Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
GUCY1A2_chr11_106669019_107023476	107015561	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0247 a0001c0003t0004g0247	1	256	0.0039	-22	c.303 others(39): Show c.303+2170_303+2191delTTTTTTTTTTTTTTTTTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	1/7			chr11	TogoVar
GULP1_chr2_188286874_188600926	188323648	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp1 HG01891.hp1 others(10): Show HG01099.hp2 HG01192.hp1 HG01891.hp1 HG02145.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG02896.hp2 HG03139.hp1 HG03516.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0029	a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0008g0032 others(10): Show a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0008g0037 a0001c0001t0010g0014 a0001c0001t0011g0026 a0001c0001t0011g0027 a0001c0001t0011g0030 a0001c0001t0029g0004	13	162	0.0803	-22	c.-17 others(43): Show c.-172+31484_-172+31505delATGTGTGTGTGTGTGTGTGTGT	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GYG2_chrX_2823930_2887818	2845368	CACGTGTG others(15): Show CACGTGTGTATGTATATTTATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0066 a0002c0002t0012g0067 a0002c0002t0012g0066 a0002c0002t0012g0067	2	316	0.0063	-22	c.149 others(39): Show c.149+2017_149+2038delGTGTGTATGTATATTTATATAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845464	CACGTGTG others(15): Show CACGTGTGTATGTATATTTATAT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	316	0.0032	-22	c.149 others(39): Show c.149+2113_149+2134delGTGTGTATGTATATTTATATAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845488	CACGTGTG others(15): Show CACGTGTGTATGTATATTTATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG01070.hp2 others(29): Show HG00323.hp2 HG00438.hp2 HG01070.hp2 HG01175.hp1 HG01978.hp2 HG02071.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02523.hp2 HG02602.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG04199.hp1 HG04228.hp1 NA18942.hp1 NA18956.hp1 NA18981.hp2 NA19001.hp1 NA19004.hp1 NA19056.hp1 NA19065.hp1 NA19068.hp1 NA19076.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0013	a0001c0001 a0002c0002 a0005c0009 others(2): Show a0001c0001 a0002c0002 a0005c0009 a0007c0020 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0005c0009t0002 a0007c0020t0003 a0013c0017t0005	a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0196 others(29): Show a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0001g0268 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0183 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0065 a0001c0001t0003g0213 a0001c0001t0003g0218 a0001c0001t0003g0232 a0001c0001t0003g0295 a0001c0001t0004g0309 a0002c0002t0001g0047 a0002c0002t0001g0179 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0252 a0002c0002t0003g0207 a0002c0002t0003g0237 a0002c0002t0004g0235 a0002c0002t0004g0302 a0002c0002t0007g0193 a0005c0009t0002g0212 a0007c0020t0003g0007 a0013c0017t0005g0243	32	316	0.1013	-22	c.149 others(39): Show c.149+2137_149+2158delGTGTGTATGTATATTTATATAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2857148	ATCTATCT others(15): Show ATCTATCTATCTAGACCTAGATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00621.hp1 others(52): Show HG00099.hp1 HG00099.hp2 HG00621.hp1 HG00741.hp2 HG01074.hp1 HG01358.hp1 HG01516.hp2 HG01891.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02280.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp1 HG03195.hp1 HG03239.hp1 HG03491.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18950.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18979.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18993.hp1 NA18998.hp1 NA19005.hp1 NA19009.hp1 NA19058.hp1 NA19060.hp1 NA19080.hp1 NA19083.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0009	a0001c0001 a0002c0002 a0002c0005 others(3): Show a0001c0001 a0002c0002 a0002c0005 a0004c0008 a0008c0014 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0013 a0002c0002t0016 a0002c0002t0019 a0002c0005t0002 a0002c0005t0006 a0002c0005t0007 a0004c0008t0006 a0008c0014t0018 a0009c0013t0005	a0001c0001t0001g0135 a0001c0001t0001g0285 a0001c0001t0002g0149 others(52): Show a0001c0001t0001g0135 a0001c0001t0001g0285 a0001c0001t0002g0149 a0002c0002t0001g0032 a0002c0002t0001g0146 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0170 a0002c0002t0002g0144 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0174 a0002c0002t0003g0010 a0002c0002t0003g0136 a0002c0002t0003g0166 a0002c0002t0003g0168 a0002c0002t0003g0207 a0002c0002t0003g0237 a0002c0002t0003g0299 a0002c0002t0004g0006 a0002c0002t0004g0021 a0002c0002t0004g0080 a0002c0002t0004g0082 a0002c0002t0004g0137 a0002c0002t0004g0145 a0002c0002t0004g0148 a0002c0002t0004g0151 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0167 a0002c0002t0004g0169 a0002c0002t0004g0171 a0002c0002t0004g0172 a0002c0002t0004g0175 a0002c0002t0004g0215 a0002c0002t0004g0235 a0002c0002t0004g0297 a0002c0002t0004g0300 a0002c0002t0004g0302 a0002c0002t0004g0310 a0002c0002t0006g0051 a0002c0002t0010g0157 a0002c0002t0013g0311 a0002c0002t0016g0272 a0002c0002t0019g0143 a0002c0005t0002g0176 a0002c0005t0006g0104 a0002c0005t0007g0018 a0002c0005t0007g0020 a0004c0008t0006g0019 a0008c0014t0018g0147 a0009c0013t0005g0037	55	316	0.1741	-22	c.614 others(37): Show c.614+546_614+567delGTCTATCTATCTAGACCTAGAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYPC_chr2_126651158_126701667	126663950	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(168): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0003c0003 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0002c0004t0001 a0003c0003t0001 a0005c0007t0002	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0017 others(140): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0340 a0001c0001t0001g0349 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0323 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0005g0031 a0001c0001t0006g0215 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0044 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0141 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0183 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0212 a0001c0002t0001g0245 a0001c0002t0001g0255 a0001c0002t0001g0313 a0001c0002t0001g0316 a0001c0002t0001g0321 a0001c0002t0001g0325 a0001c0002t0001g0327 a0001c0002t0001g0332 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0364 a0001c0002t0001g0367 a0001c0002t0003g0358 a0001c0002t0003g0365 a0001c0002t0004g0256 a0002c0004t0001g0144 a0003c0003t0001g0008 a0005c0007t0002g0322 a0005c0007t0002g0326	171	416	0.4111	-22	c.49+ others(37): Show c.49+7668_49+7689delCTCTCTCTCTCTCTCTCTCTCT	GYPC	ENSG00000136732.16	transcript	ENST00000259254.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
GYS1_chr19_48963130_48998309	48979336	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	390	0.0026	-22	c.117 others(41): Show c.1170-1201_1170-1180delAAAAAAAAAAAAAAAAAAAAAA	GYS1	ENSG00000104812.15	transcript	ENST00000323798.8	protein_coding	8/15			chr19	TogoVar
GYS2_chr12_21531107_21609847	21565390	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp2 others(4): Show HG00642.hp1 HG01069.hp1 HG01071.hp2 HG01934.hp2 HG02602.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0004 a0002c0002t0001g0136 a0002c0002t0001g0149 others(3): Show a0002c0002t0001g0004 a0002c0002t0001g0136 a0002c0002t0001g0149 a0002c0002t0001g0154 a0002c0002t0001g0268 a0002c0002t0002g0153	7	312	0.0224	-22	c.824 others(39): Show c.824-2067_824-2046delATATATATATATATATATATAT	GYS2	ENSG00000111713.3	transcript	ENST00000261195.3	protein_coding	5/15			chr12	TogoVar
GYS2_chr12_21531107_21609847	21607130	CATATATA others(15): Show CATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	312	0.0032	-22	c.-25 others(33): Show c.-2560_-2539delATATATATATATATATATATAT	GYS2	ENSG00000111713.3	transcript	ENST00000261195.3	protein_coding		2284		chr12	TogoVar
GZMM_chr19_539053_554922	544444	TAGGACTG others(15): Show TAGGACTGCCCAGCTGGGAGGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02451.hp2 others(7): Show HG01891.hp1 HG02145.hp2 HG02451.hp2 HG02630.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 a0001c0001t0001 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0161 a0001c0001t0001g0224 a0001c0001t0001g0225 others(2): Show a0001c0001t0001g0161 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0002t0001g0160 a0003c0004t0001g0005	10	398	0.0251	-22	c.55+ others(35): Show c.55+321_55+342delGACTGCCCAGCTGGGAGGGCAG	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
H1-8_chr3_129538175_129556467	129540468	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00673.hp1 others(58): Show HG00544.hp2 HG00558.hp1 HG00673.hp1 HG00673.hp2 HG01255.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03710.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18960.hp2 NA18966.hp2 NA18973.hp1 NA18975.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19068.hp1 NA19077.hp1 NA19079.hp2 NA19085.hp2 NA19090.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0010 a0012	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0005c0007 a0010c0015 a0012c0021	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0005c0007t0001 a0010c0015t0001 a0012c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0027 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0003g0001 a0001c0001t0003g0038 a0001c0003t0001g0001 a0002c0002t0001g0091 a0005c0007t0001g0001 a0010c0015t0001g0003 a0012c0021t0001g0001	61	422	0.1446	-22	c.-27 others(33): Show c.-2750_-2729delTATATATATATATATATATATA	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		2706		chr3	TogoVar
H2AC8_chr6_26211921_26222437	26212569	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18955.hp1 NA18973.hp1 others(9): Show NA18945.hp2 NA18955.hp1 NA18973.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp2 NA19054.hp1 NA19072.hp1 NA19078.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	12	362	0.0332	-22	c.-44 others(33): Show c.-4405_-4384delTTTTTTTTTTTTTTTTTTTTTT	H2AC8	ENSG00000277075.3	transcript	ENST00000303910.5	protein_coding		4351		chr6	TogoVar
H2BC8_chr6_26211200_26221688	26212569	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18955.hp1 NA18973.hp1 others(9): Show NA18945.hp2 NA18955.hp1 NA18973.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp2 NA19054.hp1 NA19072.hp1 NA19078.hp2 NA19087.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0000 a0001c0004t0001g0000	12	366	0.0328	-22	c.36 others(33): Show c.3672_*3693delAAAAAAAAAAAAAAAAAAAAAA	H2BC8	ENSG00000273802.3	transcript	ENST00000541790.4	protein_coding		3630		chr6	TogoVar
H4C15_chr1_149855764_149866159	149865948	AAAGAAAG others(15): Show AAAGAAAGAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03579.hp1 HG02486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	206	0.0097	-22	c.-48 others(33): Show c.-4839_-4818delCTTTCTTTCTTTCTTCTTTCTT	H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding		4790		chr1	TogoVar
HAAO_chr2_42762089_42797583	42786009	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01123.hp1 others(28): Show HG00323.hp2 HG00639.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01981.hp2 HG02148.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02738.hp1 HG02886.hp2 HG02922.hp2 HG03669.hp1 HG03927.hp1 HG03927.hp2 NA18612.hp1 NA18953.hp1 NA18968.hp2 NA18972.hp1 NA18990.hp1 NA19012.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0199 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0199 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0351 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0383 a0001c0001t0002g0363 a0001c0001t0002g0366 a0001c0001t0002g0373 a0002c0002t0001g0190 a0002c0002t0001g0262	31	410	0.0756	-22	c.160 others(39): Show c.160-2164_160-2143delCACACACACACACACACACACA	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding	2/9			chr2	TogoVar
HABP4_chr9_96445169_96496336	96456772	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	306	0.0033	-22	c.350 others(39): Show c.350-1605_350-1584delAAAAAAAATATATATATATATA	HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
HACD3_chr15_65525463_65583349	65537948	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02602.hp1 HG04204.hp1 others(5): Show HG01433.hp1 HG02602.hp1 HG04204.hp1 NA18612.hp1 NA18992.hp2 NA19003.hp2 NA19010.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0040 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0178	8	328	0.0244	-22	c.87+ others(37): Show c.87+7232_87+7253delAAAAAAAAAATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537950	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01346.hp2 NA18965.hp2 others(5): Show HG01070.hp2 HG01346.hp2 NA18965.hp2 NA19000.hp1 NA19011.hp1 NA19060.hp1 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(5): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0190 a0001c0001t0001g0195	8	328	0.0244	-22	c.87+ others(37): Show c.87+7234_87+7255delAAAAAAAATATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537952	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01952.hp1 HG01993.hp2 others(5): Show HG00733.hp2 HG01952.hp1 HG01993.hp2 HG02040.hp2 HG02148.hp1 HG02273.hp2 NA18947.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0020 a0001c0001t0001 a0001c0001t0008 a0001c0002t0020	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0008g0180 a0001c0002t0020g0251	8	328	0.0244	-22	c.87+ others(37): Show c.87+7236_87+7257delAAAAAATATATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537954	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	328	0.0031	-22	c.87+ others(37): Show c.87+7238_87+7259delAAAATATATATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACE1_chr6_104723094_104864919	104727457	ATATATGA others(15): Show ATATATGAATACACACACATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	346	0.0029	-22	c.21 others(33): Show c.2183_*2204delCATATGTGTGTGTATTCATATA	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		636		chr6	TogoVar
HACE1_chr6_104723094_104864919	104831946	AAGAGAAG others(15): Show AAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02615.hp1 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0078 a0001c0002t0001g0081	2	346	0.0058	-22	c.534 others(39): Show c.534+1074_534+1095delCTTCTCTTCTCTTCTCTTCTCT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HAGH_chr16_1802629_1831825	1820036	TGGGCTGC others(15): Show TGGGCTGCCTGCTGAGCTGAGGG	T T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	436	0.0023	-22	c.315 others(35): Show c.315-44_315-23delCCCTCAGCTCAGCAGGCAGCCC	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	3/8			chr16	TogoVar
HAO1_chr20_7877985_7945458	7909360	CATATATA others(15): Show CATATATATATATATATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	348	0.0029	-22	c.546 others(39): Show c.546-3053_546-3032delATACATATATATATATATATAT	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAO2_chr1_119363785_119399130	119379156	GACACATG others(15): Show GACACATGTAAAATGTTACCTAC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0261 a0001c0001t0004g0261	1	428	0.0023	-22	c.-8- others(37): Show c.-8-1921_-8-1900delACACATGTAAAATGTTACCTAC	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	1/7			chr1	TogoVar
HAPLN1_chr5_83632805_83725855	83648395	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0356 a0001c0001t0012g0356	1	372	0.0027	-22	c.473 others(39): Show c.473-3752_473-3731delTATATATATATATATATATATA	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	3/4			chr5	TogoVar
HARBI1_chr11_46597861_46622227	46622076	CATATATA others(15): Show CATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	258	0.0039	-22	c.-51 others(33): Show c.-5119_-5098delATATATATATATATATATATAT	HARBI1	ENSG00000180423.4	transcript	ENST00000326737.3	protein_coding		4850		chr11	TogoVar
HAT1_chr2_171917461_171988686	171970496	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp1 HG01517.hp2 others(3): Show HG01109.hp2 HG01168.hp1 HG01517.hp2 HG02647.hp1 HG02735.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0063 a0001c0001t0001g0064 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0248 a0001c0001t0001g0252	6	326	0.0184	-22	c.823 others(39): Show c.823+3567_823+3588delTTTTTTTTTTTTTTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS8_chr19_17044729_17080452	17055139	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0296 a0002c0001t0002g0296	1	400	0.0025	-22	c.787 others(37): Show c.787+700_787+721delATATATATATATATATATTTTT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055143	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19064.hp2 HG00673.hp1 NA19064.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0001 a0004c0006t0001 a0001c0002t0001 a0004c0006t0001	a0001c0002t0001g0054 a0004c0006t0001g0280 a0001c0002t0001g0054 a0004c0006t0001g0280	2	400	0.0050	-22	c.787 others(37): Show c.787+696_787+717delATATATATATATATATATATAT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157057386	GGAAAGAA others(15): Show GGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	352	0.0028	-22	c.46+ others(35): Show c.46+490_46+511delTCTTTCTTTCTTTCTTTCTTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	2/8			chr5	TogoVar
HAVCR2_chr5_157080832_157114044	157092878	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	380	0.0026	-22	c.676 others(39): Show c.676+2406_676+2427delTTTTTTTTTTTTTTTTTTTTTT	HAVCR2	ENSG00000135077.10	transcript	ENST00000307851.9	protein_coding	5/6			chr5	TogoVar
HAX1_chr1_154267629_154280875	154276566	CTTACTTT others(15): Show CTTACTTTACTGGCCTTAAAAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00673.hp2 others(55): Show HG00140.hp2 HG00597.hp1 HG00673.hp2 HG00735.hp2 HG01071.hp1 HG01074.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02083.hp2 HG02109.hp1 HG02273.hp2 HG02486.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp2 NA18942.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18977.hp2 NA18980.hp2 NA18989.hp1 NA18994.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19082.hp2 NA20300.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0018 a0005c0004t0001g0001	58	392	0.1480	-22	c.86 others(31): Show c.866_*887delTTACTTTACTGGCCTTAAAAAG	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		692		chr1	TogoVar
HBB_chr11_5220464_5232071	5229719	AACACACA others(15): Show AACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02717.hp1 others(9): Show HG01192.hp2 HG01243.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03130.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0002 a0001c0002t0001g0004	12	488	0.0246	-22	c.-27 others(33): Show c.-2720_-2699delGTGTGTGTGTGTGTGTGTGTGT	HBB	ENSG00000244734.4	transcript	ENST00000335295.4	protein_coding		2649		chr11	TogoVar
HBD_chr11_5227838_5239483	5229719	AACACACA others(15): Show AACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG02717.hp1 others(9): Show HG01192.hp1 HG01243.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03130.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	12	460	0.0261	-22	c.32 others(33): Show c.3223_*3244delGTGTGTGTGTGTGTGTGTGTGT	HBD	ENSG00000223609.11	transcript	ENST00000650601.1	protein_coding		3118		chr11	TogoVar
HBS1L_chr6_134955378_135059822	135035750	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0028 a0001c0007t0028	a0001c0007t0028g0305 a0001c0007t0028g0305	1	348	0.0029	-22	c.430 others(39): Show c.430+3801_430+3822delTTTTTTTTTTTTTTTTTTTTTT	HBS1L	ENSG00000112339.15	transcript	ENST00000367837.10	protein_coding	4/17			chr6	TogoVar
HCFC2_chr12_104059531_104111524	104087410	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	382	0.0026	-22	c.123 others(39): Show c.1231+407_1231+428delGTGTGTGTGTGTGTGTGTGTGT	HCFC2	ENSG00000111727.12	transcript	ENST00000229330.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
HCK_chr20_32047242_32106856	32054475	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03195.hp1 HG03209.hp1 HG02602.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0145 a0001c0002t0001g0216 a0001c0002t0001g0288 a0001c0001t0001g0145 a0001c0002t0001g0216 a0001c0002t0001g0288	3	290	0.0103	-22	c.62+ others(37): Show c.62+2017_62+2038delAAAAAAAAAAAAAAAAAAAAAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN1_chr5_45249948_45701380	45363132	TTATATAT others(15): Show TTATATATATATACATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02647.hp2 others(4): Show HG01167.hp1 HG01169.hp2 HG02647.hp2 HG03041.hp2 HG03471.hp2 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 others(4): Show a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0023g0075 a0001c0001t0024g0007 a0001c0001t0031g0009 a0001c0001t0032g0010	7	226	0.0310	-22	c.123 others(41): Show c.1231-9908_1231-9887delTATATATATGTATATATATATA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45375187	TATATATA others(15): Show TATATATAATATAATATTTTATA	T T	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0175 a0001c0001t0040g0175	1	226	0.0044	-22	c.123 others(43): Show c.1230+21283_1230+21304delTATAAAATATTATATTATATAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45539919	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0081 a0001c0001t0017g0081	1	226	0.0044	-22	c.850 others(41): Show c.850-77934_850-77913delATATATATATATATATATATAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	2/7			chr5	TogoVar
HCN2_chr19_584881_622159	599847	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0004 a0001c0079t0004	a0001c0079t0004g0028 a0001c0079t0004g0028	1	408	0.0025	-22	c.633 others(39): Show c.633-3668_633-3647delGTGTGTGTGTGTGTGTGTGTGT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	604338	GGCTATGA others(15): Show GGCTATGAGGGTGCAGGGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0001 a0002c0036t0001	a0002c0036t0001g0008 a0002c0036t0001g0008	2	408	0.0049	-22	c.105 others(39): Show c.1056+376_1056+397delTGAGGGTGCAGGGGTGGAGCTA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN4_chr15_73314859_73373958	73372324	AACACACA others(15): Show AACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02559.hp1 others(17): Show HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02886.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18991.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19083.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0023 a0001c0002t0003 a0001c0003t0001 a0009c0021t0006	a0001c0001t0001g0062 a0001c0001t0001g0246 a0001c0001t0002g0066 others(15): Show a0001c0001t0001g0062 a0001c0001t0001g0246 a0001c0001t0002g0066 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0068 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0006g0289 a0001c0001t0023g0067 a0001c0002t0003g0011 a0001c0003t0001g0009 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0061 a0001c0003t0001g0069 a0009c0021t0006g0294	20	344	0.0581	-22	c.-40 others(33): Show c.-4076_-4055delGTGTGTGTGTGTGTGTGTGTGT	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		3367		chr15	TogoVar
HCRTR2_chr6_55169515_55287617	55187411	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG03486.hp2 others(2): Show HG02257.hp2 HG02451.hp2 HG03486.hp2 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 others(2): Show a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0003t0002g0101	5	368	0.0136	-22	c.223 others(41): Show c.223+12618_223+12639delAAAAAAAAAAAAAAAAAAAAAA	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HCRTR2_chr6_55169515_55287617	55280734	CATGATTT others(15): Show CATGATTTACAAAAATATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02647.hp2 HG03453.hp2 others(3): Show HG01175.hp1 HG02647.hp2 HG03453.hp2 HG04115.hp2 HG04204.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0199 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0199 a0001c0001t0001g0234 a0001c0001t0001g0363 a0001c0001t0001g0364	6	368	0.0163	-22	c.110 others(39): Show c.1105+292_1105+313delTGATTTACAAAAATATAAAATA	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HCRT_chr17_42179060_42190452	42187582	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02622.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	378	0.0053	-22	c.-22 others(33): Show c.-2239_-2218delAAAAAAAAAAAAAAAAAAAAAA	HCRT	ENSG00000161610.1	transcript	ENST00000293330.1	protein_coding		2131		chr17	TogoVar
HDAC1_chr1_32287083_32338626	32338445	CAGCTCCT others(15): Show CAGCTCCTTCCTCCCCAGCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	146	0.0069	-22	c.54 others(33): Show c.5402_*5423delAGCTCCTTCCTCCCCAGCTGCT	HDAC1	ENSG00000116478.12	transcript	ENST00000373548.8	protein_coding		4820		chr1	TogoVar
HDAC2_chr6_113928028_113976148	113930731	TCTCTCTC others(15): Show TCTCTCTCTCTCTCCCTCTCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	402	0.0025	-22	c.10 others(35): Show c.10305_*10326delGGAGAGAGGGAGAGAGAGAGAG	HDAC2	ENSG00000196591.12	transcript	ENST00000519065.6	protein_coding		2296		chr6	TogoVar

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