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
ASCL1_chr12_102952674_102965513	102962440	C C	CTTCCTTC others(17): Show CTTCCTTCCTTCCTTTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0001 a0002c0011t0002g0001	1	354	0.0028	24	c.31 others(35): Show c.3126_*3127insTTCCTTCCTTCCTTTCTCTTTCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962448	T T	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTCCTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	24	c.31 others(35): Show c.3134_*3135insCTTTCTTTCTTTCTTCCTTCTTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1936		chr12	TogoVar
ASGR2_chr17_7096326_7119822	7097674	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02615.hp2 others(1): Show HG02055.hp2 HG02109.hp2 HG02615.hp2 HG02922.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0015 a0001c0001 a0001c0002 a0004c0015	a0001c0001t0001 a0001c0002t0001 a0004c0015t0001 a0001c0001t0001 a0001c0002t0001 a0004c0015t0001	a0001c0001t0001g0204 a0001c0002t0001g0011 a0004c0015t0001g0215 a0001c0001t0001g0204 a0001c0002t0001g0011 a0004c0015t0001g0215	4	432	0.0093	24	c.39 others(35): Show c.3900_*3901insCACACACACACACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3651		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155411578	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18983.hp1 HG03834.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0147 a0001c0001t0001g0118 a0001c0001t0001g0147	2	182	0.0110	24	c.600 others(43): Show c.6008+4165_6008+4166insATATATATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02280.hp1 HG03834.hp2 others(1): Show HG00408.hp1 HG02280.hp1 HG03834.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0032 a0001c0001t0001g0170 a0001c0001t0006g0082 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0170 a0001c0001t0006g0082 a0001c0001t0007g0131	4	182	0.0220	24	c.600 others(43): Show c.6008+4161_6008+4162insATATATATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(17): Show AATAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0137 a0001c0001t0008g0137	1	182	0.0055	24	c.600 others(43): Show c.6008+4157_6008+4158insATATATATATATATATATATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(17): Show AATATATATATATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 NA18939.hp2 others(1): Show HG01069.hp1 HG01074.hp1 NA18939.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0148	4	182	0.0220	24	c.600 others(43): Show c.6008+4157_6008+4158insATATATATATTTATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG03942.hp2 others(2): Show HG02109.hp2 HG02559.hp1 HG03942.hp2 NA18522.hp1 NA19068.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0005 a0006c0006t0001 a0001c0001t0001 a0001c0001t0005 a0006c0006t0001	a0001c0001t0001g0058 a0001c0001t0001g0109 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0005g0012 a0006c0006t0001g0100	5	182	0.0275	24	c.600 others(43): Show c.6008+4134_6008+4157dupATATATATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02615.hp1 HG01928.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0252 a0001c0001t0001g0122 a0001c0001t0001g0252	2	330	0.0061	24	c.34 others(35): Show c.3420_*3421insTGTGTGTGTGTGTGTGTGTGTGTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		2412		chr8	TogoVar
ASIC1_chr12_50052596_50088611	50086479	T T	TTGGTGGT others(17): Show TTGGTGGTGGTAGTGGTGGTGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 NA21309.hp1 HG03688.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0001 a0001c0001t0001g0054	2	324	0.0062	24	c.48 others(35): Show c.4830_*4831insTGGTGGTGGTAGTGGTGGTGGTGG	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding		2869		chr12	TogoVar
ASIC1_chr12_50052596_50088611	50086479	T T	TTGGTGGT others(17): Show TTGGTGGTGGTGGTGGTGGTGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG03209.hp1 HG02486.hp2 HG02559.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071	3	324	0.0093	24	c.48 others(35): Show c.4830_*4831insTGGTGGTGGTGGTGGTGGTGGTGG	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding		2869		chr12	TogoVar
ASIC2_chr17_33008087_33298295	33269613	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG01934.hp1 others(9): Show HG00544.hp2 HG00621.hp1 HG01934.hp1 HG02015.hp1 HG02055.hp2 HG02129.hp2 HG02647.hp1 NA18985.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 a0001c0002 a0001c0004 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0002 a0001c0004t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0018	a0001c0002t0001g0129 a0001c0002t0002g0122 a0001c0002t0002g0135 others(9): Show a0001c0002t0001g0129 a0001c0002t0002g0122 a0001c0002t0002g0135 a0001c0002t0005g0102 a0001c0004t0002g0142 a0001c0004t0002g0173 a0001c0004t0004g0008 a0002c0003t0001g0199 a0002c0003t0001g0208 a0002c0003t0001g0215 a0002c0003t0002g0186 a0002c0003t0018g0185	12	240	0.0500	24	c.708 others(43): Show c.708+21771_708+21794dupAAGGAAGGAAGGAAGGAAGGAAGG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269732	C C	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0087 a0001c0002t0015g0087	1	240	0.0042	24	c.708 others(43): Show c.708+21675_708+21676insAGGAAGGAAGGAAGGAAGGAAGGA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269751	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01943.hp1 HG02129.hp2 others(8): Show HG01070.hp2 HG01943.hp1 HG02129.hp2 HG02723.hp2 HG02965.hp2 HG03130.hp2 HG03471.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0004 a0001c0001t0013 a0001c0002t0003 others(6): Show a0001c0001t0004 a0001c0001t0013 a0001c0002t0003 a0001c0002t0006 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0002c0003t0001 a0002c0003t0002	a0001c0001t0004g0040 a0001c0001t0013g0051 a0001c0002t0003g0006 others(8): Show a0001c0001t0004g0040 a0001c0001t0013g0051 a0001c0002t0003g0006 a0001c0002t0006g0007 a0001c0004t0004g0008 a0001c0004t0005g0144 a0001c0004t0010g0145 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0216 a0002c0003t0002g0186	11	240	0.0458	24	c.708 others(43): Show c.708+21656_708+21657insGGAAGGAAGGAAGGAAGGAAGGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIP_chr20_34236423_34274344	34258674	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(18): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00673.hp2 HG01255.hp1 HG01361.hp1 HG02027.hp1 HG02040.hp2 HG02129.hp1 HG02155.hp1 HG02293.hp2 HG03834.hp1 NA18944.hp2 NA18951.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18983.hp1 NA19009.hp2 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0020 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0245	21	306	0.0686	24	c.-10 others(41): Show c.-10-1674_-10-1673insTATATATATATATATATATATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34269946	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02630.hp2 NA19030.hp1 others(1): Show HG02145.hp2 HG02630.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0050 others(1): Show a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0188	4	306	0.0131	24	c.77 others(33): Show c.779_*780insAAAAAAAAAAAAAAAAAAAAAAAA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding		603		chr20	TogoVar
ASMTL_chrX_1398139_1457909	1428646	C C	CAAATAAA others(17): Show CAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(68): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02293.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03195.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp2 NA19058.hp1 NA19068.hp1 NA19081.hp2 NA19083.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0000 a0001 a0002 others(11): Show a0000 a0001 a0002 a0003 a0006 a0008 a0009 a0011 a0012 a0013 a0014 a0018 a0019 a0022	a0000c0007 a0000c0030 a0001c0001 others(21): Show a0000c0007 a0000c0030 a0001c0001 a0001c0008 a0001c0011 a0002c0003 a0002c0004 a0002c0009 a0002c0012 a0002c0014 a0002c0034 a0003c0002 a0003c0005 a0003c0044 a0006c0016 a0008c0018 a0009c0020 a0011c0023 a0012c0024 a0013c0036 a0014c0025 a0018c0032 a0019c0021 a0022c0046	a0000c0007t0001 a0000c0030t0001 a0001c0001t0001 others(22): Show a0000c0007t0001 a0000c0030t0001 a0001c0001t0001 a0001c0008t0001 a0001c0011t0001 a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 a0002c0012t0001 a0002c0014t0001 a0002c0034t0001 a0003c0002t0001 a0003c0002t0002 a0003c0005t0001 a0003c0044t0001 a0006c0016t0001 a0008c0018t0001 a0009c0020t0001 a0011c0023t0001 a0012c0024t0001 a0013c0036t0001 a0014c0025t0001 a0018c0032t0001 a0019c0021t0001 a0022c0046t0004	a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 others(68): Show a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 a0000c0007t0001g0044 a0000c0007t0001g0061 a0000c0007t0001g0086 a0000c0007t0001g0092 a0000c0007t0001g0126 a0000c0030t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0008t0001g0004 a0001c0008t0001g0088 a0001c0008t0001g0094 a0001c0011t0001g0178 a0002c0003t0001g0009 a0002c0003t0001g0093 a0002c0003t0001g0143 a0002c0003t0001g0153 a0002c0004t0001g0038 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0009t0001g0119 a0002c0009t0001g0128 a0002c0012t0001g0095 a0002c0014t0001g0177 a0002c0034t0001g0136 a0003c0002t0001g0003 a0003c0002t0001g0012 a0003c0002t0001g0028 a0003c0002t0001g0047 a0003c0002t0001g0071 a0003c0002t0001g0080 a0003c0002t0001g0110 a0003c0002t0001g0158 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0173 a0003c0002t0002g0183 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0090 a0003c0005t0001g0097 a0003c0005t0001g0132 a0003c0005t0001g0139 a0003c0005t0001g0146 a0003c0005t0001g0179 a0003c0044t0001g0011 a0006c0016t0001g0166 a0006c0016t0001g0169 a0008c0018t0001g0181 a0008c0018t0001g0182 a0009c0020t0001g0063 a0011c0023t0001g0155 a0012c0024t0001g0054 a0013c0036t0001g0147 a0014c0025t0001g0152 a0018c0032t0001g0105 a0019c0021t0001g0101 a0022c0046t0004g0184	71	185	0.3838	24	c.510 others(39): Show c.510-526_510-525insATTTATTTATTTATTTATTTATTT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	6/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1613176	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02004.hp1 others(21): Show HG00639.hp1 HG01884.hp1 HG02004.hp1 HG02080.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG03516.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp2 NA18939.hp1 NA18950.hp1 NA18950.hp2 NA18956.hp2 NA18968.hp2 NA18999.hp2 NA19002.hp1 NA19062.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0011 a0012 a0013	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0004c0004 a0008c0013 a0011c0008 a0012c0007 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0004c0004t0001 a0008c0013t0001 a0011c0008t0001 a0012c0007t0001 a0013c0017t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0077 others(21): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0002g0135 a0001c0001t0002g0168 a0001c0003t0001g0059 a0001c0003t0001g0219 a0002c0002t0001g0031 a0002c0002t0001g0052 a0002c0002t0001g0066 a0002c0002t0001g0220 a0002c0002t0002g0159 a0002c0002t0002g0207 a0002c0006t0001g0104 a0004c0004t0001g0169 a0008c0013t0001g0101 a0011c0008t0001g0034 a0012c0007t0001g0036 a0013c0017t0001g0111	24	223	0.1076	24	c.-20 others(35): Show c.-2024_-2023insTTCTTTCTTTCTTTCTTTCTTTCT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1882		chrX	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGGGGGGG others(17): Show GGGGGGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	258	0.0039	24	c.176 others(43): Show c.1764+8371_1764+8372insACACACACACACACACACCCCCCC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01934.hp1 HG02293.hp2 others(4): Show HG01192.hp1 HG01934.hp1 HG02293.hp2 HG02683.hp2 NA18959.hp1 NA19083.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0052 a0001c0001t0001g0103 a0001c0001t0001g0107 others(4): Show a0001c0001t0001g0052 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0175 a0001c0001t0004g0245 a0001c0001t0006g0041	7	258	0.0271	24	c.176 others(43): Show c.1764+8348_1764+8371dupACACACACACACACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61550442	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp1 HG03225.hp2 others(1): Show HG02630.hp2 HG03195.hp1 HG03225.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0061 others(1): Show a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0061 a0001c0001t0006g0133	4	258	0.0155	24	c.162 others(43): Show c.1627-2258_1627-2235dupGTGTGTGTGTGTGTGTGTGTGTGT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	20/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61628323	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0194 a0001c0002t0002g0194	1	258	0.0039	24	c.934 others(41): Show c.934+5336_934+5359dupAAAAAAAAAAAAAAAAAAAAAAAA	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	13/24			chr8	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG02258.hp2 others(4): Show HG00741.hp1 HG01175.hp2 HG02258.hp2 HG02647.hp2 NA18947.hp2 NA18978.hp2 NA20300.hp2	a0001 a0009 a0018 a0001 a0009 a0018	a0001c0001 a0001c0003 a0009c0015 others(1): Show a0001c0001 a0001c0003 a0009c0015 a0018c0020	a0001c0001t0001 a0001c0003t0001 a0009c0015t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0009c0015t0001 a0018c0020t0001	a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0111 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0111 a0001c0003t0001g0183 a0001c0003t0001g0184 a0009c0015t0001g0123 a0018c0020t0001g0104	7	296	0.0237	24	c.-18 others(35): Show c.-1897_-1896insTTTTTTTTTTTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(17): Show GGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	464	0.0022	24	c.42 others(35): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASS1_chr9_130439961_130506274	130448422	G G	GCGCACAC others(17): Show GCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp1 HG02258.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0164 a0001c0001t0001g0018 a0001c0001t0001g0164	2	374	0.0054	24	c.-6+ others(39): Show c.-6+3428_-6+3429insGCACACACACACACACACACACAC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN1_chr1_176856067_177169712	176922556	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18906.hp2 NA19240.hp1 HG02109.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0072 a0001c0005t0004g0076 a0001c0005t0004g0085 a0001c0005t0004g0072 a0001c0005t0004g0076 a0001c0005t0004g0085	3	112	0.0268	24	c.267 others(45): Show c.2671+11572_2671+11595dupTTTTTTTTTTTTTTTTTTTTTTTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	16/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149135	C C	CATATATA others(17): Show CATATATATAGTATATATATAGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02055.hp1 HG02109.hp2 others(6): Show HG01346.hp1 HG02055.hp1 HG02109.hp2 HG02647.hp1 HG02809.hp1 HG02922.hp1 HG03041.hp2 HG03453.hp1 NA19062.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0009 a0003c0010 a0001c0002 a0001c0009 a0003c0010	a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 others(4): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0020 a0001c0009t0004 a0003c0010t0006	a0001c0002t0001g0008 a0001c0002t0007g0020 a0001c0002t0011g0009 others(6): Show a0001c0002t0001g0008 a0001c0002t0007g0020 a0001c0002t0011g0009 a0001c0002t0014g0004 a0001c0002t0020g0007 a0001c0009t0004g0005 a0001c0009t0004g0006 a0001c0009t0004g0024 a0003c0010t0006g0031	9	112	0.0804	24	c.283 others(43): Show c.283+15258_283+15259insACACTATATATATACTATATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149461	T T	TATATATA others(17): Show TATATATATAGTATATATATAGTAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp2 HG02717.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0007 a0002c0008t0001 a0001c0001t0007 a0002c0008t0001	a0001c0001t0007g0099 a0002c0008t0001g0098 a0001c0001t0007g0099 a0002c0008t0001g0098	2	112	0.0179	24	c.283 others(43): Show c.283+14909_283+14932dupTTACTATATATATACTATATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116490272	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19065.hp1 HG01934.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0022 a0001c0002t0004g0091 a0001c0002t0003g0022 a0001c0002t0004g0091	2	102	0.0196	24	c.335 others(43): Show c.3356-2796_3356-2773dupTTTTTTTTTTTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116632252	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	102	0.0098	24	c.307 others(45): Show c.3073-11833_3073-11810dupTTTCTTTCTTTCTTTCTTTCTTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116718966	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0071 a0001c0003t0007g0071	1	102	0.0098	24	c.280 others(43): Show c.2806+6804_2806+6805insTATATATATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01261.hp1 others(7): Show HG00099.hp1 HG00639.hp2 HG01261.hp1 HG01496.hp2 HG01934.hp2 HG02559.hp2 HG02698.hp1 HG02922.hp1 HG03239.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0005t0005	a0001c0001t0002g0070 a0001c0001t0003g0063 a0001c0002t0001g0042 others(7): Show a0001c0001t0002g0070 a0001c0001t0003g0063 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0003g0041 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0004g0029 a0001c0005t0005g0076 a0001c0005t0005g0084	10	102	0.0980	24	c.280 others(43): Show c.2806+6798_2806+6799insTATATATATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG03540.hp2 HG02109.hp1 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0003t0012 a0001c0001t0005 a0001c0003t0001 a0001c0003t0012	a0001c0001t0005g0096 a0001c0003t0001g0038 a0001c0003t0012g0001 a0001c0001t0005g0096 a0001c0003t0001g0038 a0001c0003t0012g0001	3	102	0.0294	24	c.280 others(43): Show c.2806+6798_2806+6799insTATATATATATATATACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116816896	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01884.hp1 others(12): Show HG01081.hp1 HG01099.hp2 HG01884.hp1 HG01891.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG03471.hp2 NA19012.hp1 NA19065.hp2 NA19066.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0013 a0001c0014 a0001c0022 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0007 a0001c0009t0008 a0001c0013t0009 a0001c0014t0017 a0001c0022t0001 a0002c0004t0001	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0003g0090 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0003g0090 a0001c0001t0008g0008 a0001c0001t0009g0086 a0001c0001t0011g0002 a0001c0002t0001g0033 a0001c0002t0002g0046 a0001c0002t0004g0043 a0001c0003t0007g0071 a0001c0009t0008g0088 a0001c0013t0009g0072 a0001c0014t0017g0050 a0001c0022t0001g0020 a0002c0004t0001g0004	15	102	0.1471	24	c.220 others(43): Show c.2207+3697_2207+3720dupATTTATTTATTTATTTATTTATTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116933979	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02004.hp2 HG02886.hp1 others(1): Show HG01934.hp1 HG02004.hp2 HG02886.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0003 a0001c0002t0004 a0001c0003t0004 others(1): Show a0001c0001t0003 a0001c0002t0004 a0001c0003t0004 a0001c0010t0004	a0001c0001t0003g0013 a0001c0002t0004g0091 a0001c0003t0004g0085 others(1): Show a0001c0001t0003g0013 a0001c0002t0004g0091 a0001c0003t0004g0085 a0001c0010t0004g0009	4	102	0.0392	24	c.188 others(45): Show c.1889+41228_1889+41229insAAAAAAAAAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116976958	T T	TGTTCATT others(17): Show TGTTCATTCACTCATTTATTCCTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0080 a0001c0025t0001g0080	1	102	0.0098	24	c.159 others(41): Show c.1592-197_1592-174dupGAAGGAATAAATGAGTGAATGAAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116998549	T T	TCATCCAT others(17): Show TCATCCATCCATCCATCCATCCATC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02451.hp1 HG02922.hp2 others(2): Show HG01261.hp1 HG02451.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0005t0005	a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0002g0018 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0002g0018 a0001c0001t0006g0014 a0001c0005t0005g0076	5	102	0.0490	24	c.159 others(43): Show c.1591+9542_1591+9543insGATGGATGGATGGATGGATGGATG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp2 HG03130.hp1 HG01891.hp2 HG02896.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0021 a0001c0002 a0001c0006 a0001c0021	a0001c0002t0002 a0001c0006t0002 a0001c0021t0006 a0001c0002t0002 a0001c0006t0002 a0001c0021t0006	a0001c0002t0002g0046 a0001c0006t0002g0012 a0001c0021t0006g0056 a0001c0002t0002g0046 a0001c0006t0002g0012 a0001c0021t0006g0056	3	102	0.0294	24	c.159 others(43): Show c.1591+4538_1591+4561dupACACACACACACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117108438	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01934.hp2 HG01099.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0090 a0001c0002t0004g0029 a0001c0001t0003g0090 a0001c0002t0004g0029	2	102	0.0196	24	c.116 others(45): Show c.1169-12311_1169-12288dupGTGTGTGTGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120018	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0020 a0001c0022t0001g0020	1	102	0.0098	24	c.116 others(45): Show c.1168+21307_1168+21308insTATATATATATATATATACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	102	0.0098	24	c.631 others(43): Show c.631-10817_631-10794dupTATATATATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATGTAT others(17): Show GTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp1 HG03041.hp1 others(5): Show HG01496.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03239.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0004 a0005c0015	a0001c0001t0006 a0001c0002t0003 a0001c0002t0004 others(4): Show a0001c0001t0006 a0001c0002t0003 a0001c0002t0004 a0001c0005t0005 a0001c0008t0005 a0002c0004t0002 a0005c0015t0003	a0001c0001t0006g0079 a0001c0002t0003g0066 a0001c0002t0003g0068 others(5): Show a0001c0001t0006g0079 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0004g0043 a0001c0005t0005g0084 a0001c0008t0005g0081 a0002c0004t0002g0005 a0005c0015t0003g0019	8	102	0.0784	24	c.631 others(43): Show c.631-10794_631-10793insTATATATATATATATATATACATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	102	0.0098	24	c.631 others(43): Show c.631-10794_631-10793insTATATATATATATATATATATACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32377972	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 NA18997.hp1 HG02258.hp2 HG02622.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0255 a0001c0002t0002g0275 a0001c0002t0005g0266 a0001c0002t0002g0255 a0001c0002t0002g0275 a0001c0002t0005g0266	3	282	0.0106	24	c.252 others(41): Show c.252+8857_252+8880dupGTGTGTGTGTGTGTGTGTGTGTGT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL2_chr2_25728753_25883487	25786243	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	222	0.0045	24	c.403 others(43): Show c.403+13141_403+13142insAAAAAAAAAAAAAAAAAAAAAAAA	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25807986	T T	TAAACACA others(17): Show TAAACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	222	0.0045	24	c.144 others(41): Show c.144-1650_144-1649insGTGTGTGTGTGTGTGTGTGTGTTT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	3/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25807986	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03239.hp2 HG02922.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0001 a0001c0001t0035	a0001c0001t0001g0101 a0001c0001t0035g0095 a0001c0001t0001g0101 a0001c0001t0035g0095	2	222	0.0090	24	c.144 others(41): Show c.144-1673_144-1650dupGTGTGTGTGTGTGTGTGTGTGTGT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	3/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25849064	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01169.hp1 HG01433.hp2 others(4): Show HG01081.hp1 HG01169.hp1 HG01433.hp2 HG01884.hp1 HG02486.hp2 HG02615.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0020 a0001c0001t0023 a0002c0002t0006	a0001c0001t0001g0207 a0001c0001t0011g0064 a0001c0001t0011g0065 others(4): Show a0001c0001t0001g0207 a0001c0001t0011g0064 a0001c0001t0011g0065 a0001c0001t0020g0049 a0001c0001t0023g0157 a0002c0002t0006g0055 a0002c0002t0006g0061	7	222	0.0315	24	c.58- others(39): Show c.58-3502_58-3501insATATATATATATATATATATATAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ASXL3_chr18_33573219_33756195	33578458	C C	CCCGCCGC others(17): Show CCCGCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0079 a0003c0003t0079	a0003c0003t0079g0007 a0003c0003t0079g0007	1	220	0.0046	24	c.-15 others(33): Show c.-156_-133dupGCCGCCGCCGCCGCCGCCGCCGCC	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/12	132	INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33590111	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0024 a0001c0001t0008g0024	1	220	0.0046	24	c.54+ others(41): Show c.54+11445_54+11446insTTTTTTTTTTTTTTTTTTTTTTTT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar

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