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
HERC1_chr15_63603618_63838948	63789801	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00738.hp2 others(31): Show HG00140.hp2 HG00408.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01192.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02109.hp1 HG02258.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03834.hp2 NA18522.hp1 NA18980.hp2 NA19030.hp2 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0011 a0015	a0001c0001 a0001c0004 a0001c0006 others(9): Show a0001c0001 a0001c0004 a0001c0006 a0002c0003 a0004c0007 a0004c0014 a0005c0009 a0006c0016 a0007c0037 a0007c0038 a0011c0024 a0015c0032	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 others(10): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0001c0006t0001 a0002c0003t0001 a0004c0007t0001 a0004c0014t0001 a0005c0009t0001 a0006c0016t0001 a0007c0037t0001 a0007c0038t0001 a0011c0024t0001 a0015c0032t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(29): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0194 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0003g0180 a0001c0006t0001g0002 a0001c0006t0001g0108 a0001c0006t0001g0125 a0001c0006t0001g0126 a0001c0006t0001g0129 a0001c0006t0001g0137 a0001c0006t0001g0174 a0002c0003t0001g0026 a0004c0007t0001g0175 a0004c0014t0001g0021 a0004c0014t0001g0022 a0005c0009t0001g0001 a0005c0009t0001g0029 a0005c0009t0001g0030 a0005c0009t0001g0083 a0005c0009t0001g0088 a0006c0016t0001g0123 a0006c0016t0001g0171 a0007c0037t0001g0100 a0007c0038t0001g0099 a0011c0024t0001g0124 a0015c0032t0001g0109	34	216	0.1574	8	c.-26 others(27): Show c.-26-14160_-26-14153dupATTTATTT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63829559	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03209.hp1 HG02735.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0166 a0001c0001t0001g0167	2	216	0.0093	8	c.-27 others(25): Show c.-27+4267_-27+4268insTATATATA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63829561	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03834.hp1 NA18954.hp2 others(1): Show HG00735.hp1 HG03834.hp1 NA18954.hp2 NA18981.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0025 a0003c0002t0001g0059 a0003c0002t0001g0060 others(1): Show a0003c0002t0001g0025 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061	4	216	0.0185	8	c.-27 others(25): Show c.-27+4265_-27+4266insTACACACA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63833747	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01069.hp1 others(1): Show HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01192.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0207 a0002c0005t0001g0208 a0002c0005t0001g0209 others(1): Show a0002c0005t0001g0207 a0002c0005t0001g0208 a0002c0005t0001g0209 a0002c0005t0001g0210	4	216	0.0185	8	c.-27 others(21): Show c.-27+79_-27+80insTGTGTGTG	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC2_chr15_28106040_28327179	28224134	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp1 HG01106.hp2 others(16): Show HG00438.hp2 HG01081.hp1 HG01106.hp2 HG01978.hp1 HG02040.hp2 HG02056.hp2 HG02735.hp2 HG02809.hp2 HG03041.hp1 HG03195.hp1 NA18612.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp2 NA19001.hp1 NA19004.hp1 NA19077.hp2 NA19079.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0027	a0001c0001 a0001c0005 a0001c0025 others(4): Show a0001c0001 a0001c0005 a0001c0025 a0001c0026 a0002c0002 a0003c0068 a0027c0067	a0001c0001t0001 a0001c0005t0003 a0001c0025t0001 others(4): Show a0001c0001t0001 a0001c0005t0003 a0001c0025t0001 a0001c0026t0001 a0002c0002t0001 a0003c0068t0006 a0027c0067t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(16): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0005t0003g0116 a0001c0005t0003g0131 a0001c0005t0003g0166 a0001c0025t0001g0126 a0001c0026t0001g0162 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0083 a0003c0068t0006g0249 a0027c0067t0001g0106	19	250	0.0760	8	c.546 others(27): Show c.5465-1927_5465-1920dupGTGTGTGT	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	35/92			chr15	TogoVar
HERC2_chr15_28106040_28327179	28236303	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp1 NA18612.hp1 others(5): Show HG00423.hp2 HG02027.hp1 NA18612.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA19000.hp2 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0209 a0001c0003t0001g0219 a0001c0003t0001g0221 others(5): Show a0001c0003t0001g0209 a0001c0003t0001g0219 a0001c0003t0001g0221 a0001c0003t0001g0222 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0083	8	250	0.0320	8	c.400 others(25): Show c.4003+659_4003+660insAAAAAAAA	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	26/92			chr15	TogoVar
HERC2_chr15_28106040_28327179	28279615	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(30): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01433.hp1 HG01884.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02155.hp1 HG02602.hp1 HG03492.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18941.hp1 NA18967.hp1 NA18970.hp2 NA18975.hp2 NA18983.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19080.hp2 NA19081.hp2	a0001 a0003 a0025 others(2): Show a0001 a0003 a0025 a0026 a0031	a0001c0003 a0001c0043 a0001c0044 others(7): Show a0001c0003 a0001c0043 a0001c0044 a0001c0045 a0001c0066 a0001c0070 a0003c0004 a0025c0042 a0026c0040 a0031c0034	a0001c0003t0001 a0001c0043t0001 a0001c0044t0001 others(7): Show a0001c0003t0001 a0001c0043t0001 a0001c0044t0001 a0001c0045t0001 a0001c0066t0001 a0001c0070t0001 a0003c0004t0002 a0025c0042t0001 a0026c0040t0001 a0031c0034t0001	a0001c0003t0001g0017 a0001c0003t0001g0185 a0001c0003t0001g0187 others(30): Show a0001c0003t0001g0017 a0001c0003t0001g0185 a0001c0003t0001g0187 a0001c0003t0001g0190 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0237 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0043t0001g0208 a0001c0044t0001g0235 a0001c0045t0001g0186 a0001c0066t0001g0230 a0001c0070t0001g0216 a0003c0004t0002g0023 a0025c0042t0001g0231 a0026c0040t0001g0240 a0031c0034t0001g0206	33	250	0.1320	8	c.542 others(23): Show c.542+445_542+452dupTGTGTGTG	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	5/92			chr15	TogoVar
HERC2_chr15_28106040_28327179	28301735	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02738.hp1 NA19079.hp1 HG02273.hp1 HG02738.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0003g0139 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0003g0139	3	250	0.0120	8	c.73- others(23): Show c.73-2220_73-2219insTATATACA	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	2/92			chr15	TogoVar
HERC3_chr4_88587480_88713539	88612289	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG01167.hp1 others(27): Show HG00738.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01928.hp2 HG02055.hp2 HG02135.hp1 HG02486.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 NA18963.hp2 NA18965.hp2 NA18975.hp2 NA18982.hp1 NA18990.hp1 NA18995.hp2 NA19004.hp1 NA19063.hp2 NA19074.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0002c0002 a0002c0003 a0002c0006	a0001c0001t0004 a0001c0004t0002 a0001c0004t0003 others(9): Show a0001c0001t0004 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0008t0004 a0002c0002t0002 a0002c0002t0015 a0002c0003t0002 a0002c0003t0014 a0002c0006t0002	a0001c0001t0004g0002 a0001c0001t0004g0025 a0001c0001t0004g0041 others(26): Show a0001c0001t0004g0002 a0001c0001t0004g0025 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0117 a0001c0001t0004g0154 a0001c0001t0004g0244 a0001c0004t0002g0274 a0001c0004t0003g0262 a0001c0004t0004g0277 a0001c0005t0001g0100 a0001c0005t0003g0065 a0001c0005t0003g0116 a0001c0008t0004g0010 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0107 a0002c0002t0015g0115 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0078 a0002c0003t0014g0033 a0002c0006t0002g0272 a0002c0006t0002g0273	30	296	0.1014	8	c.226 others(25): Show c.226+6271_226+6278dupTGTGTGTG	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC3_chr4_88587480_88713539	88654349	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03490.hp2 HG03516.hp1 HG02647.hp1 HG03490.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0002 a0001c0001t0004 a0002c0003t0002	a0001c0001t0004g0040 a0002c0003t0002g0078 a0002c0003t0002g0251 a0001c0001t0004g0040 a0002c0003t0002g0078 a0002c0003t0002g0251	3	296	0.0101	8	c.777 others(23): Show c.777+248_777+255dupTATATATA	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC4_chr10_67916905_68080283	67946348	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01099.hp1 HG03540.hp2 HG00544.hp1 HG01099.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0164 a0001c0002t0001g0280 a0001c0001t0001g0017 a0001c0001t0001g0164 a0001c0002t0001g0280	3	360	0.0083	8	c.233 others(27): Show c.2338-5251_2338-5244dupGTGTGTGT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	19/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68022500	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(62): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18955.hp1 NA18961.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18975.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18989.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19006.hp2 NA19011.hp1 NA19062.hp2 NA19083.hp1 NA19240.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0001c0014	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0002t0005 a0001c0002t0007 a0001c0004t0001 a0001c0013t0013 a0001c0014t0001	a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0035 others(62): Show a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0338 a0001c0001t0010g0012 a0001c0001t0012g0137 a0001c0002t0005g0196 a0001c0002t0005g0197 a0001c0002t0005g0198 a0001c0002t0005g0329 a0001c0002t0007g0292 a0001c0004t0001g0079 a0001c0004t0001g0091 a0001c0013t0013g0340 a0001c0014t0001g0152	65	360	0.1806	8	c.908 others(25): Show c.908+3038_908+3045dupATTTATTT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	8/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68049590	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp1 HG02818.hp1 others(5): Show HG02145.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0002t0007 a0001c0006t0002 a0001c0002t0002 a0001c0002t0007 a0001c0006t0002	a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 others(5): Show a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0007g0289 a0001c0002t0007g0290 a0001c0006t0002g0002	8	360	0.0222	8	c.227 others(25): Show c.227-5035_227-5028dupTTTTTTTT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059721	T T	TATATCAT others(1): Show TATATCATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG03579.hp1 others(1): Show HG01884.hp1 HG02145.hp1 HG03579.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0068 a0001c0001t0001g0199 a0001c0001t0001g0200 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0002t0007g0289	4	360	0.0111	8	c.226 others(27): Show c.226+13161_226+13162insTATGATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059721	T T	TATATTAT others(1): Show TATATTATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp1 others(69): Show HG00099.hp1 HG00140.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01346.hp2 HG01515.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02148.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18963.hp2 NA18965.hp2 NA18999.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0003t0003 a0001c0003t0004 a0001c0005t0003 a0001c0008t0001 a0001c0009t0001 a0001c0011t0001	a0001c0001t0001g0093 a0001c0001t0001g0130 a0001c0001t0001g0145 others(69): Show a0001c0001t0001g0093 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0008g0298 a0001c0001t0009g0293 a0001c0001t0009g0294 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0005g0319 a0001c0002t0005g0320 a0001c0002t0005g0321 a0001c0002t0005g0329 a0001c0002t0007g0291 a0001c0002t0007g0327 a0001c0003t0003g0341 a0001c0003t0003g0342 a0001c0003t0003g0346 a0001c0003t0003g0352 a0001c0003t0003g0354 a0001c0003t0003g0357 a0001c0003t0004g0347 a0001c0003t0004g0348 a0001c0003t0004g0349 a0001c0003t0004g0350 a0001c0003t0004g0351 a0001c0003t0004g0355 a0001c0003t0004g0358 a0001c0003t0004g0359 a0001c0003t0004g0360 a0001c0005t0003g0353 a0001c0008t0001g0311 a0001c0009t0001g0306 a0001c0011t0001g0328	72	360	0.2000	8	c.226 others(27): Show c.226+13154_226+13161dupTATAATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68076114	T T	TTTTATTT others(1): Show TTTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02965.hp1 HG03579.hp1 others(2): Show HG01884.hp1 HG02965.hp1 HG03579.hp1 NA18975.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0199 a0001c0001t0001g0200 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0309 a0001c0001t0001g0310	5	360	0.0139	8	c.-10 others(19): Show c.-1080_-1079insTAAATAAA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding		832		chr10	TogoVar
HERC6_chr4_88373852_88448097	88430569	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01192.hp2 HG02258.hp1 others(8): Show HG01167.hp2 HG01192.hp2 HG02258.hp1 HG02809.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp1 NA18522.hp1 NA18612.hp2 NA18951.hp1 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0010	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0004c0004 a0009c0009 a0010c0013	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0004c0004t0001 a0009c0009t0001 a0010c0013t0001	a0001c0001t0001g0040 a0001c0001t0001g0088 a0001c0001t0001g0103 others(8): Show a0001c0001t0001g0040 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0008t0001g0082 a0002c0002t0001g0046 a0002c0002t0001g0129 a0004c0004t0001g0145 a0009c0009t0001g0050 a0010c0013t0001g0151	11	174	0.0632	8	c.210 others(25): Show c.2107-557_2107-550dupTAAATAAA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88430612	A A	ATAAATAA others(1): Show ATAAATAAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02486.hp1 HG02723.hp2 others(1): Show HG01167.hp1 HG02486.hp1 HG02723.hp2 NA18906.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0008 a0009c0009 a0001c0001 a0001c0008 a0009c0009	a0001c0001t0001 a0001c0008t0001 a0009c0009t0001 a0001c0001t0001 a0001c0008t0001 a0009c0009t0001	a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0008t0001g0071 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0008t0001g0071 a0009c0009t0001g0087	4	174	0.0230	8	c.210 others(25): Show c.2107-550_2107-549insTAAATAAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	16/22			chr4	TogoVar
HERPUD1_chr16_56927142_56949864	56934702	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG01496.hp1 others(15): Show HG00558.hp1 HG00642.hp2 HG01496.hp1 HG01884.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG03490.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp1 NA18960.hp2 NA18964.hp1 NA18970.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0016 a0001c0001t0001 a0002c0002t0001 a0002c0002t0016	a0001c0001t0001g0104 a0002c0002t0001g0007 a0002c0002t0001g0051 others(2): Show a0001c0001t0001g0104 a0002c0002t0001g0007 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0016g0007	18	428	0.0421	8	c.148 others(23): Show c.148-513_148-506dupTTTTTTTT	HERPUD1	ENSG00000051108.15	transcript	ENST00000439977.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
HERPUD2_chr7_35627659_35700135	35631625	T T	TATATATA others(1): Show TATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA18959.hp2 NA18975.hp1 others(1): Show HG02040.hp1 NA18959.hp2 NA18975.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0132 a0001c0001t0003g0142 a0001c0001t0003g0160 others(1): Show a0001c0001t0003g0132 a0001c0001t0003g0142 a0001c0001t0003g0160 a0001c0001t0014g0125	4	392	0.0102	8	c.20 others(19): Show c.2064_*2065insTTATATAT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		1033		chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35637138	A A	AAAAGAAA others(1): Show AAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01256.hp2 HG01261.hp1 others(17): Show HG00642.hp2 HG01256.hp2 HG01261.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01978.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02683.hp1 HG02735.hp2 HG03834.hp1 HG04228.hp1 NA18992.hp1 NA19010.hp2 NA19043.hp2 NA19058.hp1 NA19063.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 a0001c0001t0001 a0002c0002t0002 a0002c0002t0012	a0001c0001t0001g0092 a0002c0002t0002g0288 a0002c0002t0002g0290 others(17): Show a0001c0001t0001g0092 a0002c0002t0002g0288 a0002c0002t0002g0290 a0002c0002t0002g0298 a0002c0002t0002g0310 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0334 a0002c0002t0002g0342 a0002c0002t0002g0351 a0002c0002t0002g0366 a0002c0002t0002g0375 a0002c0002t0002g0376 a0002c0002t0002g0377 a0002c0002t0002g0378 a0002c0002t0002g0383 a0002c0002t0002g0385 a0002c0002t0002g0388 a0002c0002t0002g0389 a0002c0002t0012g0294	20	392	0.0510	8	c.617 others(25): Show c.617+1204_617+1211dupCTTTCTTT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	6/8			chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35637160	A A	AAGAAAGA others(1): Show AAGAAAGAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01515.hp1 others(9): Show HG01070.hp1 HG01071.hp1 HG01515.hp1 HG01934.hp2 HG01978.hp1 HG02040.hp2 HG02738.hp1 HG02818.hp2 HG03130.hp2 HG03704.hp1 NA18993.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 a0003c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0046 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0003g0126 a0001c0001t0006g0058 a0001c0001t0010g0077 a0001c0001t0022g0392 a0003c0003t0001g0055	12	392	0.0306	8	c.617 others(25): Show c.617+1189_617+1190insATCTTTCT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	6/8			chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35674379	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01123.hp2 others(4): Show HG00621.hp1 HG00735.hp2 HG01123.hp2 HG01517.hp1 HG01891.hp1 HG02809.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0006t0001 a0002c0002t0002	a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0079 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0011g0223 a0001c0006t0001g0036 a0002c0002t0002g0296	7	392	0.0179	8	c.148 others(25): Show c.148-1109_148-1102dupTATATATA	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35682351	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18991.hp2 NA19043.hp1 HG03579.hp1 NA18991.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0190 a0001c0001t0003g0221 a0001c0001t0016g0133 a0001c0001t0003g0190 a0001c0001t0003g0221 a0001c0001t0016g0133	3	392	0.0077	8	c.148 others(25): Show c.148-9074_148-9073insTATATATA	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35682357	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp2 NA18906.hp1 HG02809.hp2 HG02886.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214	3	392	0.0077	8	c.148 others(25): Show c.148-9087_148-9080dupTATATATA	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35685960	C C	CAAAATAA others(1): Show CAAAATAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01256.hp2 others(9): Show HG01081.hp1 HG01106.hp2 HG01256.hp2 HG01934.hp1 HG01952.hp1 HG02630.hp1 HG02735.hp2 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG04204.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0371 a0002c0002t0002g0372 a0002c0002t0002g0373 others(9): Show a0002c0002t0002g0371 a0002c0002t0002g0372 a0002c0002t0002g0373 a0002c0002t0002g0374 a0002c0002t0002g0378 a0002c0002t0002g0379 a0002c0002t0002g0380 a0002c0002t0002g0381 a0002c0002t0002g0382 a0002c0002t0002g0383 a0002c0002t0002g0384 a0002c0002t0002g0385	12	392	0.0306	8	c.147 others(25): Show c.147+8223_147+8224insTTTATTTT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HES7_chr17_8115592_8129106	8128308	C C	CTAGATAG others(1): Show CTAGATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(83): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03834.hp2 HG04228.hp2 NA18941.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18974.hp1 NA18982.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp2 NA19005.hp1 NA19010.hp1 NA19012.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp2 NA19075.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0004t0014 a0002c0006t0004	a0001c0001t0001g0004 a0001c0001t0002g0002 a0001c0001t0003g0003 others(14): Show a0001c0001t0001g0004 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0031 a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0006g0006 a0001c0001t0008g0010 a0001c0002t0001g0001 a0001c0003t0004g0005 a0001c0003t0004g0012 a0001c0003t0005g0007 a0001c0003t0010g0015 a0001c0003t0011g0018 a0001c0003t0012g0022 a0001c0004t0014g0024 a0002c0006t0004g0028	86	446	0.1928	8	c.-42 others(19): Show c.-4225_-4224insTCTATCTA	HES7	ENSG00000179111.9	transcript	ENST00000541682.7	protein_coding		4203		chr17	TogoVar
HESX1_chr3_57192838_57204978	57201875	A A	ATATCTAT others(1): Show ATATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02135.hp2 HG03453.hp2 others(8): Show HG00099.hp2 HG02135.hp2 HG03453.hp2 HG03710.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18982.hp1 NA19005.hp2 NA19078.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0002c0002t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0004 a0002c0002t0001g0003	11	336	0.0327	8	c.-19 others(19): Show c.-1965_-1958dupGATAGATA	HESX1	ENSG00000163666.10	transcript	ENST00000295934.8	protein_coding		1898		chr3	TogoVar
HEXA_chr15_72335924_72381014	72338303	C C	CATCTATC others(1): Show CATCTATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp2 others(87): Show HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00642.hp1 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp2 HG01928.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02293.hp2 HG02559.hp1 HG02615.hp2 HG02683.hp2 HG02738.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA19000.hp1 NA19001.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19075.hp1 NA19080.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0026 a0001c0001t0029 a0001c0002t0003 a0002c0003t0004 a0002c0003t0015 a0002c0003t0018 a0003c0004t0005 a0003c0004t0009	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0002g0002 a0001c0001t0002g0027 a0001c0001t0002g0096 a0001c0001t0002g0131 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0211 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0005g0063 a0001c0001t0006g0008 a0001c0001t0006g0064 a0001c0001t0007g0014 a0001c0001t0007g0206 a0001c0001t0008g0016 a0001c0001t0008g0038 a0001c0001t0008g0046 a0001c0001t0008g0051 a0001c0001t0008g0057 a0001c0001t0008g0059 a0001c0001t0008g0061 a0001c0001t0009g0018 a0001c0001t0009g0078 a0001c0001t0011g0155 a0001c0001t0012g0113 a0001c0001t0012g0123 a0001c0001t0013g0083 a0001c0001t0014g0100 a0001c0001t0019g0171 a0001c0001t0026g0109 a0001c0001t0029g0150 a0001c0002t0003g0003 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0250 a0001c0002t0003g0252 a0001c0002t0003g0259 a0001c0002t0003g0266 a0002c0003t0004g0005 a0002c0003t0004g0029 a0002c0003t0004g0227 a0002c0003t0004g0229 a0002c0003t0004g0231 a0002c0003t0004g0232 a0002c0003t0004g0236 a0002c0003t0015g0220 a0002c0003t0018g0028 a0003c0004t0005g0043 a0003c0004t0005g0045 a0003c0004t0005g0224 a0003c0004t0005g0245 a0003c0004t0009g0034 a0003c0004t0009g0035	90	354	0.2542	8	c.57 others(19): Show c.5773_*5774insAGATAGAT	HEXA	ENSG00000213614.11	transcript	ENST00000268097.10	protein_coding		2620		chr15	TogoVar
HEXA_chr15_72335924_72381014	72340841	T T	TCACACAC others(1): Show TCACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00621.hp2 others(46): Show HG00544.hp2 HG00597.hp1 HG00621.hp2 HG01168.hp2 HG01192.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02559.hp1 HG02698.hp2 HG02976.hp2 HG03491.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18946.hp2 NA18948.hp2 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18994.hp1 NA18999.hp2 NA19007.hp2 NA19009.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp2 NA19082.hp1 NA19091.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0023 a0001c0002t0003 a0002c0003t0015 a0004c0007t0002	a0001c0001t0001g0111 a0001c0001t0002g0195 a0001c0001t0003g0004 others(30): Show a0001c0001t0001g0111 a0001c0001t0002g0195 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0158 a0001c0001t0003g0164 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0006g0067 a0001c0001t0008g0061 a0001c0001t0023g0093 a0001c0002t0003g0003 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0246 a0001c0002t0003g0248 a0001c0002t0003g0250 a0001c0002t0003g0254 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0266 a0002c0003t0015g0220 a0004c0007t0002g0132	49	354	0.1384	8	c.32 others(19): Show c.3235_*3236insTGTGTGTG	HEXA	ENSG00000213614.11	transcript	ENST00000268097.10	protein_coding		82		chr15	TogoVar
HEXA_chr15_72335924_72381014	72351938	C C	CTCCTTCC others(1): Show CTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp1 others(107): Show HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG01106.hp2 HG01168.hp2 HG01192.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02273.hp2 HG02293.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp2 NA19080.hp2 NA19082.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0003c0004t0002 a0003c0004t0004 a0003c0004t0005 a0003c0004t0009 a0003c0004t0017	a0001c0001t0002g0211 a0001c0001t0003g0004 a0001c0001t0003g0015 others(78): Show a0001c0001t0002g0211 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0158 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0005g0063 a0001c0001t0005g0068 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0017 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0081 a0001c0001t0007g0014 a0001c0001t0007g0026 a0001c0001t0007g0073 a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0200 a0001c0001t0007g0202 a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0009g0018 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0009g0078 a0001c0002t0001g0265 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0003g0003 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0252 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0266 a0003c0004t0002g0204 a0003c0004t0004g0033 a0003c0004t0005g0036 a0003c0004t0005g0042 a0003c0004t0005g0043 a0003c0004t0005g0044 a0003c0004t0005g0045 a0003c0004t0005g0047 a0003c0004t0005g0048 a0003c0004t0005g0055 a0003c0004t0005g0060 a0003c0004t0005g0224 a0003c0004t0005g0245 a0003c0004t0009g0034 a0003c0004t0009g0035 a0003c0004t0009g0037 a0003c0004t0009g0054 a0003c0004t0017g0050	110	354	0.3107	8	c.571 others(23): Show c.571-712_571-705dupAGGAAGGA	HEXA	ENSG00000213614.11	transcript	ENST00000268097.10	protein_coding	5/13			chr15	TogoVar
HEXB_chr5_74680233_74726288	74686133	G G	GTCAGTGG others(1): Show GTCAGTGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(53): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01123.hp1 HG01175.hp1 HG01515.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG02071.hp2 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG03490.hp2 HG03492.hp2 HG03927.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19005.hp1 NA19056.hp1 NA19065.hp1 NA19074.hp1 NA19075.hp1 NA19076.hp2 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0011 a0001c0001 a0003c0003 a0009c0011	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 others(1): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0009c0011t0001	a0001c0001t0001g0215 a0003c0003t0001g0005 a0003c0003t0001g0009 others(41): Show a0001c0001t0001g0215 a0003c0003t0001g0005 a0003c0003t0001g0009 a0003c0003t0001g0024 a0003c0003t0001g0026 a0003c0003t0001g0180 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0186 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0195 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0209 a0003c0003t0001g0211 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0217 a0003c0003t0002g0001 a0003c0003t0002g0025 a0003c0003t0002g0181 a0003c0003t0002g0184 a0003c0003t0002g0185 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0196 a0003c0003t0002g0200 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0210 a0003c0003t0002g0212 a0003c0003t0002g0216 a0009c0011t0001g0194	56	396	0.1414	8	c.299 others(23): Show c.299+576_299+583dupCAGTGGTT	HEXB	ENSG00000049860.14	transcript	ENST00000261416.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
HEXB_chr5_74680233_74726288	74717477	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00733.hp1 others(45): Show HG00140.hp2 HG00280.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG02109.hp2 HG02148.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 NA18906.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19066.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0039 others(42): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0289 a0002c0002t0001g0317 a0002c0002t0001g0318 a0003c0003t0001g0217 a0005c0006t0001g0042	48	396	0.1212	8	c.117 others(25): Show c.1170-802_1170-795dupTATATATA	HEXB	ENSG00000049860.14	transcript	ENST00000261416.12	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
HEXD_chr17_82413347_82447645	82421062	C C	CCTCCAAA others(1): Show CCTCCAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02896.hp2 HG02622.hp1 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0020 a0001c0007t0001g0192 a0001c0007t0001g0020 a0001c0007t0001g0192	3	400	0.0075	8	c.84+ others(23): Show c.84+1179_84+1180insCTCCAAAG	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	2/12			chr17	TogoVar
HEXIM2_chr17_45156875_45175035	45174848	A A	AAAAAAAA others(1): Show AAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01884.hp2 HG02109.hp1 others(11): Show HG00738.hp2 HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02723.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp2 HG03579.hp2 NA19043.hp2 NA19060.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0002g0093 a0001c0001t0002g0116	14	446	0.0314	8	c.50 others(19): Show c.5039_*5040insAAAAAAAG	HEXIM2	ENSG00000168517.11	transcript	ENST00000589230.6	protein_coding		4814		chr17	TogoVar
HFM1_chr1_91255766_91409837	91264361	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01167.hp2 HG01346.hp2 others(8): Show HG00544.hp2 HG01167.hp2 HG01346.hp2 HG01361.hp1 HG01993.hp1 HG02280.hp2 HG02293.hp1 NA19001.hp2 NA19003.hp2 NA19079.hp2 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0001 a0001c0001t0001 a0003c0009t0001	a0001c0001t0001g0015 a0001c0001t0001g0183 a0001c0001t0001g0184 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0280 a0003c0009t0001g0196	11	362	0.0304	8	c.397 others(27): Show c.3974+1648_3974+1655dupAAAAAAAA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	36/38			chr1	TogoVar
HFM1_chr1_91255766_91409837	91408663	C C	CTTCTTTC others(1): Show CTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00609.hp2 others(26): Show HG00280.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01361.hp2 HG01516.hp1 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG02280.hp2 HG02818.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG04204.hp1 NA18955.hp1 NA18965.hp1 NA18967.hp1 NA18977.hp2 NA19056.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0018 a0002c0003 a0003c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0005t0002 a0001c0018t0001 a0002c0003t0001 a0003c0009t0001	a0001c0001t0001g0014 a0001c0001t0001g0107 a0001c0001t0001g0116 others(26): Show a0001c0001t0001g0014 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0179 a0001c0001t0001g0222 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0004g0011 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0005t0002g0144 a0001c0018t0001g0133 a0002c0003t0001g0325 a0002c0003t0001g0326 a0002c0003t0001g0327 a0002c0003t0001g0328 a0002c0003t0001g0344 a0002c0003t0001g0345 a0003c0009t0001g0196	29	362	0.0801	8	c.-38 others(19): Show c.-3894_-3893insAGAAAGAA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding		3827		chr1	TogoVar
HGD_chr3_120623172_120687239	120626845	C C	CTATTTAT others(1): Show CTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02109.hp2 HG02451.hp1 HG02080.hp1 HG02109.hp2 HG02451.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0071 a0001c0001t0001g0130 a0003c0005t0001g0031 a0001c0001t0001g0071 a0001c0001t0001g0130 a0003c0005t0001g0031	3	374	0.0080	8	c.15 others(19): Show c.1534_*1535insAATAAATA	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding		1326		chr3	TogoVar
HGD_chr3_120623172_120687239	120630798	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02572.hp2 HG03195.hp2 HG00741.hp2 HG02572.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0053 a0001c0001t0001g0099 a0001c0003t0001g0070 a0001c0001t0001g0053 a0001c0001t0001g0099 a0001c0003t0001g0070	3	374	0.0080	8	c.118 others(27): Show c.1189-2277_1189-2270dupTATATATA	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	13/13			chr3	TogoVar
HGD_chr3_120623172_120687239	120630825	T T	TATATACA others(1): Show TATATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG03540.hp1 others(1): Show HG02145.hp1 HG03041.hp2 HG03540.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0064 a0001c0001t0001g0190 a0002c0002t0001g0294 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0190 a0002c0002t0001g0294 a0002c0002t0001g0327	4	374	0.0107	8	c.118 others(27): Show c.1189-2297_1189-2296insGTGTATAT	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	13/13			chr3	TogoVar
HGD_chr3_120623172_120687239	120630825	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01081.hp2 others(11): Show HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02135.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0102 a0001c0001t0001g0103 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0175 a0002c0002t0001g0069 a0002c0002t0001g0264 a0002c0002t0001g0293 a0002c0002t0001g0303 a0002c0002t0001g0340 a0002c0002t0001g0343	14	374	0.0374	8	c.118 others(27): Show c.1189-2297_1189-2296insGTATATAT	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	13/13			chr3	TogoVar
HGD_chr3_120623172_120687239	120630831	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02486.hp1 HG02647.hp1 HG01433.hp1 HG02486.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0304 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0304	3	374	0.0080	8	c.118 others(27): Show c.1189-2303_1189-2302insGTATATAT	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	13/13			chr3	TogoVar
HGD_chr3_120623172_120687239	120669447	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01175.hp1 others(9): Show HG01074.hp1 HG01106.hp1 HG01175.hp1 HG01358.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 NA18939.hp2 NA18971.hp1 NA19005.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0079 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0079 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0004t0001g0068	12	374	0.0321	8	c.282 others(23): Show c.282+972_282+979dupTGTGTGTG	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	4/13			chr3	TogoVar
HGD_chr3_120623172_120687239	120669447	G G	GCGCGCAC others(1): Show GCGCGCACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02965.hp1 others(1): Show HG02280.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0341 others(1): Show a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0341 a0001c0001t0001g0342	4	374	0.0107	8	c.282 others(23): Show c.282+979_282+980insTGTGCGCG	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	4/13			chr3	TogoVar
HGF_chr7_81694010_81775047	81736894	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01123.hp2 HG01192.hp1 others(36): Show HG00558.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01361.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02129.hp2 HG02165.hp1 HG02280.hp1 HG02486.hp2 HG02615.hp2 HG02647.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp2 HG03704.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18984.hp1 NA19002.hp2 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0002c0003t0001 a0003c0006t0001	a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0035 others(35): Show a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0075 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0237 a0001c0001t0003g0007 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0240 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0005g0107 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0003g0091 a0001c0002t0006g0088 a0002c0003t0001g0059 a0003c0006t0001g0179	39	272	0.1434	8	c.865 others(25): Show c.865+6451_865+6458dupACACACAC	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding	7/17			chr7	TogoVar
HGSNAT_chr8_43135464_43207855	43149118	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01978.hp1 HG02004.hp1 others(4): Show HG00735.hp1 HG01978.hp1 HG02004.hp1 HG02976.hp1 HG03195.hp2 NA18988.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0148 a0001c0001t0001g0149 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0161	7	234	0.0299	8	c.234 others(25): Show c.234+2079_234+2086dupTAAATAAA	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HHAT_chr1_210323902_210681290	210336287	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02922.hp2 others(3): Show HG01884.hp2 HG02145.hp2 HG02922.hp2 HG02970.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0002g0186 others(3): Show a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0002g0186 a0001c0001t0002g0205 a0001c0001t0003g0206 a0001c0001t0009g0207	6	268	0.0224	8	c.-44 others(25): Show c.-44+7199_-44+7206dupTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210340242	G G	GGGGAAAA others(1): Show GGGGAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02572.hp1 others(4): Show HG01891.hp1 HG02559.hp2 HG02572.hp1 HG02717.hp2 HG03453.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008	a0001c0001t0002g0125 a0001c0001t0005g0213 a0001c0001t0006g0084 others(4): Show a0001c0001t0002g0125 a0001c0001t0005g0213 a0001c0001t0006g0084 a0001c0002t0001g0124 a0001c0002t0001g0128 a0001c0002t0004g0127 a0001c0002t0008g0126	7	268	0.0261	8	c.-43 others(25): Show c.-43-8691_-43-8690insGGGAAAAA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11			chr1	TogoVar
HHAT_chr1_210323902_210681290	210348736	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp2 others(76): Show HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03516.hp1 HG03540.hp1 HG03834.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18961.hp1 NA18973.hp1 NA18974.hp1 NA18982.hp1 NA18985.hp1 NA18992.hp1 NA18992.hp2 NA19007.hp2 NA19010.hp2 NA19062.hp1 NA19065.hp2 NA19080.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0009 a0003c0004 a0005c0008 a0006c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0024 a0002c0009t0001 a0003c0004t0004 a0005c0008t0003 a0006c0011t0004 a0008c0010t0002	a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0096 others(76): Show a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0200 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0001g0268 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0104 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0186 a0001c0001t0002g0219 a0001c0001t0003g0181 a0001c0001t0003g0198 a0001c0001t0003g0206 a0001c0001t0003g0217 a0001c0001t0003g0232 a0001c0001t0003g0254 a0001c0001t0004g0182 a0001c0001t0004g0220 a0001c0001t0004g0225 a0001c0001t0005g0073 a0001c0001t0005g0203 a0001c0001t0005g0218 a0001c0001t0006g0001 a0001c0001t0006g0193 a0001c0001t0006g0197 a0001c0001t0007g0070 a0001c0001t0007g0074 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0191 a0001c0001t0007g0201 a0001c0001t0007g0202 a0001c0001t0009g0143 a0001c0001t0009g0207 a0001c0001t0010g0067 a0001c0001t0010g0196 a0001c0001t0016g0222 a0001c0002t0002g0184 a0001c0002t0008g0141 a0001c0002t0011g0015 a0001c0002t0011g0016 a0001c0002t0012g0068 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0230 a0002c0003t0001g0237 a0002c0003t0001g0249 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0267 a0002c0003t0002g0109 a0002c0003t0002g0216 a0002c0003t0002g0247 a0002c0003t0002g0259 a0002c0003t0002g0261 a0002c0003t0002g0265 a0002c0003t0003g0234 a0002c0003t0004g0119 a0002c0003t0004g0122 a0002c0003t0024g0246 a0002c0009t0001g0266 a0003c0004t0004g0139 a0005c0008t0003g0253 a0006c0011t0004g0142 a0008c0010t0002g0131	79	268	0.2948	8	c.-43 others(23): Show c.-43-178_-43-171dupGTGTGTGT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210491064	A A	AGAGAGTG others(1): Show AGAGAGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp1 NA21309.hp1 HG03453.hp1 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0194 a0001c0002t0001g0124 a0001c0002t0008g0126 a0001c0001t0001g0194 a0001c0002t0001g0124 a0001c0002t0008g0126	3	268	0.0112	8	c.100 others(29): Show c.1008-22088_1008-22087insAGAGTGTG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar

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