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
CFHR5_chr1_196972556_197014678	196983953	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02280.hp1 HG03139.hp1 others(2): Show HG01884.hp2 HG02280.hp1 HG03139.hp1 HG03540.hp2 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0005 a0002c0004t0001 a0002c0004t0005	a0002c0004t0001g0129 a0002c0004t0001g0130 a0002c0004t0001g0131 others(1): Show a0002c0004t0001g0129 a0002c0004t0001g0130 a0002c0004t0001g0131 a0002c0004t0005g0034	5	356	0.0140	0	c.254 others(5): Show c.254-8T>G		CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	2/9					chr1	TogoVar
CFHR5_chr1_196972556_197014678	196984136	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03130.hp2 NA21309.hp2 HG03130.hp2 NA21309.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0119 a0001c0007t0003g0120 a0001c0007t0003g0119 a0001c0007t0003g0120	2	356	0.0056	0	c.429 others(3): Show c.429T>C	p.Thr others(6): Show p.Thr143Thr	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	3/10	538/2814	429/1710	143/569		chr1	TogoVar
CFH_chr1_196647043_196752504	196673839	C C	CTT CTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00544.hp1 HG00558.hp2 others(114): Show HG00140.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0009 a0011 a0014 a0016 a0017	a0001c0001 a0001c0008 a0001c0010 others(9): Show a0001c0001 a0001c0008 a0001c0010 a0001c0019 a0002c0002 a0006c0006 a0009c0013 a0009c0020 a0011c0012 a0014c0018 a0016c0021 a0017c0023	a0001c0001t0001 a0001c0001t0004 a0001c0008t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0008t0001 a0001c0010t0001 a0001c0019t0001 a0002c0002t0001 a0006c0006t0001 a0009c0013t0001 a0009c0020t0001 a0011c0012t0001 a0014c0018t0005 a0016c0021t0001 a0017c0023t0001	a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0039 others(114): Show a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0004g0290 a0001c0008t0001g0056 a0001c0008t0001g0228 a0001c0010t0001g0264 a0001c0010t0001g0276 a0001c0010t0001g0277 a0001c0019t0001g0267 a0002c0002t0001g0051 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0006c0006t0001g0205 a0006c0006t0001g0261 a0009c0013t0001g0206 a0009c0013t0001g0210 a0009c0020t0001g0244 a0011c0012t0001g0164 a0014c0018t0005g0274 a0016c0021t0001g0287 a0017c0023t0001g0136	117	308	0.3799	2	c.245 others(14): Show c.245-10_245-9dupTT		CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	2/21				INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196673849	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 NA18747.hp2 HG02257.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0242 a0001c0001t0001g0225 a0001c0001t0001g0242	2	308	0.0065	0	c.245 others(5): Show c.245-8C>T		CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	2/21					chr1	TogoVar
CFH_chr1_196647043_196752504	196673850	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	308	0.0033	0	c.245 others(5): Show c.245-7G>A		CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	2/21					chr1	TogoVar
CFH_chr1_196647043_196752504	196726948	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG03516.hp1 NA19240.hp2 HG02818.hp1 HG03516.hp1 NA19240.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0019 a0006c0006t0001g0020 a0006c0006t0001g0021 a0006c0006t0001g0019 a0006c0006t0001g0020 a0006c0006t0001g0021	3	308	0.0097	0	c.223 others(6): Show c.2236+8T>A		CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	14/21					chr1	TogoVar
CFH_chr1_196647043_196752504	196742059	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp2 HG02015.hp2 HG02083.hp2 others(1): Show HG00544.hp2 HG02015.hp2 HG02083.hp2 HG02155.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0013 a0002c0002 a0009c0013	a0002c0002t0001 a0009c0013t0001 a0002c0002t0001 a0009c0013t0001	a0002c0002t0001g0081 a0002c0002t0001g0166 a0002c0002t0001g0266 others(1): Show a0002c0002t0001g0081 a0002c0002t0001g0166 a0002c0002t0001g0266 a0009c0013t0001g0210	4	308	0.0130	0	c.313 others(6): Show c.3133+8G>T		CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	19/21					chr1	TogoVar
CFI_chr4_109735695_109806999	109757790	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00733.hp1 HG01167.hp2 others(8): Show HG00558.hp1 HG00733.hp1 HG01167.hp2 HG01169.hp1 HG01346.hp1 HG01928.hp2 HG01975.hp2 HG02165.hp1 NA18747.hp1 NA18972.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0038 others(7): Show a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0038 a0001c0002t0001g0067 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0140	11	354	0.0311	0	c.884 others(5): Show c.884-7T>C		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	6/12					chr4	TogoVar
CFI_chr4_109735695_109806999	109764531	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02145.hp1 HG02258.hp2 others(14): Show HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0098 a0001c0001t0001g0270 a0001c0001t0001g0339 others(14): Show a0001c0001t0001g0098 a0001c0001t0001g0270 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0002g0182 a0001c0001t0002g0346 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0347 a0001c0001t0003g0348	17	354	0.0480	0	c.482 others(5): Show c.482+6C>T		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	3/12					chr4	TogoVar
CFI_chr4_109735695_109806999	109764531	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02897.hp2 NA19030.hp2 NA20129.hp2 HG02897.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0058 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0058	3	354	0.0085	0	c.482 others(5): Show c.482+6C>A		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	3/12					chr4	TogoVar
CFL1_chr11_65849673_65863180	65855447	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0021 a0001c0005t0001g0021	1	394	0.0025	0	c.390 others(3): Show c.390G>A	p.Gly others(6): Show p.Gly130Gly	CFL1	ENSG00000172757.13	transcript	ENST00000308162.10	protein_coding	4/4	471/1245	390/501	130/166		chr11	TogoVar
CFL2_chr14_34704113_34719593	34713142	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00423.hp1 HG00544.hp1 others(124): Show HG00140.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.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 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18974.hp2 NA18978.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19010.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19080.hp2 NA19082.hp1 NA19086.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(19): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053	a0001c0001t0003g0003 a0001c0001t0003g0072 a0001c0001t0005g0005 others(20): Show a0001c0001t0003g0003 a0001c0001t0003g0072 a0001c0001t0005g0005 a0001c0001t0010g0010 a0001c0001t0011g0011 a0001c0001t0012g0014 a0001c0001t0013g0015 a0001c0001t0014g0016 a0001c0001t0020g0020 a0001c0001t0025g0042 a0001c0001t0026g0026 a0001c0001t0027g0027 a0001c0001t0028g0028 a0001c0001t0043g0036 a0001c0001t0044g0037 a0001c0001t0045g0038 a0001c0001t0046g0039 a0001c0001t0047g0040 a0001c0001t0048g0041 a0001c0001t0050g0043 a0001c0001t0051g0044 a0001c0001t0052g0045 a0001c0001t0053g0046	127	431	0.2947	-1	c.312 others(6): Show c.312-7delT		CFL2	ENSG00000165410.15	transcript	ENST00000298159.11	protein_coding	2/3					chr14	TogoVar
CFLAR_chr2_201111164_201181687	201145378	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02055.hp1 HG02145.hp2 HG02647.hp2 others(9): Show HG02055.hp1 HG02145.hp2 HG02647.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03516.hp1 HG03579.hp2 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0020 a0002c0003t0029 a0002c0003t0103 others(6): Show a0002c0003t0020 a0002c0003t0029 a0002c0003t0103 a0002c0003t0111 a0002c0004t0036 a0002c0004t0037 a0002c0004t0038 a0002c0004t0039 a0002c0004t0040	a0002c0003t0020g0147 a0002c0003t0020g0148 a0002c0003t0020g0149 others(9): Show a0002c0003t0020g0147 a0002c0003t0020g0148 a0002c0003t0020g0149 a0002c0003t0029g0145 a0002c0003t0029g0167 a0002c0003t0103g0146 a0002c0003t0111g0144 a0002c0004t0036g0169 a0002c0004t0037g0177 a0002c0004t0038g0176 a0002c0004t0039g0175 a0002c0004t0040g0054	12	234	0.0513	0	c.607 others(3): Show c.607C>A	p.Leu others(6): Show p.Leu203Ile	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	6/10	1062/14612	607/1443	203/480		chr2	TogoVar
CFP_chrX_47618282_47634930	47626766	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0025 a0004c0005t0001g0025	1	303	0.0033	0	c.940 others(5): Show c.940+7A>G		CFP	ENSG00000126759.14	transcript	ENST00000396992.8	protein_coding	6/8					chrX	TogoVar
CFTR_chr7_117475025_117673665	117536514	AGATT AGATT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00609.hp2 HG00642.hp1 HG01071.hp2 HG01074.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02280.hp1 HG02523.hp1 HG02630.hp2 HG02683.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03239.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18947.hp2 NA18954.hp1 NA18960.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18978.hp1 NA18982.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(5): Show a0001 a0004 a0007 a0008 a0010 a0011 a0015 a0016	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0017 a0004c0026 a0004c0027 a0007c0024 a0008c0014 a0010c0018 a0011c0016 a0015c0012 a0016c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0003 a0001c0005t0006 a0001c0006t0003 a0001c0006t0006 a0001c0017t0001 a0004c0026t0002 a0004c0027t0001 a0007c0024t0003 a0008c0014t0002 a0010c0018t0005 a0011c0016t0002 a0015c0012t0002 a0016c0028t0002	a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(69): Show a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0151 a0001c0001t0002g0199 a0001c0001t0004g0009 a0001c0001t0005g0019 a0001c0001t0005g0025 a0001c0001t0005g0047 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0007g0060 a0001c0001t0009g0052 a0001c0001t0011g0049 a0001c0003t0003g0021 a0001c0003t0003g0026 a0001c0003t0003g0040 a0001c0003t0003g0048 a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0002 a0001c0004t0002g0008 a0001c0004t0003g0191 a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 a0001c0005t0006g0038 a0001c0006t0003g0015 a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 a0001c0017t0001g0064 a0004c0026t0002g0037 a0004c0027t0001g0061 a0007c0024t0003g0148 a0008c0014t0002g0027 a0010c0018t0005g0028 a0011c0016t0002g0201 a0015c0012t0002g0033 a0016c0028t0002g0031	72	202	0.3564	-4	c.744 others(15): Show c.744-9_744-6delGATT		CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	6/26				INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117548628	G G	GTT GTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp1 HG02818.hp2 HG02886.hp2 others(3): Show HG01496.hp1 HG02818.hp2 HG02886.hp2 HG03017.hp2 HG03098.hp2 NA19030.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0007c0024	a0001c0001t0002 a0001c0004t0003 a0001c0005t0003 others(1): Show a0001c0001t0002 a0001c0004t0003 a0001c0005t0003 a0007c0024t0003	a0001c0001t0002g0151 a0001c0004t0003g0191 a0001c0005t0003g0149 others(3): Show a0001c0001t0002g0151 a0001c0004t0003g0191 a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 a0007c0024t0003g0148	6	202	0.0297	2	c.121 others(15): Show c.1210-7_1210-6dupTT		CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	9/26				INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117559655	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01175.hp1 HG01943.hp2 HG01175.hp1 HG01943.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0010 a0001c0008t0003 a0001c0008t0010	a0001c0008t0003g0139 a0001c0008t0010g0133 a0001c0008t0003g0139 a0001c0008t0010g0133	2	202	0.0099	0	c.158 others(4): Show c.1584G>A	p.Glu others(6): Show p.Glu528Glu	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	11/27	1654/6070	1584/4443	528/1480		chr7	TogoVar
CFTR_chr7_117475025_117673665	117666903	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0194 a0001c0005t0003g0194	1	202	0.0050	0	c.424 others(6): Show c.4243-5C>T		CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	26/26					chr7	TogoVar
CGAS_chr6_73418711_73457297	73428701	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0017 a0002c0001t0017	a0002c0001t0017g0110 a0002c0001t0017g0110	1	410	0.0024	0	c.121 others(6): Show c.1217+8C>G		CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	4/4					chr6	TogoVar
CGB1_chr19_49030569_49041895	49036303	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00558.hp1 HG00597.hp2 HG00741.hp1 others(91): Show HG00558.hp1 HG00597.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18982.hp1 NA19010.hp1 NA19064.hp1 NA19065.hp1 NA19079.hp1 NA19085.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1	a0000 a0002 a0005 a0000 a0002 a0005	a0000c0003 a0000c0010 a0002c0002 others(3): Show a0000c0003 a0000c0010 a0002c0002 a0002c0007 a0002c0017 a0005c0016	a0000c0003t0001 a0000c0003t0004 a0000c0010t0001 others(6): Show a0000c0003t0001 a0000c0003t0004 a0000c0010t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0007t0001 a0002c0017t0001 a0005c0016t0001	a0000c0003t0001g0015 a0000c0003t0004g0008 a0000c0010t0001g0018 others(9): Show a0000c0003t0001g0015 a0000c0003t0004g0008 a0000c0010t0001g0018 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0017 a0002c0002t0001g0032 a0002c0002t0004g0006 a0002c0002t0007g0019 a0002c0007t0001g0014 a0002c0017t0001g0031 a0005c0016t0001g0030	94	376	0.2500	0	c.10A others(2): Show c.10A>G	p.Arg others(4): Show p.Arg4Gly	CGB1	ENSG00000267631.5	transcript	ENST00000301407.8	protein_coding	2/3	194/693	10/468	4/155		chr19	TogoVar
CGB1_chr19_49030569_49041895	49036309	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00597.hp2 HG00741.hp1 others(91): Show HG00558.hp1 HG00597.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18982.hp1 NA19010.hp1 NA19064.hp1 NA19065.hp1 NA19079.hp1 NA19085.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1	a0000 a0002 a0005 a0000 a0002 a0005	a0000c0003 a0000c0010 a0002c0002 others(3): Show a0000c0003 a0000c0010 a0002c0002 a0002c0007 a0002c0017 a0005c0016	a0000c0003t0001 a0000c0003t0004 a0000c0010t0001 others(6): Show a0000c0003t0001 a0000c0003t0004 a0000c0010t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0007t0001 a0002c0017t0001 a0005c0016t0001	a0000c0003t0001g0015 a0000c0003t0004g0008 a0000c0010t0001g0018 others(9): Show a0000c0003t0001g0015 a0000c0003t0004g0008 a0000c0010t0001g0018 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0017 a0002c0002t0001g0032 a0002c0002t0004g0006 a0002c0002t0007g0019 a0002c0007t0001g0014 a0002c0017t0001g0031 a0005c0016t0001g0030	94	376	0.2500	0	c.10- others(4): Show c.10-6C>T		CGB1	ENSG00000267631.5	transcript	ENST00000301407.8	protein_coding	1/2					chr19	TogoVar
CGB5_chr19_49038848_49050311	49045311	A A	G G	splice_region_variant splice_region_variant	LOW	HG01109.hp1 HG01433.hp1 HG02970.hp1 others(1): Show HG01109.hp1 HG01433.hp1 HG02970.hp1 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0010 a0001c0006t0009 a0001c0006t0010	a0001c0006t0009g0014 a0001c0006t0009g0015 a0001c0006t0010g0014 others(1): Show a0001c0006t0009g0014 a0001c0006t0009g0015 a0001c0006t0010g0014 a0001c0006t0010g0015	4	382	0.0105	0	c.17 others(3): Show c.17A>G		CGB5	ENSG00000189052.7	transcript	ENST00000301408.7	protein_coding	3/3					chr19	TogoVar
CGB7_chr19_49049274_49062749	49054276	C C	T T	splice_region_variant splice_region_variant	LOW	HG01257.hp2 HG01258.hp1 HG02738.hp1 others(1): Show HG01257.hp2 HG01258.hp1 HG02738.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0014	4	422	0.0095	0	c.15 others(3): Show c.15G>A		CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding	5/5					chr19	TogoVar
CGB7_chr19_49049274_49062749	49055357	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18957.hp2 NA19057.hp1 NA18957.hp2 NA19057.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0023 a0003c0003t0001g0023	2	422	0.0047	0	c.15+ others(4): Show c.15+4A>C		CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding	3/4					chr19	TogoVar
CGB8_chr19_49042638_49054111	49047640	C C	T T	splice_region_variant splice_region_variant	LOW	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0031 a0001c0001t0013g0031	1	394	0.0025	0	c.15 others(3): Show c.15G>A		CGB8	ENSG00000213030.6	transcript	ENST00000448456.4	protein_coding	3/3					chr19	TogoVar
CGNL1_chr15_57371505_57555717	57451497	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG03486.hp2 HG02055.hp2 HG03486.hp2	a0002 a0028 a0002 a0028	a0002c0002 a0028c0021 a0002c0002 a0028c0021	a0002c0002t0013 a0028c0021t0008 a0002c0002t0013 a0028c0021t0008	a0002c0002t0013g0114 a0028c0021t0008g0007 a0002c0002t0013g0114 a0028c0021t0008g0007	2	294	0.0068	0	c.180 others(6): Show c.1804-3T>C		CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	4/18					chr15	TogoVar
CGNL1_chr15_57371505_57555717	57451600	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0018 a0018	a0018c0034 a0018c0034	a0018c0034t0004 a0018c0034t0004	a0018c0034t0004g0035 a0018c0034t0004g0035	1	294	0.0034	0	c.190 others(4): Show c.1904A>G	p.Lys others(6): Show p.Lys635Arg	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	5/19	1982/7214	1904/3909	635/1302		chr15	TogoVar
CGNL1_chr15_57371505_57555717	57546247	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG02809.hp1 HG02895.hp2 others(1): Show HG01109.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1	a0002 a0005 a0015 a0002 a0005 a0015	a0002c0038 a0005c0006 a0015c0035 a0002c0038 a0005c0006 a0015c0035	a0002c0038t0012 a0005c0006t0033 a0005c0006t0035 others(1): Show a0002c0038t0012 a0005c0006t0033 a0005c0006t0035 a0015c0035t0012	a0002c0038t0012g0123 a0005c0006t0033g0037 a0005c0006t0035g0038 others(1): Show a0002c0038t0012g0123 a0005c0006t0033g0037 a0005c0006t0035g0038 a0015c0035t0012g0284	4	294	0.0136	0	c.377 others(6): Show c.3773+8G>T		CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	18/18					chr15	TogoVar
CGN_chr1_151506387_151543692	151530490	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01192.hp1 HG01192.hp1	a0028 a0028	a0028c0029 a0028c0029	a0028c0029t0033 a0028c0029t0033	a0028c0029t0033g0238 a0028c0029t0033g0238	1	382	0.0026	0	c.231 others(4): Show c.2315C>G	p.Ala others(6): Show p.Ala772Gly	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	13/21	2458/5101	2315/3612	772/1203		chr1	TogoVar
CGN_chr1_151506387_151543692	151530754	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 HG00597.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0003 a0013c0016t0003	a0013c0016t0003g0123 a0013c0016t0003g0123	1	382	0.0026	0	c.257 others(6): Show c.2571+8A>G		CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	13/20					chr1	TogoVar
CGN_chr1_151506387_151543692	151532395	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0241 a0001c0001t0015g0241	1	382	0.0026	0	c.257 others(6): Show c.2572-7G>A		CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	13/20					chr1	TogoVar
CHADL_chr22_41224513_41245931	41235145	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0095 a0001c0012t0001g0095	1	414	0.0024	0	c.226 others(4): Show c.2262G>A	p.Lys others(6): Show p.Lys754Lys	CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding	5/6	2312/2530	2262/2289	754/762		chr22	TogoVar
CHAD_chr17_50459496_50473880	50465873	GGGGAGCA others(4): Show GGGGAGCAAGGT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	386	0.0026	-11	c.775 others(23): Show c.775-14_775-4delACCTTGCTCCC		CHAD	ENSG00000136457.10	transcript	ENST00000508540.6	protein_coding	1/3					chr17	TogoVar
CHAF1A_chr19_4397640_4448397	4409759	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(47): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02145.hp2 HG02148.hp1 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02698.hp1 HG02886.hp1 HG03017.hp1 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA19006.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0003 a0006c0008 a0013c0015 a0001c0003 a0006c0008 a0013c0015	a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 others(4): Show a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0006c0008t0003 a0013c0015t0003	a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0013 others(44): Show a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0277 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0280 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0290 a0001c0003t0003g0292 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0295 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0307 a0001c0003t0003g0308 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0311 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0003g0318 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0321 a0001c0003t0003g0322 a0001c0003t0005g0300 a0001c0003t0005g0301 a0001c0003t0007g0313 a0001c0003t0008g0312 a0001c0003t0009g0286 a0006c0008t0003g0299 a0006c0008t0003g0314 a0006c0008t0003g0315 a0013c0015t0003g0291	50	384	0.1302	0	c.960 others(3): Show c.960A>G	p.Arg others(6): Show p.Arg320Arg	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/15	1083/3366	960/2871	320/956		chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4442339	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19076.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 others(2): Show a0001 a0006 a0008 a0013 a0015	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0020 a0001c0021 a0001c0022 a0001c0026 a0006c0008 a0008c0009 a0013c0015 a0015c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0007t0001 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0026t0001 a0006c0008t0003 a0008c0009t0001 a0013c0015t0003 a0015c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(221): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0328 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0004g0325 a0001c0001t0004g0327 a0001c0001t0004g0329 a0001c0001t0010g0119 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0277 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0280 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0290 a0001c0003t0003g0292 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0295 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0307 a0001c0003t0003g0308 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0311 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0003g0318 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0321 a0001c0003t0003g0322 a0001c0003t0005g0300 a0001c0003t0005g0301 a0001c0003t0007g0313 a0001c0003t0008g0312 a0001c0003t0009g0286 a0001c0007t0001g0124 a0001c0007t0001g0173 a0001c0007t0001g0187 a0001c0007t0001g0201 a0001c0020t0001g0136 a0001c0021t0001g0230 a0001c0022t0001g0135 a0001c0026t0001g0002 a0006c0008t0003g0299 a0006c0008t0003g0314 a0006c0008t0003g0315 a0008c0009t0001g0158 a0008c0009t0001g0159 a0013c0015t0003g0291 a0015c0014t0001g0226	232	384	0.6042	0	c.276 others(4): Show c.2768C>T	p.Ala others(6): Show p.Ala923Val	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	14/15	2891/3366	2768/2871	923/956		chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36386270	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	346	0.0029	0	c.126 others(5): Show c.126+8G>A		CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	2/13					chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36397402	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG01192.hp1 HG01361.hp2 others(6): Show HG00408.hp2 HG01192.hp1 HG01361.hp2 HG01943.hp1 HG02148.hp2 HG02293.hp1 HG02602.hp1 HG04115.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0020	a0001c0001t0001g0099 a0001c0001t0003g0201 a0001c0001t0008g0043 others(6): Show a0001c0001t0001g0099 a0001c0001t0003g0201 a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0008g0046 a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0020g0164	9	346	0.0260	1	c.482 others(6): Show c.482-5dupT		CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	5/13				INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAMP1_chr13_114309503_114332322	114321086	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(219): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0016 a0001c0018 a0002c0017 a0004c0008 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0002t0003 a0001c0003t0001 a0001c0005t0001 a0001c0016t0001 a0001c0018t0001 a0002c0017t0004 a0004c0008t0001 a0006c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0025 a0001c0001t0002g0155 a0001c0001t0004g0002 a0001c0001t0005g0050 a0001c0001t0010g0104 a0001c0001t0011g0035 a0001c0001t0012g0039 a0001c0001t0013g0002 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0148 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0003t0001g0012 a0001c0003t0001g0028 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0003t0001g0064 a0001c0005t0001g0002 a0001c0005t0001g0039 a0001c0016t0001g0091 a0001c0018t0001g0087 a0002c0017t0004g0121 a0004c0008t0001g0006 a0004c0008t0001g0037 a0004c0008t0001g0079 a0006c0013t0001g0001	222	414	0.5362	-1	c.-17 others(7): Show c.-178-5delT		CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr13	TogoVar
CHAMP1_chr13_114309503_114332322	114321086	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00735.hp1 HG01070.hp2 others(37): Show HG00642.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG02004.hp2 HG02040.hp1 HG02258.hp2 HG02273.hp2 HG02572.hp2 HG02818.hp2 HG02886.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04204.hp2 NA18954.hp2 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18999.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp2 NA19074.hp1 NA19086.hp2 NA20300.hp1 NA20300.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0005c0007 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0007 a0005c0007t0001 a0007c0011t0001	a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0092 others(21): Show a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0002g0138 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0003t0001g0018 a0001c0003t0001g0027 a0001c0003t0001g0032 a0001c0003t0001g0054 a0001c0003t0001g0063 a0001c0004t0001g0015 a0001c0004t0001g0024 a0001c0004t0001g0045 a0001c0004t0001g0115 a0001c0004t0001g0117 a0001c0004t0001g0118 a0001c0004t0007g0116 a0005c0007t0001g0031 a0005c0007t0001g0065 a0007c0011t0001g0142 a0007c0011t0001g0143	40	414	0.0966	-2	c.-17 others(15): Show c.-178-6_-178-5delTT		CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr13	TogoVar
CHAMP1_chr13_114309503_114332322	114321086	CTTT CTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG01167.hp2 HG01169.hp1 others(36): Show HG00733.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01433.hp2 HG02257.hp1 HG02280.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG03041.hp2 HG04199.hp2 HG04204.hp1 NA18940.hp1 NA18942.hp2 NA18951.hp1 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp2 NA18982.hp1 NA18986.hp1 NA18995.hp1 NA18997.hp1 NA19000.hp1 NA19006.hp2 NA19012.hp2 NA19057.hp2 NA19062.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp2 NA19082.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0001c0014 others(1): Show a0001c0002 a0001c0010 a0001c0014 a0002c0006	a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 others(4): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0010t0001 a0001c0014t0001 a0002c0006t0001	a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0055 others(19): Show a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0055 a0001c0002t0001g0062 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0147 a0001c0002t0006g0007 a0001c0002t0008g0007 a0001c0002t0009g0135 a0001c0010t0001g0046 a0001c0014t0001g0026 a0002c0006t0001g0007 a0002c0006t0001g0016 a0002c0006t0001g0126	39	414	0.0942	-3	c.-17 others(16): Show c.-178-7_-178-5delTTT		CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr13	TogoVar
CHAMP1_chr13_114309503_114332322	114321105	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01071.hp1 HG02109.hp1 others(8): Show HG01069.hp2 HG01071.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0094 a0001c0002t0003g0048 a0001c0002t0003g0049 others(6): Show a0001c0001t0001g0094 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153	11	414	0.0266	0	c.-17 others(6): Show c.-178-5T>C		CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	1/2					chr13	TogoVar
CHAT_chr10_49609037_49672942	49627793	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	418	0.0024	0	c.111 others(6): Show c.1111+8G>A		CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	7/14					chr10	TogoVar
CHAT_chr10_49609037_49672942	49648606	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.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 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 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 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 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.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.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 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.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 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.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 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.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 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.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 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0003 a0001c0005 others(31): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0026 a0001c0027 a0001c0028 a0001c0030 a0001c0035 a0002c0002 a0002c0008 a0002c0012 a0002c0020 a0003c0004 a0003c0006 a0003c0007 a0003c0039 a0005c0016 a0006c0014 a0007c0023 a0007c0024 a0008c0038 a0010c0032 a0011c0033 a0012c0031 a0013c0029 a0014c0037 a0015c0021 a0016c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(78): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0036 a0001c0003t0003 a0001c0003t0006 a0001c0003t0008 a0001c0003t0010 a0001c0003t0020 a0001c0003t0021 a0001c0003t0033 a0001c0003t0034 a0001c0005t0005 a0001c0005t0009 a0001c0005t0030 a0001c0010t0003 a0001c0010t0008 a0001c0011t0003 a0001c0011t0022 a0001c0011t0024 a0001c0011t0029 a0001c0013t0005 a0001c0013t0032 a0001c0015t0005 a0001c0015t0009 a0001c0017t0003 a0001c0017t0004 a0001c0019t0002 a0001c0026t0005 a0001c0027t0031 a0001c0028t0005 a0001c0030t0004 a0001c0035t0003 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0012 a0002c0002t0017 a0002c0008t0008 a0002c0008t0010 a0002c0012t0009 a0002c0020t0012 a0003c0004t0001 a0003c0004t0004 a0003c0004t0013 a0003c0004t0027 a0003c0006t0005 a0003c0007t0003 a0003c0007t0006 a0003c0039t0006 a0005c0016t0008 a0005c0016t0009 a0006c0014t0004 a0006c0014t0007 a0007c0023t0007 a0007c0024t0009 a0008c0038t0004 a0010c0032t0025 a0011c0033t0009 a0012c0031t0003 a0013c0029t0009 a0014c0037t0035 a0015c0021t0002 a0016c0022t0002	a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 others(368): Show a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0169 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0254 a0001c0001t0001g0285 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0333 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0354 a0001c0001t0001g0359 a0001c0001t0002g0017 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0212 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0296 a0001c0001t0002g0367 a0001c0001t0003g0019 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0053 a0001c0001t0003g0065 a0001c0001t0003g0220 a0001c0001t0003g0255 a0001c0001t0003g0277 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0353 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0028 a0001c0001t0004g0051 a0001c0001t0004g0058 a0001c0001t0004g0109 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0232 a0001c0001t0004g0261 a0001c0001t0004g0288 a0001c0001t0004g0313 a0001c0001t0004g0315 a0001c0001t0004g0321 a0001c0001t0004g0324 a0001c0001t0004g0327 a0001c0001t0004g0329 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0345 a0001c0001t0004g0355 a0001c0001t0005g0221 a0001c0001t0005g0267 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0006g0356 a0001c0001t0007g0003 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0047 a0001c0001t0007g0179 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0202 a0001c0001t0007g0210 a0001c0001t0007g0234 a0001c0001t0007g0236 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0007g0244 a0001c0001t0007g0247 a0001c0001t0007g0270 a0001c0001t0007g0358 a0001c0001t0008g0001 a0001c0001t0008g0033 a0001c0001t0008g0180 a0001c0001t0008g0195 a0001c0001t0008g0201 a0001c0001t0008g0207 a0001c0001t0008g0211 a0001c0001t0008g0266 a0001c0001t0008g0297 a0001c0001t0008g0299 a0001c0001t0011g0172 a0001c0001t0011g0173 a0001c0001t0012g0188 a0001c0001t0012g0192 a0001c0001t0013g0018 a0001c0001t0013g0225 a0001c0001t0013g0334 a0001c0001t0014g0279 a0001c0001t0014g0281 a0001c0001t0014g0282 a0001c0001t0015g0020 a0001c0001t0016g0022 a0001c0001t0016g0219 a0001c0001t0018g0213 a0001c0001t0019g0245 a0001c0001t0023g0284 a0001c0001t0026g0061 a0001c0001t0028g0347 a0001c0001t0036g0300 a0001c0003t0003g0291 a0001c0003t0003g0293 a0001c0003t0003g0314 a0001c0003t0006g0004 a0001c0003t0006g0023 a0001c0003t0006g0024 a0001c0003t0006g0049 a0001c0003t0006g0055 a0001c0003t0006g0303 a0001c0003t0006g0308 a0001c0003t0006g0309 a0001c0003t0006g0310 a0001c0003t0006g0311 a0001c0003t0006g0319 a0001c0003t0006g0322 a0001c0003t0006g0323 a0001c0003t0006g0328 a0001c0003t0006g0336 a0001c0003t0006g0351 a0001c0003t0006g0352 a0001c0003t0006g0360 a0001c0003t0006g0366 a0001c0003t0008g0015 a0001c0003t0008g0183 a0001c0003t0008g0253 a0001c0003t0010g0016 a0001c0003t0010g0034 a0001c0003t0010g0170 a0001c0003t0010g0187 a0001c0003t0010g0208 a0001c0003t0010g0209 a0001c0003t0010g0238 a0001c0003t0010g0243 a0001c0003t0020g0067 a0001c0003t0021g0298 a0001c0003t0033g0042 a0001c0003t0034g0368 a0001c0005t0005g0026 a0001c0005t0005g0063 a0001c0005t0005g0064 a0001c0005t0005g0168 a0001c0005t0005g0304 a0001c0005t0005g0307 a0001c0005t0005g0326 a0001c0005t0005g0335 a0001c0005t0005g0350 a0001c0005t0009g0186 a0001c0005t0009g0190 a0001c0005t0009g0193 a0001c0005t0009g0239 a0001c0005t0009g0249 a0001c0005t0009g0250 a0001c0005t0009g0252 a0001c0005t0009g0265 a0001c0005t0009g0272 a0001c0005t0030g0341 a0001c0010t0003g0044 a0001c0010t0003g0045 a0001c0010t0003g0223 a0001c0010t0003g0257 a0001c0010t0003g0258 a0001c0010t0003g0259 a0001c0010t0003g0260 a0001c0010t0003g0262 a0001c0010t0008g0268 a0001c0011t0003g0214 a0001c0011t0022g0286 a0001c0011t0024g0283 a0001c0011t0029g0216 a0001c0013t0005g0217 a0001c0013t0005g0294 a0001c0013t0032g0384 a0001c0015t0005g0312 a0001c0015t0009g0248 a0001c0017t0003g0256 a0001c0017t0004g0228 a0001c0019t0002g0171 a0001c0026t0005g0369 a0001c0027t0031g0174 a0001c0028t0005g0370 a0001c0030t0004g0316 a0001c0035t0003g0235 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0030 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0086 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0107 a0002c0002t0002g0379 a0002c0002t0007g0070 a0002c0002t0007g0087 a0002c0002t0007g0090 a0002c0002t0007g0091 a0002c0002t0007g0100 a0002c0002t0007g0106 a0002c0002t0007g0108 a0002c0002t0007g0363 a0002c0002t0007g0372 a0002c0002t0007g0375 a0002c0002t0007g0381 a0002c0002t0008g0088 a0002c0002t0008g0089 a0002c0002t0008g0361 a0002c0002t0008g0362 a0002c0002t0009g0098 a0002c0002t0012g0076 a0002c0002t0012g0096 a0002c0002t0012g0099 a0002c0002t0017g0084 a0002c0008t0008g0365 a0002c0008t0008g0374 a0002c0008t0008g0377 a0002c0008t0008g0378 a0002c0008t0010g0010 a0002c0008t0010g0068 a0002c0008t0010g0069 a0002c0008t0010g0092 a0002c0008t0010g0093 a0002c0008t0010g0364 a0002c0008t0010g0380 a0002c0008t0010g0382 a0002c0012t0009g0077 a0002c0012t0009g0371 a0002c0012t0009g0373 a0002c0020t0012g0085 a0003c0004t0001g0013 a0003c0004t0001g0014 a0003c0004t0001g0046 a0003c0004t0001g0115 a0003c0004t0001g0119 a0003c0004t0001g0120 a0003c0004t0001g0121 a0003c0004t0001g0124 a0003c0004t0001g0129 a0003c0004t0001g0130 a0003c0004t0001g0132 a0003c0004t0001g0133 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0139 a0003c0004t0001g0142 a0003c0004t0001g0143 a0003c0004t0001g0144 a0003c0004t0001g0147 a0003c0004t0001g0154 a0003c0004t0001g0160 a0003c0004t0001g0163 a0003c0004t0001g0167 a0003c0004t0004g0126 a0003c0004t0004g0128 a0003c0004t0004g0156 a0003c0004t0004g0166 a0003c0004t0013g0153 a0003c0004t0027g0113 a0003c0006t0005g0012 a0003c0006t0005g0116 a0003c0006t0005g0117 a0003c0006t0005g0118 a0003c0006t0005g0123 a0003c0006t0005g0131 a0003c0006t0005g0134 a0003c0006t0005g0140 a0003c0006t0005g0141 a0003c0006t0005g0146 a0003c0006t0005g0148 a0003c0006t0005g0149 a0003c0006t0005g0152 a0003c0006t0005g0155 a0003c0006t0005g0157 a0003c0006t0005g0161 a0003c0007t0003g0112 a0003c0007t0003g0122 a0003c0007t0003g0125 a0003c0007t0003g0135 a0003c0007t0003g0145 a0003c0007t0003g0158 a0003c0007t0006g0114 a0003c0007t0006g0127 a0003c0007t0006g0136 a0003c0007t0006g0150 a0003c0007t0006g0159 a0003c0007t0006g0162 a0003c0007t0006g0164 a0003c0007t0006g0165 a0003c0039t0006g0151 a0005c0016t0008g0269 a0005c0016t0009g0271 a0006c0014t0004g0287 a0006c0014t0007g0178 a0007c0023t0007g0102 a0007c0024t0009g0101 a0008c0038t0004g0233 a0010c0032t0025g0056 a0011c0033t0009g0177 a0012c0031t0003g0222 a0013c0029t0009g0251 a0014c0037t0035g0301 a0015c0021t0002g0081 a0016c0022t0002g0376	405	418	0.9689	0	c.138 others(4): Show c.1381G>A	p.Val others(6): Show p.Val461Met	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	9/15	1534/5296	1381/2247	461/748		chr10	TogoVar
CHCHD10_chr22_23760834_23772972	23767598	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	431	0.0023	0	c.42- others(4): Show c.42-5C>G		CHCHD10	ENSG00000250479.9	transcript	ENST00000484558.3	protein_coding	1/3					chr22	TogoVar
CHCHD10_chr22_23760834_23772972	23767600	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01884.hp1 HG01884.hp2 others(4): Show HG01109.hp1 HG01884.hp1 HG01884.hp2 HG02280.hp2 HG02486.hp2 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0054	7	431	0.0162	0	c.42- others(4): Show c.42-7C>G		CHCHD10	ENSG00000250479.9	transcript	ENST00000484558.3	protein_coding	1/3					chr22	TogoVar
CHCHD2_chr7_56096573_56111476	56104478	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	442	0.0023	0	c.51- others(4): Show c.51-3C>T		CHCHD2	ENSG00000106153.13	transcript	ENST00000395422.4	protein_coding	1/3					chr7	TogoVar
CHCHD4_chr3_14107077_14129870	14113201	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02895.hp2 HG02897.hp1 others(5): Show HG02572.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp2 HG03453.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0042 a0001c0001t0006g0075 others(2): Show a0001c0001t0006g0015 a0001c0001t0006g0042 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0082	8	416	0.0192	0	c.122 others(5): Show c.122-7G>A		CHCHD4	ENSG00000163528.13	transcript	ENST00000396914.4	protein_coding	2/2					chr3	TogoVar
CHCHD7_chr8_56206789_56223809	56214590	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18942.hp1 NA18983.hp2 NA18942.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	384	0.0052	0	c.-16 others(5): Show c.-16-8A>G		CHCHD7	ENSG00000170791.18	transcript	ENST00000355315.8	protein_coding	1/3					chr8	TogoVar
CHD1L_chr1_147237684_147300762	147259832	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02451.hp2 HG02717.hp1 others(5): Show HG02055.hp1 HG02451.hp2 HG02717.hp1 HG02886.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0029 a0001c0007t0001g0146 a0001c0007t0001g0147 others(4): Show a0001c0007t0001g0029 a0001c0007t0001g0146 a0001c0007t0001g0147 a0001c0007t0001g0148 a0001c0007t0001g0149 a0001c0007t0001g0151 a0001c0007t0001g0152	8	418	0.0191	1	c.495 others(6): Show c.495-4dupA		CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding	5/22				INFO_REALIGN_3_PRIME	chr1	TogoVar
CHD1L_chr1_147237684_147300762	147265932	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18970.hp2 NA18970.hp2	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0001 a0014c0020t0001	a0014c0020t0001g0325 a0014c0020t0001g0325	1	418	0.0024	0	c.740 others(3): Show c.740C>T	p.Ala others(6): Show p.Ala247Val	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding	8/23	760/2967	740/2694	247/897		chr1	TogoVar

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