Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HPN_chr19_35036721_35071573	35064318	G G	GTCTCTCT others(1): Show GTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03516.hp1 NA20300.hp1 HG03471.hp1 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0049 a0001c0001t0002g0270 a0001c0001t0002g0272	3	384	0.0078	8	c.812 others(23): Show c.812-918_812-911dupCTCTCTCT	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPRT1_chrX_134455165_134505668	134467041	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	276	0.0036	8	c.28- others(23): Show c.28-6304_28-6297dupTTTTTTTT	HPRT1	ENSG00000165704.15	transcript	ENST00000298556.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
HPRT1_chrX_134455165_134505668	134481505	C C	CTCTATCT others(1): Show CTCTATCTA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp1 HG01952.hp1 others(10): Show HG01192.hp1 HG01261.hp1 HG01952.hp1 HG01993.hp2 HG02896.hp1 HG02922.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp1 HG06807.hp1 NA18949.hp1 NA18956.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0035 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0096 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0149 a0001c0001t0001g0213 a0001c0001t0001g0218	13	276	0.0471	8	c.319 others(25): Show c.319-4911_319-4904dupTCTATCTA	HPRT1	ENSG00000165704.15	transcript	ENST00000298556.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
HPS1_chr10_98411198_98451935	98421979	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01168.hp1 HG01169.hp1 others(12): Show HG00673.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01891.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp1 NA18968.hp2 NA18974.hp2 NA18986.hp2 NA19084.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0009	a0001c0005 a0002c0003 a0003c0010 others(4): Show a0001c0005 a0002c0003 a0003c0010 a0004c0007 a0005c0015 a0009c0030 a0009c0036	a0001c0005t0005 a0002c0003t0006 a0003c0010t0005 others(4): Show a0001c0005t0005 a0002c0003t0006 a0003c0010t0005 a0004c0007t0001 a0005c0015t0005 a0009c0030t0005 a0009c0036t0005	a0001c0005t0005g0014 a0002c0003t0006g0017 a0002c0003t0006g0047 others(6): Show a0001c0005t0005g0014 a0002c0003t0006g0017 a0002c0003t0006g0047 a0002c0003t0006g0282 a0003c0010t0005g0193 a0004c0007t0001g0226 a0005c0015t0005g0049 a0009c0030t0005g0317 a0009c0036t0005g0320	15	434	0.0346	8	c.174 others(25): Show c.1743+382_1743+389dupGTGTGTGT	HPS1	ENSG00000107521.21	transcript	ENST00000361490.9	protein_coding	17/19			chr10	TogoVar
HPS1_chr10_98411198_98451935	98449881	T T	TTGTGTGT others(1): Show TTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(87): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01243.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02155.hp1 HG02273.hp1 HG02451.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03834.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0017 a0019	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0006 a0003c0004 a0004c0007 a0006c0011 a0017c0027 a0019c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0039 a0001c0002t0002 a0001c0002t0003 a0001c0002t0033 a0001c0005t0005 a0002c0003t0006 a0002c0006t0005 a0002c0006t0008 a0003c0004t0001 a0003c0004t0003 a0003c0004t0012 a0004c0007t0004 a0006c0011t0001 a0017c0027t0001 a0019c0029t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(67): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0162 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0003g0015 a0001c0001t0003g0221 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0001t0003g0253 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0304 a0001c0001t0004g0064 a0001c0001t0004g0146 a0001c0001t0005g0247 a0001c0001t0007g0204 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0219 a0001c0001t0015g0202 a0001c0001t0039g0343 a0001c0002t0002g0005 a0001c0002t0002g0062 a0001c0002t0002g0140 a0001c0002t0003g0028 a0001c0002t0003g0227 a0001c0002t0033g0169 a0001c0005t0005g0014 a0001c0005t0005g0245 a0001c0005t0005g0331 a0002c0003t0006g0282 a0002c0003t0006g0283 a0002c0006t0005g0257 a0002c0006t0008g0321 a0003c0004t0001g0032 a0003c0004t0003g0189 a0003c0004t0012g0029 a0004c0007t0004g0085 a0006c0011t0001g0200 a0006c0011t0001g0215 a0017c0027t0001g0261 a0019c0029t0001g0191	90	434	0.2074	8	c.-31 others(19): Show c.-3181_-3180insCACACACA	HPS1	ENSG00000107521.21	transcript	ENST00000361490.9	protein_coding		2947		chr10	TogoVar
HPS1_chr10_98411198_98451935	98451227	C C	CTCTATCT others(1): Show CTCTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02004.hp2 NA18991.hp2 HG01243.hp2 HG02004.hp2 NA18991.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0004 a0004c0012 a0002c0003 a0003c0004 a0004c0012	a0002c0003t0006 a0003c0004t0003 a0004c0012t0004 a0002c0003t0006 a0003c0004t0003 a0004c0012t0004	a0002c0003t0006g0271 a0003c0004t0003g0021 a0004c0012t0004g0137 a0002c0003t0006g0271 a0003c0004t0003g0021 a0004c0012t0004g0137	3	434	0.0069	8	c.-45 others(19): Show c.-4527_-4526insTAGATAGA	HPS1	ENSG00000107521.21	transcript	ENST00000361490.9	protein_coding		4293		chr10	TogoVar
HPS3_chr3_149124638_149178732	149151587	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01884.hp1 HG03516.hp2 others(5): Show HG01346.hp2 HG01884.hp1 HG03516.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0008 a0001c0002t0017 others(2): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0017 a0001c0005t0005 a0001c0005t0023	a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0008g0048 others(5): Show a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0008g0048 a0001c0002t0008g0058 a0001c0002t0008g0060 a0001c0002t0017g0059 a0001c0005t0005g0135 a0001c0005t0023g0073	8	392	0.0204	8	c.124 others(25): Show c.1245+929_1245+936dupAAAAAAAA	HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
HPS3_chr3_149124638_149178732	149169038	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01884.hp2 others(6): Show HG01243.hp2 HG01255.hp1 HG01884.hp2 HG02109.hp1 HG02965.hp2 HG03041.hp1 HG03471.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0012 a0001c0005t0010 a0001c0005t0012 others(3): Show a0001c0002t0012 a0001c0005t0010 a0001c0005t0012 a0001c0005t0014 a0001c0005t0028 a0001c0005t0031	a0001c0002t0012g0127 a0001c0005t0010g0289 a0001c0005t0012g0016 others(6): Show a0001c0002t0012g0127 a0001c0005t0010g0289 a0001c0005t0012g0016 a0001c0005t0012g0290 a0001c0005t0012g0293 a0001c0005t0014g0016 a0001c0005t0014g0292 a0001c0005t0028g0016 a0001c0005t0031g0287	9	392	0.0230	8	c.288 others(27): Show c.2887+1068_2887+1075dupGTGTGTGT	HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
HPS3_chr3_149124638_149178732	149172318	T T	TCACACAC others(1): Show TCACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG01255.hp1 HG01433.hp1 others(14): Show HG00738.hp2 HG01255.hp1 HG01433.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG02896.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03471.hp2 HG03491.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0006 a0001c0002t0006 a0001c0002t0010 others(3): Show a0001c0001t0006 a0001c0002t0006 a0001c0002t0010 a0001c0004t0006 a0001c0005t0006 a0001c0005t0010	a0001c0001t0006g0203 a0001c0002t0006g0044 a0001c0002t0006g0146 others(14): Show a0001c0001t0006g0203 a0001c0002t0006g0044 a0001c0002t0006g0146 a0001c0002t0006g0147 a0001c0002t0006g0148 a0001c0002t0006g0155 a0001c0002t0006g0156 a0001c0002t0006g0157 a0001c0002t0010g0041 a0001c0002t0010g0042 a0001c0002t0010g0043 a0001c0002t0010g0046 a0001c0004t0006g0021 a0001c0005t0006g0023 a0001c0005t0006g0134 a0001c0005t0006g0291 a0001c0005t0010g0289	17	392	0.0434	8	c.12 others(17): Show c.127_*134dupCACACACA	HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding	17/17	135	INFO_REALIGN_3_PRIME	chr3	TogoVar
HPS3_chr3_149124638_149178732	149172318	T T	TCTCACAC others(1): Show TCTCACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp2 others(9): Show HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG02738.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0008 a0001c0002t0008 a0001c0004t0008 a0001c0001t0008 a0001c0002t0008 a0001c0004t0008	a0001c0001t0008g0083 a0001c0002t0008g0048 a0001c0002t0008g0049 others(9): Show a0001c0001t0008g0083 a0001c0002t0008g0048 a0001c0002t0008g0049 a0001c0002t0008g0051 a0001c0002t0008g0056 a0001c0002t0008g0057 a0001c0002t0008g0058 a0001c0002t0008g0060 a0001c0002t0008g0061 a0001c0002t0008g0183 a0001c0002t0008g0184 a0001c0004t0008g0097	12	392	0.0306	8	c.97 others(15): Show c.97_*98insTCACACAC	HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding	17/17	98	INFO_REALIGN_3_PRIME	chr3	TogoVar
HPS5_chr11_18273676_18327140	18314530	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00609.hp1 others(49): Show HG00280.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG03471.hp2 HG03688.hp2 HG03831.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18955.hp1 NA18956.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18972.hp1 NA18973.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19002.hp2 NA19006.hp2 NA19010.hp1 NA19056.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp1 NA19089.hp1 NA19091.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0018 a0006c0006 a0001c0001 a0001c0018 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0018t0002 a0006c0006t0002	a0001c0001t0001g0244 a0001c0001t0002g0012 a0001c0001t0002g0013 others(47): Show a0001c0001t0001g0244 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0206 a0001c0001t0002g0243 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0007g0242 a0001c0018t0002g0188 a0006c0006t0002g0254 a0006c0006t0002g0258	52	372	0.1398	8	c.109 others(25): Show c.109-2514_109-2507dupATTTATTT	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	2/22			chr11	TogoVar
HPS5_chr11_18273676_18327140	18319255	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02258.hp1 HG02451.hp1 others(14): Show HG02083.hp2 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02717.hp2 HG02818.hp1 HG02922.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18612.hp2 NA18985.hp2 NA18993.hp2 NA19075.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0330 a0001c0001t0005g0307 a0001c0001t0005g0308 others(14): Show a0001c0001t0001g0330 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0004t0001g0298 a0001c0004t0001g0299 a0001c0004t0001g0300 a0001c0004t0001g0301 a0001c0004t0001g0302 a0001c0004t0001g0303 a0001c0004t0001g0304 a0002c0002t0001g0198 a0002c0002t0001g0240 a0002c0002t0002g0199 a0002c0002t0002g0201 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0003g0200	17	372	0.0457	8	c.-49 others(25): Show c.-49-1356_-49-1349dupTGTGTGTG	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	1/22			chr11	TogoVar
HPSE2_chr10_98452077_99240852	98470102	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01109.hp1 HG01884.hp1 others(11): Show HG00438.hp1 HG01109.hp1 HG01884.hp1 HG02083.hp2 HG02622.hp1 HG02886.hp1 HG02965.hp1 HG03579.hp1 HG03710.hp2 NA18968.hp1 NA18977.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0030 a0002c0002t0015 a0002c0002t0020 a0003c0003t0003	a0001c0001t0003g0077 a0001c0001t0003g0131 a0001c0001t0003g0135 others(11): Show a0001c0001t0003g0077 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0005g0027 a0001c0001t0005g0091 a0001c0001t0005g0093 a0001c0001t0009g0049 a0001c0001t0009g0057 a0001c0001t0009g0122 a0001c0001t0028g0097 a0001c0001t0030g0108 a0002c0002t0015g0002 a0002c0002t0020g0139 a0003c0003t0003g0111	14	142	0.0986	8	c.161 others(29): Show c.1614-10371_1614-10364dupACACACAC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	11/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98473532	G G	GAGAAAGA others(1): Show GAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01981.hp1 HG02129.hp2 others(16): Show HG01255.hp1 HG01981.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02809.hp2 HG03490.hp1 HG03490.hp2 HG03654.hp1 NA18939.hp1 NA18946.hp1 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18982.hp2 NA19003.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0002c0002t0021 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0038 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0003g0069 a0001c0001t0003g0114 a0001c0001t0006g0107 a0001c0001t0009g0103 a0001c0001t0017g0053 a0001c0001t0017g0054 a0002c0002t0021g0099 a0003c0003t0001g0073 a0005c0005t0001g0085	19	142	0.1338	8	c.161 others(27): Show c.1613+9096_1613+9103dupTTCTTTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	11/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98511555	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01981.hp1 others(7): Show HG00597.hp2 HG00673.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02257.hp1 HG06807.hp1 NA18939.hp1 NA18968.hp1 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0002c0002t0002 a0002c0002t0010 a0002c0002t0018	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0001t0003g0135 a0001c0001t0017g0054 a0002c0002t0002g0016 a0002c0002t0010g0021 a0002c0002t0018g0044	10	142	0.0704	8	c.132 others(29): Show c.1321-21367_1321-21360dupACACACAC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98567748	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG02965.hp1 others(4): Show HG02622.hp2 HG02723.hp2 HG02965.hp1 HG03209.hp1 HG03579.hp2 NA18906.hp1 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0027 a0002c0002t0002 a0002c0002t0007 a0004c0004t0002	a0001c0001t0003g0077 a0001c0001t0005g0066 a0001c0001t0008g0084 others(4): Show a0001c0001t0003g0077 a0001c0001t0005g0066 a0001c0001t0008g0084 a0001c0001t0027g0003 a0002c0002t0002g0061 a0002c0002t0007g0010 a0004c0004t0002g0098	7	142	0.0493	8	c.132 others(29): Show c.1320+47148_1320+47155dupACACACAC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATGTGT others(1): Show ATATGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG03209.hp1 others(2): Show HG02622.hp2 HG02723.hp2 HG03209.hp1 HG03579.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0027 a0002c0002t0002 others(1): Show a0001c0001t0005 a0001c0001t0027 a0002c0002t0002 a0002c0002t0007	a0001c0001t0005g0066 a0001c0001t0005g0093 a0001c0001t0027g0003 others(2): Show a0001c0001t0005g0066 a0001c0001t0005g0093 a0001c0001t0027g0003 a0002c0002t0002g0061 a0002c0002t0007g0010	5	142	0.0352	8	c.132 others(29): Show c.1320+34067_1320+34068insCACACATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98600905	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 NA19240.hp2 HG02622.hp1 HG02723.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0008 a0002c0002t0015 a0001c0001t0005 a0001c0001t0008 a0002c0002t0015	a0001c0001t0005g0091 a0001c0001t0008g0004 a0002c0002t0015g0002 a0001c0001t0005g0091 a0001c0001t0008g0004 a0002c0002t0015g0002	3	142	0.0211	8	c.132 others(29): Show c.1320+13998_1320+13999insTATATACA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98614701	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02723.hp1 others(6): Show HG01109.hp1 HG01255.hp1 HG02723.hp1 HG03098.hp1 HG03130.hp2 HG03471.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0026 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0104 others(6): Show a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0104 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0008g0004 a0001c0001t0026g0105 a0001c0001t0030g0108 a0001c0001t0031g0109	9	142	0.0634	8	c.132 others(25): Show c.1320+195_1320+202dupCACACACA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98675539	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 NA18966.hp1 others(1): Show HG01884.hp1 HG02647.hp2 NA18966.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0024 a0002c0002t0002 a0001c0001t0005 a0001c0001t0024 a0002c0002t0002	a0001c0001t0005g0027 a0001c0001t0005g0082 a0001c0001t0024g0132 others(1): Show a0001c0001t0005g0027 a0001c0001t0005g0082 a0001c0001t0024g0132 a0002c0002t0002g0043	4	142	0.0282	8	c.100 others(29): Show c.1004+18353_1004+18360dupGTGTGTGT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	6/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98716442	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(55): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG01081.hp2 HG01167.hp1 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02572.hp1 HG02622.hp1 HG02895.hp1 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18954.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19083.hp1 NA19083.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0032 a0002c0002t0002 a0002c0002t0010 a0002c0002t0013 a0002c0002t0018 a0002c0002t0019 a0002c0002t0021 a0005c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0020 others(55): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0092 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0005g0091 a0001c0001t0005g0094 a0001c0001t0008g0030 a0001c0001t0009g0049 a0001c0001t0014g0102 a0001c0001t0014g0136 a0001c0001t0017g0054 a0001c0001t0022g0035 a0001c0001t0024g0132 a0001c0001t0025g0130 a0001c0001t0029g0083 a0001c0001t0032g0142 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0029 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0002g0121 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0140 a0002c0002t0010g0021 a0002c0002t0010g0042 a0002c0002t0013g0046 a0002c0002t0013g0063 a0002c0002t0018g0044 a0002c0002t0019g0089 a0002c0002t0021g0099 a0005c0005t0001g0085	58	142	0.4085	8	c.956 others(25): Show c.956+5207_956+5214dupATTTATTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	5/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98734175	A A	ATGTATCA others(1): Show ATGTATCAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG02897.hp1 others(2): Show HG02451.hp2 HG02886.hp1 HG02897.hp1 NA18522.hp2 NA18906.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0003c0003t0003 a0004c0004t0002 others(1): Show a0003c0003t0001 a0003c0003t0003 a0004c0004t0002 a0004c0004t0015	a0003c0003t0001g0073 a0003c0003t0003g0090 a0003c0003t0003g0111 others(2): Show a0003c0003t0001g0073 a0003c0003t0003g0090 a0003c0003t0003g0111 a0004c0004t0002g0098 a0004c0004t0015g0110	5	142	0.0352	8	c.784 others(25): Show c.784+9700_784+9707dupCTGATACA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	4/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98742792	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG02145.hp2 others(1): Show HG00438.hp1 HG00673.hp1 HG02145.hp2 HG02273.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0014 a0002c0002t0002 a0001c0001t0009 a0001c0001t0014 a0002c0002t0002	a0001c0001t0009g0122 a0001c0001t0014g0001 a0002c0002t0002g0017 others(1): Show a0001c0001t0009g0122 a0001c0001t0014g0001 a0002c0002t0002g0017 a0002c0002t0002g0119	4	142	0.0282	8	c.784 others(25): Show c.784+1083_784+1090dupGTGTGTGT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	4/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749930	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp2 NA19240.hp2 HG02145.hp2 HG03579.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0027 a0002c0002t0015 a0001c0001t0014 a0001c0001t0027 a0002c0002t0015	a0001c0001t0014g0001 a0001c0001t0027g0003 a0002c0002t0015g0002 a0001c0001t0014g0001 a0001c0001t0027g0003 a0002c0002t0015g0002	3	142	0.0211	8	c.611 others(25): Show c.611-5882_611-5875dupTATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG02897.hp1 others(2): Show HG02451.hp2 HG02886.hp1 HG02897.hp1 NA18522.hp2 NA18906.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0003c0003t0003 a0004c0004t0002 others(1): Show a0003c0003t0001 a0003c0003t0003 a0004c0004t0002 a0004c0004t0015	a0003c0003t0001g0073 a0003c0003t0003g0090 a0003c0003t0003g0111 others(2): Show a0003c0003t0001g0073 a0003c0003t0003g0090 a0003c0003t0003g0111 a0004c0004t0002g0098 a0004c0004t0015g0110	5	142	0.0352	8	c.611 others(25): Show c.611-5892_611-5891insGTATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98778264	C C	CAGAGAGA others(1): Show CAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18950.hp2 NA20129.hp2 others(1): Show HG02135.hp1 NA18950.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0017 a0002c0002t0013 others(1): Show a0001c0001t0003 a0001c0001t0017 a0002c0002t0013 a0002c0002t0020	a0001c0001t0003g0125 a0001c0001t0017g0053 a0002c0002t0013g0113 others(1): Show a0001c0001t0003g0125 a0001c0001t0017g0053 a0002c0002t0013g0113 a0002c0002t0020g0139	4	142	0.0282	8	c.611 others(27): Show c.611-34216_611-34209dupCTCTCTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98795019	A A	AGAAGGAA others(1): Show AGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01081.hp1 others(24): Show HG00423.hp1 HG00639.hp2 HG01081.hp1 HG01109.hp2 HG01361.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02258.hp1 HG02572.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG03471.hp2 HG03540.hp1 HG03710.hp1 HG04184.hp2 NA18939.hp1 NA18962.hp2 NA18982.hp2 NA19030.hp1 NA19043.hp1 NA19083.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0006t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0011 a0002c0002t0013 a0002c0002t0019 a0005c0005t0001	a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0092 others(24): Show a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0004g0088 a0001c0001t0008g0004 a0001c0001t0008g0067 a0001c0001t0014g0102 a0001c0001t0016g0025 a0001c0001t0017g0054 a0001c0001t0023g0141 a0001c0006t0001g0100 a0002c0002t0002g0037 a0002c0002t0002g0041 a0002c0002t0002g0045 a0002c0002t0002g0076 a0002c0002t0002g0087 a0002c0002t0010g0056 a0002c0002t0011g0074 a0002c0002t0011g0081 a0002c0002t0013g0046 a0002c0002t0019g0089 a0005c0005t0001g0085	27	142	0.1901	8	c.611 others(27): Show c.611-50971_611-50964dupCTTCCTTC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98852113	A A	ATATATAT others(1): Show ATATATATG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02055.hp2 HG02129.hp2 others(7): Show HG01361.hp1 HG02055.hp2 HG02129.hp2 HG02258.hp1 HG02572.hp2 HG02622.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0002 a0002c0002t0011	a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0079 others(7): Show a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0003g0075 a0001c0001t0005g0066 a0001c0001t0008g0067 a0002c0002t0002g0076 a0002c0002t0002g0087 a0002c0002t0002g0096 a0002c0002t0011g0074	10	142	0.0704	8	c.611 others(29): Show c.611-108058_611-108057insCATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98852113	A A	ATATATGT others(1): Show ATATATGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18944.hp1 HG02572.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0047 a0002c0002t0002g0029 a0002c0002t0002g0047	2	142	0.0141	8	c.611 others(29): Show c.611-108058_611-108057insCACATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98879852	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp1 others(1): Show HG00099.hp2 HG00323.hp1 HG00423.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0025 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0025 a0002c0002t0002 a0002c0002t0013	a0001c0001t0001g0137 a0001c0001t0025g0130 a0002c0002t0002g0140 others(1): Show a0001c0001t0001g0137 a0001c0001t0025g0130 a0002c0002t0002g0140 a0002c0002t0013g0046	4	142	0.0282	8	c.611 others(29): Show c.611-135804_611-135797dupACACACAC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98888135	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18974.hp1 NA18939.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0086 a0001c0001t0001g0116	2	142	0.0141	8	c.611 others(29): Show c.611-144087_611-144080dupGTGTGTGT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98928988	T T	TAATAAAT others(1): Show TAATAAATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02258.hp2 HG02572.hp1 others(2): Show HG00673.hp2 HG02258.hp2 HG02572.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0002c0002t0002	a0001c0001t0001g0009 a0001c0001t0008g0030 a0001c0001t0014g0102 others(2): Show a0001c0001t0001g0009 a0001c0001t0008g0030 a0001c0001t0014g0102 a0001c0001t0014g0136 a0002c0002t0002g0029	5	142	0.0352	8	c.611 others(29): Show c.611-184940_611-184933dupTATTTATT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98999156	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03130.hp2 HG06807.hp2 others(2): Show HG00438.hp1 HG03130.hp2 HG06807.hp2 NA18950.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0002c0002t0013	a0001c0001t0003g0114 a0001c0001t0006g0007 a0001c0001t0006g0008 others(2): Show a0001c0001t0003g0114 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0009g0122 a0002c0002t0013g0113	5	142	0.0352	8	c.610 others(29): Show c.610+145074_610+145081dupACACACAC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99165529	G G	GTATTTAT others(1): Show GTATTTATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp2 NA18954.hp1 others(3): Show HG03130.hp2 HG06807.hp2 NA18954.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0024 a0002c0002t0019	a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0006g0007 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0024g0132 a0002c0002t0019g0089	6	142	0.0423	8	c.449 others(27): Show c.449-21138_449-21131dupAATAAATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99168087	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02257.hp1 HG02273.hp1 others(5): Show HG01928.hp1 HG02257.hp1 HG02273.hp1 HG03579.hp1 HG04184.hp1 NA18965.hp2 NA18968.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0028 a0002c0002t0002 a0001c0001t0001 a0001c0001t0028 a0002c0002t0002	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0024 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0028g0097 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0121	8	142	0.0563	8	c.449 others(27): Show c.449-23696_449-23689dupGTGTGTGT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99184786	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01167.hp2 others(7): Show HG00423.hp1 HG00673.hp2 HG01167.hp2 HG01891.hp1 HG02083.hp1 HG02135.hp1 HG03471.hp2 NA18939.hp2 NA19009.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0005c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0116 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0116 a0001c0001t0004g0095 a0001c0001t0017g0053 a0002c0002t0002g0045 a0002c0002t0002g0087 a0002c0002t0012g0006 a0002c0002t0013g0046 a0005c0005t0001g0085	10	142	0.0704	8	c.449 others(27): Show c.449-40395_449-40388dupTATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99186104	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA21309.hp2 HG02886.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0003 a0001c0001t0003 a0003c0003t0003	a0001c0001t0003g0125 a0003c0003t0003g0111 a0001c0001t0003g0125 a0003c0003t0003g0111	2	142	0.0141	8	c.449 others(27): Show c.449-41713_449-41706dupTGTGTGTG	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99232214	T T	TGCATACA others(1): Show TGCATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG03098.hp2 others(1): Show HG02145.hp2 HG02257.hp2 HG03098.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0007 a0002c0002t0015 a0001c0001t0014 a0002c0002t0007 a0002c0002t0015	a0001c0001t0014g0001 a0002c0002t0007g0031 a0002c0002t0007g0032 others(1): Show a0001c0001t0014g0001 a0002c0002t0007g0031 a0002c0002t0007g0032 a0002c0002t0015g0002	4	142	0.0282	8	c.448 others(23): Show c.448+133_448+134insGTGTATGC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99235101	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01891.hp2 NA20129.hp2 HG00099.hp2 HG01891.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0002c0002t0002 a0002c0002t0020 a0001c0001t0023 a0002c0002t0002 a0002c0002t0020	a0001c0001t0023g0141 a0002c0002t0002g0140 a0002c0002t0020g0139 a0001c0001t0023g0141 a0002c0002t0002g0140 a0002c0002t0020g0139	3	142	0.0211	8	c.290 others(23): Show c.290+404_290+411dupGTGTGTGT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	1/11			chr10	TogoVar
HPSE_chr4_83287461_83339848	83300814	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01891.hp2 others(16): Show HG01099.hp1 HG01106.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02148.hp2 HG02273.hp1 HG02572.hp2 HG02615.hp2 HG02738.hp1 HG03017.hp1 HG03225.hp2 HG03540.hp2 HG03710.hp2 NA18963.hp1 NA18990.hp1 NA19065.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0010 a0001c0001 a0002c0002 a0007c0010	a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0007c0010t0002	a0001c0001t0002g0016 a0001c0001t0002g0040 a0001c0001t0002g0138 others(16): Show a0001c0001t0002g0016 a0001c0001t0002g0040 a0001c0001t0002g0138 a0001c0001t0002g0145 a0001c0001t0002g0242 a0001c0001t0004g0042 a0001c0001t0004g0129 a0001c0001t0004g0147 a0001c0001t0004g0272 a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0064 a0002c0002t0002g0075 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0179 a0002c0002t0002g0187 a0007c0010t0002g0063	19	320	0.0594	8	c.147 others(25): Show c.1472+138_1472+145dupTTTTTTTT	HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding	11/11			chr4	TogoVar
HPSE_chr4_83287461_83339848	83321987	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01975.hp1 HG01981.hp2 others(3): Show HG01243.hp1 HG01975.hp1 HG01981.hp2 HG02083.hp1 HG02148.hp2 HG02717.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0003c0004 a0002c0002 a0002c0005 a0003c0004	a0002c0002t0001 a0002c0002t0002 a0002c0005t0005 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0005 a0003c0004t0007	a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0310 others(3): Show a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0310 a0002c0002t0002g0075 a0002c0005t0005g0311 a0003c0004t0007g0058	6	320	0.0188	8	c.373 others(23): Show c.373+224_373+231dupAAAAAAAA	HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding	2/11			chr4	TogoVar
HPSE_chr4_83287461_83339848	83322789	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01943.hp1 HG02896.hp2 others(1): Show HG01099.hp2 HG01943.hp1 HG02896.hp2 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0006 a0002c0002t0002 a0001c0001t0001 a0001c0003t0006 a0002c0002t0002	a0001c0001t0001g0066 a0001c0003t0006g0262 a0001c0003t0006g0263 others(1): Show a0001c0001t0001g0066 a0001c0003t0006g0262 a0001c0003t0006g0263 a0002c0002t0002g0067	4	320	0.0125	8	c.228 others(23): Show c.228-433_228-426dupCACACACA	HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding	1/11			chr4	TogoVar
HPSE_chr4_83287461_83339848	83322789	T T	TTTTGTGT others(1): Show TTTTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03927.hp1 NA18522.hp2 others(3): Show HG02083.hp2 HG03927.hp1 NA18522.hp2 NA19001.hp2 NA19060.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0165 a0001c0001t0001g0249 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0165 a0001c0001t0001g0249 a0001c0001t0002g0224 a0001c0001t0007g0223 a0002c0002t0001g0253	6	320	0.0188	8	c.228 others(23): Show c.228-426_228-425insCACACAAA	HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding	1/11			chr4	TogoVar
HRAS_chr11_527242_540576	539384	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01891.hp2 HG02572.hp2 others(12): Show HG00597.hp1 HG01891.hp2 HG02572.hp2 HG02717.hp1 HG02738.hp2 HG03098.hp1 HG03098.hp2 HG03486.hp1 HG03492.hp2 HG04115.hp1 NA19009.hp1 NA19010.hp2 NA19064.hp2 NA19066.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0002t0001g0003 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0002g0004 a0001c0002t0014g0048 a0002c0003t0001g0025	15	397	0.0378	8	c.-40 others(19): Show c.-4030_-4023dupAAAAAAAA	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		3809		chr11	TogoVar
HRC_chr19_49146198_49160396	49147686	A A	AAGAGAGA others(1): Show AAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01516.hp2 HG01517.hp1 others(5): Show HG01167.hp1 HG01516.hp2 HG01517.hp1 HG02074.hp2 HG02559.hp2 HG02896.hp1 HG03239.hp1 NA18995.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0029 a0039	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0029c0044 a0039c0052	a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 a0029c0044t0001 a0039c0052t0001	a0001c0001t0001g0001 a0002c0002t0001g0066 a0005c0005t0001g0025 others(2): Show a0001c0001t0001g0001 a0002c0002t0001g0066 a0005c0005t0001g0025 a0029c0044t0001g0062 a0039c0052t0001g0077	8	406	0.0197	8	c.36 others(19): Show c.3602_*3609dupCTCTCTCT	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding		3511		chr19	TogoVar
HRG_chr3_186661014_186683234	186675302	T T	TGAGAGAG others(1): Show TGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00621.hp2 others(25): Show HG00280.hp2 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG01975.hp2 HG02040.hp1 HG02080.hp1 HG02165.hp2 HG02683.hp2 HG02717.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 NA18939.hp2 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18972.hp1 NA18983.hp2 NA19001.hp1 NA19063.hp2 NA19082.hp1 NA19085.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0003 a0005 a0012 others(1): Show a0003 a0005 a0012 a0017	a0003c0003 a0005c0005 a0012c0012 others(1): Show a0003c0003 a0005c0005 a0012c0012 a0017c0018	a0003c0003t0001 a0005c0005t0001 a0012c0012t0001 others(1): Show a0003c0003t0001 a0005c0005t0001 a0012c0012t0001 a0017c0018t0001	a0003c0003t0001g0029 a0005c0005t0001g0004 a0005c0005t0001g0084 others(8): Show a0003c0003t0001g0029 a0005c0005t0001g0004 a0005c0005t0001g0084 a0005c0005t0001g0099 a0005c0005t0001g0121 a0005c0005t0001g0126 a0005c0005t0001g0127 a0005c0005t0001g0131 a0005c0005t0001g0147 a0012c0012t0001g0029 a0017c0018t0001g0004	28	472	0.0593	8	c.741 others(23): Show c.741+113_741+114insAGAGAGAG	HRG	ENSG00000113905.5	transcript	ENST00000232003.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11172704	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00558.hp1 others(75): Show HG00140.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG01099.hp2 HG01169.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01891.hp1 HG01981.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02683.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp2 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19072.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0026 a0001c0002t0007 a0001c0002t0018 a0001c0004t0009 a0001c0010t0002	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(75): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0344 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0002g0152 a0001c0001t0003g0085 a0001c0001t0003g0132 a0001c0001t0004g0061 a0001c0001t0004g0074 a0001c0001t0004g0147 a0001c0001t0005g0153 a0001c0001t0006g0060 a0001c0001t0006g0142 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0148 a0001c0001t0014g0086 a0001c0001t0026g0045 a0001c0002t0007g0063 a0001c0002t0007g0140 a0001c0002t0018g0231 a0001c0004t0009g0328 a0001c0010t0002g0091	78	352	0.2216	8	c.-36 others(27): Show c.-36+18159_-36+18166dupTTTTTTTT	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11176168	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01515.hp1 HG02109.hp1 others(19): Show HG01109.hp1 HG01515.hp1 HG02109.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA18981.hp1 NA19030.hp1 NA19068.hp2 NA19082.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0004t0009 a0002c0003t0008 a0005c0007t0001	a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 others(19): Show a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0136 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0003g0044 a0001c0001t0003g0123 a0001c0001t0005g0037 a0001c0001t0005g0109 a0001c0001t0006g0125 a0001c0001t0006g0128 a0001c0004t0009g0105 a0001c0004t0009g0126 a0001c0004t0009g0127 a0002c0003t0008g0103 a0005c0007t0001g0041	22	352	0.0625	8	c.-36 others(27): Show c.-36+21621_-36+21628dupAAAAAAAA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11180948	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01496.hp2 HG02080.hp2 others(19): Show HG01169.hp2 HG01496.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02922.hp2 HG02970.hp1 HG03491.hp1 NA18747.hp2 NA18952.hp2 NA18960.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18985.hp1 NA18991.hp2 NA19043.hp2 NA19062.hp2 NA19066.hp2 NA19084.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0002t0007 a0002c0003t0008 a0006c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0019 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0164 a0001c0001t0001g0206 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0332 a0001c0001t0002g0133 a0001c0001t0003g0239 a0001c0001t0006g0060 a0001c0001t0006g0128 a0001c0001t0007g0313 a0001c0001t0016g0151 a0001c0002t0007g0063 a0002c0003t0008g0056 a0006c0011t0001g0011	22	352	0.0625	8	c.-36 others(27): Show c.-36+26439_-36+26446dupACACACAC	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11202404	C C	CAATAAAT others(1): Show CAATAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00639.hp1 others(128): Show HG00099.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18951.hp1 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18968.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19011.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19072.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0003 a0003c0005 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0002t0018 a0001c0004t0009 a0001c0012t0004 a0002c0003t0008 a0003c0005t0002 a0006c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(128): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0002g0046 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0133 a0001c0001t0002g0158 a0001c0001t0002g0170 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0232 a0001c0001t0002g0242 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0290 a0001c0001t0002g0333 a0001c0001t0002g0352 a0001c0001t0003g0205 a0001c0001t0003g0239 a0001c0001t0003g0273 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0005g0190 a0001c0001t0006g0142 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0011g0137 a0001c0001t0013g0036 a0001c0001t0014g0086 a0001c0001t0017g0226 a0001c0001t0019g0227 a0001c0001t0020g0208 a0001c0001t0024g0139 a0001c0002t0018g0231 a0001c0004t0009g0126 a0001c0004t0009g0127 a0001c0004t0009g0129 a0001c0004t0009g0328 a0001c0012t0004g0173 a0002c0003t0008g0051 a0002c0003t0008g0054 a0002c0003t0008g0056 a0002c0003t0008g0103 a0002c0003t0008g0311 a0003c0005t0002g0284 a0003c0005t0002g0343 a0006c0011t0001g0011	131	352	0.3722	8	c.-36 others(27): Show c.-36+47876_-36+47883dupATAAATAA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar

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