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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CFB_chr6_31941095_31957084	31954568	CTCTCGG CTCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02486.hp1 others(8): Show HG01891.hp2 HG02145.hp1 HG02486.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	11	431	0.0255	-6	c.25 others(17): Show c.2539_*2544delTCTCGG	CFB	ENSG00000243649.10	transcript	ENST00000425368.7	protein_coding		2485		chr6	TogoVar
CFC1_chr2_130587165_130604575	130588083	ATTTTTT ATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01261.hp2 others(24): Show HG00099.hp2 HG00738.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02622.hp1 HG03688.hp2 HG04199.hp1 HG04204.hp2 NA18906.hp2 NA18941.hp1 NA18947.hp2 NA18948.hp1 NA18981.hp2 NA18986.hp1 NA18997.hp2 NA19057.hp1 NA19062.hp2 NA19079.hp1 NA19082.hp2 NA19090.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0002g0038 a0001c0001t0008g0050 a0008c0010t0001g0043	27	242	0.1116	-6	c.47 others(17): Show c.4788_*4793delAAAAAA	CFC1	ENSG00000136698.10	transcript	ENST00000259216.6	protein_coding		4081		chr2	TogoVar
CFD_chr19_854664_868641	864042	CCACACA CCACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01884.hp2 HG01891.hp2 others(24): Show HG01168.hp1 HG01884.hp2 HG01891.hp2 HG02148.hp2 HG02258.hp1 HG02300.hp2 HG02683.hp2 HG02717.hp1 HG02970.hp1 HG03098.hp1 HG03239.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp1 NA18906.hp1 NA18940.hp1 NA18970.hp2 NA18992.hp2 NA19012.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0025 a0001c0001t0003g0004 a0001c0001t0003g0014 others(11): Show a0001c0001t0001g0025 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0003g0023 a0001c0001t0003g0031 a0001c0001t0003g0047 a0001c0001t0003g0079 a0001c0001t0006g0038 a0001c0001t0006g0044 a0001c0001t0009g0010 a0001c0001t0009g0059 a0001c0001t0012g0004 a0001c0001t0012g0032 a0001c0001t0014g0004	27	287	0.0941	-6	c.80 others(15): Show c.805_*810delCACACA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		402		chr19	TogoVar
CFHR1_chr1_196814731_196837189	196821736	AGTGAGT AGTGAGT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00621.hp2 others(24): Show HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01081.hp1 HG01496.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp2 HG02074.hp1 HG02132.hp1 HG02523.hp1 HG02523.hp2 HG03486.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18963.hp1 NA18969.hp1 NA18972.hp1 NA18987.hp2 NA19058.hp2 NA19065.hp2 NA19072.hp1 NA19084.hp2 NA19240.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0003c0005 a0003c0006 others(1): Show a0001c0002 a0003c0005 a0003c0006 a0008c0008	a0001c0002t0002 a0003c0005t0001 a0003c0006t0001 others(1): Show a0001c0002t0002 a0003c0005t0001 a0003c0006t0001 a0008c0008t0001	a0001c0002t0002g0007 a0001c0002t0002g0015 a0001c0002t0002g0036 others(9): Show a0001c0002t0002g0007 a0001c0002t0002g0015 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0003c0005t0001g0008 a0003c0006t0001g0016 a0008c0008t0001g0008	27	275	0.0982	-6	c.58+ others(21): Show c.58+1838_58+1843delAGTGTG	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772636	ACTCTCT ACTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA18949.hp2 NA18977.hp1 HG00408.hp2 NA18949.hp2 NA18977.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0069 a0002c0001t0002g0070 a0002c0001t0002g0003 a0002c0001t0002g0069 a0002c0001t0002g0070	3	261	0.0115	-6	c.-22 others(17): Show c.-2250_-2245delCTCTCT	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2203		chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772655	CTCTCTA CTCTCTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02056.hp1 HG03471.hp1 others(17): Show HG02027.hp1 HG02056.hp1 HG03471.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18952.hp1 NA18957.hp1 NA18964.hp2 NA18966.hp1 NA18987.hp2 NA18998.hp1 NA19002.hp2 NA19009.hp1 NA19055.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19079.hp1 NA19086.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0008 others(11): Show a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0008 a0002c0001t0002g0015 a0002c0001t0002g0049 a0002c0001t0002g0052 a0002c0001t0002g0063 a0002c0001t0002g0064 a0002c0001t0002g0066 a0002c0001t0002g0067 a0002c0001t0002g0071 a0002c0001t0002g0072 a0002c0001t0002g0079 a0002c0001t0002g0080	20	261	0.0766	-6	c.-22 others(17): Show c.-2231_-2226delTCTCTA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2184		chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772657	CTCTATA CTCTATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp1 others(65): Show HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01361.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02738.hp1 HG02738.hp2 HG03831.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19072.hp1 NA19079.hp2 NA19084.hp2 NA20905.hp1 NA21309.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0006c0008 a0002c0001 a0006c0008	a0002c0001t0002 a0002c0001t0008 a0002c0001t0009 others(2): Show a0002c0001t0002 a0002c0001t0008 a0002c0001t0009 a0002c0001t0015 a0006c0008t0002	a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0005 others(36): Show a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0005 a0002c0001t0002g0007 a0002c0001t0002g0008 a0002c0001t0002g0009 a0002c0001t0002g0014 a0002c0001t0002g0016 a0002c0001t0002g0017 a0002c0001t0002g0024 a0002c0001t0002g0025 a0002c0001t0002g0044 a0002c0001t0002g0045 a0002c0001t0002g0046 a0002c0001t0002g0048 a0002c0001t0002g0050 a0002c0001t0002g0051 a0002c0001t0002g0053 a0002c0001t0002g0054 a0002c0001t0002g0055 a0002c0001t0002g0056 a0002c0001t0002g0057 a0002c0001t0002g0059 a0002c0001t0002g0060 a0002c0001t0002g0061 a0002c0001t0002g0062 a0002c0001t0002g0065 a0002c0001t0002g0068 a0002c0001t0002g0073 a0002c0001t0002g0075 a0002c0001t0002g0076 a0002c0001t0002g0077 a0002c0001t0002g0078 a0002c0001t0002g0081 a0002c0001t0002g0082 a0002c0001t0008g0058 a0002c0001t0009g0003 a0002c0001t0015g0014 a0006c0008t0002g0074	68	261	0.2605	-6	c.-22 others(17): Show c.-2229_-2224delTCTATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2182		chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772659	CTATATA CTATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01934.hp1 HG01952.hp1 others(13): Show HG00544.hp1 HG01934.hp1 HG01952.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02300.hp2 HG03942.hp2 NA18957.hp2 NA18964.hp1 NA18971.hp1 NA18981.hp2 NA18991.hp2 NA19060.hp1 NA19082.hp1 NA19087.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0014 a0002c0001t0002 a0002c0001t0014	a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0007 others(4): Show a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0007 a0002c0001t0002g0023 a0002c0001t0002g0043 a0002c0001t0002g0083 a0002c0001t0014g0047	16	261	0.0613	-6	c.-22 others(17): Show c.-2227_-2222delTATATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2180		chr1	TogoVar
CFHR3_chr1_196769840_196800407	196773687	TATATAC TATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01975.hp1 others(30): Show HG00544.hp1 HG00544.hp2 HG01975.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02165.hp1 HG02738.hp1 HG02738.hp2 HG03942.hp2 NA18944.hp1 NA18948.hp1 NA18957.hp2 NA18966.hp1 NA18971.hp1 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19064.hp2 NA19068.hp2 NA19072.hp1 NA19086.hp1 NA19087.hp1 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0010 a0002c0001 a0006c0008 a0001c0010 a0002c0001 a0006c0008	a0001c0010t0001 a0002c0001t0002 a0006c0008t0002 a0001c0010t0001 a0002c0001t0002 a0006c0008t0002	a0001c0010t0001g0106 a0002c0001t0002g0003 a0002c0001t0002g0004 others(18): Show a0001c0010t0001g0106 a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0005 a0002c0001t0002g0007 a0002c0001t0002g0008 a0002c0001t0002g0009 a0002c0001t0002g0014 a0002c0001t0002g0015 a0002c0001t0002g0016 a0002c0001t0002g0017 a0002c0001t0002g0044 a0002c0001t0002g0046 a0002c0001t0002g0051 a0002c0001t0002g0063 a0002c0001t0002g0065 a0002c0001t0002g0066 a0002c0001t0002g0071 a0002c0001t0002g0075 a0002c0001t0002g0077 a0006c0008t0002g0074	33	261	0.1264	-6	c.-11 others(17): Show c.-1199_-1194delATATAC	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		1152		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196908607	ATGAACT ATGAACT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp1 NA20300.hp2 HG03453.hp2 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161	3	350	0.0086	-6	c.799 others(23): Show c.799+1114_799+1119delCTTGAA	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR5_chr1_196972556_197014678	196980333	TATTATC TATTATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG00741.hp2 others(31): Show HG00140.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01123.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG02056.hp1 HG02071.hp1 HG02148.hp2 HG02165.hp1 HG02809.hp1 HG03710.hp2 HG04184.hp1 HG06807.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18952.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18980.hp2 NA18987.hp1 NA18988.hp1 NA18998.hp2 NA19011.hp2 NA19079.hp2 NA19086.hp2 NA19089.hp2 NA20805.hp1 NA20905.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0008	a0001c0001 a0005c0009 a0006c0011 others(1): Show a0001c0001 a0005c0009 a0006c0011 a0008c0014	a0001c0001t0001 a0005c0009t0001 a0006c0011t0001 others(1): Show a0001c0001t0001 a0005c0009t0001 a0006c0011t0001 a0008c0014t0009	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0005c0009t0001g0052 a0005c0009t0001g0053 a0006c0011t0001g0013 a0008c0014t0009g0056	34	356	0.0955	-6	c.59- others(21): Show c.59-2544_59-2539delTTATCA	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR5_chr1_196972556_197014678	196980591	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01192.hp1 others(14): Show HG01069.hp1 HG01071.hp2 HG01192.hp1 HG01346.hp1 HG01891.hp1 HG02698.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03239.hp1 HG03486.hp1 HG03688.hp2 HG03710.hp1 NA19043.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0004c0008 a0009c0013	a0001c0001t0003 a0001c0007t0003 a0002c0002t0001 others(2): Show a0001c0001t0003 a0001c0007t0003 a0002c0002t0001 a0004c0008t0001 a0009c0013t0003	a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0088 others(12): Show a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0088 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0007t0003g0119 a0002c0002t0001g0081 a0004c0008t0001g0132 a0004c0008t0001g0133 a0009c0013t0003g0122	17	356	0.0478	-6	c.59- others(21): Show c.59-2261_59-2256delGTGTGT	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR5_chr1_196972556_197014678	196999683	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18945.hp2 NA18969.hp2 others(3): Show NA18612.hp1 NA18945.hp2 NA18969.hp2 NA19006.hp1 NA19072.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0003 a0002c0002t0004 a0002c0005t0004 a0001c0001t0003 a0002c0002t0004 a0002c0005t0004	a0001c0001t0003g0125 a0002c0002t0004g0025 a0002c0005t0004g0082 others(2): Show a0001c0001t0003g0125 a0002c0002t0004g0025 a0002c0005t0004g0082 a0002c0005t0004g0083 a0002c0005t0004g0084	6	356	0.0169	-6	c.114 others(25): Show c.1147+1414_1147+1419delTATATA	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR5_chr1_196972556_197014678	196999722	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01981.hp1 HG02165.hp2 others(3): Show HG01346.hp2 HG01981.hp1 HG02165.hp2 NA18948.hp1 NA18987.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0201 others(3): Show a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0222 a0001c0001t0001g0224	6	356	0.0169	-6	c.114 others(25): Show c.1147+1426_1147+1431delCACACA	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196648814	CAAAAAT CAAAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02109.hp2 HG02280.hp2 others(25): Show HG01099.hp1 HG02109.hp2 HG02280.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18942.hp1 NA18955.hp1 NA18978.hp2 NA18997.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19240.hp1	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0015 a0016	a0001c0001 a0005c0005 a0006c0006 others(3): Show a0001c0001 a0005c0005 a0006c0006 a0006c0017 a0015c0022 a0016c0021	a0001c0001t0001 a0001c0001t0004 a0005c0005t0002 others(5): Show a0001c0001t0001 a0001c0001t0004 a0005c0005t0002 a0005c0005t0003 a0006c0006t0001 a0006c0017t0001 a0015c0022t0002 a0016c0021t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0004g0290 a0005c0005t0002g0005 a0005c0005t0002g0010 a0005c0005t0002g0011 a0005c0005t0002g0012 a0005c0005t0003g0292 a0006c0006t0001g0014 a0006c0017t0001g0013 a0015c0022t0002g0006 a0016c0021t0001g0287	28	308	0.0909	-6	c.-33 others(17): Show c.-3303_-3298delAAAAAT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding		3228		chr1	TogoVar
CFH_chr1_196647043_196752504	196693955	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp1 HG03453.hp2 others(3): Show HG01243.hp1 HG02723.hp1 HG03453.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0029 a0005c0005t0002g0293 a0005c0005t0002g0297 others(3): Show a0005c0005t0002g0029 a0005c0005t0002g0293 a0005c0005t0002g0297 a0005c0005t0002g0298 a0005c0005t0002g0299 a0005c0005t0002g0301	6	308	0.0195	-6	c.133 others(25): Show c.1336+3747_1336+3752delGTGTGT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196748053	ATGTGTG ATGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 NA18969.hp2 NA18972.hp1 others(1): Show HG02523.hp2 NA18969.hp2 NA18972.hp1 NA19072.hp2	a0010 a0013 a0010 a0013	a0010c0014 a0013c0016 a0010c0014 a0013c0016	a0010c0014t0001 a0013c0016t0001 a0010c0014t0001 a0013c0016t0001	a0010c0014t0001g0017 a0010c0014t0001g0018 a0013c0016t0001g0030 others(1): Show a0010c0014t0001g0017 a0010c0014t0001g0018 a0013c0016t0001g0030 a0013c0016t0001g0036	4	308	0.0130	-6	c.74 others(15): Show c.741_*746delTGTGTG	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding		550		chr1	TogoVar
CFLAR_chr2_201111164_201181687	201165241	CTTATTA CTTATTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(98): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19078.hp2 NA19081.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(47): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0031 a0001c0002t0035 a0001c0002t0041 a0001c0002t0045 a0001c0002t0115 a0001c0002t0116 a0001c0002t0117 a0001c0002t0123 a0001c0002t0124 a0001c0002t0125 a0001c0002t0126 a0001c0002t0127 a0001c0006t0001 a0001c0006t0006 a0002c0003t0029 a0002c0003t0103 a0003c0008t0012	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0077 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0206 a0001c0001t0005g0001 a0001c0001t0005g0068 a0001c0001t0005g0105 a0001c0001t0005g0131 a0001c0001t0005g0162 a0001c0001t0006g0070 a0001c0001t0006g0141 a0001c0001t0006g0166 a0001c0001t0006g0197 a0001c0001t0009g0008 a0001c0001t0009g0047 a0001c0001t0009g0050 a0001c0001t0009g0052 a0001c0001t0026g0001 a0001c0001t0026g0011 a0001c0001t0027g0125 a0001c0001t0027g0207 a0001c0001t0028g0098 a0001c0001t0028g0109 a0001c0001t0033g0048 a0001c0001t0033g0049 a0001c0001t0034g0059 a0001c0001t0034g0064 a0001c0001t0087g0136 a0001c0001t0088g0122 a0001c0001t0089g0127 a0001c0001t0090g0124 a0001c0001t0091g0119 a0001c0001t0092g0113 a0001c0001t0093g0134 a0001c0001t0094g0012 a0001c0001t0095g0120 a0001c0001t0096g0165 a0001c0001t0097g0199 a0001c0001t0098g0007 a0001c0001t0099g0156 a0001c0001t0100g0140 a0001c0001t0101g0014 a0001c0001t0102g0015 a0001c0001t0104g0001 a0001c0001t0133g0057 a0001c0001t0134g0051 a0001c0001t0135g0061 a0001c0002t0007g0006 a0001c0002t0007g0036 a0001c0002t0007g0037 a0001c0002t0007g0038 a0001c0002t0008g0023 a0001c0002t0008g0026 a0001c0002t0008g0028 a0001c0002t0008g0030 a0001c0002t0008g0040 a0001c0002t0012g0005 a0001c0002t0012g0031 a0001c0002t0012g0172 a0001c0002t0013g0002 a0001c0002t0013g0021 a0001c0002t0013g0022 a0001c0002t0013g0024 a0001c0002t0031g0002 a0001c0002t0031g0170 a0001c0002t0035g0032 a0001c0002t0041g0042 a0001c0002t0045g0043 a0001c0002t0115g0200 a0001c0002t0116g0210 a0001c0002t0117g0208 a0001c0002t0123g0033 a0001c0002t0124g0005 a0001c0002t0125g0041 a0001c0002t0126g0025 a0001c0002t0127g0027 a0001c0006t0001g0001 a0001c0006t0001g0123 a0001c0006t0006g0152 a0002c0003t0029g0145 a0002c0003t0029g0167 a0002c0003t0103g0146 a0003c0008t0012g0034	101	234	0.4316	-6	c.13 others(17): Show c.1310_*1315delATTATT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	10/10	1310	INFO_REALIGN_3_PRIME	chr2	TogoVar
CFTR_chr7_117475025_117673665	117490312	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02257.hp1 others(13): Show HG01243.hp2 HG01891.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0001c0005t0003 a0001c0006t0003	a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(13): Show a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0004g0009 a0001c0001t0004g0118 a0001c0004t0002g0115 a0001c0005t0003g0156 a0001c0006t0003g0198	16	202	0.0792	-6	c.53+ others(23): Show c.53+10203_53+10208delCACACA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117566248	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp2 HG03139.hp1 HG01074.hp1 HG01192.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0063 a0001c0004t0002g0137 a0001c0004t0002g0186 a0001c0001t0002g0063 a0001c0004t0002g0137 a0001c0004t0002g0186	3	202	0.0149	-6	c.158 others(25): Show c.1584+6626_1584+6631delACACAC	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612017	ATATATG ATATATG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp2 HG03041.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0003 a0001c0001t0004 a0001c0005t0003	a0001c0001t0004g0182 a0001c0005t0003g0196 a0001c0001t0004g0182 a0001c0005t0003g0196	2	202	0.0099	-6	c.336 others(23): Show c.3367+215_3367+220delGTATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGB5_chr19_49038848_49050311	49046577	GTTTTGT GTTTTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG02970.hp1 others(1): Show HG01109.hp1 HG01433.hp1 HG02970.hp1 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0010 a0001c0006t0009 a0001c0006t0010	a0001c0006t0009g0014 a0001c0006t0009g0015 a0001c0006t0010g0014 others(1): Show a0001c0006t0009g0014 a0001c0006t0009g0015 a0001c0006t0010g0014 a0001c0006t0010g0015	4	382	0.0105	-6	c.12 others(17): Show c.1284_*1289delTTTTGT	CGB5	ENSG00000189052.7	transcript	ENST00000301408.7	protein_coding		1267		chr19	TogoVar
CGB8_chr19_49042638_49054111	49046577	GTTTTGT GTTTTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG02970.hp1 others(1): Show HG01109.hp1 HG01433.hp1 HG02970.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0007 a0001c0003 a0001c0006 a0001c0007	a0001c0003t0008 a0001c0003t0009 a0001c0006t0008 others(1): Show a0001c0003t0008 a0001c0003t0009 a0001c0006t0008 a0001c0007t0006	a0001c0003t0008g0014 a0001c0003t0009g0012 a0001c0006t0008g0013 others(1): Show a0001c0003t0008g0014 a0001c0003t0009g0012 a0001c0006t0008g0013 a0001c0007t0006g0034	4	394	0.0102	-6	c.10 others(17): Show c.1072_*1077delACAAAA	CGB8	ENSG00000213030.6	transcript	ENST00000448456.4	protein_coding		1060		chr19	TogoVar
CGNL1_chr15_57371505_57555717	57374538	TTGTGTG TTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(54): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01993.hp2 HG02040.hp1 HG02258.hp2 HG02293.hp1 HG02735.hp1 HG02738.hp1 HG03041.hp1 HG03225.hp2 HG03490.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18941.hp1 NA18952.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18980.hp1 NA18992.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19011.hp1 NA19060.hp1 NA19060.hp2 NA19079.hp2 NA19085.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0012 a0020 a0026	a0001c0001 a0001c0005 a0001c0011 others(13): Show a0001c0001 a0001c0005 a0001c0011 a0002c0002 a0002c0008 a0003c0003 a0003c0032 a0004c0004 a0004c0017 a0004c0025 a0007c0009 a0008c0010 a0009c0014 a0012c0019 a0020c0020 a0026c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0005t0001 a0001c0005t0002 a0001c0011t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 a0002c0008t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0024 a0003c0032t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0017t0001 a0004c0017t0002 a0004c0025t0026 a0007c0009t0002 a0007c0009t0003 a0008c0010t0005 a0008c0010t0028 a0009c0014t0006 a0012c0019t0006 a0020c0020t0003 a0026c0023t0006	a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0071 others(54): Show a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0232 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0002g0042 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0002g0105 a0001c0001t0002g0217 a0001c0001t0002g0244 a0001c0001t0004g0057 a0001c0001t0004g0063 a0001c0001t0004g0120 a0001c0001t0004g0254 a0001c0001t0004g0260 a0001c0001t0011g0277 a0001c0001t0011g0281 a0001c0005t0001g0222 a0001c0005t0002g0201 a0001c0005t0002g0215 a0001c0011t0002g0103 a0001c0011t0002g0110 a0002c0002t0002g0093 a0002c0002t0003g0195 a0002c0002t0018g0092 a0002c0008t0003g0019 a0002c0008t0003g0202 a0002c0008t0003g0220 a0003c0003t0001g0210 a0003c0003t0002g0207 a0003c0003t0004g0086 a0003c0003t0024g0209 a0003c0032t0002g0074 a0004c0004t0001g0280 a0004c0004t0002g0157 a0004c0004t0004g0077 a0004c0017t0001g0192 a0004c0017t0002g0278 a0004c0025t0026g0191 a0007c0009t0002g0089 a0007c0009t0003g0148 a0007c0009t0003g0168 a0007c0009t0003g0186 a0008c0010t0005g0140 a0008c0010t0028g0052 a0009c0014t0006g0050 a0012c0019t0006g0158 a0020c0020t0003g0253 a0026c0023t0006g0184	57	294	0.1939	-6	c.-20 others(17): Show c.-2044_-2039delTGTGTG	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding		1966		chr15	TogoVar
CGNL1_chr15_57371505_57555717	57378363	GTTTTTT GTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00733.hp1 others(44): Show HG00280.hp2 HG00621.hp2 HG00733.hp1 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG03017.hp2 HG03041.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18971.hp1 NA18974.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19011.hp1 NA19060.hp1 NA19060.hp2 NA19084.hp2 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0021	a0001c0001 a0001c0005 a0001c0011 others(12): Show a0001c0001 a0001c0005 a0001c0011 a0002c0002 a0002c0040 a0003c0003 a0003c0032 a0004c0004 a0005c0006 a0006c0007 a0007c0009 a0008c0010 a0009c0014 a0010c0013 a0021c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0005t0001 a0001c0005t0002 a0001c0011t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0034 a0002c0040t0003 a0003c0003t0002 a0003c0003t0004 a0003c0003t0015 a0003c0032t0002 a0004c0004t0001 a0004c0004t0004 a0005c0006t0003 a0006c0007t0005 a0007c0009t0002 a0007c0009t0003 a0008c0010t0028 a0009c0014t0006 a0010c0013t0023 a0021c0028t0006	a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0065 others(44): Show a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0132 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0004g0057 a0001c0001t0004g0063 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0091 a0001c0001t0004g0274 a0001c0001t0010g0054 a0001c0001t0010g0262 a0001c0001t0010g0275 a0001c0005t0001g0053 a0001c0005t0002g0062 a0001c0011t0002g0084 a0002c0002t0003g0068 a0002c0002t0003g0081 a0002c0002t0007g0055 a0002c0002t0007g0058 a0002c0002t0034g0090 a0002c0040t0003g0069 a0003c0003t0002g0064 a0003c0003t0004g0086 a0003c0003t0015g0072 a0003c0032t0002g0074 a0004c0004t0001g0061 a0004c0004t0001g0088 a0004c0004t0004g0077 a0005c0006t0003g0075 a0006c0007t0005g0056 a0007c0009t0002g0089 a0007c0009t0003g0076 a0008c0010t0028g0052 a0009c0014t0006g0050 a0010c0013t0023g0051 a0021c0028t0006g0066	47	294	0.1599	-6	c.-16 others(23): Show c.-16+1826_-16+1831delTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57409037	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02818.hp1 others(2): Show HG02258.hp2 HG02572.hp1 HG02818.hp1 HG02965.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0007	a0001c0001t0001g0188 a0001c0001t0002g0032 a0001c0001t0002g0033 others(2): Show a0001c0001t0001g0188 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0004g0120 a0002c0002t0007g0259	5	294	0.0170	-6	c.-15 others(25): Show c.-15-28917_-15-28912delCACACA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57437644	AAAAAAG AAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG02040.hp2 others(5): Show HG00280.hp2 HG00544.hp2 HG02040.hp2 HG02083.hp2 NA18946.hp1 NA18948.hp1 NA19002.hp2 NA19079.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0001 a0003c0003t0002 a0003c0003t0015 others(1): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0015 a0005c0006t0003	a0003c0003t0001g0144 a0003c0003t0001g0179 a0003c0003t0002g0064 others(5): Show a0003c0003t0001g0144 a0003c0003t0001g0179 a0003c0003t0002g0064 a0003c0003t0002g0150 a0003c0003t0002g0172 a0003c0003t0015g0072 a0003c0003t0015g0170 a0005c0006t0003g0075	8	294	0.0272	-6	c.-15 others(21): Show c.-15-340_-15-335delAAAAAG	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18			chr15	TogoVar
CGNL1_chr15_57371505_57555717	57447805	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp2 others(79): Show HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18964.hp1 NA18971.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19003.hp2 NA19068.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0010 a0012 a0013 a0017 a0021 a0025 a0026	a0001c0001 a0001c0011 a0002c0002 others(15): Show a0001c0001 a0001c0011 a0002c0002 a0002c0026 a0003c0003 a0004c0004 a0004c0017 a0004c0025 a0006c0007 a0007c0009 a0009c0014 a0010c0013 a0012c0019 a0013c0018 a0017c0031 a0021c0028 a0025c0036 a0026c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0025 a0001c0011t0002 a0002c0002t0003 a0002c0026t0018 a0003c0003t0001 a0003c0003t0016 a0003c0003t0027 a0004c0004t0001 a0004c0004t0002 a0004c0004t0030 a0004c0017t0001 a0004c0017t0002 a0004c0025t0026 a0006c0007t0005 a0006c0007t0009 a0007c0009t0002 a0007c0009t0039 a0009c0014t0006 a0010c0013t0006 a0010c0013t0023 a0012c0019t0006 a0013c0018t0006 a0017c0031t0004 a0021c0028t0006 a0025c0036t0002 a0026c0023t0006	a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0071 others(78): Show a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0002g0001 a0001c0001t0002g0042 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0113 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0182 a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0244 a0001c0001t0002g0267 a0001c0001t0004g0021 a0001c0001t0004g0063 a0001c0001t0004g0083 a0001c0001t0004g0155 a0001c0001t0004g0260 a0001c0001t0004g0274 a0001c0001t0019g0160 a0001c0001t0025g0228 a0001c0011t0002g0084 a0001c0011t0002g0103 a0001c0011t0002g0110 a0002c0002t0003g0041 a0002c0002t0003g0068 a0002c0002t0003g0081 a0002c0002t0003g0119 a0002c0002t0003g0195 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0241 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0270 a0002c0026t0018g0166 a0003c0003t0001g0178 a0003c0003t0016g0147 a0003c0003t0016g0198 a0003c0003t0027g0141 a0004c0004t0001g0088 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0002g0204 a0004c0004t0030g0136 a0004c0017t0001g0192 a0004c0017t0002g0278 a0004c0025t0026g0191 a0006c0007t0005g0098 a0006c0007t0009g0288 a0007c0009t0002g0143 a0007c0009t0039g0286 a0009c0014t0006g0096 a0010c0013t0006g0287 a0010c0013t0023g0051 a0012c0019t0006g0158 a0013c0018t0006g0025 a0017c0031t0004g0101 a0021c0028t0006g0066 a0025c0036t0002g0154 a0026c0023t0006g0184	82	294	0.2789	-6	c.180 others(25): Show c.1804-3660_1804-3655delGTGTGT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57473899	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01099.hp2 others(8): Show HG00735.hp2 HG00741.hp2 HG01099.hp2 HG01123.hp2 HG01361.hp1 HG01884.hp1 HG03017.hp2 HG03834.hp1 HG06807.hp2 NA19084.hp1 NA20129.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0004c0017 a0006c0007	a0001c0001t0001 a0001c0001t0021 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0021 a0003c0003t0001 a0004c0004t0001 a0004c0017t0001 a0006c0007t0005	a0001c0001t0001g0049 a0001c0001t0001g0080 a0001c0001t0001g0232 others(8): Show a0001c0001t0001g0049 a0001c0001t0001g0080 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0248 a0001c0001t0021g0116 a0003c0003t0001g0227 a0004c0004t0001g0115 a0004c0017t0001g0192 a0006c0007t0005g0027	11	294	0.0374	-6	c.240 others(27): Show c.2403+12028_2403+12033delTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57475492	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00642.hp2 others(31): Show HG00140.hp2 HG00621.hp1 HG00642.hp2 HG01192.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01993.hp1 HG02071.hp1 HG02080.hp1 HG02257.hp2 HG02280.hp2 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03239.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18941.hp1 NA18948.hp2 NA18952.hp2 NA18971.hp1 NA18980.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0012 a0018 a0026	a0001c0001 a0001c0005 a0002c0002 others(11): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0002c0040 a0003c0003 a0004c0004 a0004c0025 a0006c0007 a0007c0009 a0011c0012 a0012c0019 a0018c0034 a0026c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0005t0001 a0002c0002t0002 a0002c0002t0007 a0002c0008t0017 a0002c0040t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0016 a0004c0004t0001 a0004c0004t0002 a0004c0025t0026 a0006c0007t0009 a0007c0009t0003 a0011c0012t0020 a0012c0019t0006 a0018c0034t0004 a0026c0023t0006	a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0082 others(31): Show a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0189 a0001c0001t0001g0268 a0001c0001t0002g0070 a0001c0001t0002g0128 a0001c0001t0002g0249 a0001c0001t0025g0228 a0001c0005t0001g0245 a0002c0002t0002g0093 a0002c0002t0007g0259 a0002c0008t0017g0013 a0002c0040t0003g0069 a0003c0003t0001g0151 a0003c0003t0001g0210 a0003c0003t0002g0237 a0003c0003t0016g0147 a0003c0003t0016g0198 a0004c0004t0001g0011 a0004c0004t0001g0061 a0004c0004t0001g0280 a0004c0004t0002g0235 a0004c0004t0002g0283 a0004c0025t0026g0191 a0006c0007t0009g0122 a0007c0009t0003g0168 a0007c0009t0003g0186 a0011c0012t0020g0024 a0012c0019t0006g0158 a0018c0034t0004g0035 a0026c0023t0006g0184	34	294	0.1157	-6	c.240 others(27): Show c.2403+13639_2403+13644delGTGTGT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57529559	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(45): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00621.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01243.hp1 HG01261.hp1 HG01884.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02132.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03710.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18951.hp1 NA18971.hp2 NA18977.hp1 NA18992.hp1 NA18993.hp1 NA19068.hp1 NA19080.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0006 a0007 a0008 a0010 a0018 a0019	a0001c0001 a0002c0002 a0002c0008 others(9): Show a0001c0001 a0002c0002 a0002c0008 a0002c0026 a0002c0040 a0005c0006 a0006c0007 a0007c0009 a0008c0010 a0010c0013 a0018c0034 a0019c0030	a0001c0001t0001 a0002c0002t0003 a0002c0002t0018 others(12): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0018 a0002c0008t0003 a0002c0008t0017 a0002c0008t0041 a0002c0026t0018 a0002c0040t0003 a0005c0006t0003 a0006c0007t0005 a0007c0009t0003 a0008c0010t0005 a0010c0013t0006 a0018c0034t0004 a0019c0030t0005	a0001c0001t0001g0118 a0001c0001t0001g0126 a0002c0002t0003g0031 others(45): Show a0001c0001t0001g0118 a0001c0001t0001g0126 a0002c0002t0003g0031 a0002c0002t0003g0041 a0002c0002t0003g0081 a0002c0002t0003g0117 a0002c0002t0003g0119 a0002c0002t0003g0175 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0229 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0243 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0270 a0002c0002t0018g0092 a0002c0008t0003g0014 a0002c0008t0003g0015 a0002c0008t0003g0020 a0002c0008t0003g0202 a0002c0008t0003g0220 a0002c0008t0017g0013 a0002c0008t0041g0017 a0002c0026t0018g0166 a0002c0040t0003g0069 a0005c0006t0003g0075 a0005c0006t0003g0176 a0005c0006t0003g0236 a0006c0007t0005g0027 a0006c0007t0005g0056 a0006c0007t0005g0098 a0006c0007t0005g0125 a0006c0007t0005g0142 a0006c0007t0005g0164 a0006c0007t0005g0291 a0007c0009t0003g0076 a0007c0009t0003g0148 a0007c0009t0003g0186 a0008c0010t0005g0048 a0008c0010t0005g0094 a0008c0010t0005g0140 a0010c0013t0006g0287 a0018c0034t0004g0035 a0019c0030t0005g0293	48	294	0.1633	-6	c.320 others(23): Show c.3201+789_3201+794delACACAC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGN_chr1_151506387_151543692	151511435	TGCCCGA TGCCCGA	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG02258.hp2 others(4): Show HG01496.hp1 HG01891.hp1 HG02258.hp2 HG02717.hp1 HG03579.hp1 NA18967.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0001c0001t0024 a0003c0003t0008 a0001c0001t0008 a0001c0001t0024 a0003c0003t0008	a0001c0001t0008g0229 a0001c0001t0008g0243 a0001c0001t0024g0036 others(3): Show a0001c0001t0008g0229 a0001c0001t0008g0243 a0001c0001t0024g0036 a0003c0003t0008g0041 a0003c0003t0008g0179 a0003c0003t0008g0181	7	382	0.0183	-6	c.-52 others(13): Show c.-52_-47delGCCCGA	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	1/21	7037	INFO_REALIGN_3_PRIME	chr1	TogoVar
CGN_chr1_151506387_151543692	151543327	ATGTGTG ATGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01517.hp1 others(5): Show HG01074.hp2 HG01106.hp1 HG01517.hp1 HG02145.hp2 HG02572.hp1 HG02723.hp1 NA18522.hp1 NA19043.hp1	a0001 a0003 a0024 a0001 a0003 a0024	a0001c0001 a0003c0003 a0024c0022 a0001c0001 a0003c0003 a0024c0022	a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0003c0003t0002 a0024c0022t0001	a0001c0001t0002g0176 a0001c0001t0002g0244 a0001c0001t0013g0047 others(4): Show a0001c0001t0002g0176 a0001c0001t0002g0244 a0001c0001t0013g0047 a0001c0001t0014g0230 a0001c0001t0019g0185 a0003c0003t0002g0102 a0024c0022t0001g0004	8	382	0.0209	-6	c.59 others(17): Show c.5982_*5987delTGTGTG	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding		4636		chr1	TogoVar
CGREF1_chr2_27095594_27124128	27116871	TTCTCTC TTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp1 HG01243.hp1 others(11): Show HG00639.hp1 HG01123.hp1 HG01243.hp1 HG02809.hp1 HG02809.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03486.hp1 NA18522.hp2 NA18963.hp2 NA18978.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0183 others(11): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0312 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0319 a0001c0002t0002g0068 a0001c0004t0001g0313	14	352	0.0398	-6	c.-12 others(23): Show c.-12+1969_-12+1974delGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAC1_chr15_40948471_40961512	40951595	CAAAAAA CAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp2 HG02647.hp1 others(3): Show HG02630.hp1 HG02630.hp2 HG02647.hp1 HG03130.hp1 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0032	6	420	0.0143	-6	c.-19 others(17): Show c.-1988_-1983delAAAAAA	CHAC1	ENSG00000128965.13	transcript	ENST00000617768.5	protein_coding		1875		chr15	TogoVar
CHAC2_chr2_53762804_53780196	53772702	GTGTTTT GTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG01070.hp2 others(55): Show HG00408.hp1 HG00621.hp1 HG01070.hp2 HG01074.hp1 HG01109.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02148.hp1 HG02293.hp2 HG02572.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp1 NA18747.hp2 NA18941.hp2 NA18944.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18971.hp2 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19057.hp2 NA19065.hp1 NA19066.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089	58	426	0.1362	-6	c.171 others(21): Show c.171+768_171+773delGTTTTT	CHAC2	ENSG00000143942.5	transcript	ENST00000295304.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
CHADL_chr22_41224513_41245931	41242143	CATATAT CATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00597.hp1 others(59): Show HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02523.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18960.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18975.hp2 NA18980.hp2 NA18985.hp2 NA18993.hp2 NA18997.hp1 NA19012.hp2 NA19030.hp1 NA19063.hp2 NA19065.hp1 NA19077.hp1 NA19079.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0011 a0001c0016 others(2): Show a0001c0001 a0001c0011 a0001c0016 a0002c0002 a0005c0010	a0001c0001t0001 a0001c0011t0001 a0001c0016t0001 others(2): Show a0001c0001t0001 a0001c0011t0001 a0001c0016t0001 a0002c0002t0001 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0011t0001g0161 a0001c0016t0001g0191 a0002c0002t0001g0160 a0005c0010t0001g0069	62	414	0.1498	-6	c.-12 others(17): Show c.-1268_-1263delATATAT	CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding		1213		chr22	TogoVar
CHAD_chr17_50459496_50473880	50461927	GGTGTGT GGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG01169.hp2 others(7): Show HG01106.hp2 HG01167.hp1 HG01169.hp2 HG02615.hp2 HG02630.hp1 HG02895.hp1 HG03225.hp2 HG03540.hp1 HG06807.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0003c0003t0003 others(1): Show a0001c0001t0003 a0001c0001t0004 a0003c0003t0003 a0003c0003t0004	a0001c0001t0003g0039 a0001c0001t0004g0020 a0001c0001t0004g0022 others(2): Show a0001c0001t0003g0039 a0001c0001t0004g0020 a0001c0001t0004g0022 a0003c0003t0003g0014 a0003c0003t0004g0013	10	386	0.0259	-6	c.31 others(17): Show c.3121_*3126delACACAC	CHAD	ENSG00000136457.10	transcript	ENST00000508540.6	protein_coding		2568		chr17	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01891.hp2 others(19): Show HG00621.hp1 HG00735.hp2 HG01891.hp2 HG02109.hp1 HG02165.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02896.hp1 HG03139.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA18955.hp2 NA18975.hp1 NA18994.hp2 NA19043.hp1 NA19060.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0224 a0001c0001t0001g0239 others(18): Show a0001c0001t0001g0010 a0001c0001t0001g0224 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0002c0002t0002g0025 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0091	22	384	0.0573	-6	c.104 others(21): Show c.104-417_104-412delTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp1 others(92): Show HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp1 HG02257.hp2 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19076.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0002 a0009 a0010 others(1): Show a0002 a0009 a0010 a0011	a0002c0002 a0002c0023 a0009c0024 others(2): Show a0002c0002 a0002c0023 a0009c0024 a0010c0016 a0011c0017	a0002c0002t0002 a0002c0023t0002 a0009c0024t0002 others(2): Show a0002c0002t0002 a0002c0023t0002 a0009c0024t0002 a0010c0016t0002 a0011c0017t0002	a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0004 others(86): Show a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0031 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0023t0002g0366 a0009c0024t0002g0102 a0010c0016t0002g0075 a0011c0017t0002g0090	95	384	0.2474	-6	c.137 others(25): Show c.1378-1502_1378-1497delTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36381107	CTTCTTT CTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01243.hp1 others(12): Show HG01167.hp2 HG01169.hp2 HG01243.hp1 HG02055.hp2 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03453.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0028 a0004c0004t0003	a0001c0001t0001g0011 a0001c0001t0001g0069 a0001c0001t0003g0013 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0069 a0001c0001t0003g0013 a0001c0001t0005g0317 a0001c0001t0006g0295 a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0006g0307 a0001c0001t0006g0311 a0001c0001t0017g0302 a0001c0001t0028g0296 a0004c0004t0003g0028 a0004c0004t0003g0029 a0004c0004t0003g0030 a0004c0004t0003g0033	15	346	0.0434	-6	c.-44 others(17): Show c.-4421_-4416delTTCTTT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding		4284		chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389759	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 HG01361.hp1 others(5): Show HG01123.hp1 HG01255.hp1 HG01361.hp1 HG01952.hp2 HG02109.hp1 HG02132.hp1 HG02976.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 others(5): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0193 a0001c0001t0002g0221 a0001c0001t0014g0065 a0001c0001t0014g0066 a0001c0001t0014g0067	8	346	0.0231	-6	c.260 others(23): Show c.260-1755_260-1750delTGTGTG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAMP1_chr13_114309503_114332322	114312753	CAAAAAA CAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02109.hp1 others(7): Show HG01069.hp2 HG01071.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0148 others(5): Show a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153	10	414	0.0242	-6	c.-20 others(17): Show c.-2068_-2063delAAAAAA	CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding		1749		chr13	TogoVar
CHAMP1_chr13_114309503_114332322	114318881	TTTTTTA TTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG02109.hp1 others(10): Show HG01071.hp1 HG01109.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG03195.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0148 others(7): Show a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0153 a0001c0003t0001g0027 a0001c0003t0001g0054 a0001c0003t0001g0057	13	414	0.0314	-6	c.-17 others(25): Show c.-178-2228_-178-2223delTTTTTA	CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	1/2			chr13	TogoVar
CHAT_chr10_49609037_49672942	49639540	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(215): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0011 a0013 a0014 a0015	a0001c0001 a0001c0003 a0001c0005 others(21): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0001c0028 a0001c0035 a0002c0002 a0002c0008 a0002c0012 a0003c0004 a0003c0006 a0003c0007 a0005c0016 a0006c0014 a0007c0023 a0007c0024 a0010c0032 a0011c0033 a0013c0029 a0014c0037 a0015c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0001c0001t0036 a0001c0003t0003 a0001c0003t0006 a0001c0003t0008 a0001c0003t0010 a0001c0003t0033 a0001c0005t0005 a0001c0005t0009 a0001c0005t0030 a0001c0010t0003 a0001c0010t0008 a0001c0011t0003 a0001c0011t0022 a0001c0011t0024 a0001c0011t0029 a0001c0015t0005 a0001c0015t0009 a0001c0017t0003 a0001c0017t0004 a0001c0028t0005 a0001c0035t0003 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0012 a0002c0002t0017 a0002c0008t0008 a0002c0012t0009 a0003c0004t0001 a0003c0004t0004 a0003c0004t0013 a0003c0004t0027 a0003c0006t0005 a0003c0007t0003 a0003c0007t0006 a0005c0016t0009 a0006c0014t0004 a0006c0014t0007 a0007c0023t0007 a0007c0024t0009 a0010c0032t0025 a0011c0033t0009 a0013c0029t0009 a0014c0037t0035 a0015c0021t0002	a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0029 others(196): Show a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0254 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0333 a0001c0001t0001g0338 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0359 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0212 a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0273 a0001c0001t0002g0296 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0053 a0001c0001t0003g0065 a0001c0001t0003g0220 a0001c0001t0003g0277 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0004g0005 a0001c0001t0004g0028 a0001c0001t0004g0109 a0001c0001t0004g0261 a0001c0001t0004g0288 a0001c0001t0004g0313 a0001c0001t0004g0324 a0001c0001t0004g0329 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0343 a0001c0001t0004g0345 a0001c0001t0005g0267 a0001c0001t0006g0356 a0001c0001t0007g0047 a0001c0001t0007g0182 a0001c0001t0007g0210 a0001c0001t0007g0234 a0001c0001t0007g0236 a0001c0001t0007g0247 a0001c0001t0008g0001 a0001c0001t0008g0033 a0001c0001t0008g0180 a0001c0001t0008g0195 a0001c0001t0008g0201 a0001c0001t0008g0211 a0001c0001t0008g0266 a0001c0001t0012g0188 a0001c0001t0014g0279 a0001c0001t0014g0281 a0001c0001t0015g0020 a0001c0001t0016g0022 a0001c0001t0016g0219 a0001c0001t0018g0213 a0001c0001t0023g0284 a0001c0001t0036g0300 a0001c0003t0003g0291 a0001c0003t0003g0293 a0001c0003t0003g0314 a0001c0003t0006g0328 a0001c0003t0008g0015 a0001c0003t0010g0016 a0001c0003t0010g0170 a0001c0003t0010g0243 a0001c0003t0033g0042 a0001c0005t0005g0026 a0001c0005t0005g0063 a0001c0005t0005g0064 a0001c0005t0005g0307 a0001c0005t0005g0350 a0001c0005t0009g0186 a0001c0005t0009g0190 a0001c0005t0009g0193 a0001c0005t0009g0249 a0001c0005t0009g0250 a0001c0005t0009g0252 a0001c0005t0009g0265 a0001c0005t0009g0272 a0001c0005t0030g0341 a0001c0010t0003g0044 a0001c0010t0003g0045 a0001c0010t0003g0223 a0001c0010t0003g0257 a0001c0010t0003g0258 a0001c0010t0003g0259 a0001c0010t0003g0260 a0001c0010t0003g0262 a0001c0010t0008g0268 a0001c0011t0003g0214 a0001c0011t0022g0286 a0001c0011t0024g0283 a0001c0011t0029g0216 a0001c0015t0005g0312 a0001c0015t0009g0248 a0001c0017t0003g0256 a0001c0017t0004g0228 a0001c0028t0005g0370 a0001c0035t0003g0235 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0379 a0002c0002t0007g0070 a0002c0002t0007g0100 a0002c0002t0007g0372 a0002c0002t0007g0375 a0002c0002t0008g0361 a0002c0002t0008g0362 a0002c0002t0012g0076 a0002c0002t0017g0084 a0002c0008t0008g0365 a0002c0008t0008g0374 a0002c0012t0009g0077 a0003c0004t0001g0014 a0003c0004t0001g0046 a0003c0004t0001g0115 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0139 a0003c0004t0001g0147 a0003c0004t0001g0167 a0003c0004t0004g0126 a0003c0004t0013g0153 a0003c0004t0027g0113 a0003c0006t0005g0012 a0003c0006t0005g0116 a0003c0006t0005g0118 a0003c0006t0005g0131 a0003c0006t0005g0134 a0003c0006t0005g0141 a0003c0006t0005g0146 a0003c0006t0005g0148 a0003c0006t0005g0149 a0003c0006t0005g0155 a0003c0006t0005g0157 a0003c0006t0005g0161 a0003c0007t0003g0112 a0003c0007t0003g0125 a0003c0007t0003g0135 a0003c0007t0003g0145 a0003c0007t0003g0158 a0003c0007t0006g0136 a0003c0007t0006g0159 a0005c0016t0009g0271 a0006c0014t0004g0287 a0006c0014t0007g0178 a0007c0023t0007g0102 a0007c0024t0009g0101 a0010c0032t0025g0056 a0011c0033t0009g0177 a0013c0029t0009g0251 a0014c0037t0035g0301 a0015c0021t0002g0081	218	418	0.5215	-6	c.111 others(25): Show c.1112-6941_1112-6936delCACACA	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHAT_chr10_49609037_49672942	49648726	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02145.hp1 HG02257.hp2 others(11): Show HG01167.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02818.hp1 HG02896.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0017 others(1): Show a0001c0003 a0001c0010 a0001c0017 a0001c0028	a0001c0003t0003 a0001c0010t0003 a0001c0010t0008 others(3): Show a0001c0003t0003 a0001c0010t0003 a0001c0010t0008 a0001c0017t0003 a0001c0017t0004 a0001c0028t0005	a0001c0003t0003g0291 a0001c0003t0003g0293 a0001c0010t0003g0044 others(11): Show a0001c0003t0003g0291 a0001c0003t0003g0293 a0001c0010t0003g0044 a0001c0010t0003g0045 a0001c0010t0003g0223 a0001c0010t0003g0257 a0001c0010t0003g0258 a0001c0010t0003g0259 a0001c0010t0003g0260 a0001c0010t0003g0262 a0001c0010t0008g0268 a0001c0017t0003g0256 a0001c0017t0004g0228 a0001c0028t0005g0370	14	418	0.0335	-6	c.138 others(23): Show c.1382+146_1382+151delACACAC	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD3_chr7_132779870_133087090	132799007	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01109.hp2 others(9): Show HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01358.hp1 HG01516.hp2 HG01884.hp2 HG02647.hp2 HG02723.hp2 HG02922.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0004g0049	12	310	0.0387	-6	c.525 others(23): Show c.525-2436_525-2431delCACACA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132807606	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02027.hp1 HG02109.hp1 others(15): Show HG01496.hp2 HG02027.hp1 HG02109.hp1 HG02809.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03540.hp1 NA18522.hp2 NA18612.hp2 NA18943.hp2 NA18963.hp2 NA18973.hp1 NA19043.hp2 NA19079.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0034 others(15): Show a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0163 a0001c0001t0001g0204 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0252	18	310	0.0581	-6	c.525 others(25): Show c.525-11035_525-11030delATATAT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132860298	TAGATAG TAGATAG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01516.hp2 NA18944.hp1 HG01106.hp2 HG01516.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0131 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0131	3	310	0.0097	-6	c.454 others(25): Show c.454-21835_454-21830delCTATCT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	5/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132882461	CTATATA CTATATA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02080.hp1 HG02809.hp1 others(4): Show HG02056.hp2 HG02080.hp1 HG02809.hp1 HG03098.hp1 HG03139.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0116 a0001c0001t0001g0133 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0226	7	310	0.0226	-6	c.453 others(23): Show c.453+3195_453+3200delTATATA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	5/7			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)