Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02300.hp2 NA19003.hp2 HG00438.hp2 HG02300.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0211 a0001c0001t0001g0266 a0001c0001t0001g0137 a0001c0001t0001g0211 a0001c0001t0001g0266	3	384	0.0078	14	c.104 others(29): Show c.104-425_104-412dupTTTTTTTTTTTTTT		CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0356 a0005c0006t0002g0356	1	384	0.0026	14	c.960 others(31): Show c.960+1893_960+1906dupTTTTTTTTTTTTTT		CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19010.hp2 HG02055.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0197 a0001c0001t0001g0199	2	384	0.0052	14	c.137 others(33): Show c.1378-1510_1378-1497dupTTTTTTTTTTTTTT		CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(7): Show TGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG06807.hp1 HG03098.hp2 HG06807.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0005 a0005c0006t0013 a0001c0001t0005 a0005c0006t0013	a0001c0001t0005g0304 a0005c0006t0013g0293 a0001c0001t0005g0304 a0005c0006t0013g0293	2	346	0.0058	14	c.260 others(31): Show c.260-1750_260-1749insTGTGTGCGCGCGCG		CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(7): Show TGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20129.hp1 HG02486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0014 a0001c0001t0009g0039 a0001c0001t0003g0014 a0001c0001t0009g0039	2	346	0.0058	14	c.260 others(31): Show c.260-1750_260-1749insTGTGTGTGCGCGCG		CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp2 HG02976.hp1 HG02280.hp1 HG02818.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0034g0054 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0034g0054	3	346	0.0087	14	c.260 others(31): Show c.260-1750_260-1749insTGTGTGTGTGCGCG		CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHCHD3_chr7_132779870_133087090	132807606	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG03491.hp2 others(1): Show HG01074.hp2 HG01109.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0058 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0058 a0001c0001t0001g0072	4	310	0.0129	14	c.525 others(33): Show c.525-11043_525-11030dupATATATATATATAT		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7						chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG01516.hp1 others(15): Show HG00099.hp2 HG01106.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02080.hp2 HG02129.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG03225.hp2 HG03471.hp2 NA18612.hp1 NA18943.hp2 NA18964.hp2 NA18979.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0020 a0001c0001t0001g0146 a0001c0001t0001g0156 others(15): Show a0001c0001t0001g0020 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0186 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0285 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0004g0049	18	310	0.0581	14	c.369 others(33): Show c.369+19982_369+19995dupACACACACACACAC		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7						chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132963694	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(115): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01928.hp2 HG01975.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02630.hp2 HG02683.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0035 others(115): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0005g0308 a0001c0001t0006g0310 a0002c0002t0001g0248	118	310	0.3807	14	c.369 others(33): Show c.369+11461_369+11474dupGTGTGTGTGTGTGT		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7						chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132965059	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp1 HG02071.hp2 others(10): Show HG01109.hp2 HG01496.hp1 HG02071.hp2 HG02647.hp1 HG02723.hp2 HG02922.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 NA18966.hp1 NA19002.hp2 NA19074.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0253	13	310	0.0419	14	c.369 others(33): Show c.369+10096_369+10109dupCACACACACACACA		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7						chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132990951	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01074.hp1 others(13): Show HG00438.hp2 HG00544.hp2 HG01074.hp1 HG01123.hp1 HG01433.hp2 HG02027.hp2 HG02129.hp1 HG02622.hp1 HG03579.hp1 NA18747.hp2 NA18945.hp2 NA18947.hp1 NA18960.hp1 NA19007.hp2 NA19064.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0168 others(13): Show a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0221	16	310	0.0516	14	c.252 others(33): Show c.252-15679_252-15666dupGTGTGTGTGTGTGT		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7						chr7	TogoVar
CHCHD3_chr7_132779870_133087090	133027363	A A	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	310	0.0032	14	c.170 others(31): Show c.170-2750_170-2737dupCTCTCTCTCTCTCT		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	2/7						chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126737390	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02280.hp2 HG02630.hp2 others(2): Show HG02040.hp2 HG02280.hp2 HG02630.hp2 NA18939.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0113 a0002c0002t0001g0017 a0002c0002t0001g0018 others(2): Show a0001c0001t0001g0113 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0062	5	216	0.0232	14	c.411 others(31): Show c.411+4184_411+4197dupATATATATATATAT		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20905.hp1 HG03041.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0078 a0002c0002t0002g0097 a0002c0002t0001g0078 a0002c0002t0002g0097	2	216	0.0093	14	c.412 others(33): Show c.412-28079_412-28066dupAAAAAAAAAAAAAA		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126910273	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(105): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03471.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0005c0006t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(105): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0179 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0111 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0052 a0002c0002t0001g0056 a0002c0002t0001g0074 a0002c0002t0002g0094 a0005c0006t0001g0139	108	216	0.5000	14	c.496 others(31): Show c.496-4398_496-4385dupAAAAACAAAAAAAA		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126913207	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG03579.hp1 HG02280.hp2 HG02615.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0088 a0001c0001t0001g0113 a0001c0001t0001g0114	3	216	0.0139	14	c.496 others(31): Show c.496-1449_496-1436dupTTTTTTTTTTTTTT		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01081.hp2 others(14): Show HG00639.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01257.hp1 HG01346.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp2 HG02135.hp1 HG02735.hp1 HG02896.hp1 HG03239.hp2 NA18985.hp1 NA19076.hp2 NA19081.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0003 a0001c0014t0003 a0001c0001t0003 a0001c0014t0003	a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0204 others(13): Show a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0212 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0245 a0001c0014t0003g0230 a0001c0014t0003g0231	17	418	0.0407	14	c.34 others(25): Show c.3491_*3492insTTTTTTTTTTTTTT		CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding					3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98871369	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0045 a0002c0002t0024g0045	1	334	0.0030	14	c.386 others(31): Show c.3862-580_3862-567dupTTTTTTTTTTTTTT		CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	28/35						chr5	TogoVar
CHD1_chr5_98848985_98934007	98883826	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0254 a0001c0001t0026g0254	1	334	0.0030	14	c.256 others(31): Show c.2569-603_2569-590dupATATATATATATAT		CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35						chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(90): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01070.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03490.hp2 HG03491.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0004t0001 a0001c0005t0022 a0001c0009t0001 a0005c0008t0001	a0001c0001t0001g0044 a0001c0001t0001g0090 a0001c0001t0001g0091 others(90): Show a0001c0001t0001g0044 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0322 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0015g0040 a0001c0001t0015g0041 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0127 a0001c0004t0001g0130 a0001c0005t0022g0043 a0001c0009t0001g0276 a0005c0008t0001g0268	93	334	0.2784	14	c.53+ others(29): Show c.53+9034_53+9035insTTTTTTTTTTTTTT		CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35						chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(7): Show CCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 NA19240.hp2 others(1): Show HG00741.hp1 HG01243.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0003t0002g0227 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0003t0002g0227 a0001c0003t0002g0228	4	334	0.0120	14	c.53+ others(29): Show c.53+9034_53+9035insTTTTTTTTTTTTTG		CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35						chr5	TogoVar
CHD2_chr15_92895324_93032996	92993568	A A	AAGATATA others(7): Show AAGATATATAGGTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(77): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp1 HG02083.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02717.hp2 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03471.hp1 HG03654.hp1 HG03669.hp1 HG03831.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18983.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19010.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19068.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0021 others(1): Show a0001c0001 a0001c0005 a0001c0021 a0003c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0005t0007 a0001c0005t0015 a0001c0021t0001 a0003c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0027 others(76): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0155 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0002g0008 a0001c0001t0002g0085 a0001c0001t0006g0080 a0001c0001t0006g0084 a0001c0001t0020g0113 a0001c0001t0021g0074 a0001c0001t0022g0097 a0001c0001t0023g0052 a0001c0001t0024g0077 a0001c0001t0025g0104 a0001c0005t0007g0050 a0001c0005t0007g0090 a0001c0005t0015g0073 a0001c0021t0001g0119 a0003c0017t0001g0115	80	306	0.2614	14	c.359 others(31): Show c.3595+572_3595+573insATATATAGGTATAG		CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	28/38					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHD3_chr17_7883789_7917755	7884071	A A	AACACACA others(7): Show AACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	366	0.0027	14	c.-49 others(25): Show c.-4930_-4929insACACACACACACAC		CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding					4717		chr17	TogoVar
CHD3_chr17_7883789_7917755	7884446	T T	TTATATAT others(7): Show TTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18980.hp2 NA18949.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	366	0.0055	14	c.-45 others(25): Show c.-4555_-4554insTATATATATATATA		CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding					4342		chr17	TogoVar
CHD3_chr17_7883789_7917755	7884457	C C	CATATATA others(7): Show CATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG02015.hp2 others(13): Show HG00423.hp1 HG00673.hp2 HG02015.hp2 HG02523.hp1 NA18948.hp2 NA18951.hp1 NA18963.hp1 NA18991.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19055.hp1 NA19055.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0041 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0136 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0006t0001g0165 a0001c0006t0001g0191	16	366	0.0437	14	c.-45 others(25): Show c.-4544_-4543insATATATATATATAT		CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding					4331		chr17	TogoVar
CHD5_chr1_6096787_6185321	6160092	A A	AGGGCCCC others(7): Show AGGGCCCCAGCAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0052 a0002c0012t0052	a0002c0012t0052g0045 a0002c0012t0052g0045	1	320	0.0031	14	c.208 others(29): Show c.208-578_208-577insCCTTGCTGGGGCCC		CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41						chr1	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	324	0.0031	14	c.612 others(31): Show c.6127+940_6127+953dupTTTTTTTTTTTTTT		CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36						chr20	TogoVar
CHD6_chr20_41397083_41623377	41431776	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00597.hp2 others(51): Show HG00099.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01981.hp1 HG02083.hp1 HG02132.hp1 HG02165.hp2 HG02258.hp1 HG02523.hp1 HG02895.hp2 HG02922.hp1 HG03041.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18985.hp1 NA18992.hp1 NA18998.hp2 NA19012.hp2 NA19030.hp2 NA19063.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0012 others(4): Show a0001 a0003 a0012 a0015 a0016 a0017 a0019	a0001c0001 a0003c0027 a0012c0022 others(4): Show a0001c0001 a0003c0027 a0012c0022 a0015c0019 a0016c0014 a0017c0017 a0019c0025	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0003c0027t0001 a0012c0022t0001 a0015c0019t0001 a0016c0014t0001 a0017c0017t0005 a0019c0025t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(51): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0003g0056 a0001c0001t0003g0070 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0005g0039 a0001c0001t0005g0047 a0001c0001t0009g0075 a0003c0027t0001g0003 a0012c0022t0001g0009 a0015c0019t0001g0069 a0016c0014t0001g0035 a0017c0017t0005g0033 a0019c0025t0001g0024	54	324	0.1667	14	c.406 others(33): Show c.4068+5484_4068+5497dupAAAAAAAAAAAAAA		CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	27/36						chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02970.hp1 NA19058.hp1 HG02056.hp1 HG02970.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0002t0001g0052 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0002t0001g0052	3	324	0.0093	14	c.853 others(31): Show c.853-4734_853-4721dupTTTTTTTTTTTTTT		CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36						chr20	TogoVar
CHD6_chr20_41397083_41623377	41559147	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0001 a0003c0027t0001	a0003c0027t0001g0003 a0003c0027t0001g0003	1	324	0.0031	14	c.-23 others(31): Show c.-23-7801_-23-7788dupGTGTGTGTGTGTGT		CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	1/36						chr20	TogoVar
CHD6_chr20_41397083_41623377	41579437	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	324	0.0031	14	c.-23 others(33): Show c.-23-28091_-23-28078dupTTTTTTTTTTTTTT		CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	1/36						chr20	TogoVar
CHD7_chr8_60673740_60873028	60816113	G G	GTCTCTCT others(7): Show GTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0111 a0001c0002t0005g0111	1	236	0.0042	14	c.249 others(31): Show c.2499-246_2499-233dupCTCTCTCTCTCTCT		CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	7/37					INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60816113	G G	GTCTGTCT others(7): Show GTCTGTCTGTCTCTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0100 a0001c0001t0013g0100	1	236	0.0042	14	c.249 others(31): Show c.2499-271_2499-270insGTCTGTCTCTCTCT		CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	7/37					INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD9NB_chr16_53036484_53057897	53049322	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp1 HG02145.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0040 a0001c0001t0023 a0001c0001t0040	a0001c0001t0023g0057 a0001c0001t0040g0117 a0001c0001t0023g0057 a0001c0001t0040g0117	2	406	0.0049	14	c.-18 others(33): Show c.-184-2053_-184-2040dupCACACACACACACA		CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	1/2						chr16	TogoVar
CHD9NB_chr16_53036484_53057897	53051768	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	406	0.0025	14	c.-18 others(31): Show c.-185+979_-185+992dupATATATATATATAT		CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	1/2						chr16	TogoVar
CHD9_chr16_53049991_53332497	53051768	A A	AATATATA others(7): Show AATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	238	0.0042	14	c.-34 others(25): Show c.-3474_-3473insATATATATATATAT		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding					3222		chr16	TogoVar
CHD9_chr16_53049991_53332497	53063358	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0029 a0001c0003t0002g0029	1	238	0.0042	14	c.-16 others(33): Show c.-165+8312_-165+8325dupCACACACACACACA		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHDH_chr3_53807335_53851419	53810758	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02976.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0021 a0001c0001t0010 a0001c0001t0021	a0001c0001t0010g0002 a0001c0001t0021g0028 a0001c0001t0021g0227 a0001c0001t0010g0002 a0001c0001t0021g0028 a0001c0001t0021g0227	4	392	0.0102	14	c.70 others(25): Show c.7005_*7018dupTTTTTTTTTTTTTT		CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding					1576		chr3	TogoVar
CHDH_chr3_53807335_53851419	53828162	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01943.hp1 HG01978.hp1 others(7): Show HG01123.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02300.hp2 HG04204.hp1 NA18522.hp1 NA18983.hp1 NA18994.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0170 a0002c0002t0003 a0002c0002t0039 others(3): Show a0001c0003t0170 a0002c0002t0003 a0002c0002t0039 a0002c0002t0042 a0002c0002t0061 a0002c0002t0116	a0001c0003t0170g0326 a0002c0002t0003g0023 a0002c0002t0003g0085 others(6): Show a0001c0003t0170g0326 a0002c0002t0003g0023 a0002c0002t0003g0085 a0002c0002t0003g0279 a0002c0002t0003g0281 a0002c0002t0039g0187 a0002c0002t0042g0188 a0002c0002t0061g0076 a0002c0002t0116g0189	10	392	0.0255	14	c.-59 others(31): Show c.-59-4109_-59-4096dupGTGTGTGTGTGTGT		CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	2/8						chr3	TogoVar
CHDH_chr3_53807335_53851419	53830402	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18906.hp1 HG02630.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0160 a0001c0003t0161 a0001c0003t0160 a0001c0003t0161	a0001c0003t0160g0218 a0001c0003t0161g0217 a0001c0003t0160g0218 a0001c0003t0161g0217	2	392	0.0051	14	c.-59 others(31): Show c.-59-6349_-59-6336dupTATATATATATATA		CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	2/8						chr3	TogoVar
CHEK2_chr22_28682743_28746820	28698228	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(62): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00733.hp1 HG01106.hp1 HG01168.hp2 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02080.hp2 HG02258.hp1 HG02486.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19065.hp2 NA19068.hp2 NA19084.hp2 NA19085.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0009c0011 a0010c0013 a0001c0001 a0009c0011 a0010c0013	a0001c0001t0001 a0009c0011t0001 a0010c0013t0001 a0001c0001t0001 a0009c0011t0001 a0010c0013t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0017 others(62): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0322 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0351 a0009c0011t0001g0301 a0010c0013t0001g0198	65	384	0.1693	14	c.100 others(33): Show c.1009-1255_1009-1242dupTTTTTTTTTTTTTT		CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	9/14						chr22	TogoVar
CHEK2_chr22_28682743_28746820	28702135	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG01943.hp1 others(12): Show HG01074.hp2 HG01243.hp1 HG01943.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02896.hp1 HG03516.hp2 HG03710.hp2 NA18906.hp1 NA18947.hp1 NA18947.hp2 NA18954.hp2 NA19062.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0168 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0299 a0001c0001t0001g0330 a0004c0007t0001g0297	15	384	0.0391	14	c.908 others(31): Show c.908+1356_908+1369dupCACACACACACACA		CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	8/14						chr22	TogoVar
CHEK2_chr22_28682743_28746820	28708361	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	384	0.0026	14	c.846 others(31): Show c.846+1644_846+1645insCACACACACACACA		CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14						chr22	TogoVar
CHEK2_chr22_28682743_28746820	28708363	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01074.hp1 others(6): Show HG00735.hp1 HG01069.hp1 HG01074.hp1 HG01515.hp1 HG01517.hp1 HG01993.hp2 HG02004.hp2 HG03139.hp1 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0009 a0001c0001t0001g0068 a0001c0001t0001g0070 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0377 a0007c0010t0001g0375	9	384	0.0234	14	c.846 others(31): Show c.846+1629_846+1642dupCACACACACACACA		CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14						chr22	TogoVar
CHEK2_chr22_28682743_28746820	28729540	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	384	0.0026	14	c.320 others(31): Show c.320-4187_320-4174dupTTTTTTTTTTTTTT		CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14						chr22	TogoVar
CHFR_chr12_132827356_132892605	132829922	A A	ATGTATGA others(7): Show ATGTATGAATGAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): 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 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 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 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.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 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0004 a0001c0012 others(17): Show a0001c0001 a0001c0004 a0001c0012 a0001c0018 a0001c0019 a0002c0002 a0002c0007 a0002c0013 a0002c0015 a0003c0003 a0003c0008 a0004c0006 a0005c0020 a0005c0021 a0006c0009 a0007c0017 a0008c0014 a0009c0016 a0010c0010 a0011c0011	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 others(152): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0004t0003 a0001c0004t0007 a0001c0004t0017 a0001c0004t0018 a0001c0004t0022 a0001c0004t0034 a0001c0004t0035 a0001c0004t0036 a0001c0004t0056 a0001c0004t0058 a0001c0004t0059 a0001c0004t0060 a0001c0012t0033 a0001c0018t0003 a0001c0019t0017 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0048 a0002c0002t0049 a0002c0002t0120 a0002c0002t0121 a0002c0002t0122 a0002c0002t0123 a0002c0002t0125 a0002c0002t0126 a0002c0002t0127 a0002c0002t0128 a0002c0002t0129 a0002c0002t0130 a0002c0002t0132 a0002c0002t0133 a0002c0002t0136 a0002c0002t0137 a0002c0002t0138 a0002c0002t0139 a0002c0002t0140 a0002c0002t0141 a0002c0002t0142 a0002c0007t0002 a0002c0013t0124 a0002c0015t0005 a0003c0003t0001 a0003c0003t0013 a0003c0003t0019 a0003c0003t0020 a0003c0003t0037 a0003c0003t0061 a0003c0003t0062 a0003c0003t0063 a0003c0003t0064 a0003c0003t0065 a0003c0003t0066 a0003c0003t0067 a0003c0003t0068 a0003c0003t0069 a0003c0008t0019 a0004c0006t0031 a0004c0006t0032 a0004c0006t0131 a0004c0006t0134 a0004c0006t0135 a0005c0020t0045 a0005c0021t0057 a0006c0009t0054 a0006c0009t0055 a0007c0017t0002 a0008c0014t0071 a0009c0016t0003 a0010c0010t0010 a0011c0011t0015	a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 others(338): Show a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0145 a0001c0001t0006g0147 a0001c0001t0006g0150 a0001c0001t0006g0152 a0001c0001t0008g0012 a0001c0001t0008g0239 a0001c0001t0008g0255 a0001c0001t0008g0265 a0001c0001t0008g0285 a0001c0001t0008g0303 a0001c0001t0008g0305 a0001c0001t0009g0005 a0001c0001t0009g0030 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0010g0235 a0001c0001t0010g0257 a0001c0001t0010g0258 a0001c0001t0010g0276 a0001c0001t0010g0288 a0001c0001t0010g0309 a0001c0001t0011g0013 a0001c0001t0011g0242 a0001c0001t0011g0247 a0001c0001t0011g0263 a0001c0001t0011g0286 a0001c0001t0011g0289 a0001c0001t0012g0002 a0001c0001t0012g0123 a0001c0001t0012g0125 a0001c0001t0012g0148 a0001c0001t0012g0168 a0001c0001t0014g0004 a0001c0001t0014g0277 a0001c0001t0014g0278 a0001c0001t0014g0279 a0001c0001t0015g0234 a0001c0001t0015g0246 a0001c0001t0015g0293 a0001c0001t0015g0297 a0001c0001t0015g0299 a0001c0001t0016g0233 a0001c0001t0016g0248 a0001c0001t0016g0249 a0001c0001t0016g0250 a0001c0001t0016g0301 a0001c0001t0023g0001 a0001c0001t0025g0241 a0001c0001t0025g0254 a0001c0001t0025g0261 a0001c0001t0026g0015 a0001c0001t0026g0270 a0001c0001t0027g0014 a0001c0001t0027g0306 a0001c0001t0033g0129 a0001c0001t0033g0149 a0001c0001t0040g0252 a0001c0001t0040g0264 a0001c0001t0041g0256 a0001c0001t0041g0304 a0001c0001t0042g0274 a0001c0001t0042g0275 a0001c0001t0043g0016 a0001c0001t0044g0017 a0001c0001t0050g0130 a0001c0001t0050g0136 a0001c0001t0051g0146 a0001c0001t0051g0153 a0001c0001t0052g0169 a0001c0001t0052g0170 a0001c0001t0053g0141 a0001c0001t0053g0151 a0001c0001t0072g0353 a0001c0001t0073g0032 a0001c0001t0074g0034 a0001c0001t0079g0244 a0001c0001t0080g0236 a0001c0001t0081g0251 a0001c0001t0082g0245 a0001c0001t0083g0271 a0001c0001t0084g0291 a0001c0001t0085g0284 a0001c0001t0086g0298 a0001c0001t0087g0280 a0001c0001t0088g0268 a0001c0001t0089g0281 a0001c0001t0090g0038 a0001c0001t0091g0064 a0001c0001t0092g0238 a0001c0001t0093g0283 a0001c0001t0094g0269 a0001c0001t0095g0294 a0001c0001t0096g0292 a0001c0001t0097g0282 a0001c0001t0098g0295 a0001c0001t0099g0237 a0001c0001t0100g0296 a0001c0001t0101g0302 a0001c0001t0102g0307 a0001c0001t0103g0273 a0001c0001t0104g0308 a0001c0001t0105g0272 a0001c0001t0106g0290 a0001c0001t0107g0240 a0001c0001t0108g0253 a0001c0001t0109g0300 a0001c0001t0110g0262 a0001c0001t0111g0259 a0001c0001t0112g0232 a0001c0001t0113g0260 a0001c0001t0114g0287 a0001c0001t0115g0266 a0001c0001t0116g0310 a0001c0001t0117g0231 a0001c0001t0118g0267 a0001c0001t0119g0035 a0001c0001t0143g0124 a0001c0001t0144g0127 a0001c0001t0145g0311 a0001c0001t0146g0131 a0001c0001t0147g0133 a0001c0001t0148g0143 a0001c0001t0149g0142 a0001c0001t0150g0144 a0001c0001t0151g0140 a0001c0001t0152g0154 a0001c0001t0153g0155 a0001c0004t0003g0003 a0001c0004t0003g0010 a0001c0004t0003g0188 a0001c0004t0003g0189 a0001c0004t0003g0190 a0001c0004t0003g0191 a0001c0004t0003g0194 a0001c0004t0003g0197 a0001c0004t0003g0198 a0001c0004t0003g0199 a0001c0004t0003g0200 a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0204 a0001c0004t0003g0224 a0001c0004t0003g0225 a0001c0004t0003g0226 a0001c0004t0003g0227 a0001c0004t0007g0011 a0001c0004t0007g0214 a0001c0004t0007g0215 a0001c0004t0007g0216 a0001c0004t0007g0217 a0001c0004t0007g0218 a0001c0004t0007g0223 a0001c0004t0017g0219 a0001c0004t0017g0220 a0001c0004t0017g0221 a0001c0004t0018g0086 a0001c0004t0018g0208 a0001c0004t0018g0209 a0001c0004t0018g0212 a0001c0004t0022g0193 a0001c0004t0022g0203 a0001c0004t0022g0228 a0001c0004t0034g0195 a0001c0004t0034g0196 a0001c0004t0035g0210 a0001c0004t0035g0213 a0001c0004t0036g0206 a0001c0004t0036g0207 a0001c0004t0056g0211 a0001c0004t0058g0187 a0001c0004t0059g0192 a0001c0004t0060g0229 a0001c0012t0033g0128 a0001c0018t0003g0205 a0001c0019t0017g0222 a0002c0002t0002g0008 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0054 a0002c0002t0002g0061 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0122 a0002c0002t0004g0006 a0002c0002t0004g0053 a0002c0002t0004g0069 a0002c0002t0004g0073 a0002c0002t0004g0075 a0002c0002t0004g0077 a0002c0002t0004g0108 a0002c0002t0004g0110 a0002c0002t0004g0111 a0002c0002t0004g0120 a0002c0002t0004g0165 a0002c0002t0004g0166 a0002c0002t0005g0007 a0002c0002t0005g0070 a0002c0002t0005g0087 a0002c0002t0005g0088 a0002c0002t0005g0090 a0002c0002t0005g0092 a0002c0002t0005g0093 a0002c0002t0005g0099 a0002c0002t0005g0107 a0002c0002t0005g0112 a0002c0002t0005g0114 a0002c0002t0028g0055 a0002c0002t0028g0056 a0002c0002t0028g0059 a0002c0002t0029g0078 a0002c0002t0029g0097 a0002c0002t0029g0167 a0002c0002t0030g0101 a0002c0002t0030g0102 a0002c0002t0030g0103 a0002c0002t0045g0074 a0002c0002t0046g0082 a0002c0002t0046g0083 a0002c0002t0047g0009 a0002c0002t0048g0039 a0002c0002t0048g0043 a0002c0002t0049g0041 a0002c0002t0049g0042 a0002c0002t0120g0091 a0002c0002t0121g0060 a0002c0002t0122g0057 a0002c0002t0123g0109 a0002c0002t0125g0065 a0002c0002t0126g0117 a0002c0002t0127g0076 a0002c0002t0128g0050 a0002c0002t0129g0119 a0002c0002t0130g0095 a0002c0002t0132g0046 a0002c0002t0133g0040 a0002c0002t0136g0085 a0002c0002t0137g0066 a0002c0002t0138g0089 a0002c0002t0139g0062 a0002c0002t0140g0096 a0002c0002t0141g0084 a0002c0002t0142g0067 a0002c0007t0002g0063 a0002c0007t0002g0068 a0002c0013t0124g0058 a0002c0015t0005g0121 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0001g0319 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0329 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0336 a0003c0003t0001g0338 a0003c0003t0001g0340 a0003c0003t0001g0341 a0003c0003t0001g0342 a0003c0003t0001g0343 a0003c0003t0001g0344 a0003c0003t0001g0345 a0003c0003t0001g0354 a0003c0003t0001g0355 a0003c0003t0001g0356 a0003c0003t0001g0357 a0003c0003t0013g0021 a0003c0003t0013g0022 a0003c0003t0013g0024 a0003c0003t0013g0025 a0003c0003t0013g0026 a0003c0003t0013g0027 a0003c0003t0019g0347 a0003c0003t0019g0352 a0003c0003t0020g0320 a0003c0003t0020g0321 a0003c0003t0020g0323 a0003c0003t0020g0325 a0003c0003t0037g0348 a0003c0003t0037g0349 a0003c0003t0061g0020 a0003c0003t0062g0029 a0003c0003t0063g0346 a0003c0003t0064g0028 a0003c0003t0065g0023 a0003c0003t0066g0339 a0003c0003t0067g0337 a0003c0003t0068g0322 a0003c0003t0069g0324 a0003c0008t0019g0350 a0003c0008t0019g0351 a0004c0006t0031g0161 a0004c0006t0031g0162 a0004c0006t0031g0163 a0004c0006t0032g0156 a0004c0006t0032g0159 a0004c0006t0032g0160 a0004c0006t0131g0158 a0004c0006t0134g0157 a0004c0006t0135g0164 a0005c0020t0045g0312 a0005c0021t0057g0313 a0006c0009t0054g0118 a0006c0009t0055g0106 a0007c0017t0002g0048 a0008c0014t0071g0019 a0009c0016t0003g0230 a0010c0010t0010g0018 a0011c0011t0015g0243	362	378	0.9577	14	c.11 others(27): Show c.11631_*11632insGTTTCATTCATACA		CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding					2433		chr12	TogoVar
CHGB_chr20_5906510_5930353	5918163	A A	AACAAACA others(7): Show AACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02976.hp1 others(1): Show HG01884.hp1 HG02055.hp1 HG02976.hp1 HG03453.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0049 a0007c0007t0001g0140 a0007c0007t0001g0141 a0007c0007t0001g0049 a0007c0007t0001g0140 a0007c0007t0001g0141	4	440	0.0091	14	c.190 others(31): Show c.190+1245_190+1246insCAAACAAACAAACA		CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
CHI3L2_chr1_111222713_111248440	111229681	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG00738.hp2 others(20): Show HG00621.hp1 HG00738.hp1 HG00738.hp2 HG01123.hp2 HG01261.hp1 HG01361.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02145.hp1 HG02273.hp2 HG03139.hp1 HG03654.hp1 NA18943.hp2 NA18969.hp1 NA18975.hp1 NA18989.hp1 NA18998.hp1 NA19066.hp2 NA19082.hp1 NA19087.hp2 NA20752.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0003 a0004c0006 a0007c0008 a0002c0003 a0004c0006 a0007c0008	a0002c0003t0001 a0004c0006t0005 a0007c0008t0001 a0002c0003t0001 a0004c0006t0005 a0007c0008t0001	a0002c0003t0001g0005 a0002c0003t0001g0020 a0002c0003t0001g0112 others(3): Show a0002c0003t0001g0005 a0002c0003t0001g0020 a0002c0003t0001g0112 a0002c0003t0001g0114 a0004c0006t0005g0024 a0007c0008t0001g0113	23	434	0.0530	14	c.41- others(27): Show c.41-160_41-147dupAAAAAAAAAAAAAA		CHI3L2	ENSG00000064886.14	transcript	ENST00000369748.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHIA_chr1_111285851_111325563	111319160	A A	ATACCCCT others(7): Show ATACCCCTCAGGAAG	frameshift_variant frameshift_variant	HIGH	NA19043.hp2 NA19043.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0005 a0018c0023t0005	a0018c0023t0005g0140 a0018c0023t0005g0140	1	426	0.0024	14	c.957 others(21): Show c.957_958insACCCCTCAGGAAGT	p.Ala others(5): Show p.Ala320fs	CHIA	ENSG00000134216.19	transcript	ENST00000369740.6	protein_coding	10/12	1126/1696	958/1431	320/476		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHIA_chr1_111285851_111325563	111319160	A A	ATGCCCCT others(7): Show ATGCCCCTCAGGAAG	frameshift_variant frameshift_variant	HIGH	HG02257.hp2 HG02486.hp1 HG02818.hp1 others(1): Show HG02257.hp2 HG02486.hp1 HG02818.hp1 HG02965.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0110 a0008c0011t0002g0245 a0008c0011t0002g0260 others(1): Show a0008c0011t0002g0110 a0008c0011t0002g0245 a0008c0011t0002g0260 a0008c0011t0002g0262	4	426	0.0094	14	c.961 others(21): Show c.961_974dupCCTCAGGAAGTGCC	p.Tyr others(5): Show p.Tyr326fs	CHIA	ENSG00000134216.19	transcript	ENST00000369740.6	protein_coding	10/12	1143/1696	975/1431	325/476		INFO_REALIGN_3_PRIME	chr1	TogoVar

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