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
ARSB_chr5_78772209_78990310	78841168	C C	CTACTAAT others(17): Show CTACTAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0124 a0003c0004t0001g0124	1	360	0.0028	24	c.114 others(43): Show c.1143-1743_1143-1742insTTATTATTATTATTATTATTAGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(17): Show CTACTACTAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0262 a0001c0003t0002g0262	1	360	0.0028	24	c.114 others(43): Show c.1143-1743_1143-1742insTTATTATTATTATTATTAGTAGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(17): Show CTACTACTACTACTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01192.hp1 HG01981.hp1 others(1): Show HG01167.hp2 HG01192.hp1 HG01981.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0007 a0001c0003t0025 others(1): Show a0001c0003t0002 a0001c0003t0007 a0001c0003t0025 a0001c0003t0058	a0001c0003t0002g0160 a0001c0003t0007g0132 a0001c0003t0025g0341 others(1): Show a0001c0003t0002g0160 a0001c0003t0007g0132 a0001c0003t0025g0341 a0001c0003t0058g0045	4	360	0.0111	24	c.114 others(43): Show c.1143-1743_1143-1742insTTATTATTATTAGTAGTAGTAGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(17): Show CTACTACTACTACTACTAATAATAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02647.hp1 HG01074.hp1 HG02647.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0012 a0001c0003 a0007c0012	a0001c0003t0012 a0007c0012t0032 a0001c0003t0012 a0007c0012t0032	a0001c0003t0012g0350 a0007c0012t0032g0180 a0001c0003t0012g0350 a0007c0012t0032g0180	2	360	0.0056	24	c.114 others(43): Show c.1143-1743_1143-1742insTTATTATTAGTAGTAGTAGTAGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(17): Show CTACTACTACTACTACTACTACTAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02738.hp1 HG03041.hp1 HG02615.hp2 HG02738.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0021 a0001c0003 a0001c0021	a0001c0003t0002 a0001c0003t0073 a0001c0021t0003 a0001c0003t0002 a0001c0003t0073 a0001c0021t0003	a0001c0003t0002g0269 a0001c0003t0073g0099 a0001c0021t0003g0358 a0001c0003t0002g0269 a0001c0003t0073g0099 a0001c0021t0003g0358	3	360	0.0083	24	c.114 others(43): Show c.1143-1743_1143-1742insTTAGTAGTAGTAGTAGTAGTAGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78891860	T T	TTTTATGA others(17): Show TTTTATGACCATCATCACTTTCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02451.hp1 others(6): Show HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0001c0005 a0001c0015 others(1): Show a0001c0003 a0001c0005 a0001c0015 a0005c0016	a0001c0003t0002 a0001c0003t0006 a0001c0003t0034 others(6): Show a0001c0003t0002 a0001c0003t0006 a0001c0003t0034 a0001c0003t0035 a0001c0005t0032 a0001c0005t0035 a0001c0005t0076 a0001c0015t0027 a0005c0016t0002	a0001c0003t0002g0354 a0001c0003t0006g0103 a0001c0003t0034g0071 others(6): Show a0001c0003t0002g0354 a0001c0003t0006g0103 a0001c0003t0034g0071 a0001c0003t0035g0357 a0001c0005t0032g0117 a0001c0005t0035g0165 a0001c0005t0076g0268 a0001c0015t0027g0102 a0005c0016t0002g0237	9	360	0.0250	24	c.899 others(41): Show c.899-6057_899-6034dupGGGGAAAGTGATGATGGTCATAAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78972516	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03041.hp2 HG02615.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0018 a0001c0008t0008 a0001c0001t0018 a0001c0008t0008	a0001c0001t0018g0130 a0001c0008t0008g0118 a0001c0001t0018g0130 a0001c0008t0008g0118	2	360	0.0056	24	c.313 others(41): Show c.313-3348_313-3325dupGTGTGTGTGTGTGTGTGTGTGTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSF_chrX_3036471_3117727	3077789	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	193	0.0052	24	c.283 others(41): Show c.283+1126_283+1149dupATTATTATTATTATTATTATTATT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3035498	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02055.hp1 HG02559.hp1 others(1): Show HG00423.hp2 HG02055.hp1 HG02559.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0138 a0001c0001t0001g0174 others(1): Show a0001c0001t0001g0078 a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0001g0175	4	248	0.0161	24	c.21 others(35): Show c.2113_*2114insTGTGTGTGTGTGGAGAGAGAGAGA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		1388		chrX	TogoVar
ARX_chrX_24998694_25020965	25018639	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 NA18992.hp2 HG01981.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0011 a0001c0001t0008g0081 a0001c0001t0001g0011 a0001c0001t0008g0081	2	300	0.0067	24	c.-29 others(35): Show c.-2903_-2902insTATATATATATATATATATATATA	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		2675		chrX	TogoVar
AS3MT_chr10_102864470_102906899	102889607	T T	TCTGCCTG others(17): Show TCTGCCTGCCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03492.hp2 HG03704.hp2 HG02257.hp1 HG03492.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0013 a0001c0001t0020 a0001c0009t0013 a0001c0001t0013 a0001c0001t0020 a0001c0009t0013	a0001c0001t0013g0215 a0001c0001t0020g0168 a0001c0009t0013g0262 a0001c0001t0013g0215 a0001c0001t0020g0168 a0001c0009t0013g0262	3	362	0.0083	24	c.886 others(39): Show c.886-927_886-926insGCCTGCCTGCCTGCCTGCCTGCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(17): Show GCCTGCCTGCCTGCCTGCCTGCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18954.hp2 NA18991.hp2 others(2): Show HG02717.hp1 NA18954.hp2 NA18991.hp2 NA19005.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0007 a0001c0001t0002g0154 a0001c0001t0002g0157 others(1): Show a0001c0001t0002g0007 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0006g0174	5	362	0.0138	24	c.886 others(39): Show c.886-927_886-926insGCCTGCCTGCCTGCCTGCCTTCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(17): Show GCCTGCCTGCCTGCCTGCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01943.hp1 HG01978.hp2 others(8): Show HG01358.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp2 HG02257.hp2 HG02809.hp2 HG03834.hp2 NA18961.hp1 NA18968.hp2 NA19004.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0002 a0001c0001t0007 a0001c0001t0015	a0001c0001t0002g0009 a0001c0001t0002g0103 a0001c0001t0002g0104 others(7): Show a0001c0001t0002g0009 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0122 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0007g0124 a0001c0001t0015g0152	11	362	0.0304	24	c.886 others(39): Show c.886-927_886-926insGCCTGCCTGCCTGCCTTCCTTCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0097 a0001c0001t0005g0097	1	362	0.0028	24	c.55 others(35): Show c.5576_*5577insAAAAAAAAATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0087 a0001c0001t0028g0087	1	362	0.0028	24	c.55 others(35): Show c.5576_*5577insAAAAATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18977.hp1 NA18747.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0095 a0001c0001t0005g0006 a0001c0001t0005g0095	2	362	0.0055	24	c.55 others(35): Show c.5576_*5577insAAATATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 NA19007.hp1 HG01255.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0076 a0001c0001t0005g0090 a0001c0001t0003g0076 a0001c0001t0005g0090	2	362	0.0055	24	c.55 others(35): Show c.5576_*5577insATATATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
ASAP1_chr8_130047104_130448674	130072791	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0290 a0001c0001t0018g0290	1	308	0.0033	24	c.270 others(43): Show c.2701+3556_2701+3557insCACACACACACACACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	308	0.0033	24	c.270 others(43): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	308	0.0033	24	c.270 others(43): Show c.2701+3523_2701+3524insGCACACACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGCGTGT others(17): Show GTGCGTGTGCGCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01993.hp1 HG02071.hp2 others(9): Show HG00544.hp2 HG01993.hp1 HG02071.hp2 HG03942.hp1 HG04184.hp1 NA18942.hp1 NA18944.hp1 NA18952.hp2 NA18957.hp2 NA18998.hp1 NA19009.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 others(1): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0002c0002t0020	a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0114 others(9): Show a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0114 a0002c0002t0003g0119 a0002c0002t0003g0122 a0002c0002t0003g0140 a0002c0002t0003g0264 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0004g0107 a0002c0002t0015g0239 a0002c0002t0020g0300	12	308	0.0390	24	c.270 others(43): Show c.2701+3522_2701+3523insTGCGCGCGCGCGCGCGCACACGCA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGCGT others(17): Show GTGTGCGTGTGCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01361.hp1 others(6): Show HG00423.hp1 HG00597.hp1 HG01361.hp1 HG02080.hp1 HG04204.hp1 NA18947.hp1 NA18948.hp1 NA18982.hp1 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0121 a0002c0002t0003g0126 others(6): Show a0002c0002t0003g0055 a0002c0002t0003g0121 a0002c0002t0003g0126 a0002c0002t0003g0131 a0002c0002t0003g0136 a0002c0002t0003g0197 a0002c0002t0003g0250 a0002c0002t0003g0273 a0002c0002t0003g0275	9	308	0.0292	24	c.270 others(43): Show c.2701+3522_2701+3523insTGCGCGCGCGCGCGCACACGCACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGCGT others(17): Show GTGTGCGTGTGCGCGTGCGCGCGCA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0117 a0002c0002t0003g0117	1	308	0.0033	24	c.270 others(43): Show c.2701+3522_2701+3523insTGCGCGCGCACGCGCACACGCACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130098967	T T	TATACTCT others(17): Show TATACTCTCTACTAATATAAGCTCA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0182 a0001c0004t0002g0182	1	308	0.0033	24	c.240 others(43): Show c.2402-6848_2402-6825dupTGAGCTTATATTAGTAGAGAGTAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02723.hp1 HG03195.hp2 HG01496.hp2 HG02723.hp1 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0012 a0004c0012t0027 a0001c0001t0012 a0004c0012t0027	a0001c0001t0012g0296 a0001c0001t0012g0298 a0004c0012t0027g0233 a0001c0001t0012g0296 a0001c0001t0012g0298 a0004c0012t0027g0233	3	308	0.0097	24	c.240 others(43): Show c.2402-9590_2402-9589insAAAAAAAAAAAAAAAAAAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153339	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	308	0.0033	24	c.101 others(41): Show c.1011-535_1011-534insCATATATATATATATATATATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(17): Show ACACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0140 a0002c0002t0003g0140	1	308	0.0033	24	c.187 others(43): Show c.187-39735_187-39734insAGAGAGAGAGAGTGTGTGTGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276760	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	308	0.0033	24	c.187 others(43): Show c.187-39767_187-39766insGGAGAGAGAGAGAGAGAGAGAGAG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACAGAGA others(17): Show CACAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	308	0.0033	24	c.186 others(43): Show c.186+57863_186+57864insCTCTCTCTCTCTCTCTCTCTCTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	210	0.0048	24	c.127 others(43): Show c.127-25062_127-25061insTATATATATATATACACACACACA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	210	0.0048	24	c.127 others(43): Show c.127-25062_127-25061insTATATATATATATATACACACACA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0029 a0001c0003t0001g0029	1	210	0.0048	24	c.127 others(43): Show c.127-25062_127-25061insTATATATATATATATATATATACA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9270785	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0122 a0002c0001t0001g0122	1	210	0.0048	24	c.127 others(41): Show c.127-8530_127-8507dupTTTTTTTTTTTTTTTTTTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9317117	A A	ATCACTCA others(17): Show ATCACTCACATCCACATTCACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00642.hp2 others(55): Show HG00280.hp1 HG00323.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01975.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA19070.hp2 NA19079.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(4): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0002c0001 a0002c0005 a0003c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011 a0001c0009t0004 a0001c0012t0003 a0002c0001t0001 a0002c0001t0003 a0002c0005t0001 a0003c0014t0003	a0001c0002t0001g0097 a0001c0002t0002g0007 a0001c0002t0002g0016 others(55): Show a0001c0002t0001g0097 a0001c0002t0002g0007 a0001c0002t0002g0016 a0001c0002t0002g0027 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0069 a0001c0002t0002g0096 a0001c0002t0002g0107 a0001c0002t0002g0129 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0162 a0001c0002t0002g0177 a0001c0002t0002g0187 a0001c0002t0002g0198 a0001c0002t0002g0202 a0001c0002t0003g0026 a0001c0002t0003g0050 a0001c0002t0003g0052 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0094 a0001c0002t0003g0124 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0147 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0166 a0001c0002t0003g0209 a0001c0002t0012g0143 a0001c0002t0013g0001 a0001c0002t0022g0120 a0001c0002t0023g0008 a0001c0003t0001g0165 a0001c0003t0001g0210 a0001c0003t0004g0200 a0001c0003t0007g0170 a0001c0003t0007g0199 a0001c0003t0011g0068 a0001c0009t0004g0047 a0001c0012t0003g0033 a0002c0001t0001g0012 a0002c0001t0001g0053 a0002c0001t0001g0078 a0002c0001t0001g0140 a0002c0001t0001g0155 a0002c0001t0003g0136 a0002c0005t0001g0003 a0002c0005t0001g0025 a0002c0005t0001g0098 a0003c0014t0003g0051	58	210	0.2762	24	c.346 others(41): Show c.346-1403_346-1402insTCACATCCACATTCACACACTCAC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0044 a0001c0003t0004g0044	1	210	0.0048	24	c.268 others(43): Show c.2685-2272_2685-2271insATATATATATATTTTTTTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB14_chr3_57263342_57297685	57284094	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01928.hp1 HG01993.hp2 others(19): Show HG01070.hp2 HG01928.hp1 HG01993.hp2 HG02132.hp2 HG02293.hp1 HG02559.hp1 HG02647.hp2 HG02717.hp1 HG03831.hp1 NA18966.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18999.hp1 NA19007.hp1 NA19010.hp2 NA19084.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0003 a0001c0001t0001 a0001c0001t0006 a0002c0002t0003	a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0057 others(15): Show a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0006g0148 a0002c0002t0003g0033	22	336	0.0655	24	c.470 others(39): Show c.470-679_470-656dupCACACACACACACACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB15_chr7_123596821_123644481	123637878	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01074.hp2 others(12): Show HG00639.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG02040.hp2 HG02129.hp2 HG03490.hp1 NA18612.hp1 NA18939.hp2 NA18946.hp1 NA18969.hp1 NA19068.hp2 NA19240.hp2 NA20905.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0006 a0011c0012 a0001c0001 a0003c0006 a0011c0012	a0001c0001t0006 a0001c0001t0035 a0003c0006t0006 others(1): Show a0001c0001t0006 a0001c0001t0035 a0003c0006t0006 a0011c0012t0006	a0001c0001t0006g0003 a0001c0001t0006g0005 a0001c0001t0006g0032 others(10): Show a0001c0001t0006g0003 a0001c0001t0006g0005 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0067 a0001c0001t0006g0077 a0001c0001t0006g0084 a0001c0001t0006g0237 a0001c0001t0035g0064 a0003c0006t0006g0185 a0003c0006t0006g0187 a0011c0012t0006g0085	15	380	0.0395	24	c.91 others(33): Show c.919_*920insAAAAAAAAAAAAAAAAAAAAAAAA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12	920	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB18_chr2_236188459_236269406	236202814	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	250	0.0040	24	c.110 others(43): Show c.1102-6430_1102-6429insGTGTGTGTATATATATATATATAT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB5_chr4_176208673_176274222	176218757	G G	GATATATA others(17): Show GATATATAAATATATATATATTTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0291 a0001c0002t0001g0291	1	410	0.0024	24	c.671 others(41): Show c.671-1749_671-1748insACAAATATATATATATTTATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB7_chr15_100597589_100656701	100611484	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	368	0.0027	24	c.-51 others(39): Show c.-51-669_-51-668insTTTTTTTTTTTTTTTTTTTTTTTT	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASCC1_chr10_72091032_72221276	72218145	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	216	0.0046	24	c.-19 others(35): Show c.-1973_-1972insTTTTTTTTTTTTTTTTTTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1870		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18940.hp2 NA19006.hp1 others(1): Show HG02055.hp2 NA18940.hp2 NA19006.hp1 NA19063.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0003 a0003c0004 a0006c0009 a0002c0003 a0003c0004 a0006c0009	a0002c0003t0002 a0003c0004t0001 a0006c0009t0004 a0002c0003t0002 a0003c0004t0001 a0006c0009t0004	a0002c0003t0002g0009 a0002c0003t0002g0010 a0003c0004t0001g0288 others(1): Show a0002c0003t0002g0009 a0002c0003t0002g0010 a0003c0004t0001g0288 a0006c0009t0004g0192	4	314	0.0127	24	c.530 others(43): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608073	T T	TATATATG others(17): Show TATATATGTATATATCGATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp1 HG03471.hp2 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0286 a0003c0004t0001g0287 a0003c0004t0001g0286 a0003c0004t0001g0287	2	314	0.0064	24	c.478 others(41): Show c.4786-986_4786-985insGTATATATCGATATATACATATAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608101	T T	TATATATG others(17): Show TATATATGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0005 a0012c0018t0002g0005	1	314	0.0032	24	c.478 others(43): Show c.4786-1014_4786-1013insGTATATATATATATATACATATAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608129	T T	TATATGTA others(17): Show TATATGTATATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0019 a0019	a0019c0016 a0019c0016	a0019c0016t0002 a0019c0016t0002	a0019c0016t0002g0160 a0019c0016t0002g0160	1	314	0.0032	24	c.478 others(43): Show c.4786-1042_4786-1041insGTATATATACATATATATACATAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(17): Show TTATATATATATATTTATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0104 a0001c0002t0003g0104	1	314	0.0032	24	c.478 others(43): Show c.4786-1644_4786-1643insTATATATATAAATATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(17): Show TTATATATATATATTTTTATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0129 a0001c0002t0003g0129	1	314	0.0032	24	c.478 others(43): Show c.4786-1644_4786-1643insTATATATAAAAATATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962423	T T	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0001 a0002c0002t0006g0001	1	354	0.0028	24	c.31 others(35): Show c.3109_*3110insCTTTCTTTCTTTCTTTCTTTCTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1911		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962435	T T	TCATTCTT others(17): Show TCATTCTTTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	354	0.0028	24	c.31 others(35): Show c.3121_*3122insCATTCTTTCTTTCTTTCTTTCTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1923		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962438	T T	TCCTTCCT others(17): Show TCCTTCCTTCCTTTCTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0006 a0002c0009t0006	a0002c0009t0006g0001 a0002c0009t0006g0001	1	354	0.0028	24	c.31 others(35): Show c.3124_*3125insCCTTCCTTCCTTTCTCTTTCTTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1926		chr12	TogoVar

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