Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CSAG1_chrX_152722484_152738721	152732441	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	318	0.0031	0	c.16+ others(4): Show c.16+4A>G		CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3					chrX	TogoVar
CSAG2_chrX_152703261_152714273	152708643	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(153): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19076.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0003c0009 others(4): Show a0001c0001 a0002c0002 a0003c0009 a0004c0004 a0005c0007 a0006c0005 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0002c0002t0001 a0003c0009t0008 a0004c0004t0001 a0005c0007t0001 a0006c0005t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0002g0006 a0001c0001t0003g0007 a0001c0001t0004g0008 a0001c0001t0005g0010 a0001c0001t0005g0013 a0001c0001t0006g0011 a0001c0001t0007g0012 a0001c0001t0009g0018 a0001c0001t0010g0019 a0001c0001t0011g0024 a0001c0001t0012g0025 a0002c0002t0001g0003 a0003c0009t0008g0023 a0004c0004t0001g0014 a0005c0007t0001g0017 a0006c0005t0001g0015 a0007c0008t0001g0022	156	211	0.7393	0	c.315 others(5): Show c.315-3T>C		CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding	1/1					chrX	TogoVar
CSAG2_chrX_152703261_152714273	152708793	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp1 HG03195.hp2 NA18906.hp2 others(1): Show HG02976.hp1 HG03195.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	4	211	0.0190	0	c.314 others(5): Show c.314+6C>T		CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding	1/1					chrX	TogoVar
CSDC2_chr22_41556010_41581666	41574727	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0063 a0001c0001t0017g0063	1	288	0.0035	0	c.300 others(5): Show c.300-6C>T		CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	3/3					chr22	TogoVar
CSDE1_chr1_114711916_114762984	114718221	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp2 HG01358.hp1 HG01175.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0096 a0001c0001t0011g0044 a0001c0001t0002g0096 a0001c0001t0011g0044	2	328	0.0061	0	c.235 others(6): Show c.2350-5C>A		CSDE1	ENSG00000009307.17	transcript	ENST00000358528.9	protein_coding	19/19					chr1	TogoVar
CSDE1_chr1_114711916_114762984	114726204	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	328	0.0031	0	c.164 others(6): Show c.1640+7C>T		CSDE1	ENSG00000009307.17	transcript	ENST00000358528.9	protein_coding	14/19					chr1	TogoVar
CSE1L_chr20_49041312_49101949	49096351	T T	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0083 a0001c0007t0002g0083	1	386	0.0026	0	c.282 others(4): Show c.2829T>A	p.Val others(6): Show p.Val943Val	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	25/25	2952/3550	2829/2916	943/971		chr20	TogoVar
CSE1L_chr20_49041312_49101949	49096948	A A	G G	splice_region_variant splice_region_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0285 a0001c0001t0006g0285	1	386	0.0026	0	c.51 others(4): Show c.510A>G		CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	25/25					chr20	TogoVar
CSF1R_chr5_150048295_150091554	150059695	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp2 HG02055.hp2 HG02451.hp2 others(14): Show HG01175.hp2 HG02055.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0022 others(2): Show a0001c0001 a0001c0004 a0001c0022 a0002c0003 a0003c0007	a0001c0001t0005 a0001c0004t0005 a0001c0022t0001 others(2): Show a0001c0001t0005 a0001c0004t0005 a0001c0022t0001 a0002c0003t0005 a0003c0007t0006	a0001c0001t0005g0080 a0001c0001t0005g0085 a0001c0001t0005g0286 others(14): Show a0001c0001t0005g0080 a0001c0001t0005g0085 a0001c0001t0005g0286 a0001c0001t0005g0291 a0001c0001t0005g0313 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0355 a0001c0001t0005g0359 a0001c0001t0005g0368 a0001c0001t0005g0371 a0001c0001t0005g0380 a0001c0004t0005g0150 a0001c0022t0001g0255 a0002c0003t0005g0230 a0002c0003t0005g0327 a0003c0007t0006g0388	17	406	0.0419	0	c.213 others(6): Show c.2132+5C>T		CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	14/20					chr5	TogoVar
CSF1R_chr5_150048295_150091554	150068208	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00544.hp2 HG00673.hp1 others(76): Show HG00544.hp1 HG00544.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18945.hp2 NA18948.hp1 NA18952.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18985.hp2 NA19001.hp1 NA19005.hp1 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19064.hp2 NA19068.hp2 NA19081.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0003c0007 a0003c0015 a0006c0011 a0008c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0006t0003 a0001c0006t0004 a0003c0007t0001 a0003c0007t0003 a0003c0007t0006 a0003c0007t0013 a0003c0015t0003 a0006c0011t0006 a0008c0016t0004	a0001c0001t0001g0068 a0001c0001t0001g0186 a0001c0001t0004g0115 others(76): Show a0001c0001t0001g0068 a0001c0001t0001g0186 a0001c0001t0004g0115 a0001c0001t0006g0082 a0001c0001t0009g0229 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0233 a0001c0001t0009g0234 a0001c0001t0009g0372 a0001c0001t0009g0373 a0001c0001t0009g0374 a0001c0001t0012g0334 a0001c0002t0001g0172 a0001c0002t0003g0157 a0001c0004t0001g0264 a0001c0004t0003g0038 a0001c0004t0003g0110 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0120 a0001c0004t0003g0126 a0001c0004t0003g0129 a0001c0004t0003g0130 a0001c0004t0003g0144 a0001c0004t0003g0145 a0001c0004t0003g0148 a0001c0004t0003g0192 a0001c0004t0003g0206 a0001c0004t0003g0207 a0001c0004t0004g0106 a0001c0004t0004g0182 a0001c0005t0001g0070 a0001c0005t0001g0119 a0001c0005t0001g0209 a0001c0005t0001g0250 a0001c0005t0001g0265 a0001c0005t0001g0280 a0001c0005t0001g0281 a0001c0005t0001g0309 a0001c0005t0001g0322 a0001c0005t0001g0341 a0001c0005t0002g0122 a0001c0005t0003g0332 a0001c0005t0003g0335 a0001c0005t0004g0173 a0001c0005t0004g0214 a0001c0005t0004g0221 a0001c0005t0004g0244 a0001c0005t0004g0247 a0001c0005t0004g0251 a0001c0005t0004g0252 a0001c0005t0004g0268 a0001c0005t0004g0273 a0001c0005t0004g0282 a0001c0005t0004g0300 a0001c0005t0004g0318 a0001c0005t0004g0350 a0001c0005t0004g0351 a0001c0005t0004g0354 a0001c0005t0004g0358 a0001c0006t0003g0235 a0001c0006t0004g0081 a0003c0007t0001g0383 a0003c0007t0003g0253 a0003c0007t0003g0295 a0003c0007t0003g0385 a0003c0007t0003g0390 a0003c0007t0006g0388 a0003c0007t0013g0223 a0003c0007t0013g0384 a0003c0007t0013g0389 a0003c0015t0003g0086 a0003c0015t0003g0306 a0006c0011t0006g0015 a0006c0011t0006g0228 a0006c0011t0006g0330 a0008c0016t0004g0294 a0008c0016t0004g0303	79	406	0.1946	0	c.162 others(6): Show c.1626+7C>T		CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	10/20					chr5	TogoVar
CSF1R_chr5_150048295_150091554	150070569	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(78): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01346.hp1 HG01358.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03098.hp2 HG03471.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp2 HG04228.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18995.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19055.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0002c0008 a0002c0013 others(4): Show a0002c0003 a0002c0008 a0002c0013 a0002c0017 a0002c0019 a0002c0024 a0004c0009	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(16): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0002c0003t0021 a0002c0003t0024 a0002c0008t0001 a0002c0008t0011 a0002c0013t0001 a0002c0013t0003 a0002c0013t0004 a0002c0017t0004 a0002c0017t0006 a0002c0019t0001 a0002c0024t0001 a0004c0009t0004 a0004c0009t0008	a0002c0003t0001g0005 a0002c0003t0001g0034 a0002c0003t0001g0035 others(76): Show a0002c0003t0001g0005 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0067 a0002c0003t0001g0075 a0002c0003t0001g0089 a0002c0003t0001g0165 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0001g0240 a0002c0003t0001g0249 a0002c0003t0001g0254 a0002c0003t0001g0258 a0002c0003t0001g0263 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0272 a0002c0003t0001g0289 a0002c0003t0001g0297 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0307 a0002c0003t0001g0311 a0002c0003t0001g0331 a0002c0003t0001g0339 a0002c0003t0001g0340 a0002c0003t0001g0344 a0002c0003t0001g0345 a0002c0003t0001g0346 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0353 a0002c0003t0001g0357 a0002c0003t0001g0361 a0002c0003t0001g0362 a0002c0003t0001g0363 a0002c0003t0001g0375 a0002c0003t0002g0079 a0002c0003t0002g0274 a0002c0003t0002g0308 a0002c0003t0003g0160 a0002c0003t0003g0262 a0002c0003t0003g0320 a0002c0003t0003g0337 a0002c0003t0004g0312 a0002c0003t0004g0317 a0002c0003t0005g0230 a0002c0003t0005g0327 a0002c0003t0007g0257 a0002c0003t0007g0356 a0002c0003t0021g0323 a0002c0003t0024g0069 a0002c0008t0001g0011 a0002c0008t0001g0030 a0002c0008t0001g0236 a0002c0008t0001g0239 a0002c0008t0001g0365 a0002c0008t0001g0381 a0002c0008t0011g0278 a0002c0013t0001g0017 a0002c0013t0003g0290 a0002c0013t0004g0259 a0002c0017t0004g0176 a0002c0017t0006g0225 a0002c0019t0001g0336 a0002c0024t0001g0114 a0004c0009t0004g0188 a0004c0009t0008g0137 a0004c0009t0008g0202 a0004c0009t0008g0203 a0004c0009t0008g0215 a0004c0009t0008g0296 a0004c0009t0008g0301 a0004c0009t0008g0352	81	406	0.1995	0	c.108 others(4): Show c.1085A>G	p.His others(6): Show p.His362Arg	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	7/21	1212/3820	1085/2919	362/972		chr5	TogoVar
CSF1R_chr5_150048295_150091554	150070579	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG02965.hp2 HG03195.hp1 HG00735.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0234 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0234	3	406	0.0074	0	c.108 others(6): Show c.1083-8T>C		CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	6/20					chr5	TogoVar
CSF1_chr1_109905849_109935992	109924188	C C	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00408.hp1 HG00423.hp2 others(175): Show HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18956.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0014	a0001c0011 a0002c0002 a0002c0022 others(6): Show a0001c0011 a0002c0002 a0002c0022 a0003c0003 a0004c0007 a0004c0021 a0005c0008 a0008c0025 a0014c0015	a0001c0011t0002 a0002c0002t0001 a0002c0002t0002 others(20): Show a0001c0011t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0015 a0002c0002t0022 a0002c0022t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0008 a0003c0003t0016 a0003c0003t0017 a0003c0003t0021 a0004c0007t0001 a0004c0007t0002 a0004c0007t0004 a0004c0021t0002 a0005c0008t0002 a0005c0008t0004 a0008c0025t0002 a0014c0015t0002	a0001c0011t0002g0018 a0001c0011t0002g0087 a0002c0002t0001g0002 others(77): Show a0001c0011t0002g0018 a0001c0011t0002g0087 a0002c0002t0001g0002 a0002c0002t0001g0015 a0002c0002t0001g0052 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0126 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0011 a0002c0002t0002g0019 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0040 a0002c0002t0002g0048 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0101 a0002c0002t0002g0133 a0002c0002t0002g0156 a0002c0002t0004g0141 a0002c0002t0005g0002 a0002c0002t0005g0027 a0002c0002t0005g0055 a0002c0002t0015g0039 a0002c0002t0022g0093 a0002c0022t0002g0002 a0003c0003t0001g0112 a0003c0003t0002g0003 a0003c0003t0002g0011 a0003c0003t0002g0013 a0003c0003t0002g0020 a0003c0003t0002g0031 a0003c0003t0002g0049 a0003c0003t0002g0051 a0003c0003t0002g0054 a0003c0003t0002g0056 a0003c0003t0002g0107 a0003c0003t0002g0140 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0004g0114 a0003c0003t0008g0031 a0003c0003t0016g0013 a0003c0003t0017g0157 a0003c0003t0021g0003 a0004c0007t0001g0015 a0004c0007t0002g0002 a0004c0007t0002g0005 a0004c0007t0002g0011 a0004c0007t0002g0027 a0004c0007t0002g0086 a0004c0007t0002g0095 a0004c0007t0002g0096 a0004c0007t0002g0102 a0004c0007t0002g0103 a0004c0007t0004g0128 a0004c0021t0002g0018 a0005c0008t0002g0003 a0005c0008t0002g0013 a0005c0008t0002g0050 a0005c0008t0002g0051 a0005c0008t0002g0099 a0005c0008t0004g0152 a0008c0025t0002g0148 a0014c0015t0002g0039	178	434	0.4101	0	c.156 others(4): Show c.1567C>A	p.Arg others(6): Show p.Arg523Arg	CSF1	ENSG00000184371.14	transcript	ENST00000329608.11	protein_coding	6/9	1742/3994	1567/1665	523/554		chr1	TogoVar
CSF1_chr1_109905849_109935992	109925209	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	434	0.0023	0	c.13 others(5): Show c.13+7T>A		CSF1	ENSG00000184371.14	transcript	ENST00000329608.11	protein_coding	8/8					chr1	TogoVar
CSF2RA_chrX_1263814_1314935	1282778	G G	GA GA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19087.hp2 NA19087.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0004 a0010c0012t0004	a0010c0012t0004g0089 a0010c0012t0004g0089	1	159	0.0063	1	c.75_ others(6): Show c.75_76insA	p.Asp others(4): Show p.Asp26fs	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/13	232/1815	76/1203	26/400		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1282781	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19063.hp1 NA19063.hp1	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0004 a0006c0022t0004	a0006c0022t0004g0073 a0006c0022t0004g0073	1	159	0.0063	-1	c.76+ others(5): Show c.76+4delA		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12				INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1285923	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01169.hp1 HG01169.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0003 a0009c0013t0003	a0009c0013t0003g0153 a0009c0013t0003g0153	1	159	0.0063	-1	c.219 others(6): Show c.219+4delA		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	4/12					chrX	TogoVar
CSF2RB_chr22_36908628_36945439	36935686	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0005 a0013c0023t0005	a0013c0023t0005g0161 a0013c0023t0005g0161	1	360	0.0028	0	c.146 others(4): Show c.1463A>T	p.Gln others(6): Show p.Gln488Leu	CSF2RB	ENSG00000100368.15	transcript	ENST00000403662.8	protein_coding	12/14	1685/4853	1463/2694	488/897		chr22	TogoVar
CSF2RB_chr22_36908628_36945439	36937372	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp2 NA18954.hp1 NA19003.hp1 others(3): Show NA18939.hp2 NA18954.hp1 NA19003.hp1 NA19054.hp2 NA19070.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0001g0086	6	360	0.0167	0	c.156 others(6): Show c.1569-5C>T		CSF2RB	ENSG00000100368.15	transcript	ENST00000403662.8	protein_coding	13/13					chr22	TogoVar
CSF3_chr17_40010440_40022813	40016637	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	434	0.0023	0	c.450 others(5): Show c.450+6C>G		CSF3	ENSG00000108342.13	transcript	ENST00000394149.8	protein_coding	4/4					chr17	TogoVar
CSF3_chr17_40010440_40022813	40016787	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	434	0.0023	0	c.451 others(5): Show c.451-8C>G		CSF3	ENSG00000108342.13	transcript	ENST00000394149.8	protein_coding	4/4					chr17	TogoVar
CSF3_chr17_40010440_40022813	40016790	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	434	0.0023	0	c.451 others(5): Show c.451-5C>G		CSF3	ENSG00000108342.13	transcript	ENST00000394149.8	protein_coding	4/4					chr17	TogoVar
CSGALNACT1_chr8_19399161_19762277	19757186	C C	A A	splice_region_variant splice_region_variant	LOW	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0238 a0001c0002t0048g0238	1	238	0.0042	0	c.-39 others(4): Show c.-392G>T		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/9					chr8	TogoVar
CSGALNACT2_chr10_43133445_43190302	43155816	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	398	0.0025	0	c.661 others(5): Show c.661+6G>A		CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	2/7					chr10	TogoVar
CSGALNACT2_chr10_43133445_43190302	43175930	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.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 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0002c0002 a0003c0004 a0004c0005 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0003t0008 a0001c0006t0005 a0001c0007t0004 a0001c0009t0001 a0002c0002t0001 a0002c0002t0014 a0002c0002t0015 a0003c0004t0001 a0004c0005t0001 a0005c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(227): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0171 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0319 a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0144 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0004g0009 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0082 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0005g0013 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0006g0007 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0162 a0001c0001t0006g0164 a0001c0001t0006g0166 a0001c0001t0007g0004 a0001c0001t0007g0015 a0001c0001t0007g0061 a0001c0001t0007g0064 a0001c0001t0007g0068 a0001c0001t0009g0087 a0001c0001t0009g0095 a0001c0001t0009g0097 a0001c0001t0009g0098 a0001c0001t0009g0099 a0001c0001t0009g0271 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0010g0266 a0001c0001t0010g0267 a0001c0001t0011g0035 a0001c0001t0011g0275 a0001c0001t0011g0276 a0001c0001t0012g0320 a0001c0001t0013g0274 a0001c0001t0016g0110 a0001c0001t0017g0048 a0001c0001t0019g0279 a0001c0001t0020g0188 a0001c0003t0008g0280 a0001c0003t0008g0281 a0001c0003t0008g0282 a0001c0003t0008g0283 a0001c0003t0008g0284 a0001c0003t0008g0285 a0001c0003t0008g0286 a0001c0006t0005g0034 a0001c0007t0004g0299 a0001c0009t0001g0290 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0033 a0002c0002t0001g0046 a0002c0002t0001g0094 a0002c0002t0001g0103 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0014g0152 a0002c0002t0015g0160 a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0181 a0004c0005t0001g0260 a0004c0005t0001g0261 a0004c0005t0001g0262 a0005c0008t0001g0142	291	398	0.7312	-1	c.125 others(7): Show c.1255-8delT		CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	6/7				INFO_REALIGN_3_PRIME	chr10	TogoVar
CSGALNACT2_chr10_43133445_43190302	43175930	GTT GTT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02280.hp1 HG02717.hp1 others(4): Show HG01891.hp2 HG02280.hp1 HG02717.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0031 a0001c0001t0001g0130 a0001c0001t0001g0168 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0130 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0003g0115	7	398	0.0176	-2	c.125 others(15): Show c.1255-9_1255-8delTT		CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	6/7				INFO_REALIGN_3_PRIME	chr10	TogoVar
CSGALNACT2_chr10_43133445_43190302	43175951	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01099.hp2 HG02895.hp2 HG02897.hp2 others(2): Show HG01099.hp2 HG02895.hp2 HG02897.hp2 NA18522.hp2 NA20129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0181 a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0181	5	398	0.0126	0	c.125 others(4): Show c.1255G>A	p.Val others(6): Show p.Val419Ile	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	7/8	1631/3765	1255/1629	419/542		chr10	TogoVar
CSH1_chr17_63889918_63901574	63894918	T T	C C	splice_region_variant splice_region_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	428	0.0023	0	c.10 others(4): Show c.104A>G		CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding	5/5					chr17	TogoVar
CSH1_chr17_63889918_63901574	63894919	G G	A A	splice_region_variant splice_region_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	428	0.0023	0	c.10 others(4): Show c.103C>T		CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding	5/5					chr17	TogoVar
CSH2_chr17_63867016_63878677	63872017	T T	C C	splice_region_variant splice_region_variant	LOW	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	410	0.0024	0	c.10 others(4): Show c.109A>G		CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding	5/5					chr17	TogoVar
CSH2_chr17_63867016_63878677	63872018	G G	A A	splice_region_variant splice_region_variant	LOW	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	410	0.0024	0	c.10 others(4): Show c.108C>T		CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding	5/5					chr17	TogoVar
CSH2_chr17_63867016_63878677	63872579	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0018 a0005c0009t0001g0018	1	410	0.0024	0	c.454 others(3): Show c.454G>C	p.Gly others(6): Show p.Gly152Arg	CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding	4/5	517/827	454/654	152/217		chr17	TogoVar
CSKMT_chr11_62660312_62673108	62665330	C C	A A	splice_region_variant splice_region_variant	LOW	HG00544.hp2 NA18944.hp2 NA18955.hp2 others(14): Show HG00544.hp2 NA18944.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18973.hp2 NA18983.hp1 NA18990.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19068.hp1 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	17	362	0.0470	0	c.-23 others(4): Show c.-236C>A		CSKMT	ENSG00000214756.8	transcript	ENST00000532971.2	protein_coding	1/3					chr11	TogoVar
CSK_chr15_74777080_74808197	74782719	AGGTGAGT others(40): Show AGGTGAGTGCCTGGCCGTCCCGGAGTGTCCCCTGGAGGGAAGAGGGTG	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0052 a0001c0001t0009g0052	1	394	0.0025	-47	c.-66 others(59): Show c.-66+1_-66+47delGTGAGTGCCTGGCCGTCCCGGAGTGTCCCCTGG AGGGAAGAGGGTGG		CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12				INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74801007	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01884.hp1 HG02145.hp2 others(15): Show HG01109.hp2 HG01884.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp2 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0001c0008 a0003c0007 a0001c0004 a0001c0008 a0003c0007	a0001c0004t0004 a0001c0004t0007 a0001c0008t0004 others(1): Show a0001c0004t0004 a0001c0004t0007 a0001c0008t0004 a0003c0007t0004	a0001c0004t0004g0018 a0001c0004t0004g0019 a0001c0004t0004g0149 others(9): Show a0001c0004t0004g0018 a0001c0004t0004g0019 a0001c0004t0004g0149 a0001c0004t0004g0150 a0001c0004t0004g0152 a0001c0004t0004g0153 a0001c0004t0007g0148 a0001c0004t0007g0151 a0001c0008t0004g0137 a0003c0007t0004g0140 a0003c0007t0004g0141 a0003c0007t0004g0142	18	394	0.0457	0	c.723 others(5): Show c.723-5C>T		CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	8/12					chr15	TogoVar
CSMD1_chr8_2930361_4999914	2938742	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18971.hp2 NA18971.hp2	a0023 a0023	a0023c0095 a0023c0095	a0023c0095t0002 a0023c0095t0002	a0023c0095t0002g0124 a0023c0095t0002g0124	1	126	0.0079	0	c.105 others(5): Show c.10538C>G	p.Thr others(7): Show p.Thr3513Arg	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	70/70	11036/14417	10538/10695	3513/3564		chr8	TogoVar
CSMD1_chr8_2930361_4999914	2942602	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03710.hp2 HG03710.hp2	a0022 a0022	a0022c0013 a0022c0013	a0022c0013t0007 a0022c0013t0007	a0022c0013t0007g0112 a0022c0013t0007g0112	1	126	0.0079	0	c.104 others(5): Show c.10405C>G	p.Pro others(7): Show p.Pro3469Ala	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	69/70	10903/14417	10405/10695	3469/3564		chr8	TogoVar
CSMD1_chr8_2930361_4999914	2963223	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00423.hp1 HG00438.hp1 HG01074.hp2 others(63): Show HG00423.hp1 HG00438.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18971.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0018 a0020 a0022 a0023 a0024 a0025 a0027 a0030 a0031 a0037	a0001c0001 a0001c0002 a0001c0003 others(55): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0017 a0001c0019 a0001c0021 a0001c0026 a0001c0039 a0001c0040 a0001c0046 a0001c0050 a0001c0061 a0001c0068 a0001c0080 a0001c0085 a0001c0090 a0001c0093 a0001c0094 a0001c0105 a0001c0109 a0001c0115 a0002c0022 a0002c0035 a0002c0053 a0002c0054 a0002c0074 a0002c0075 a0002c0078 a0002c0091 a0003c0034 a0003c0057 a0004c0056 a0004c0086 a0004c0099 a0005c0065 a0005c0107 a0006c0083 a0006c0116 a0007c0088 a0008c0008 a0008c0067 a0009c0113 a0010c0112 a0011c0110 a0012c0104 a0014c0010 a0018c0044 a0020c0024 a0022c0013 a0023c0095 a0024c0038 a0025c0096 a0027c0023 a0030c0052 a0031c0069 a0037c0101	a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 others(62): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 a0001c0002t0061 a0001c0003t0008 a0001c0003t0013 a0001c0003t0019 a0001c0004t0020 a0001c0004t0063 a0001c0006t0002 a0001c0006t0060 a0001c0017t0005 a0001c0019t0078 a0001c0021t0005 a0001c0026t0006 a0001c0039t0066 a0001c0040t0019 a0001c0046t0073 a0001c0050t0053 a0001c0061t0001 a0001c0068t0015 a0001c0080t0040 a0001c0085t0020 a0001c0090t0001 a0001c0093t0009 a0001c0094t0002 a0001c0105t0001 a0001c0109t0038 a0001c0115t0042 a0002c0022t0036 a0002c0035t0047 a0002c0053t0022 a0002c0054t0079 a0002c0074t0041 a0002c0075t0026 a0002c0078t0044 a0002c0091t0002 a0003c0034t0030 a0003c0057t0080 a0004c0056t0062 a0004c0086t0002 a0004c0099t0014 a0005c0065t0023 a0005c0107t0068 a0006c0083t0004 a0006c0116t0004 a0007c0088t0076 a0008c0008t0082 a0008c0067t0059 a0009c0113t0011 a0010c0112t0081 a0011c0110t0074 a0012c0104t0071 a0014c0010t0070 a0018c0044t0064 a0020c0024t0077 a0022c0013t0007 a0023c0095t0002 a0024c0038t0075 a0025c0096t0067 a0027c0023t0001 a0030c0052t0049 a0031c0069t0043 a0037c0101t0008	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(63): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0006t0002g0109 a0001c0006t0060g0103 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0021t0005g0012 a0001c0026t0006g0093 a0001c0039t0066g0080 a0001c0040t0019g0123 a0001c0046t0073g0091 a0001c0050t0053g0120 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0080t0040g0025 a0001c0085t0020g0060 a0001c0090t0001g0027 a0001c0093t0009g0007 a0001c0094t0002g0110 a0001c0105t0001g0029 a0001c0109t0038g0013 a0001c0115t0042g0055 a0002c0022t0036g0048 a0002c0035t0047g0076 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0074t0041g0031 a0002c0075t0026g0051 a0002c0078t0044g0064 a0002c0091t0002g0114 a0003c0034t0030g0038 a0003c0057t0080g0075 a0004c0056t0062g0072 a0004c0086t0002g0118 a0004c0099t0014g0020 a0005c0065t0023g0050 a0005c0107t0068g0073 a0006c0083t0004g0006 a0006c0116t0004g0039 a0007c0088t0076g0057 a0008c0008t0082g0126 a0008c0067t0059g0079 a0009c0113t0011g0043 a0010c0112t0081g0090 a0011c0110t0074g0082 a0012c0104t0071g0058 a0014c0010t0070g0084 a0018c0044t0064g0085 a0020c0024t0077g0104 a0022c0013t0007g0112 a0023c0095t0002g0124 a0024c0038t0075g0067 a0025c0096t0067g0116 a0027c0023t0001g0052 a0030c0052t0049g0098 a0031c0069t0043g0100 a0037c0101t0008g0023	66	126	0.5238	0	c.945 others(4): Show c.9453C>G	p.Leu others(7): Show p.Leu3151Leu	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	60/70	9951/14417	9453/10695	3151/3564		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3108604	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02451.hp1 HG03130.hp1 HG03195.hp1 others(4): Show HG02451.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03540.hp2 HG03579.hp1 NA19030.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0019 a0001c0020 a0001c0026 others(4): Show a0001c0019 a0001c0020 a0001c0026 a0002c0051 a0002c0054 a0006c0116 a0009c0113	a0001c0019t0078 a0001c0020t0016 a0001c0026t0006 others(4): Show a0001c0019t0078 a0001c0020t0016 a0001c0026t0006 a0002c0051t0006 a0002c0054t0079 a0006c0116t0004 a0009c0113t0011	a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0026t0006g0093 others(4): Show a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0026t0006g0093 a0002c0051t0006g0081 a0002c0054t0079g0096 a0006c0116t0004g0039 a0009c0113t0011g0043	7	126	0.0556	0	c.675 others(4): Show c.6753C>T	p.His others(7): Show p.His2251His	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	44/70	7251/14417	6753/10695	2251/3564		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3199708	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG03710.hp2 HG01884.hp2 HG03710.hp2	a0002 a0022 a0002 a0022	a0002c0022 a0022c0013 a0002c0022 a0022c0013	a0002c0022t0036 a0022c0013t0007 a0002c0022t0036 a0022c0013t0007	a0002c0022t0036g0048 a0022c0013t0007g0112 a0002c0022t0036g0048 a0022c0013t0007g0112	2	126	0.0159	0	c.519 others(6): Show c.5194+6C>T		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	33/69					chr8	TogoVar
CSMD1_chr8_2930361_4999914	3343455	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(19): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG01243.hp2 HG01884.hp2 HG01934.hp2 HG02074.hp2 HG02129.hp2 HG02723.hp2 HG03017.hp2 HG03225.hp1 HG03516.hp2 HG03834.hp2 HG04204.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp2 NA19090.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0017 a0023 a0025 a0028 a0034 a0035 a0036	a0001c0007 a0001c0017 a0001c0040 others(18): Show a0001c0007 a0001c0017 a0001c0040 a0001c0061 a0001c0090 a0001c0094 a0001c0105 a0002c0022 a0002c0048 a0002c0089 a0002c0091 a0002c0092 a0004c0099 a0005c0065 a0017c0106 a0023c0095 a0025c0096 a0028c0097 a0034c0055 a0035c0098 a0036c0100	a0001c0007t0001 a0001c0007t0032 a0001c0017t0005 others(19): Show a0001c0007t0001 a0001c0007t0032 a0001c0017t0005 a0001c0040t0019 a0001c0061t0001 a0001c0090t0001 a0001c0094t0002 a0001c0105t0001 a0002c0022t0036 a0002c0048t0013 a0002c0089t0001 a0002c0091t0002 a0002c0092t0001 a0004c0099t0014 a0005c0065t0023 a0017c0106t0012 a0023c0095t0002 a0025c0096t0067 a0028c0097t0018 a0034c0055t0034 a0035c0098t0025 a0036c0100t0017	a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0017t0005g0003 others(19): Show a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0040t0019g0123 a0001c0061t0001g0021 a0001c0090t0001g0027 a0001c0094t0002g0110 a0001c0105t0001g0029 a0002c0022t0036g0048 a0002c0048t0013g0015 a0002c0089t0001g0037 a0002c0091t0002g0114 a0002c0092t0001g0011 a0004c0099t0014g0020 a0005c0065t0023g0050 a0017c0106t0012g0042 a0023c0095t0002g0124 a0025c0096t0067g0116 a0028c0097t0018g0089 a0034c0055t0034g0047 a0035c0098t0025g0019 a0036c0100t0017g0121	22	126	0.1746	0	c.347 others(6): Show c.3475-5A>T		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	22/69					chr8	TogoVar
CSMD1_chr8_2930361_4999914	3369377	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(37): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp2 HG01884.hp1 HG01934.hp2 HG02055.hp2 HG02074.hp2 HG02129.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03516.hp2 HG04204.hp1 NA18906.hp2 NA18971.hp2 NA18983.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp2 NA19090.hp2 NA19240.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0012 a0017 a0018 a0023 a0025 a0028 a0029 a0030 a0034 a0035 a0036 a0037 a0038	a0001c0007 a0001c0043 a0001c0045 others(36): Show a0001c0007 a0001c0043 a0001c0045 a0001c0046 a0001c0047 a0001c0049 a0001c0050 a0001c0090 a0001c0093 a0001c0094 a0001c0105 a0001c0115 a0002c0048 a0002c0051 a0002c0053 a0002c0054 a0002c0089 a0002c0091 a0002c0092 a0003c0057 a0004c0056 a0004c0099 a0007c0029 a0008c0008 a0008c0067 a0011c0110 a0012c0104 a0017c0106 a0018c0044 a0023c0095 a0025c0096 a0028c0097 a0029c0028 a0030c0052 a0034c0055 a0035c0098 a0036c0100 a0037c0101 a0038c0066	a0001c0007t0001 a0001c0007t0032 a0001c0043t0031 others(37): Show a0001c0007t0001 a0001c0007t0032 a0001c0043t0031 a0001c0045t0012 a0001c0046t0073 a0001c0047t0014 a0001c0049t0002 a0001c0050t0053 a0001c0090t0001 a0001c0093t0009 a0001c0094t0002 a0001c0105t0001 a0001c0115t0042 a0002c0048t0013 a0002c0051t0006 a0002c0053t0022 a0002c0054t0079 a0002c0089t0001 a0002c0091t0002 a0002c0092t0001 a0003c0057t0080 a0004c0056t0062 a0004c0099t0014 a0007c0029t0011 a0008c0008t0082 a0008c0067t0059 a0011c0110t0074 a0012c0104t0071 a0017c0106t0012 a0018c0044t0064 a0023c0095t0002 a0025c0096t0067 a0028c0097t0018 a0029c0028t0024 a0030c0052t0049 a0034c0055t0034 a0035c0098t0025 a0036c0100t0017 a0037c0101t0008 a0038c0066t0010	a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0043t0031g0044 others(37): Show a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0043t0031g0044 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0050t0053g0120 a0001c0090t0001g0027 a0001c0093t0009g0007 a0001c0094t0002g0110 a0001c0105t0001g0029 a0001c0115t0042g0055 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0089t0001g0037 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0057t0080g0075 a0004c0056t0062g0072 a0004c0099t0014g0020 a0007c0029t0011g0054 a0008c0008t0082g0126 a0008c0067t0059g0079 a0011c0110t0074g0082 a0012c0104t0071g0058 a0017c0106t0012g0042 a0018c0044t0064g0085 a0023c0095t0002g0124 a0025c0096t0067g0116 a0028c0097t0018g0089 a0029c0028t0024g0040 a0030c0052t0049g0098 a0034c0055t0034g0047 a0035c0098t0025g0019 a0036c0100t0017g0121 a0037c0101t0008g0023 a0038c0066t0010g0032	40	126	0.3175	0	c.278 others(6): Show c.2783-7T>A		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	18/69					chr8	TogoVar
CSMD1_chr8_2930361_4999914	3493625	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01081.hp2 HG01261.hp1 HG02129.hp1 others(3): Show HG01081.hp2 HG01261.hp1 HG02129.hp1 HG03516.hp2 NA18995.hp1 NA19090.hp1	a0001 a0005 a0017 a0001 a0005 a0017	a0001c0102 a0001c0103 a0001c0108 others(3): Show a0001c0102 a0001c0103 a0001c0108 a0001c0109 a0005c0107 a0017c0106	a0001c0102t0005 a0001c0103t0033 a0001c0108t0054 others(3): Show a0001c0102t0005 a0001c0103t0033 a0001c0108t0054 a0001c0109t0038 a0005c0107t0068 a0017c0106t0012	a0001c0102t0005g0034 a0001c0103t0033g0028 a0001c0108t0054g0074 others(3): Show a0001c0102t0005g0034 a0001c0103t0033g0028 a0001c0108t0054g0074 a0001c0109t0038g0013 a0005c0107t0068g0073 a0017c0106t0012g0042	6	126	0.0476	0	c.144 others(4): Show c.1446C>T	p.Tyr others(6): Show p.Tyr482Tyr	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	11/70	1944/14417	1446/10695	482/3564		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3575064	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03540.hp2 NA20129.hp2 HG03540.hp2 NA20129.hp2	a0001 a0009 a0001 a0009	a0001c0111 a0009c0113 a0001c0111 a0009c0113	a0001c0111t0045 a0009c0113t0011 a0001c0111t0045 a0009c0113t0011	a0001c0111t0045g0063 a0009c0113t0011g0043 a0001c0111t0045g0063 a0009c0113t0011g0043	2	126	0.0159	0	c.122 others(4): Show c.1225A>C	p.Arg others(6): Show p.Arg409Arg	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/70	1723/14417	1225/10695	409/3564		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3575073	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0016 a0001c0020t0016	a0001c0020t0016g0065 a0001c0020t0016g0065	1	126	0.0079	0	c.122 others(6): Show c.1223-7T>C		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	9/69					chr8	TogoVar
CSMD1_chr8_2930361_4999914	3708498	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0002 a0001c0049t0002	a0001c0049t0002g0071 a0001c0049t0002g0071	1	126	0.0079	0	c.932 others(5): Show c.932-7C>T		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69					chr8	TogoVar
CSMD2_chr1_33508998_34170230	33724317	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00438.hp2 HG00673.hp1 others(53): Show HG00438.hp1 HG00438.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0020 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031	a0001c0001 a0001c0026 a0001c0040 others(46): Show a0001c0001 a0001c0026 a0001c0040 a0001c0042 a0001c0044 a0001c0046 a0001c0047 a0002c0002 a0002c0005 a0002c0006 a0002c0027 a0002c0043 a0003c0003 a0003c0004 a0003c0035 a0003c0037 a0003c0050 a0004c0031 a0004c0032 a0004c0034 a0004c0049 a0005c0012 a0005c0015 a0005c0020 a0006c0013 a0006c0016 a0007c0024 a0008c0022 a0009c0055 a0010c0056 a0011c0039 a0012c0028 a0013c0041 a0014c0036 a0015c0053 a0017c0052 a0018c0029 a0019c0030 a0020c0054 a0022c0019 a0023c0017 a0024c0014 a0025c0011 a0026c0023 a0027c0018 a0028c0010 a0029c0009 a0030c0008 a0031c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0026t0003 a0001c0040t0001 a0001c0042t0005 a0001c0044t0002 a0001c0046t0002 a0001c0047t0001 a0002c0002t0001 a0002c0005t0003 a0002c0006t0001 a0002c0006t0004 a0002c0027t0003 a0002c0043t0003 a0003c0003t0002 a0003c0003t0005 a0003c0004t0003 a0003c0035t0006 a0003c0037t0007 a0003c0050t0004 a0004c0031t0004 a0004c0032t0001 a0004c0034t0015 a0004c0049t0009 a0005c0012t0001 a0005c0015t0001 a0005c0020t0006 a0006c0013t0003 a0006c0016t0004 a0007c0024t0002 a0008c0022t0001 a0009c0055t0001 a0010c0056t0001 a0011c0039t0014 a0012c0028t0007 a0013c0041t0005 a0014c0036t0002 a0015c0053t0002 a0017c0052t0003 a0018c0029t0007 a0019c0030t0003 a0020c0054t0008 a0022c0019t0011 a0023c0017t0016 a0024c0014t0002 a0025c0011t0001 a0026c0023t0003 a0027c0018t0001 a0028c0010t0017 a0029c0009t0018 a0030c0008t0004 a0031c0007t0002	a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0002g0043 others(53): Show a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0002g0043 a0001c0001t0003g0063 a0001c0001t0005g0055 a0001c0026t0003g0035 a0001c0040t0001g0010 a0001c0042t0005g0051 a0001c0044t0002g0026 a0001c0046t0002g0050 a0001c0047t0001g0031 a0002c0002t0001g0013 a0002c0005t0003g0056 a0002c0006t0001g0008 a0002c0006t0004g0052 a0002c0027t0003g0045 a0002c0043t0003g0061 a0003c0003t0002g0009 a0003c0003t0005g0029 a0003c0004t0003g0053 a0003c0004t0003g0054 a0003c0035t0006g0006 a0003c0037t0007g0038 a0003c0050t0004g0037 a0004c0031t0004g0005 a0004c0032t0001g0022 a0004c0034t0015g0015 a0004c0049t0009g0012 a0005c0012t0001g0003 a0005c0015t0001g0021 a0005c0020t0006g0046 a0006c0013t0003g0058 a0006c0016t0004g0034 a0007c0024t0002g0057 a0008c0022t0001g0060 a0009c0055t0001g0049 a0010c0056t0001g0047 a0011c0039t0014g0014 a0012c0028t0007g0041 a0013c0041t0005g0011 a0014c0036t0002g0044 a0015c0053t0002g0024 a0017c0052t0003g0040 a0018c0029t0007g0025 a0019c0030t0003g0020 a0020c0054t0008g0030 a0022c0019t0011g0017 a0023c0017t0016g0066 a0024c0014t0002g0059 a0025c0011t0001g0004 a0026c0023t0003g0039 a0027c0018t0001g0048 a0028c0010t0017g0064 a0029c0009t0018g0065 a0030c0008t0004g0001 a0031c0007t0002g0002	56	66	0.8485	0	c.288 others(6): Show c.2885-4G>A		CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	18/70					chr1	TogoVar
CSMD3_chr8_112217928_113441939	112263816	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG02055.hp2 HG02559.hp2 others(7): Show HG01109.hp1 HG02055.hp2 HG02559.hp2 HG02717.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 NA20300.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0011 a0013	a0001c0023 a0002c0003 a0002c0032 others(6): Show a0001c0023 a0002c0003 a0002c0032 a0005c0012 a0005c0013 a0007c0009 a0008c0014 a0011c0035 a0013c0026	a0001c0023t0001 a0002c0003t0002 a0002c0032t0001 others(6): Show a0001c0023t0001 a0002c0003t0002 a0002c0032t0001 a0005c0012t0001 a0005c0013t0001 a0007c0009t0001 a0008c0014t0005 a0011c0035t0001 a0013c0026t0001	a0001c0023t0001g0056 a0002c0003t0002g0051 a0002c0032t0001g0079 others(7): Show a0001c0023t0001g0056 a0002c0003t0002g0051 a0002c0032t0001g0079 a0005c0012t0001g0038 a0005c0013t0001g0039 a0007c0009t0001g0048 a0007c0009t0001g0069 a0008c0014t0005g0040 a0011c0035t0001g0003 a0013c0026t0001g0057	10	80	0.1250	0	c.968 others(6): Show c.9689-4G>T		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	60/70					chr8	TogoVar
CSMD3_chr8_112217928_113441939	112296014	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00438.hp1 HG00741.hp2 others(29): Show HG00423.hp1 HG00438.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG02055.hp2 HG02559.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03516.hp1 HG03688.hp2 NA18944.hp1 NA18990.hp1 NA19063.hp1 NA20300.hp2	a0001 a0002 a0005 others(8): Show a0001 a0002 a0005 a0007 a0008 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0007 a0001c0016 others(18): Show a0001c0001 a0001c0007 a0001c0016 a0001c0023 a0001c0024 a0002c0003 a0002c0005 a0002c0010 a0002c0011 a0002c0032 a0002c0033 a0005c0012 a0005c0013 a0007c0009 a0008c0014 a0011c0035 a0012c0022 a0013c0026 a0014c0030 a0015c0031 a0016c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0007t0001 a0001c0016t0001 a0001c0023t0001 a0001c0024t0002 a0002c0003t0002 a0002c0005t0001 a0002c0010t0002 a0002c0011t0001 a0002c0032t0001 a0002c0033t0002 a0005c0012t0001 a0005c0013t0001 a0007c0009t0001 a0008c0014t0005 a0011c0035t0001 a0012c0022t0001 a0013c0026t0001 a0014c0030t0001 a0015c0031t0002 a0016c0034t0002	a0001c0001t0001g0016 a0001c0001t0002g0014 a0001c0001t0002g0022 others(29): Show a0001c0001t0001g0016 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0068 a0001c0001t0007g0041 a0001c0007t0001g0012 a0001c0007t0001g0043 a0001c0016t0001g0073 a0001c0023t0001g0056 a0001c0024t0002g0024 a0002c0003t0002g0006 a0002c0003t0002g0051 a0002c0005t0001g0027 a0002c0005t0001g0033 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0010t0002g0070 a0002c0011t0001g0001 a0002c0032t0001g0079 a0002c0033t0002g0029 a0005c0012t0001g0038 a0005c0013t0001g0039 a0007c0009t0001g0048 a0007c0009t0001g0069 a0008c0014t0005g0040 a0011c0035t0001g0003 a0012c0022t0001g0013 a0013c0026t0001g0057 a0014c0030t0001g0030 a0015c0031t0002g0049 a0016c0034t0002g0011	32	80	0.4000	0	c.844 others(6): Show c.8441-8T>C		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	53/70					chr8	TogoVar
CSMD3_chr8_112217928_113441939	112472706	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03516.hp1 HG03516.hp1	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0001 a0013c0026t0001	a0013c0026t0001g0057 a0013c0026t0001g0057	1	80	0.0125	0	c.528 others(4): Show c.5280G>C	p.Ala others(7): Show p.Ala1760Ala	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/71	5365/13052	5280/11124	1760/3707		chr8	TogoVar

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