025t0001 a0011c0025t0007 a0012c0013t0001 a0012c0013t0002 a0012c0080t0001 a0013c0022t0001 a0013c0022t0021 a0013c0023t0001 a0014c0024t0001 a0014c0063t0001 a0015c0040t0001 a0015c0040t0002 a0015c0106t0002 a0016c0021t0001 a0016c0021t0014 a0017c0084t0004 a0019c0036t0001 a0020c0075t0001 a0020c0076t0001 a0021c0033t0003 a0023c0046t0001 a0025c0030t0005 a0026c0029t0001 a0027c0028t0001 a0028c0034t0001 a0030c0038t0016 a0032c0108t0004 a0033c0103t0019 a0034c0105t0001 a0035c0104t0001 a0037c0102t0023 a0038c0049t0004 a0039c0058t0001 a0040c0050t0001 a0041c0055t0001 a0042c0052t0002 a0044c0056t0001 a0046c0057t0008 a0048c0078t0004 a0052c0092t0005 a0054c0091t0004 a0055c0088t0004 a0056c0060t0004 a0058c0067t0006 a0059c0066t0004 a0061c0081t0008 a0062c0083t0002 a0063c0082t0001 a0066c0100t0005 a0068c0097t0004 a0071c0044t0001	a0001c0001t0001g0054 a0001c0001t0001g0138 a0001c0001t0001g0141 others(248): Show a0001c0001t0001g0054 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0002g0146 a0001c0001t0002g0155 a0001c0001t0002g0255 a0001c0001t0002g0268 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0010g0289 a0001c0001t0010g0332 a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0001g0260 a0001c0005t0001g0266 a0001c0005t0001g0267 a0001c0005t0001g0270 a0001c0005t0001g0271 a0001c0005t0001g0275 a0001c0005t0001g0285 a0001c0005t0001g0311 a0001c0005t0001g0333 a0001c0005t0001g0355 a0001c0064t0001g0246 a0001c0077t0001g0245 a0002c0003t0001g0349 a0002c0003t0003g0005 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0039 a0002c0003t0003g0040 a0002c0003t0003g0045 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0007g0033 a0002c0003t0009g0008 a0002c0012t0001g0088 a0002c0012t0001g0090 a0002c0012t0001g0121 a0002c0012t0001g0359 a0002c0012t0001g0360 a0002c0012t0003g0011 a0002c0014t0001g0234 a0002c0014t0001g0235 a0002c0014t0003g0002 a0002c0014t0003g0049 a0002c0014t0011g0007 a0002c0035t0001g0070 a0002c0035t0005g0091 a0002c0041t0001g0119 a0002c0048t0012g0060 a0003c0002t0001g0117 a0003c0002t0001g0137 a0003c0002t0001g0192 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0198 a0003c0002t0001g0201 a0003c0002t0001g0204 a0003c0002t0001g0207 a0003c0002t0001g0208 a0003c0002t0001g0209 a0003c0002t0001g0210 a0003c0002t0001g0223 a0003c0002t0001g0224 a0003c0002t0001g0227 a0003c0002t0001g0229 a0003c0002t0001g0231 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0236 a0003c0002t0001g0312 a0003c0002t0001g0315 a0003c0002t0001g0326 a0003c0002t0001g0338 a0003c0002t0002g0191 a0003c0002t0002g0225 a0003c0002t0015g0318 a0003c0010t0001g0131 a0003c0010t0001g0203 a0003c0010t0001g0240 a0003c0010t0001g0317 a0003c0010t0001g0327 a0003c0010t0002g0193 a0003c0010t0002g0226 a0003c0010t0002g0316 a0003c0010t0002g0328 a0003c0053t0001g0262 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0144 a0004c0004t0001g0145 a0004c0004t0001g0190 a0004c0004t0001g0319 a0004c0004t0001g0337 a0004c0004t0002g0085 a0004c0004t0002g0116 a0004c0004t0002g0149 a0004c0004t0002g0150 a0004c0004t0002g0151 a0004c0004t0002g0156 a0004c0004t0002g0158 a0004c0004t0002g0282 a0004c0004t0002g0290 a0004c0004t0002g0334 a0004c0008t0001g0274 a0004c0008t0002g0261 a0004c0008t0002g0273 a0004c0008t0002g0286 a0004c0008t0002g0288 a0004c0008t0002g0300 a0004c0008t0006g0118 a0005c0015t0004g0281 a0006c0007t0001g0135 a0006c0007t0001g0136 a0006c0007t0001g0163 a0006c0007t0001g0166 a0006c0007t0001g0170 a0006c0007t0001g0178 a0006c0007t0001g0179 a0006c0007t0001g0307 a0006c0007t0001g0308 a0006c0007t0001g0340 a0006c0019t0001g0175 a0006c0019t0001g0303 a0006c0019t0002g0339 a0007c0011t0001g0077 a0007c0011t0001g0078 a0007c0011t0001g0079 a0007c0011t0001g0080 a0007c0011t0004g0067 a0007c0016t0003g0010 a0007c0016t0003g0051 a0007c0016t0006g0057 a0007c0047t0004g0063 a0008c0009t0001g0199 a0008c0009t0001g0206 a0008c0009t0001g0221 a0008c0009t0001g0228 a0008c0009t0001g0230 a0008c0009t0001g0350 a0008c0009t0002g0211 a0008c0009t0002g0215 a0008c0009t0002g0222 a0008c0027t0001g0324 a0008c0027t0002g0314 a0009c0018t0001g0177 a0009c0018t0004g0164 a0009c0018t0008g0171 a0009c0020t0001g0176 a0010c0026t0004g0072 a0010c0026t0004g0126 a0010c0026t0006g0083 a0010c0031t0004g0134 a0010c0031t0009g0006 a0010c0042t0004g0120 a0010c0094t0004g0068 a0011c0017t0003g0004 a0011c0017t0007g0042 a0011c0017t0007g0052 a0011c0025t0001g0094 a0011c0025t0007g0024 a0012c0013t0001g0099 a0012c0013t0001g0101 a0012c0013t0001g0110 a0012c0013t0001g0251 a0012c0013t0002g0109 a0012c0013t0002g0113 a0012c0080t0001g0104 a0013c0022t0001g0217 a0013c0022t0001g0259 a0013c0022t0021g0202 a0013c0023t0001g0219 a0014c0024t0001g0248 a0014c0063t0001g0244 a0015c0040t0001g0169 a0015c0040t0002g0168 a0015c0106t0002g0180 a0016c0021t0001g0103 a0016c0021t0001g0106 a0016c0021t0014g0105 a0017c0084t0004g0122 a0019c0036t0001g0071 a0020c0075t0001g0357 a0020c0076t0001g0269 a0021c0033t0003g0037 a0021c0033t0003g0038 a0023c0046t0001g0089 a0025c0030t0005g0159 a0025c0030t0005g0344 a0026c0029t0001g0280 a0027c0028t0001g0343 a0028c0034t0001g0108 a0030c0038t0016g0352 a0032c0108t0004g0061 a0033c0103t0019g0172 a0034c0105t0001g0304 a0035c0104t0001g0174 a0037c0102t0023g0043 a0038c0049t0004g0348 a0039c0058t0001g0325 a0040c0050t0001g0313 a0041c0055t0001g0238 a0042c0052t0002g0239 a0044c0056t0001g0200 a0046c0057t0008g0237 a0048c0078t0004g0342 a0052c0092t0005g0082 a0054c0091t0004g0066 a0055c0088t0004g0076 a0056c0060t0004g0252 a0058c0067t0006g0330 a0059c0066t0004g0253 a0061c0081t0008g0111 a0062c0083t0002g0112 a0063c0082t0001g0102 a0066c0100t0005g0097 a0068c0097t0004g0098 a0071c0044t0001g0130	251	360	0.6972	13	c.242 others(32): Show c.2422-2476_2422-2475insTCTTACCAAAGAT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB7_chrX_75046048_75161283	75047101	A A	ACACACAC others(6): Show ACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0013 a0002c0002t0003g0013	1	232	0.0043	13	c.62 others(24): Show c.6268_*6269insGTGTGTGTGTGTG	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding		3946		chrX	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02976.hp2 others(6): Show HG01167.hp1 HG01169.hp2 HG02976.hp2 HG03831.hp1 NA18961.hp1 NA18970.hp1 NA18990.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 a0001c0001t0025	a0001c0001t0001g0039 a0001c0001t0001g0170 a0001c0001t0001g0172 others(6): Show a0001c0001t0001g0039 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0002g0115 a0001c0001t0008g0048 a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0016g0216 a0001c0001t0025g0103	9	232	0.0388	13	c.334 others(30): Show c.334-4999_334-4987dupAAAAAAAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar

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