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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Select column to sort.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ASCC3_chr6_100503194_100886329	100608733	A A	ATATATAT others(5): Show ATATATATATATT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01517.hp1 HG00741.hp2 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0157 a0002c0003t0002g0159 a0002c0003t0002g0157 a0002c0003t0002g0159	2	314	0.0064	12	c.478 others(31): Show c.4786-1646_4786-1645insAATATATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100661323	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG02040.hp1 others(8): Show HG00140.hp1 HG01074.hp1 HG02040.hp1 HG02083.hp2 HG03017.hp2 HG03471.hp1 HG03831.hp1 HG04204.hp2 NA18951.hp1 NA18986.hp1 NA19060.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0006 a0002c0003 a0005c0007 a0001c0006 a0002c0003 a0005c0007	a0001c0006t0005 a0002c0003t0002 a0005c0007t0008 a0001c0006t0005 a0002c0003t0002 a0005c0007t0008	a0001c0006t0005g0168 a0002c0003t0002g0006 a0002c0003t0002g0021 others(8): Show a0001c0006t0005g0168 a0002c0003t0002g0006 a0002c0003t0002g0021 a0002c0003t0002g0024 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0042 a0002c0003t0002g0050 a0002c0003t0002g0054 a0002c0003t0002g0059 a0005c0007t0008g0310	11	314	0.0350	12	c.270 others(29): Show c.2703+471_2703+482dupTGTGTGTGTGTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	16/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100661323	T T	TCGCACAC others(5): Show TCGCACACACACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01928.hp1 HG02132.hp2 others(6): Show HG00621.hp1 HG01928.hp1 HG02132.hp2 NA18944.hp2 NA18964.hp2 NA18980.hp2 NA18981.hp1 NA19002.hp2 NA19054.hp2	a0002 a0009 a0022 a0002 a0009 a0022	a0002c0003 a0009c0036 a0022c0037 a0002c0003 a0009c0036 a0022c0037	a0002c0003t0002 a0009c0036t0002 a0022c0037t0002 a0002c0003t0002 a0009c0036t0002 a0022c0037t0002	a0002c0003t0002g0045 a0002c0003t0002g0047 a0002c0003t0002g0048 others(6): Show a0002c0003t0002g0045 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0051 a0002c0003t0002g0066 a0002c0003t0002g0070 a0002c0003t0002g0071 a0009c0036t0002g0049 a0022c0037t0002g0056	9	314	0.0287	12	c.270 others(29): Show c.2703+482_2703+483insTGTGTGTGTGCG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	16/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100677337	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0189 a0003c0004t0004g0189	1	314	0.0032	12	c.228 others(31): Show c.2286+2280_2286+2281insTTTTTTTTTTTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	14/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687026	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0036 a0002c0003t0002g0036	1	314	0.0032	12	c.215 others(31): Show c.2152-7275_2152-7274insTGTGTGTGTGTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687028	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01074.hp1 HG03831.hp1 HG00544.hp1 HG01074.hp1 HG03831.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0008 a0002c0003 a0004c0008	a0002c0003t0002 a0004c0008t0002 a0002c0003t0002 a0004c0008t0002	a0002c0003t0002g0050 a0002c0003t0002g0054 a0004c0008t0002g0018 a0002c0003t0002g0050 a0002c0003t0002g0054 a0004c0008t0002g0018	3	314	0.0096	12	c.215 others(31): Show c.2152-7277_2152-7276insTGTGTGTGTGTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687030	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00609.hp1 others(34): Show HG00423.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG01109.hp1 HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02976.hp2 HG03017.hp2 HG03453.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18940.hp2 NA18941.hp1 NA18951.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19006.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19077.hp1 NA19078.hp2 NA19088.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0002 a0002c0003 a0006c0009 others(1): Show a0001c0002 a0002c0003 a0006c0009 a0008c0010	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0002 a0006c0009t0001 a0006c0009t0004 a0008c0010t0003	a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0206 others(34): Show a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0002g0083 a0001c0002t0002g0093 a0001c0002t0002g0127 a0001c0002t0002g0142 a0001c0002t0003g0076 a0001c0002t0003g0112 a0001c0002t0003g0139 a0001c0002t0003g0140 a0002c0003t0002g0006 a0002c0003t0002g0009 a0002c0003t0002g0011 a0002c0003t0002g0012 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0019 a0002c0003t0002g0021 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0042 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0064 a0002c0003t0002g0066 a0002c0003t0002g0067 a0006c0009t0001g0307 a0006c0009t0004g0192 a0008c0010t0003g0092	37	314	0.1178	12	c.215 others(31): Show c.2152-7279_2152-7278insTGTGTGTGTGTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687032	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0070 a0002c0003t0002g0070	1	314	0.0032	12	c.215 others(31): Show c.2152-7281_2152-7280insTGTGTGTGTGTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100727649	T T	TAACAACA others(5): Show TAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19002.hp2 NA19054.hp2 HG00621.hp1 NA19002.hp2 NA19054.hp2	a0002 a0009 a0002 a0009	a0002c0003 a0009c0036 a0002c0003 a0009c0036	a0002c0003t0002 a0009c0036t0002 a0002c0003t0002 a0009c0036t0002	a0002c0003t0002g0051 a0002c0003t0002g0066 a0009c0036t0002g0049 a0002c0003t0002g0051 a0002c0003t0002g0066 a0009c0036t0002g0049	3	314	0.0096	12	c.173 others(31): Show c.1738-1958_1738-1947dupGTTGTTGTTGTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100865953	C C	CATTTATT others(5): Show CATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01361.hp2 others(27): Show HG00438.hp2 HG00558.hp1 HG01361.hp2 HG02071.hp2 HG02257.hp2 HG02602.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18950.hp2 NA18971.hp1 NA18974.hp1 NA18977.hp2 NA18983.hp1 NA18991.hp1 NA18998.hp1 NA19011.hp1 NA19043.hp1 NA19068.hp2 NA19077.hp2 NA19085.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0003c0005 a0016c0017	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0003c0004t0004 a0003c0005t0002 a0016c0017t0003	a0001c0001t0002g0085 a0001c0001t0004g0188 a0001c0001t0004g0198 others(27): Show a0001c0001t0002g0085 a0001c0001t0004g0188 a0001c0001t0004g0198 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0136 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0144 a0001c0002t0006g0181 a0001c0002t0006g0183 a0001c0002t0006g0186 a0003c0004t0004g0180 a0003c0004t0004g0182 a0003c0004t0004g0184 a0003c0004t0004g0185 a0003c0004t0004g0187 a0003c0004t0004g0189 a0003c0004t0004g0190 a0003c0004t0004g0191 a0003c0004t0004g0199 a0003c0004t0004g0200 a0003c0005t0002g0147 a0016c0017t0003g0133	30	314	0.0955	12	c.91- others(27): Show c.91-1751_91-1740dupAAATAAATAAAT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	2/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100873132	T T	TAAAATAA others(5): Show TAAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(225): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0016 a0017 a0018 a0019 a0020 a0022	a0001c0001 a0001c0002 a0001c0006 others(26): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0019 a0001c0020 a0001c0029 a0002c0003 a0003c0004 a0003c0005 a0004c0008 a0004c0013 a0005c0007 a0005c0022 a0006c0009 a0006c0027 a0007c0012 a0008c0010 a0009c0036 a0010c0035 a0011c0028 a0012c0018 a0014c0024 a0016c0017 a0017c0031 a0018c0032 a0019c0016 a0020c0033 a0022c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0006t0005 a0001c0011t0001 a0001c0011t0002 a0001c0019t0012 a0001c0020t0003 a0001c0029t0001 a0002c0003t0002 a0002c0003t0018 a0003c0004t0004 a0003c0005t0002 a0004c0008t0002 a0004c0008t0003 a0004c0013t0003 a0005c0007t0001 a0005c0022t0003 a0006c0009t0001 a0006c0009t0002 a0006c0009t0004 a0006c0027t0001 a0007c0012t0009 a0008c0010t0003 a0008c0010t0007 a0009c0036t0002 a0010c0035t0002 a0011c0028t0002 a0012c0018t0002 a0014c0024t0001 a0016c0017t0003 a0017c0031t0003 a0018c0032t0019 a0019c0016t0002 a0020c0033t0001 a0022c0037t0002	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 others(225): Show a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0004g0188 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0015g0300 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0290 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0142 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0132 a0001c0002t0003g0137 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0153 a0001c0002t0006g0181 a0001c0002t0006g0183 a0001c0002t0006g0186 a0001c0002t0011g0003 a0001c0002t0013g0121 a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 a0001c0006t0005g0164 a0001c0006t0005g0165 a0001c0006t0005g0166 a0001c0006t0005g0167 a0001c0006t0005g0168 a0001c0006t0005g0169 a0001c0006t0005g0170 a0001c0011t0001g0297 a0001c0011t0002g0072 a0001c0011t0002g0073 a0001c0019t0012g0120 a0001c0020t0003g0134 a0001c0029t0001g0303 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0012 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0019 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0064 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0159 a0002c0003t0018g0311 a0003c0004t0004g0171 a0003c0004t0004g0172 a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0004g0175 a0003c0004t0004g0176 a0003c0004t0004g0177 a0003c0004t0004g0178 a0003c0004t0004g0179 a0003c0004t0004g0180 a0003c0004t0004g0182 a0003c0004t0004g0184 a0003c0004t0004g0185 a0003c0004t0004g0187 a0003c0004t0004g0189 a0003c0004t0004g0190 a0003c0004t0004g0191 a0003c0004t0004g0193 a0003c0004t0004g0194 a0003c0004t0004g0195 a0003c0004t0004g0199 a0003c0004t0004g0200 a0003c0005t0002g0131 a0003c0005t0002g0147 a0003c0005t0002g0148 a0003c0005t0002g0149 a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0152 a0003c0005t0002g0154 a0003c0005t0002g0155 a0003c0005t0002g0156 a0004c0008t0002g0018 a0004c0008t0002g0020 a0004c0008t0003g0055 a0004c0008t0003g0057 a0004c0008t0003g0063 a0004c0013t0003g0040 a0004c0013t0003g0065 a0005c0007t0001g0291 a0005c0007t0001g0292 a0005c0007t0001g0293 a0005c0022t0003g0098 a0006c0009t0001g0307 a0006c0009t0002g0111 a0006c0009t0004g0192 a0006c0027t0001g0305 a0007c0012t0009g0312 a0007c0012t0009g0313 a0008c0010t0003g0092 a0008c0010t0007g0002 a0008c0010t0007g0004 a0009c0036t0002g0049 a0010c0035t0002g0044 a0011c0028t0002g0074 a0012c0018t0002g0005 a0014c0024t0001g0294 a0016c0017t0003g0133 a0017c0031t0003g0110 a0018c0032t0019g0314 a0019c0016t0002g0160 a0020c0033t0001g0207 a0022c0037t0002g0056	228	314	0.7261	12	c.-41 others(29): Show c.-41-5095_-41-5094insTTTATTTATTTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	1/41						chr6	TogoVar
ASCL1_chr12_102952674_102965513	102958393	C C	CGCAGCAG others(5): Show CGCAGCAGCAGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01358.hp1 HG01358.hp2 HG01952.hp1 others(2): Show HG01358.hp1 HG01358.hp2 HG01952.hp1 HG02818.hp1 HG03540.hp1	a0006 a0006	a0006c0010 a0006c0012 a0006c0010 a0006c0012	a0006c0010t0001 a0006c0012t0005 a0006c0010t0001 a0006c0012t0005	a0006c0010t0001g0001 a0006c0012t0005g0001 a0006c0010t0001g0001 a0006c0012t0005g0001	5	354	0.0141	12	c.175 others(19): Show c.175_186dupCAGCAGCAGCAG	p.Gln others(11): Show p.Gln59_Gln62dup	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	758/2481	187/711	63/236		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962372	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02055.hp1 HG02083.hp2 others(5): Show HG02004.hp1 HG02055.hp1 HG02083.hp2 HG02257.hp2 HG02280.hp2 HG02818.hp1 NA18962.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0002c0002 a0002c0005 others(4): Show a0001c0001 a0002c0002 a0002c0005 a0002c0009 a0003c0003 a0006c0012 a0008c0017	a0001c0001t0003 a0002c0002t0002 a0002c0005t0005 others(4): Show a0001c0001t0003 a0002c0002t0002 a0002c0005t0005 a0002c0009t0006 a0003c0003t0008 a0006c0012t0005 a0008c0017t0012	a0001c0001t0003g0001 a0002c0002t0002g0001 a0002c0005t0005g0001 others(4): Show a0001c0001t0003g0001 a0002c0002t0002g0001 a0002c0005t0005g0001 a0002c0009t0006g0001 a0003c0003t0008g0001 a0006c0012t0005g0001 a0008c0017t0012g0001	8	354	0.0226	12	c.30 others(23): Show c.3058_*3059insTTTCTTTCTTTC		ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding					1860		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962423	T T	TCTTTCTT others(5): Show TCTTTCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	12	c.31 others(23): Show c.3109_*3110insCTTTCTTCCTTC		ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding					1911		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962423	T T	TCTTTCTT others(5): Show TCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01943.hp2 HG02145.hp2 others(7): Show HG01081.hp1 HG01943.hp2 HG02145.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03453.hp1 HG04199.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0011 others(1): Show a0001c0001 a0002c0002 a0002c0011 a0005c0004	a0001c0001t0007 a0002c0002t0002 a0002c0002t0006 others(2): Show a0001c0001t0007 a0002c0002t0002 a0002c0002t0006 a0002c0011t0002 a0005c0004t0012	a0001c0001t0007g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(2): Show a0001c0001t0007g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 a0002c0011t0002g0001 a0005c0004t0012g0001	10	354	0.0283	12	c.31 others(23): Show c.3109_*3110insCTTTCTTTCTTC		ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding					1911		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG02922.hp1 others(5): Show HG01891.hp2 HG02647.hp1 HG02922.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0006 a0002c0002 a0002c0005 others(3): Show a0001c0006 a0002c0002 a0002c0005 a0004c0007 a0004c0020 a0005c0004	a0001c0006t0009 a0002c0002t0002 a0002c0005t0005 others(3): Show a0001c0006t0009 a0002c0002t0002 a0002c0005t0005 a0004c0007t0004 a0004c0020t0002 a0005c0004t0013	a0001c0006t0009g0001 a0002c0002t0002g0001 a0002c0005t0005g0001 others(3): Show a0001c0006t0009g0001 a0002c0002t0002g0001 a0002c0005t0005g0001 a0004c0007t0004g0001 a0004c0020t0002g0001 a0005c0004t0013g0001	8	354	0.0226	12	c.31 others(23): Show c.3126_*3127insTCTTTCTTTCTT		ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding					1928		chr12	TogoVar
ASCL4_chr12_107769704_107781644	107773043	A A	AAATAATA others(5): Show AAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02027.hp1 HG02129.hp1 others(10): Show HG00735.hp1 HG02027.hp1 HG02129.hp1 HG02486.hp2 HG02683.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03927.hp2 HG04228.hp2 NA18967.hp1 NA18986.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0021 a0003c0003t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0002c0002t0021g0000 a0003c0003t0002g0000	13	462	0.0281	12	c.-21 others(23): Show c.-2176_-2175insAATAATAATAAT		ASCL4	ENSG00000187855.6	transcript	ENST00000342331.5	protein_coding					1660		chr12	TogoVar
ASF1B_chr19_14114512_14141589	14114987	A A	ACTGCCCC others(5): Show ACTGCCCCTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	334	0.0030	12	c.54 others(23): Show c.5460_*5471dupGGGCAGGGGCAG		ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding					4524		chr19	TogoVar
ASF1B_chr19_14114512_14141589	14130787	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19240.hp2 HG02055.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0218 a0001c0002t0009g0215 a0001c0002t0002g0218 a0001c0002t0009g0215	2	334	0.0060	12	c.110 others(29): Show c.110-4551_110-4550insTATATATATACA		ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding	1/3						chr19	TogoVar
ASGR1_chr17_7168431_7184370	7176792	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	442	0.0023	12	c.355 others(25): Show c.355+26_355+37dupTGTGTGTGTGTG		ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	5/8						chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097660	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	2	432	0.0046	12	c.39 others(23): Show c.3914_*3915insCACACACACACA		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3665		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097662	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG03704.hp2 NA19062.hp1 others(1): Show HG02602.hp1 HG03704.hp2 NA19062.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0195 a0001c0001t0002g0002 a0001c0001t0002g0086 others(1): Show a0001c0001t0001g0195 a0001c0001t0002g0002 a0001c0001t0002g0086 a0001c0001t0003g0283	4	432	0.0093	12	c.39 others(23): Show c.3912_*3913insCACACACACACA		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3663		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097664	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0280 a0001c0002t0003g0280	1	432	0.0023	12	c.39 others(23): Show c.3910_*3911insCACACACACACA		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3661		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097666	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18944.hp1 NA18967.hp1 others(3): Show NA18747.hp1 NA18944.hp1 NA18967.hp1 NA18983.hp2 NA18990.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0073 a0001c0002t0003g0019 a0001c0002t0003g0282 others(3): Show a0001c0002t0002g0073 a0001c0002t0003g0019 a0001c0002t0003g0282 a0001c0002t0003g0284 a0001c0002t0003g0291 a0001c0002t0003g0296	6	432	0.0139	12	c.39 others(23): Show c.3908_*3909insCACACACACACA		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3659		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097674	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03225.hp1 NA18906.hp2 HG03209.hp1 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162	3	432	0.0069	12	c.39 others(23): Show c.3900_*3901insCACACACACACA		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3651		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7104348	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01169.hp2 HG02886.hp2 others(3): Show HG01074.hp1 HG01169.hp2 HG02886.hp2 NA18944.hp1 NA18967.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0244 a0001c0002t0003g0046 a0001c0002t0003g0282 others(2): Show a0001c0001t0001g0244 a0001c0002t0003g0046 a0001c0002t0003g0282 a0001c0002t0003g0284 a0001c0002t0003g0296	6	432	0.0139	12	c.649 others(29): Show c.649-2164_649-2153dupTTTTTTTTTTTT		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	7/8						chr17	TogoVar
ASGR2_chr17_7096326_7119822	7116889	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0215 a0004c0015t0001g0215	1	432	0.0023	12	c.-23 others(23): Show c.-2346_-2345insCAAAAAAAAAAA		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					2068		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7118481	G G	GAGGAAGG others(5): Show GAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	432	0.0023	12	c.-39 others(23): Show c.-3938_-3937insTCCTTCCTTCCT		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3660		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155332458	G G	GTATATAT others(5): Show GTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	182	0.0055	12	c.52 others(23): Show c.5201_*5202insTATATATATATA		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding					2809		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155332460	G G	GTATATAT others(5): Show GTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	182	0.0055	12	c.51 others(23): Show c.5199_*5200insTATATATATATA		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding					2807		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155357078	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18970.hp1 NA19030.hp2 NA18949.hp1 NA18970.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0020 a0001c0001t0001g0132 a0001c0001t0008g0137 a0001c0001t0001g0020 a0001c0001t0001g0132 a0001c0001t0008g0137	3	182	0.0165	12	c.705 others(29): Show c.7055+226_7055+237dupGTGTGTGTGTGT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	15/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411578	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0084	1	182	0.0055	12	c.600 others(31): Show c.6008+4165_6008+4166insATATATATATAT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	182	0.0055	12	c.600 others(31): Show c.6008+4161_6008+4162insATATATATATAT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(5): Show AATAAATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	182	0.0055	12	c.600 others(31): Show c.6008+4157_6008+4158insATATATATTTAT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155489795	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG01074.hp2 others(26): Show HG00408.hp2 HG00621.hp1 HG01074.hp2 HG01099.hp1 HG01192.hp2 HG01261.hp2 HG01516.hp1 HG02074.hp2 HG02083.hp2 HG02280.hp1 HG02683.hp1 HG03017.hp1 HG03195.hp2 HG03490.hp1 HG03688.hp1 HG03942.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18951.hp2 NA18954.hp1 NA18970.hp2 NA18977.hp2 NA18983.hp2 NA19009.hp2 NA19057.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0017 a0003c0003 a0001c0001 a0001c0017 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0017t0001 a0003c0003t0003	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 others(26): Show a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0126 a0001c0001t0001g0155 a0001c0001t0007g0131 a0001c0001t0011g0002 a0001c0001t0017g0034 a0001c0001t0018g0144 a0001c0017t0001g0059 a0003c0003t0003g0176	29	182	0.1593	12	c.421 others(29): Show c.421-7358_421-7347dupATTTATTTATTT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155490614	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG03453.hp1 HG02055.hp1 HG02280.hp1 HG03453.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0008 a0007c0007 a0001c0001 a0001c0008 a0007c0007	a0001c0001t0007 a0001c0008t0002 a0007c0007t0007 a0001c0001t0007 a0001c0008t0002 a0007c0007t0007	a0001c0001t0007g0131 a0001c0008t0002g0168 a0007c0007t0007g0130 a0001c0001t0007g0131 a0001c0008t0002g0168 a0007c0007t0007g0130	3	182	0.0165	12	c.421 others(29): Show c.421-8177_421-8166dupTGTGTGTGTGTG		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155551245	G G	GACTAACT others(5): Show GACTAACTATCCA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0100 a0006c0006t0001g0100	1	182	0.0055	12	c.-10 others(33): Show c.-100+10907_-100+10908insTGGATAGTTAGT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	1/27						chr1	TogoVar
ASH2L_chr8_38100529_38145080	38112300	C C	CTTTATTT others(5): Show CTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03471.hp1 HG00544.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0264 a0001c0002t0001g0299 a0001c0002t0001g0264 a0001c0002t0001g0299	2	330	0.0061	12	c.585 others(29): Show c.585+1488_585+1499dupTTTATTTATTTA		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38121333	T T	TTATTTAT others(5): Show TTATTTATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	330	0.0030	12	c.116 others(29): Show c.1165+187_1165+188insTTATATATATAT		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38126853	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp2 HG02258.hp1 others(13): Show HG00597.hp2 HG01243.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02647.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03579.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0005c0009	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0005c0009t0001	a0001c0001t0001g0011 a0001c0001t0001g0118 a0001c0001t0001g0152 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0118 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0200 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0225 a0001c0003t0002g0260 a0001c0003t0002g0261 a0001c0004t0001g0062 a0001c0004t0001g0063 a0005c0009t0001g0212	16	330	0.0485	12	c.116 others(31): Show c.1166-1432_1166-1431insAAAAAAAAAAAA		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00642.hp2 others(46): Show HG00408.hp1 HG00609.hp2 HG00642.hp2 HG01243.hp1 HG01361.hp1 HG01361.hp2 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02258.hp2 HG02559.hp2 HG02630.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp2 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19062.hp1 NA19079.hp2 NA19083.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0004c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 others(45): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0263 a0001c0001t0008g0258 a0001c0002t0001g0002 a0001c0002t0001g0249 a0001c0002t0001g0271 a0001c0002t0001g0279 a0001c0002t0001g0291 a0001c0002t0001g0297 a0004c0007t0001g0239	49	330	0.1485	12	c.34 others(23): Show c.3420_*3421insTGTGTGTGTGTG		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding					2412		chr8	TogoVar
ASIC1_chr12_50052596_50088611	50069256	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0074 a0001c0001t0008g0074	1	324	0.0031	12	c.559 others(29): Show c.559-7930_559-7919dupTATTTATTTATT		ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC1_chr12_50052596_50088611	50074860	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03209.hp1 NA18990.hp1 HG02559.hp1 HG03209.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0166 a0001c0003t0001g0068 a0001c0003t0001g0071 a0001c0002t0002g0166 a0001c0003t0001g0068 a0001c0003t0001g0071	3	324	0.0093	12	c.559 others(29): Show c.559-2317_559-2306dupGTGTGTGTGTGT		ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC2_chr17_33008087_33298295	33023492	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0125 a0001c0002t0002g0125	1	240	0.0042	12	c.134 others(29): Show c.1349+357_1349+368dupCTTTTTTTTTTT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	6/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33032440	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0225 a0001c0001t0019g0225	1	240	0.0042	12	c.988 others(29): Show c.988-4060_988-4049dupAAAAAAAAAAAA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33167797	T T	TTTGCTTA others(5): Show TTTGCTTAAGGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG01496.hp2 others(4): Show HG01261.hp1 HG01358.hp1 HG01496.hp2 HG02698.hp2 HG04115.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0007 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0007 a0001c0002t0001 a0001c0004t0001 a0001c0004t0008 a0002c0003t0005	a0001c0001t0007g0230 a0001c0001t0007g0233 a0001c0002t0001g0118 others(4): Show a0001c0001t0007g0230 a0001c0001t0007g0233 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0004t0001g0141 a0001c0004t0008g0154 a0002c0003t0005g0210	7	240	0.0292	12	c.709 others(31): Show c.709-55731_709-55730insCACCTTAAGCAA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269613	C C	CCCTTCCT others(5): Show CCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(29): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG02132.hp2 HG02145.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG06807.hp1 NA18983.hp1 NA18993.hp1 NA19007.hp1 NA19030.hp1 NA19070.hp1 NA19070.hp2 NA19088.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(16): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0001c0002t0025 a0001c0002t0029 a0001c0004t0005 a0001c0004t0016 a0001c0004t0027 a0001c0005t0006 a0001c0007t0003 a0002c0003t0001	a0001c0001t0003g0018 a0001c0001t0003g0027 a0001c0001t0003g0032 others(29): Show a0001c0001t0003g0018 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0041 a0001c0001t0003g0078 a0001c0001t0004g0034 a0001c0001t0004g0055 a0001c0001t0006g0026 a0001c0001t0006g0045 a0001c0001t0006g0050 a0001c0001t0007g0237 a0001c0001t0011g0002 a0001c0001t0013g0051 a0001c0001t0034g0229 a0001c0002t0001g0097 a0001c0002t0001g0114 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0140 a0001c0002t0005g0096 a0001c0002t0005g0103 a0001c0002t0012g0089 a0001c0002t0025g0088 a0001c0002t0029g0104 a0001c0004t0005g0144 a0001c0004t0016g0148 a0001c0004t0027g0147 a0001c0005t0006g0083 a0001c0007t0003g0048 a0002c0003t0001g0198 a0002c0003t0001g0202	32	240	0.1333	12	c.708 others(31): Show c.708+21783_708+21794dupAAGGAAGGAAGG		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269751	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp1 HG02055.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0005 a0001c0001t0021 a0001c0002t0005	a0001c0001t0021g0028 a0001c0002t0005g0102 a0001c0001t0021g0028 a0001c0002t0005g0102	2	240	0.0083	12	c.708 others(31): Show c.708+21645_708+21656dupGGAAGGAAGGAA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269759	C C	CTTCCTTC others(5): Show CTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02965.hp1 HG02280.hp2 HG02451.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015	3	240	0.0125	12	c.708 others(31): Show c.708+21648_708+21649insAGAAGGAAGGAA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33288715	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0238 a0001c0001t0033g0238	1	240	0.0042	12	c.708 others(29): Show c.708+2681_708+2692dupGTGTGTGTGTGT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar

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