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
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01192.hp2 HG01358.hp2 others(8): Show HG01168.hp1 HG01192.hp2 HG01358.hp2 HG02004.hp1 HG02074.hp2 HG02300.hp1 HG02965.hp1 NA18522.hp1 NA18994.hp1 NA19003.hp1 NA19010.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0003c0005 a0008c0010 a0001c0002 a0003c0005 a0008c0010	a0001c0002t0002 a0001c0002t0003 a0003c0005t0002 others(1): Show a0001c0002t0002 a0001c0002t0003 a0003c0005t0002 a0008c0010t0007	a0001c0002t0002g0083 a0001c0002t0003g0082 a0001c0002t0003g0113 others(8): Show a0001c0002t0002g0083 a0001c0002t0003g0082 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0118 a0001c0002t0003g0126 a0001c0002t0003g0153 a0003c0005t0002g0152 a0003c0005t0002g0154 a0008c0010t0007g0004	11	314	0.0350	20	c.530 others(39): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GGAAAAAA others(13): Show GGAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0105 a0001c0002t0003g0105	1	314	0.0032	20	c.530 others(39): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTC	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608127	C C	CATATATA others(13): Show CATATATATGTATATATATTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0294 a0014c0024t0001g0294	1	314	0.0032	20	c.478 others(39): Show c.4786-1040_4786-1039insAAATATATATACATATATAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(13): Show TTATATATATATATTTATATA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0075 a0001c0002t0003g0075	1	314	0.0032	20	c.478 others(39): Show c.4786-1644_4786-1643insTATATAAATATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(13): Show TTATATATATATATTTTTATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18940.hp1 NA18991.hp1 others(4): Show HG02004.hp1 NA18940.hp1 NA18991.hp1 NA19060.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0076 a0001c0002t0003g0115 a0001c0002t0003g0145 others(4): Show a0001c0002t0003g0076 a0001c0002t0003g0115 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0006g0181 a0001c0002t0006g0183 a0001c0002t0006g0186	7	314	0.0223	20	c.478 others(39): Show c.4786-1644_4786-1643insTATAAAAATATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100661323	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19068.hp1 NA18945.hp2 NA19068.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0162 a0001c0006t0005g0167 a0001c0006t0005g0162 a0001c0006t0005g0167	2	314	0.0064	20	c.270 others(37): Show c.2703+463_2703+482dupTGTGTGTGTGTGTGTGTGTG	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	16/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100681725	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp2 HG01978.hp2 HG00735.hp1 HG01361.hp2 HG01978.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0171 a0003c0004t0004g0176 a0003c0004t0004g0187 a0003c0004t0004g0171 a0003c0004t0004g0176 a0003c0004t0004g0187	3	314	0.0096	20	c.215 others(39): Show c.2152-1993_2152-1974dupTTTTTTTTTTTTTTTTTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687030	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0037 a0002c0003t0002g0037	1	314	0.0032	20	c.215 others(39): Show c.2152-7279_2152-7278insTGTGTGTGTGTGTGTGTGTG	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100730298	G G	GAAAACAA others(13): Show GAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01358.hp2 HG01361.hp1 others(12): Show HG01074.hp2 HG01358.hp2 HG01361.hp1 HG02280.hp1 HG02723.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG04199.hp1 NA19003.hp2 NA19010.hp2 NA19240.hp2 NA20129.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0011	a0001c0001 a0001c0002 a0001c0011 others(3): Show a0001c0001 a0001c0002 a0001c0011 a0004c0013 a0008c0010 a0011c0028	a0001c0001t0001 a0001c0002t0011 a0001c0011t0001 others(4): Show a0001c0001t0001 a0001c0002t0011 a0001c0011t0001 a0001c0011t0002 a0004c0013t0003 a0008c0010t0007 a0011c0028t0002	a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0231 others(12): Show a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0262 a0001c0001t0001g0275 a0001c0002t0011g0003 a0001c0011t0001g0297 a0001c0011t0002g0072 a0001c0011t0002g0073 a0004c0013t0003g0040 a0004c0013t0003g0065 a0008c0010t0007g0002 a0008c0010t0007g0004 a0011c0028t0002g0074	15	314	0.0478	20	c.173 others(39): Show c.1738-4615_1738-4596dupGTTTTGTTTTGTTTTGTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100865953	C C	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0171 a0003c0004t0004g0171	1	314	0.0032	20	c.91- others(35): Show c.91-1759_91-1740dupAAATAAATAAATAAATAAAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	2/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962423	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0001 a0002c0002t0006g0001	1	354	0.0028	20	c.31 others(31): Show c.3109_*3110insCTTTCTTTCTTTCTTTCTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1911		chr12	TogoVar
ASDURF_chr2_189656459_189671401	189665610	A A	ATATATAC others(13): Show ATATATACATATATATATATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	340	0.0029	20	c.220 others(35): Show c.220+165_220+166insCATATATATATATGTATATA	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASH1L_chr1_155330268_155567803	155411578	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	182	0.0055	20	c.600 others(39): Show c.6008+4165_6008+4166insATATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02970.hp2 HG00140.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0105 a0001c0001t0001g0123	2	182	0.0110	20	c.600 others(39): Show c.6008+4161_6008+4162insATATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(13): Show AATAAATAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0096 a0001c0001t0020g0096	1	182	0.0055	20	c.600 others(39): Show c.6008+4157_6008+4158insATATATATATATTTATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA20905.hp1 NA19011.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0008 a0001c0017t0001 a0001c0001t0008 a0001c0017t0001	a0001c0001t0008g0040 a0001c0017t0001g0059 a0001c0001t0008g0040 a0001c0017t0001g0059	2	182	0.0110	20	c.600 others(39): Show c.6008+4138_6008+4157dupATATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01952.hp1 HG01952.hp2 others(2): Show HG00621.hp2 HG01952.hp1 HG01952.hp2 NA19060.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0125 a0001c0001t0001g0219 a0001c0001t0001g0242 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0219 a0001c0001t0001g0242 a0001c0002t0001g0002 a0001c0002t0001g0266	5	330	0.0152	20	c.34 others(31): Show c.3420_*3421insTGTGTGTGTGTGTGTGTGTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		2412		chr8	TogoVar
ASIC2_chr17_33008087_33298295	33068528	T T	TCAAAACA others(13): Show TCAAAACAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0198 a0002c0003t0001g0198	1	240	0.0042	20	c.987 others(39): Show c.987+20315_987+20334dupTTTTGTTTTGTTTTGTTTTG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33232431	T T	TATGGTAT others(13): Show TATGGTATGGTATGGTATGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19240.hp2 HG02965.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0015 a0001c0001t0013g0016 a0001c0001t0003g0015 a0001c0001t0013g0016	2	240	0.0083	20	c.708 others(39): Show c.708+58976_708+58977insTCCATACCATACCATACCAT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33232446	A A	AATGGTAT others(13): Show AATGGTATGGTATGGTATGGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02015.hp1 HG03834.hp1 others(1): Show HG01074.hp2 HG02015.hp1 HG03834.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0007 a0001c0002t0001 a0002c0003t0001 a0001c0001t0007 a0001c0002t0001 a0002c0003t0001	a0001c0001t0007g0235 a0001c0002t0001g0121 a0002c0003t0001g0197 others(1): Show a0001c0001t0007g0235 a0001c0002t0001g0121 a0002c0003t0001g0197 a0002c0003t0001g0215	4	240	0.0167	20	c.708 others(39): Show c.708+58942_708+58961dupACCATACCATACCATACCAT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269613	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG02451.hp2 others(4): Show HG00597.hp1 HG00597.hp2 HG02451.hp2 HG03579.hp2 NA18747.hp2 NA18944.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0006 others(1): Show a0001c0002 a0001c0004 a0001c0006 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0001c0004t0008 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0008 a0001c0006t0012 a0002c0003t0002	a0001c0002t0001g0111 a0001c0002t0002g0113 a0001c0002t0002g0136 others(4): Show a0001c0002t0001g0111 a0001c0002t0002g0113 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0004t0008g0143 a0001c0006t0012g0091 a0002c0003t0002g0201	7	240	0.0292	20	c.708 others(39): Show c.708+21775_708+21794dupAAGGAAGGAAGGAAGGAAGG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269672	T T	TTCCTTCC others(13): Show TTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0234 a0001c0001t0007g0234	1	240	0.0042	20	c.708 others(39): Show c.708+21735_708+21736insGGGAAGGAAGGAAGGAAGGA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269732	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0088 a0001c0002t0025g0088	1	240	0.0042	20	c.708 others(39): Show c.708+21675_708+21676insAGGAAGGAAGGAAGGAAGGA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269751	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01258.hp1 others(17): Show HG00280.hp1 HG00735.hp2 HG01258.hp1 HG01258.hp2 HG02027.hp2 HG02132.hp2 HG02257.hp1 HG02602.hp1 HG03492.hp1 HG03579.hp2 HG03831.hp1 HG04228.hp2 NA18945.hp1 NA18964.hp2 NA19004.hp1 NA19007.hp1 NA19030.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0002t0002 a0001c0002t0003 a0001c0004t0002 a0001c0006t0012 a0001c0007t0003 a0002c0003t0001 a0002c0003t0005 a0002c0003t0030	a0001c0001t0003g0024 a0001c0001t0003g0053 a0001c0001t0003g0066 others(17): Show a0001c0001t0003g0024 a0001c0001t0003g0053 a0001c0001t0003g0066 a0001c0001t0004g0067 a0001c0001t0004g0080 a0001c0001t0006g0050 a0001c0001t0007g0227 a0001c0001t0024g0085 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0003g0005 a0001c0004t0002g0175 a0001c0006t0012g0091 a0001c0007t0003g0048 a0002c0003t0001g0176 a0002c0003t0001g0199 a0002c0003t0001g0217 a0002c0003t0005g0205 a0002c0003t0030g0220	20	240	0.0833	20	c.708 others(39): Show c.708+21637_708+21656dupGGAAGGAAGGAAGGAAGGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269759	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	240	0.0042	20	c.708 others(39): Show c.708+21648_708+21649insAGAAGGAAGGAAGGAAGGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIP_chr20_34236423_34274344	34246250	T T	TCTCTTCT others(13): Show TCTCTTCTGTTTTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02723.hp1 others(8): Show HG02559.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG03139.hp2 HG03209.hp2 NA18906.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0038 a0001c0001t0002g0039 others(6): Show a0001c0001t0002g0008 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060	11	306	0.0360	20	c.-11 others(37): Show c.-11+4769_-11+4788dupGTTTTTTCTTCTCCTCTTCT	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258674	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03492.hp2 HG03669.hp2 others(3): Show HG01433.hp1 HG03492.hp2 HG03669.hp2 NA18963.hp2 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0117 others(3): Show a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0186	6	306	0.0196	20	c.-10 others(37): Show c.-10-1674_-10-1673insTATATATATATATATATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258685	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp1 NA18906.hp2 HG02559.hp2 HG02895.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042	3	306	0.0098	20	c.-10 others(37): Show c.-10-1674_-10-1673insTATATATATATATGTATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1417598	T T	TGCACACA others(13): Show TGCACACAGATGCAGACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0028 a0003c0002t0001g0028	1	185	0.0054	20	c.152 others(37): Show c.1522+355_1522+374dupGTGTGTCTGCATCTGTGTGC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	11/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1424365	C C	CATCCACC others(13): Show CATCCACCCTCCCATCCATCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(124): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0017 a0019 a0020 a0021 a0022	a0001c0001 a0001c0008 a0001c0013 others(25): Show a0001c0001 a0001c0008 a0001c0013 a0001c0035 a0002c0004 a0002c0012 a0002c0014 a0002c0015 a0002c0034 a0003c0002 a0003c0005 a0003c0029 a0003c0044 a0005c0027 a0005c0037 a0006c0016 a0008c0018 a0009c0020 a0011c0023 a0012c0024 a0013c0036 a0014c0025 a0015c0026 a0017c0022 a0019c0021 a0020c0045 a0021c0019 a0022c0046	a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 others(27): Show a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 a0001c0035t0001 a0002c0004t0001 a0002c0012t0001 a0002c0014t0001 a0002c0015t0001 a0002c0034t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0005t0001 a0003c0029t0001 a0003c0044t0001 a0005c0027t0001 a0005c0037t0001 a0006c0016t0001 a0008c0018t0001 a0009c0020t0001 a0011c0023t0001 a0012c0024t0001 a0013c0036t0001 a0014c0025t0001 a0015c0026t0001 a0017c0022t0001 a0019c0021t0001 a0020c0045t0001 a0021c0019t0001 a0022c0046t0004	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 others(123): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0008t0001g0004 a0001c0008t0001g0032 a0001c0008t0001g0045 a0001c0008t0001g0088 a0001c0008t0001g0094 a0001c0008t0001g0127 a0001c0008t0001g0145 a0001c0008t0001g0154 a0001c0013t0001g0068 a0001c0013t0001g0164 a0001c0035t0001g0122 a0002c0004t0001g0030 a0002c0004t0001g0038 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0089 a0002c0004t0001g0096 a0002c0004t0001g0124 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0004t0001g0149 a0002c0012t0001g0074 a0002c0012t0001g0095 a0002c0012t0001g0103 a0002c0014t0001g0015 a0002c0014t0001g0177 a0002c0015t0001g0001 a0002c0034t0001g0136 a0003c0002t0001g0003 a0003c0002t0001g0012 a0003c0002t0001g0027 a0003c0002t0001g0028 a0003c0002t0001g0047 a0003c0002t0001g0064 a0003c0002t0001g0071 a0003c0002t0001g0079 a0003c0002t0001g0080 a0003c0002t0001g0108 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0130 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0144 a0003c0002t0001g0150 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0159 a0003c0002t0001g0163 a0003c0002t0001g0165 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0173 a0003c0002t0002g0183 a0003c0002t0003g0100 a0003c0005t0001g0010 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0005t0001g0090 a0003c0005t0001g0097 a0003c0005t0001g0132 a0003c0005t0001g0139 a0003c0005t0001g0146 a0003c0005t0001g0179 a0003c0029t0001g0151 a0003c0044t0001g0011 a0005c0027t0001g0175 a0005c0037t0001g0162 a0006c0016t0001g0166 a0006c0016t0001g0169 a0008c0018t0001g0181 a0008c0018t0001g0182 a0009c0020t0001g0063 a0011c0023t0001g0155 a0012c0024t0001g0054 a0013c0036t0001g0147 a0014c0025t0001g0152 a0015c0026t0001g0114 a0017c0022t0001g0017 a0019c0021t0001g0101 a0020c0045t0001g0046 a0021c0019t0001g0067 a0022c0046t0004g0184	127	185	0.6865	20	c.106 others(39): Show c.1060+1140_1060+1159dupAGATGGATGGGAGGGTGGAT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	8/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1428646	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(52): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02896.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18962.hp1 NA18967.hp1 NA18980.hp1 NA18980.hp2 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA19057.hp1 NA19064.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(5): Show a0000 a0001 a0002 a0003 a0004 a0015 a0020 a0021	a0000c0043 a0001c0001 a0001c0008 others(13): Show a0000c0043 a0001c0001 a0001c0008 a0001c0011 a0001c0035 a0001c0042 a0002c0004 a0002c0012 a0002c0014 a0002c0033 a0003c0002 a0003c0005 a0004c0006 a0015c0026 a0020c0045 a0021c0019	a0000c0043t0001 a0001c0001t0001 a0001c0008t0001 others(14): Show a0000c0043t0001 a0001c0001t0001 a0001c0008t0001 a0001c0011t0001 a0001c0035t0001 a0001c0042t0001 a0002c0004t0001 a0002c0012t0001 a0002c0014t0001 a0002c0033t0001 a0003c0002t0001 a0003c0002t0003 a0003c0005t0001 a0004c0006t0001 a0015c0026t0001 a0020c0045t0001 a0021c0019t0001	a0000c0043t0001g0069 a0001c0001t0001g0002 a0001c0001t0001g0021 others(52): Show a0000c0043t0001g0069 a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0008t0001g0032 a0001c0008t0001g0045 a0001c0008t0001g0127 a0001c0008t0001g0145 a0001c0008t0001g0154 a0001c0011t0001g0014 a0001c0011t0001g0174 a0001c0035t0001g0122 a0001c0042t0001g0005 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0089 a0002c0012t0001g0074 a0002c0012t0001g0103 a0002c0014t0001g0015 a0002c0033t0001g0171 a0003c0002t0001g0079 a0003c0002t0001g0130 a0003c0002t0001g0141 a0003c0002t0001g0150 a0003c0002t0001g0165 a0003c0002t0003g0100 a0003c0005t0001g0010 a0004c0006t0001g0084 a0015c0026t0001g0114 a0020c0045t0001g0046 a0021c0019t0001g0067	55	185	0.2973	20	c.510 others(35): Show c.510-545_510-526dupATTTATTTATTTATTTATTT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	6/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1613176	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00733.hp2 others(17): Show HG00438.hp2 HG00544.hp2 HG00733.hp2 HG01071.hp2 HG01168.hp1 HG01168.hp2 HG01981.hp2 HG02004.hp2 HG02273.hp2 HG02293.hp2 HG02683.hp1 HG02818.hp1 HG03041.hp2 HG03927.hp1 HG06807.hp1 NA18947.hp1 NA18975.hp1 NA19002.hp2 NA19003.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001	a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0037 others(17): Show a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0121 a0001c0001t0002g0132 a0001c0001t0002g0143 a0001c0003t0001g0030 a0001c0003t0001g0038 a0001c0003t0002g0149 a0002c0002t0001g0026 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0087 a0002c0002t0001g0119 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0002g0096 a0002c0002t0002g0146 a0002c0006t0001g0187	20	223	0.0897	20	c.-20 others(31): Show c.-2024_-2023insTTCTTTCTTTCTTTCTTTCT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1882		chrX	TogoVar
ASMT_chrX_1610059_1648081	1625542	A A	AAGGGAGG others(13): Show AAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19064.hp2 NA18977.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0097 a0001c0003t0002g0155 a0001c0001t0001g0097 a0001c0003t0002g0155	2	223	0.0090	20	c.374 others(37): Show c.374+1154_374+1173dupGGGAGGGAGGGAGGGAGGGA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665610	A A	ATATATAC others(13): Show ATATATACATATATATATATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0124 a0003c0004t0001g0124	1	340	0.0029	20	c.-93 others(35): Show c.-93+165_-93+166insCATATATATATATGTATATA	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASNS_chr7_97846677_97877408	97868519	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01952.hp2 HG02148.hp2 others(1): Show HG01496.hp1 HG01952.hp2 HG02148.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	4	436	0.0092	20	c.249 others(35): Show c.249+369_249+388dupCACACACACACACACACACA	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/12			chr7	TogoVar
ASPG_chr14_104080700_104120582	104093660	G G	GTGGGTGG others(13): Show GTGGGTGGGGCTGGGGAATGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02818.hp1 NA18971.hp2 HG01168.hp1 HG02818.hp1 NA18971.hp2	a0002 a0011 a0012 a0002 a0011 a0012	a0002c0003 a0011c0011 a0012c0012 a0002c0003 a0011c0011 a0012c0012	a0002c0003t0007 a0011c0011t0023 a0012c0012t0023 a0002c0003t0007 a0011c0011t0023 a0012c0012t0023	a0002c0003t0007g0236 a0011c0011t0023g0154 a0012c0012t0023g0237 a0002c0003t0007g0236 a0011c0011t0023g0154 a0012c0012t0023g0237	3	368	0.0082	20	c.303 others(33): Show c.303+70_303+71insGGGAATGCTGGGTGGGGCTG	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPH_chr8_61495556_61719592	61539697	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	258	0.0039	20	c.176 others(39): Show c.1764+8373_1764+8374insACACACACACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGGGTGTG others(13): Show GGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03490.hp1 HG04115.hp2 HG02970.hp1 HG03490.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0004g0219 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0004g0219	3	258	0.0116	20	c.176 others(39): Show c.1764+8371_1764+8372insACACACACACACACACACCC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00621.hp2 others(8): Show HG00423.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG02132.hp2 NA18959.hp2 NA18972.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0016 a0001c0005t0001 a0001c0001t0001 a0001c0001t0016 a0001c0005t0001	a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0084 others(8): Show a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0016g0024 a0001c0005t0001g0118	11	258	0.0426	20	c.176 others(39): Show c.1764+8352_1764+8371dupACACACACACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61550442	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01099.hp2 others(7): Show HG00423.hp2 HG00558.hp2 HG01099.hp2 HG01496.hp1 NA18940.hp1 NA18945.hp1 NA18965.hp2 NA18999.hp1 NA19012.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0097 a0001c0001t0006g0109 a0001c0001t0006g0119 others(7): Show a0001c0001t0006g0097 a0001c0001t0006g0109 a0001c0001t0006g0119 a0001c0001t0006g0127 a0001c0001t0008g0207 a0001c0001t0008g0214 a0001c0001t0008g0234 a0001c0001t0008g0235 a0001c0001t0008g0237 a0001c0001t0008g0242	10	258	0.0388	20	c.162 others(39): Show c.1627-2254_1627-2235dupGTGTGTGTGTGTGTGTGTGT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	20/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61561136	G G	GAGGGAGG others(13): Show GAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp2 HG03579.hp2 HG02055.hp2 HG02976.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075	3	258	0.0116	20	c.143 others(39): Show c.1437+1607_1437+1608insTCCTTCCTTCCTTCCTCCCT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61562389	C C	CTCTGTGT others(13): Show CTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	258	0.0039	20	c.143 others(37): Show c.1437+354_1437+355insCACACACACACACACACAGA	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGAG others(13): Show AGAGAGAGAGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA18522.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0014 a0001c0001t0010g0013 a0001c0001t0010g0014	2	258	0.0078	20	c.-49 others(31): Show c.-4924_-4923insACACACACACACTCTCTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGTG others(13): Show AGAGAGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG04184.hp1 NA19002.hp1 others(1): Show HG01346.hp1 HG04184.hp1 NA19002.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0008g0244	4	258	0.0155	20	c.-49 others(31): Show c.-4924_-4923insACACACACACACACACTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPM_chr1_197079127_197151669	197145845	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0042 a0003c0005t0003g0042	1	296	0.0034	20	c.297 others(35): Show c.297+276_297+295dupATATATATATATATATATAT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	1/27			chr1	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01255.hp2 others(9): Show HG00735.hp1 HG01106.hp1 HG01255.hp2 HG01358.hp2 HG02818.hp2 HG02886.hp1 HG03453.hp2 HG03831.hp2 NA18945.hp1 NA18975.hp2 NA19012.hp2 NA19060.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0001c0022 a0003c0005 a0006c0013	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0022t0001 a0003c0005t0003 a0006c0013t0004	a0001c0001t0001g0001 a0001c0001t0001g0124 a0001c0001t0001g0128 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0003t0001g0002 a0001c0003t0001g0207 a0001c0008t0001g0096 a0001c0022t0001g0174 a0003c0005t0003g0015 a0006c0013t0004g0045	12	296	0.0405	20	c.-18 others(31): Show c.-1897_-1896insTTTTTTTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASRGL1_chr11_62332448_62398412	62357221	G G	GTTGTTTT others(13): Show GTTGTTTTGTTTTGTTTTGTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	370	0.0027	20	c.491 others(33): Show c.491+79_491+80insGTTTTGTTTTGTTTTGTTTT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62357224	C C	CTTTTGTT others(13): Show CTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02257.hp2 others(4): Show HG01891.hp2 HG02055.hp2 HG02257.hp2 HG02647.hp1 HG03516.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0003 a0001c0001t0002g0238 a0001c0001t0002g0260 others(4): Show a0001c0001t0002g0003 a0001c0001t0002g0238 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0006g0006 a0001c0001t0006g0196 a0001c0001t0006g0247	7	370	0.0189	20	c.491 others(35): Show c.491+104_491+123dupTGTTTTGTTTTGTTTTGTTT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362813	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG03688.hp2 others(1): Show HG00323.hp1 HG00738.hp2 HG03688.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0148 others(1): Show a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0148 a0001c0001t0003g0162	4	370	0.0108	20	c.491 others(37): Show c.491+5681_491+5700dupCACACACACACACACACACA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASS1_chr9_130439961_130506274	130448422	G G	GCGCACAC others(13): Show GCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0166 a0008c0011t0001g0166	1	374	0.0027	20	c.-6+ others(35): Show c.-6+3428_-6+3429insGCACACACACACACACACAC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar

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