Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CHIT1_chr1_203211079_203234673	203217736	TACTC TACTC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01891.hp1 HG02258.hp2 HG02280.hp2 others(7): Show HG01891.hp1 HG02258.hp2 HG02280.hp2 HG02970.hp1 HG02970.hp2 HG03453.hp2 NA19030.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0007 a0007	a0007c0007 a0007c0023 a0007c0007 a0007c0023	a0007c0007t0002 a0007c0023t0002 a0007c0007t0002 a0007c0023t0002	a0007c0007t0002g0021 a0007c0007t0002g0023 a0007c0007t0002g0073 others(2): Show a0007c0007t0002g0021 a0007c0007t0002g0023 a0007c0007t0002g0073 a0007c0007t0002g0092 a0007c0023t0002g0059	10	484	0.0207	-4	c.115 others(15): Show c.1155_1156+2delGAGT	p.Leu others(5): Show p.Leu387fs	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11		1155/1401	385/466		chr1	TogoVar
CHIT1_chr1_203211079_203234673	203225110	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG03225.hp2 HG02622.hp1 HG03225.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0082 a0006c0013t0002g0144 a0006c0013t0002g0082 a0006c0013t0002g0144	2	484	0.0041	0	c.258 others(5): Show c.258-6T>C		CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	3/10					chr1	TogoVar
CHIT1_chr1_203211079_203234673	203225876	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0083 a0003c0003t0001g0083	1	484	0.0021	0	c.56- others(4): Show c.56-6G>A		CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	2/10					chr1	TogoVar
CHIT1_chr1_203211079_203234673	203225878	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0156 a0003c0003t0001g0156	1	484	0.0021	0	c.56- others(4): Show c.56-8C>T		CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	2/10					chr1	TogoVar
CHKB_chr22_50573963_50587849	50578965	G G	C C	splice_region_variant splice_region_variant	LOW	HG00438.hp2 HG00544.hp1 HG00597.hp2 others(106): Show HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02300.hp2 HG02486.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0004c0005t0002	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0024 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0039 a0001c0001t0008g0022 a0004c0005t0002g0023	109	416	0.2620	0	c.21 others(4): Show c.216C>G		CHKB	ENSG00000100288.20	transcript	ENST00000406938.3	protein_coding	11/11					chr22	TogoVar
CHKB_chr22_50573963_50587849	50579261	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18952.hp2 NA19067.hp1 NA18952.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	2	416	0.0048	0	c.111 others(6): Show c.1114-6C>T		CHKB	ENSG00000100288.20	transcript	ENST00000406938.3	protein_coding	10/10					chr22	TogoVar
CHKB_chr22_50573963_50587849	50580278	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	416	0.0024	0	c.737 others(5): Show c.737-7C>T		CHKB	ENSG00000100288.20	transcript	ENST00000406938.3	protein_coding	6/10					chr22	TogoVar
CHKB_chr22_50573963_50587849	50581745	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	416	0.0024	0	c.447 others(5): Show c.447+4C>T		CHKB	ENSG00000100288.20	transcript	ENST00000406938.3	protein_coding	3/10					chr22	TogoVar
CHL1_chr3_191763_414417	197069	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0001	1	290	0.0035	0	c.-17 others(6): Show c.-175+6T>A		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27					chr3	TogoVar
CHL1_chr3_191763_414417	325956	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	290	0.0035	0	c.92- others(4): Show c.92-3T>A		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	3/27					chr3	TogoVar
CHL1_chr3_191763_414417	401619	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01952.hp1 HG02109.hp2 HG02257.hp1 others(18): Show HG01952.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0006 a0001c0001t0013 a0001c0001t0029 others(10): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0029 a0002c0002t0004 a0002c0002t0006 a0003c0003t0004 a0003c0003t0005 a0003c0003t0008 a0003c0003t0046 a0003c0003t0058 a0004c0004t0004 a0004c0004t0006 a0004c0004t0008	a0001c0001t0006g0097 a0001c0001t0013g0241 a0001c0001t0029g0091 others(18): Show a0001c0001t0006g0097 a0001c0001t0013g0241 a0001c0001t0029g0091 a0002c0002t0004g0008 a0002c0002t0004g0010 a0002c0002t0004g0290 a0002c0002t0006g0231 a0003c0003t0004g0009 a0003c0003t0004g0223 a0003c0003t0004g0281 a0003c0003t0004g0284 a0003c0003t0004g0285 a0003c0003t0005g0006 a0003c0003t0008g0076 a0003c0003t0046g0283 a0003c0003t0058g0208 a0004c0004t0004g0212 a0004c0004t0006g0088 a0004c0004t0008g0235 a0004c0004t0008g0236 a0004c0004t0008g0237	21	290	0.0724	0	c.338 others(6): Show c.3386-7T>C		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	26/27					chr3	TogoVar
CHL1_chr3_191763_414417	401704	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG02273.hp2 HG02293.hp2 HG00741.hp1 HG02273.hp2 HG02293.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0001c0001t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0157 a0002c0002t0002g0121 a0002c0002t0003g0256 a0001c0001t0001g0157 a0002c0002t0002g0121 a0002c0002t0003g0256	3	290	0.0103	0	c.345 others(6): Show c.3458+6C>T		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	27/27					chr3	TogoVar
CHMP1A_chr16_89639435_89662708	89646722	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02717.hp2 HG03195.hp2 others(4): Show HG02280.hp2 HG02717.hp2 HG03195.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0029 a0001c0001t0007g0159 a0001c0001t0007g0161 others(4): Show a0001c0001t0007g0029 a0001c0001t0007g0159 a0001c0001t0007g0161 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0009g0165 a0001c0001t0009g0166	7	392	0.0179	0	c.382 others(5): Show c.382-8G>T		CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	5/6					chr16	TogoVar
CHMP4A_chr14_24204615_24218488	24209933	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02895.hp1 HG02896.hp1 NA18522.hp2 HG02895.hp1 HG02896.hp1 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0022	3	418	0.0072	0	c.613 others(3): Show c.613C>T	p.Pro others(6): Show p.Pro205Ser	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding	6/6	662/980	613/669	205/222		chr14	TogoVar
CHMP4C_chr8_81727448_81764515	81753241	TGTGA TGTGA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00741.hp2 HG01074.hp2 others(10): Show HG00323.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01433.hp2 HG02698.hp2 HG02965.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0006 others(1): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0006 a0002c0002t0013	a0001c0001t0002g0244 a0002c0002t0001g0024 a0002c0002t0001g0218 others(7): Show a0001c0001t0002g0244 a0002c0002t0001g0024 a0002c0002t0001g0218 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0235 a0002c0002t0006g0054 a0002c0002t0006g0220 a0002c0002t0013g0191 a0002c0002t0013g0206	13	408	0.0319	-4	c.368 others(15): Show c.368+5_368+8delGTGA		CHMP4C	ENSG00000164695.5	transcript	ENST00000297265.5	protein_coding	2/4				INFO_REALIGN_3_PRIME	chr8	TogoVar
CHMP7_chr8_23238637_23266999	23256460	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00621.hp1 HG00621.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0070 a0007c0009t0001g0070	1	438	0.0023	0	c.658 others(3): Show c.658A>G	p.Ile others(6): Show p.Ile220Val	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding	5/11	1306/3410	658/1362	220/453		chr8	TogoVar
CHM_chrX_85856180_86052558	85879068	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	245	0.0041	-1	c.151 others(7): Show c.1511-6delT		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	12/14					chrX	TogoVar
CHM_chrX_85856180_86052558	85901193	AAAG AAAG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0245 a0001c0001t0018g0245	1	245	0.0041	-3	c.124 others(16): Show c.1245-8_1245-6delCTT		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14					chrX	TogoVar
CHN1_chr2_174793809_175010381	174824521	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02109.hp1 HG02486.hp2 others(4): Show HG01891.hp2 HG02109.hp1 HG02486.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(4): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276	7	276	0.0254	1	c.628 others(6): Show c.628-4dupT		CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	7/12					chr2	TogoVar
CHN2_chr7_29189775_29519328	29398493	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00558.hp2 HG00597.hp1 others(29): Show HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG01167.hp1 HG01257.hp2 HG01884.hp1 HG02074.hp1 HG02129.hp1 HG02257.hp1 HG02273.hp2 HG02451.hp2 HG02622.hp1 HG02818.hp2 HG02896.hp2 HG03017.hp2 HG03139.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 NA18948.hp2 NA18970.hp2 NA18982.hp1 NA18986.hp1 NA19005.hp1 NA19060.hp2 NA19063.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0002t0014 a0002c0003t0004 a0002c0004t0001 a0002c0004t0005 a0002c0004t0007	a0001c0001t0001g0029 a0001c0001t0001g0120 a0001c0001t0001g0126 others(29): Show a0001c0001t0001g0029 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0224 a0001c0001t0003g0014 a0001c0001t0003g0057 a0001c0001t0003g0111 a0001c0001t0003g0204 a0001c0001t0005g0018 a0001c0001t0005g0028 a0001c0001t0005g0133 a0001c0001t0006g0145 a0001c0001t0008g0139 a0001c0001t0009g0091 a0001c0001t0009g0158 a0001c0001t0009g0232 a0001c0002t0001g0063 a0001c0002t0001g0085 a0001c0002t0002g0027 a0001c0002t0002g0041 a0001c0002t0002g0105 a0001c0002t0004g0199 a0001c0002t0010g0155 a0001c0002t0010g0220 a0001c0002t0014g0102 a0002c0003t0004g0124 a0002c0004t0001g0038 a0002c0004t0001g0059 a0002c0004t0005g0202 a0002c0004t0007g0084 a0002c0004t0007g0094 a0002c0004t0007g0157	32	232	0.1379	0	c.290 others(5): Show c.290+7C>T		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	5/12					chr7	TogoVar
CHN2_chr7_29189775_29519328	29400536	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp1 NA18970.hp2 HG02129.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0004 a0001c0001t0003 a0002c0003t0004	a0001c0001t0003g0111 a0002c0003t0004g0124 a0001c0001t0003g0111 a0002c0003t0004g0124	2	232	0.0086	0	c.291 others(5): Show c.291-7C>T		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	5/12					chr7	TogoVar
CHN2_chr7_29189775_29519328	29504721	G G	GTC GTC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG00741.hp2 HG01069.hp1 others(37): Show HG00609.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03516.hp1 NA18612.hp2 NA18972.hp2 NA18984.hp1 NA19079.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0014 a0001c0002t0025 a0001c0005t0001 a0001c0006t0022	a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 others(37): Show a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0003g0097 a0001c0001t0003g0200 a0001c0001t0009g0043 a0001c0001t0011g0046 a0001c0001t0011g0164 a0001c0001t0012g0055 a0001c0001t0012g0056 a0001c0001t0023g0206 a0001c0001t0028g0050 a0001c0002t0001g0085 a0001c0002t0001g0134 a0001c0002t0002g0030 a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0105 a0001c0002t0002g0163 a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0208 a0001c0002t0002g0215 a0001c0002t0005g0173 a0001c0002t0005g0218 a0001c0002t0010g0155 a0001c0002t0010g0167 a0001c0002t0010g0220 a0001c0002t0014g0102 a0001c0002t0025g0024 a0001c0005t0001g0051 a0001c0006t0022g0119	40	232	0.1724	2	c.914 others(13): Show c.914-7_914-6dupCT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	9/12				INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18256492	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG00673.hp2 HG01069.hp2 others(56): Show HG00639.hp1 HG00673.hp2 HG01069.hp2 HG01243.hp1 HG01975.hp2 HG02055.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03927.hp1 HG04184.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18952.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18977.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19076.hp1 NA19079.hp2 NA19083.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0024 a0001c0002t0008	a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0035 others(34): Show a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0167 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0227 a0001c0001t0001g0271 a0001c0001t0001g0280 a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0046 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0003g0257 a0001c0001t0004g0012 a0001c0001t0004g0044 a0001c0001t0007g0250 a0001c0001t0010g0254 a0001c0001t0010g0258 a0001c0001t0010g0259 a0001c0001t0011g0263 a0001c0001t0011g0264 a0001c0001t0015g0249 a0001c0001t0024g0262 a0001c0002t0008g0014	59	402	0.1468	1	c.80- others(5): Show c.80-4dupT		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5				INFO_REALIGN_3_PRIME	chr21	TogoVar
CHORDC1_chr11_90195429_90228049	90206279	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG03041.hp2 HG03516.hp1 others(1): Show HG01081.hp2 HG03041.hp2 HG03516.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0123 a0002c0002t0001g0127 a0002c0002t0001g0045 a0002c0002t0001g0123 a0002c0002t0001g0127	4	412	0.0097	0	c.493 others(5): Show c.493-7T>G		CHORDC1	ENSG00000110172.12	transcript	ENST00000320585.11	protein_coding	6/10					chr11	TogoVar
CHORDC1_chr11_90195429_90228049	90206280	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(252): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0021 others(124): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0004g0003 a0001c0001t0004g0015 a0001c0001t0004g0034 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0060 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0005g0014 a0001c0001t0005g0047 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0006g0035 a0001c0001t0006g0038 a0001c0001t0006g0070 a0001c0001t0006g0089 a0001c0001t0006g0181 a0001c0001t0007g0012 a0001c0001t0007g0185 a0001c0001t0008g0043 a0001c0001t0008g0061 a0001c0001t0008g0105 a0001c0001t0008g0109 a0001c0001t0008g0117 a0001c0001t0010g0055 a0001c0001t0010g0177 a0001c0001t0010g0178 a0001c0001t0010g0179 a0001c0001t0010g0180 a0001c0001t0012g0057 a0001c0001t0012g0058 a0001c0001t0012g0059 a0001c0001t0020g0090 a0001c0001t0021g0171 a0001c0001t0022g0182	255	412	0.6189	0	c.493 others(5): Show c.493-8C>T		CHORDC1	ENSG00000110172.12	transcript	ENST00000320585.11	protein_coding	6/10					chr11	TogoVar
CHP2_chr16_23750026_23763935	23755657	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	392	0.0026	0	c.68- others(4): Show c.68-4G>T		CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding	1/6					chr16	TogoVar
CHRDL2_chr11_74691429_74736426	74697297	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0155 a0002c0014t0001g0155	1	392	0.0026	0	c.112 others(4): Show c.1121G>T	p.Gly others(6): Show p.Gly374Val	CHRDL2	ENSG00000054938.17	transcript	ENST00000376332.8	protein_coding	10/11	1659/1908	1121/1290	374/429		chr11	TogoVar
CHRDL2_chr11_74691429_74736426	74704480	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0131 a0001c0003t0001g0131	1	392	0.0026	0	c.751 others(5): Show c.751+6G>C		CHRDL2	ENSG00000054938.17	transcript	ENST00000376332.8	protein_coding	7/10					chr11	TogoVar
CHRDL2_chr11_74691429_74736426	74704481	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0131 a0001c0003t0001g0131	1	392	0.0026	0	c.751 others(5): Show c.751+5G>A		CHRDL2	ENSG00000054938.17	transcript	ENST00000376332.8	protein_coding	7/10					chr11	TogoVar
CHRD_chr3_184375054_184394829	184383641	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03942.hp2 HG03942.hp2	a0013 a0013	a0013c0035 a0013c0035	a0013c0035t0001 a0013c0035t0001	a0013c0035t0001g0151 a0013c0035t0001g0151	1	428	0.0023	0	c.143 others(4): Show c.1439C>T	p.Thr others(6): Show p.Thr480Met	CHRD	ENSG00000090539.16	transcript	ENST00000204604.6	protein_coding	12/23	1704/3540	1439/2868	480/955		chr3	TogoVar
CHRD_chr3_184375054_184394829	184385018	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00639.hp2 HG00639.hp2	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0001 a0016c0024t0001	a0016c0024t0001g0137 a0016c0024t0001g0137	1	428	0.0023	0	c.159 others(4): Show c.1598C>T	p.Thr others(6): Show p.Thr533Met	CHRD	ENSG00000090539.16	transcript	ENST00000204604.6	protein_coding	14/23	1863/3540	1598/2868	533/955		chr3	TogoVar
CHRD_chr3_184375054_184394829	184388995	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00597.hp1 NA18979.hp1 HG00597.hp1 NA18979.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0012 a0006c0016t0001g0143 a0006c0016t0001g0012 a0006c0016t0001g0143	2	428	0.0047	0	c.281 others(4): Show c.2812C>T	p.Pro others(6): Show p.Pro938Ser	CHRD	ENSG00000090539.16	transcript	ENST00000204604.6	protein_coding	22/23	3077/3540	2812/2868	938/955		chr3	TogoVar
CHRFAM7A_chr15_30355566_30398540	30372978	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0004 a0007c0025t0004	a0007c0025t0004g0060 a0007c0025t0004g0060	1	133	0.0075	0	c.328 others(3): Show c.328G>A	p.Gly others(6): Show p.Gly110Arg	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	6/10	773/3411	328/1239	110/412		chr15	TogoVar
CHRNA1_chr2_174742592_174769472	174754215	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02280.hp2 HG03098.hp1 others(4): Show HG01884.hp2 HG02280.hp2 HG03098.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0060 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0060 a0001c0001t0001g0090 a0001c0001t0001g0091	7	370	0.0189	0	c.540 others(5): Show c.540+4G>C		CHRNA1	ENSG00000138435.16	transcript	ENST00000348749.9	protein_coding	5/8					chr2	TogoVar
CHRNA1_chr2_174742592_174769472	174759379	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02074.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18987.hp1 NA18991.hp1 NA18992.hp2 NA18997.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 a0001c0001t0001 a0001c0002t0001 a0001c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0101 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0002t0001g0071 a0001c0013t0001g0163	102	370	0.2757	-1	c.190 others(6): Show c.190-5delT		CHRNA1	ENSG00000138435.16	transcript	ENST00000348749.9	protein_coding	2/8					chr2	TogoVar
CHRNA1_chr2_174742592_174769472	174764348	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	370	0.0027	0	c.43+ others(4): Show c.43+4A>G		CHRNA1	ENSG00000138435.16	transcript	ENST00000348749.9	protein_coding	1/8					chr2	TogoVar
CHRNA3_chr15_78590309_78625996	78617016	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00597.hp2 HG01243.hp1 others(32): Show HG00408.hp2 HG00597.hp2 HG01243.hp1 HG01346.hp1 HG01358.hp2 HG02055.hp2 HG02083.hp1 HG02258.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG03041.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 NA18522.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18977.hp1 NA18983.hp1 NA18989.hp2 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19076.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0006 a0001c0004t0009 others(1): Show a0001c0004t0005 a0001c0004t0006 a0001c0004t0009 a0001c0004t0013	a0001c0004t0005g0016 a0001c0004t0005g0220 a0001c0004t0005g0224 others(25): Show a0001c0004t0005g0016 a0001c0004t0005g0220 a0001c0004t0005g0224 a0001c0004t0005g0235 a0001c0004t0005g0236 a0001c0004t0005g0237 a0001c0004t0005g0238 a0001c0004t0005g0239 a0001c0004t0005g0240 a0001c0004t0005g0241 a0001c0004t0006g0015 a0001c0004t0006g0049 a0001c0004t0006g0050 a0001c0004t0006g0051 a0001c0004t0006g0219 a0001c0004t0006g0225 a0001c0004t0006g0226 a0001c0004t0006g0227 a0001c0004t0006g0228 a0001c0004t0006g0229 a0001c0004t0006g0230 a0001c0004t0006g0231 a0001c0004t0006g0242 a0001c0004t0009g0223 a0001c0004t0009g0233 a0001c0004t0009g0234 a0001c0004t0013g0222 a0001c0004t0013g0232	35	410	0.0854	0	c.377 others(5): Show c.377+8G>C		CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	4/5					chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78617138	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0016 a0002c0009 a0003c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0008 a0001c0004t0009 a0001c0004t0013 a0001c0005t0004 a0001c0005t0005 a0001c0005t0018 a0001c0005t0021 a0001c0008t0004 a0001c0016t0004 a0002c0009t0001 a0002c0009t0005 a0002c0009t0019 a0003c0007t0004 a0003c0007t0010 a0004c0011t0004	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(174): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0002g0159 a0001c0001t0003g0148 a0001c0001t0011g0210 a0001c0001t0011g0211 a0001c0001t0012g0112 a0001c0001t0012g0113 a0001c0001t0020g0107 a0001c0001t0022g0171 a0001c0004t0001g0104 a0001c0004t0001g0116 a0001c0004t0002g0134 a0001c0004t0005g0016 a0001c0004t0005g0220 a0001c0004t0005g0224 a0001c0004t0005g0235 a0001c0004t0005g0236 a0001c0004t0005g0237 a0001c0004t0005g0238 a0001c0004t0005g0239 a0001c0004t0005g0240 a0001c0004t0005g0241 a0001c0004t0006g0015 a0001c0004t0006g0049 a0001c0004t0006g0050 a0001c0004t0006g0051 a0001c0004t0006g0219 a0001c0004t0006g0225 a0001c0004t0006g0226 a0001c0004t0006g0227 a0001c0004t0006g0228 a0001c0004t0006g0229 a0001c0004t0006g0230 a0001c0004t0006g0231 a0001c0004t0006g0242 a0001c0004t0008g0007 a0001c0004t0008g0033 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0009g0223 a0001c0004t0009g0233 a0001c0004t0009g0234 a0001c0004t0013g0222 a0001c0004t0013g0232 a0001c0005t0004g0002 a0001c0005t0004g0011 a0001c0005t0004g0035 a0001c0005t0004g0118 a0001c0005t0004g0120 a0001c0005t0004g0121 a0001c0005t0004g0122 a0001c0005t0004g0123 a0001c0005t0004g0124 a0001c0005t0004g0125 a0001c0005t0004g0127 a0001c0005t0004g0128 a0001c0005t0004g0129 a0001c0005t0004g0130 a0001c0005t0004g0135 a0001c0005t0005g0109 a0001c0005t0005g0126 a0001c0005t0005g0131 a0001c0005t0005g0132 a0001c0005t0018g0119 a0001c0005t0021g0108 a0001c0008t0004g0034 a0001c0008t0004g0114 a0001c0008t0004g0115 a0001c0016t0004g0117 a0002c0009t0001g0067 a0002c0009t0005g0071 a0002c0009t0019g0100 a0003c0007t0004g0020 a0003c0007t0004g0060 a0003c0007t0004g0062 a0003c0007t0010g0059 a0003c0007t0010g0061 a0004c0011t0004g0101 a0004c0011t0004g0102	249	410	0.6073	0	c.268 others(5): Show c.268-5C>T		CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	3/5					chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78618919	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(15): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0015 a0001c0016 a0002c0002 a0002c0009 a0002c0014 a0003c0007 a0003c0010 a0004c0011 a0005c0013 a0006c0012 a0007c0017 a0008c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0023 a0001c0003t0025 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0008 a0001c0004t0009 a0001c0004t0013 a0001c0005t0004 a0001c0005t0005 a0001c0005t0018 a0001c0005t0021 a0001c0006t0002 a0001c0006t0005 a0001c0006t0007 a0001c0006t0014 a0001c0008t0004 a0001c0015t0017 a0001c0016t0004 a0002c0002t0002 a0002c0002t0005 a0002c0002t0015 a0002c0002t0024 a0002c0009t0001 a0002c0009t0005 a0002c0009t0019 a0002c0014t0002 a0003c0007t0004 a0003c0007t0010 a0003c0010t0002 a0004c0011t0004 a0005c0013t0016 a0006c0012t0002 a0007c0017t0003 a0008c0018t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(291): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0002g0159 a0001c0001t0003g0148 a0001c0001t0011g0210 a0001c0001t0011g0211 a0001c0001t0012g0112 a0001c0001t0012g0113 a0001c0001t0020g0107 a0001c0001t0022g0171 a0001c0003t0001g0259 a0001c0003t0001g0267 a0001c0003t0001g0290 a0001c0003t0002g0289 a0001c0003t0003g0017 a0001c0003t0003g0052 a0001c0003t0003g0243 a0001c0003t0003g0244 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0249 a0001c0003t0003g0250 a0001c0003t0003g0251 a0001c0003t0003g0252 a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0258 a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0268 a0001c0003t0003g0269 a0001c0003t0003g0270 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0280 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0286 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0291 a0001c0003t0003g0292 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0295 a0001c0003t0023g0248 a0001c0003t0025g0297 a0001c0004t0001g0104 a0001c0004t0001g0116 a0001c0004t0002g0134 a0001c0004t0005g0016 a0001c0004t0005g0220 a0001c0004t0005g0224 a0001c0004t0005g0235 a0001c0004t0005g0236 a0001c0004t0005g0237 a0001c0004t0005g0238 a0001c0004t0005g0239 a0001c0004t0005g0240 a0001c0004t0005g0241 a0001c0004t0006g0015 a0001c0004t0006g0049 a0001c0004t0006g0050 a0001c0004t0006g0051 a0001c0004t0006g0219 a0001c0004t0006g0225 a0001c0004t0006g0226 a0001c0004t0006g0227 a0001c0004t0006g0228 a0001c0004t0006g0229 a0001c0004t0006g0230 a0001c0004t0006g0231 a0001c0004t0006g0242 a0001c0004t0008g0007 a0001c0004t0008g0033 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0009g0223 a0001c0004t0009g0233 a0001c0004t0009g0234 a0001c0004t0013g0222 a0001c0004t0013g0232 a0001c0005t0004g0002 a0001c0005t0004g0011 a0001c0005t0004g0035 a0001c0005t0004g0118 a0001c0005t0004g0120 a0001c0005t0004g0121 a0001c0005t0004g0122 a0001c0005t0004g0123 a0001c0005t0004g0124 a0001c0005t0004g0125 a0001c0005t0004g0127 a0001c0005t0004g0128 a0001c0005t0004g0129 a0001c0005t0004g0130 a0001c0005t0004g0135 a0001c0005t0005g0109 a0001c0005t0005g0126 a0001c0005t0005g0131 a0001c0005t0005g0132 a0001c0005t0018g0119 a0001c0005t0021g0108 a0001c0006t0002g0207 a0001c0006t0002g0208 a0001c0006t0005g0105 a0001c0006t0005g0106 a0001c0006t0007g0006 a0001c0006t0007g0018 a0001c0006t0007g0053 a0001c0006t0007g0054 a0001c0006t0007g0055 a0001c0006t0007g0056 a0001c0006t0007g0058 a0001c0006t0014g0057 a0001c0008t0004g0034 a0001c0008t0004g0114 a0001c0008t0004g0115 a0001c0015t0017g0133 a0001c0016t0004g0117 a0002c0002t0002g0001 a0002c0002t0002g0010 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0005g0030 a0002c0002t0015g0084 a0002c0002t0024g0296 a0002c0009t0001g0067 a0002c0009t0005g0071 a0002c0009t0019g0100 a0002c0014t0002g0078 a0003c0007t0004g0020 a0003c0007t0004g0060 a0003c0007t0004g0062 a0003c0007t0010g0059 a0003c0007t0010g0061 a0003c0010t0002g0019 a0004c0011t0004g0101 a0004c0011t0004g0102 a0005c0013t0016g0093 a0006c0012t0002g0065 a0007c0017t0003g0256 a0008c0018t0003g0257	406	410	0.9902	0	c.83- others(4): Show c.83-4A>G		CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	1/5					chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78588308	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	382	0.0026	0	c.304 others(5): Show c.304-6T>C		CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding	3/5					chr15	TogoVar
CHRNA6_chr8_42747620_42773786	42752619	G G	GT GT	splice_region_variant splice_region_variant	LOW	HG02004.hp2 HG03239.hp2 HG03831.hp2 others(5): Show HG02004.hp2 HG03239.hp2 HG03831.hp2 NA18906.hp1 NA18974.hp1 NA19002.hp1 NA19084.hp1 NA19084.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0005 a0001c0001t0016 a0002c0002t0005 others(1): Show a0001c0001t0005 a0001c0001t0016 a0002c0002t0005 a0004c0005t0018	a0001c0001t0005g0002 a0001c0001t0005g0016 a0001c0001t0005g0026 others(5): Show a0001c0001t0005g0002 a0001c0001t0005g0016 a0001c0001t0005g0026 a0001c0001t0005g0055 a0001c0001t0005g0135 a0001c0001t0016g0053 a0002c0002t0005g0087 a0004c0005t0018g0144	8	350	0.0229	1	c.55 others(5): Show c.559dupA		CHRNA6	ENSG00000147434.9	transcript	ENST00000276410.7	protein_coding	6/6					chr8	TogoVar
CHRNA6_chr8_42747620_42773786	42752619	GT GT	G G	splice_region_variant splice_region_variant	LOW	HG00738.hp2 HG01081.hp1 HG01167.hp2 others(6): Show HG00738.hp2 HG01081.hp1 HG01167.hp2 HG02735.hp1 HG02896.hp1 HG03017.hp1 NA18969.hp2 NA19089.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0007 a0001c0001t0007g0018 a0001c0001t0007g0051 others(3): Show a0001c0001t0007g0007 a0001c0001t0007g0018 a0001c0001t0007g0051 a0001c0001t0007g0098 a0001c0001t0008g0001 a0001c0001t0008g0002	9	350	0.0257	-1	c.55 others(5): Show c.559delA		CHRNA6	ENSG00000147434.9	transcript	ENST00000276410.7	protein_coding	6/6					chr8	TogoVar
CHRNA7_chr15_32025515_32178018	32101283	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00642.hp1 HG00741.hp1 others(73): Show HG00323.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01255.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG02056.hp1 HG02071.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 NA18522.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18998.hp2 NA19009.hp1 NA19012.hp2 NA19062.hp1 NA19074.hp1 NA19085.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0002c0013 a0003c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(35): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0036 a0001c0001t0042 a0001c0001t0055 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0003t0001 a0001c0003t0014 a0001c0004t0003 a0001c0004t0008 a0001c0004t0010 a0001c0004t0017 a0001c0004t0022 a0001c0004t0037 a0001c0004t0039 a0001c0004t0041 a0001c0004t0052 a0001c0005t0007 a0001c0006t0002 a0001c0006t0006 a0001c0006t0034 a0001c0007t0019 a0001c0010t0009 a0001c0011t0026 a0001c0012t0001 a0001c0014t0001 a0002c0013t0002 a0003c0015t0024	a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0145 others(72): Show a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0145 a0001c0001t0001g0222 a0001c0001t0001g0233 a0001c0001t0003g0232 a0001c0001t0008g0038 a0001c0001t0012g0293 a0001c0001t0013g0120 a0001c0001t0015g0191 a0001c0001t0015g0216 a0001c0001t0015g0303 a0001c0001t0016g0086 a0001c0001t0016g0201 a0001c0001t0023g0163 a0001c0001t0029g0213 a0001c0001t0030g0040 a0001c0001t0030g0257 a0001c0001t0036g0250 a0001c0001t0042g0280 a0001c0001t0055g0079 a0001c0002t0002g0028 a0001c0002t0002g0091 a0001c0002t0002g0096 a0001c0002t0002g0217 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0256 a0001c0002t0002g0300 a0001c0002t0005g0220 a0001c0002t0005g0251 a0001c0002t0006g0010 a0001c0003t0001g0042 a0001c0003t0001g0046 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0098 a0001c0003t0001g0164 a0001c0003t0001g0166 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0249 a0001c0003t0001g0290 a0001c0003t0014g0032 a0001c0003t0014g0100 a0001c0003t0014g0301 a0001c0004t0003g0090 a0001c0004t0003g0116 a0001c0004t0003g0255 a0001c0004t0003g0277 a0001c0004t0008g0194 a0001c0004t0008g0210 a0001c0004t0010g0003 a0001c0004t0010g0188 a0001c0004t0017g0182 a0001c0004t0022g0097 a0001c0004t0022g0254 a0001c0004t0037g0193 a0001c0004t0039g0180 a0001c0004t0041g0037 a0001c0004t0052g0077 a0001c0005t0007g0066 a0001c0006t0002g0165 a0001c0006t0002g0287 a0001c0006t0006g0278 a0001c0006t0034g0247 a0001c0007t0019g0187 a0001c0010t0009g0190 a0001c0011t0026g0209 a0001c0012t0001g0128 a0001c0012t0001g0137 a0001c0014t0001g0292 a0002c0013t0002g0045 a0002c0013t0002g0214 a0003c0015t0024g0208	76	307	0.2476	1	c.196 others(6): Show c.196-5dupT		CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9				INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32101283	C C	CTT CTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(111): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0001t0045 a0001c0001t0047 a0001c0001t0053 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0002t0033 a0001c0002t0038 a0001c0002t0049 a0001c0002t0050 a0001c0003t0001 a0001c0003t0014 a0001c0003t0021 a0001c0003t0035 a0001c0004t0003 a0001c0004t0005 a0001c0004t0017 a0001c0004t0022 a0001c0006t0002 a0001c0009t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(110): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0001t0001g0152 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0248 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0003g0001 a0001c0001t0003g0025 a0001c0001t0003g0089 a0001c0001t0003g0131 a0001c0001t0010g0153 a0001c0001t0012g0011 a0001c0001t0012g0241 a0001c0001t0012g0291 a0001c0001t0012g0295 a0001c0001t0014g0105 a0001c0001t0015g0124 a0001c0001t0020g0004 a0001c0001t0023g0162 a0001c0001t0023g0229 a0001c0001t0027g0044 a0001c0001t0027g0252 a0001c0001t0045g0294 a0001c0001t0047g0106 a0001c0001t0053g0081 a0001c0001t0054g0076 a0001c0002t0001g0020 a0001c0002t0002g0023 a0001c0002t0002g0026 a0001c0002t0002g0093 a0001c0002t0002g0099 a0001c0002t0002g0115 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0143 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0154 a0001c0002t0002g0179 a0001c0002t0002g0185 a0001c0002t0002g0218 a0001c0002t0002g0236 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0260 a0001c0002t0002g0275 a0001c0002t0002g0282 a0001c0002t0005g0013 a0001c0002t0005g0150 a0001c0002t0005g0159 a0001c0002t0005g0171 a0001c0002t0005g0192 a0001c0002t0006g0016 a0001c0002t0006g0027 a0001c0002t0006g0126 a0001c0002t0006g0142 a0001c0002t0006g0158 a0001c0002t0006g0269 a0001c0002t0028g0225 a0001c0002t0028g0264 a0001c0002t0033g0296 a0001c0002t0038g0103 a0001c0002t0049g0219 a0001c0002t0050g0075 a0001c0003t0001g0007 a0001c0003t0001g0012 a0001c0003t0001g0033 a0001c0003t0001g0107 a0001c0003t0001g0139 a0001c0003t0001g0160 a0001c0003t0001g0244 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0267 a0001c0003t0001g0289 a0001c0003t0014g0102 a0001c0003t0021g0253 a0001c0003t0021g0274 a0001c0003t0035g0024 a0001c0004t0003g0005 a0001c0004t0003g0125 a0001c0004t0003g0133 a0001c0004t0003g0246 a0001c0004t0003g0273 a0001c0004t0005g0008 a0001c0004t0017g0043 a0001c0004t0022g0094 a0001c0006t0002g0149 a0001c0006t0002g0168 a0001c0006t0002g0186 a0001c0009t0001g0127 a0001c0009t0001g0234 a0001c0009t0001g0235	114	307	0.3713	2	c.196 others(13): Show c.196-6_196-5dupTT		CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9				INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNB1_chr17_7440061_7462710	7447656	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00642.hp1 HG00642.hp2 others(78): Show HG00280.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp1 HG01243.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03486.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp1 NA18522.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18995.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0077 a0001c0001t0001g0291 others(58): Show a0001c0001t0001g0014 a0001c0001t0001g0077 a0001c0001t0001g0291 a0001c0001t0002g0209 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0208 a0001c0001t0003g0211 a0001c0001t0003g0235 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256	81	368	0.2201	0	c.610 others(5): Show c.610+6T>C		CHRNB1	ENSG00000170175.11	transcript	ENST00000306071.7	protein_coding	6/10					chr17	TogoVar
CHRND_chr2_232521160_232541664	232534216	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG02809.hp2 HG02818.hp1 others(1): Show HG01243.hp1 HG02809.hp2 HG02818.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0093 a0001c0001t0002g0033 a0001c0001t0002g0093	4	438	0.0091	0	c.125 others(6): Show c.1253-8G>A		CHRND	ENSG00000135902.10	transcript	ENST00000258385.8	protein_coding	10/11					chr2	TogoVar
CHRND_chr2_232521160_232541664	232534349	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	438	0.0023	0	c.137 others(6): Show c.1371+7G>T		CHRND	ENSG00000135902.10	transcript	ENST00000258385.8	protein_coding	11/11					chr2	TogoVar
CHRNE_chr17_4892771_4908098	4899112	C C	CG CG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 NA18972.hp2 NA18979.hp2 others(2): Show HG02572.hp1 NA18972.hp2 NA18979.hp2 NA19089.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0027 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0027 a0001c0003t0004 a0001c0003t0064	a0001c0001t0001g0064 a0001c0001t0007g0065 a0001c0001t0027g0058 others(2): Show a0001c0001t0001g0064 a0001c0001t0007g0065 a0001c0001t0027g0058 a0001c0003t0004g0108 a0001c0003t0064g0109	5	446	0.0112	1	c.122 others(7): Show c.1220-6dupC		CHRNE	ENSG00000108556.10	transcript	ENST00000649488.2	protein_coding	10/11					chr17	TogoVar
CHRNE_chr17_4892771_4908098	4899390	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(58): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02735.hp1 HG03239.hp2 HG03540.hp1 HG03710.hp1 NA18612.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18954.hp1 NA18956.hp2 NA18961.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18997.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19054.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 others(5): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0035 a0001c0009t0057 a0001c0009t0060	a0001c0001t0005g0004 a0001c0001t0005g0070 a0001c0001t0008g0006 others(9): Show a0001c0001t0005g0004 a0001c0001t0005g0070 a0001c0001t0008g0006 a0001c0001t0008g0071 a0001c0001t0013g0012 a0001c0001t0015g0024 a0001c0001t0015g0101 a0001c0001t0018g0023 a0001c0001t0018g0100 a0001c0001t0035g0039 a0001c0009t0057g0085 a0001c0009t0060g0086	61	446	0.1368	0	c.103 others(6): Show c.1033-6C>T		CHRNE	ENSG00000108556.10	transcript	ENST00000649488.2	protein_coding	9/11					chr17	TogoVar
CHRNE_chr17_4892771_4908098	4902094	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp2 HG00621.hp1 HG01069.hp1 others(29): Show HG00609.hp2 HG00621.hp1 HG01069.hp1 HG01074.hp2 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG02148.hp1 HG02572.hp1 HG03453.hp2 NA18944.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA19002.hp2 NA19005.hp2 NA19030.hp1 NA19054.hp2 NA19057.hp1 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0010 a0001c0001 a0001c0003 a0003c0010	a0001c0001t0062 a0001c0003t0004 a0001c0003t0020 others(4): Show a0001c0001t0062 a0001c0003t0004 a0001c0003t0020 a0001c0003t0038 a0001c0003t0063 a0001c0003t0064 a0003c0010t0020	a0001c0001t0062g0110 a0001c0003t0004g0005 a0001c0003t0004g0044 others(9): Show a0001c0001t0062g0110 a0001c0003t0004g0005 a0001c0003t0004g0044 a0001c0003t0004g0105 a0001c0003t0004g0106 a0001c0003t0004g0108 a0001c0003t0020g0045 a0001c0003t0020g0107 a0001c0003t0038g0043 a0001c0003t0063g0111 a0001c0003t0064g0109 a0003c0010t0020g0046	32	446	0.0718	0	c.345 others(5): Show c.345-7C>T		CHRNE	ENSG00000108556.10	transcript	ENST00000649488.2	protein_coding	4/11					chr17	TogoVar

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