Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HERC5_chr4_88452119_88511163	88501986	G G	GACGGTTT others(12): Show GACGGTTTAGTAGAGTAGTA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	330	0.0030	19	c.258 others(38): Show c.2582+1003_2582+1004insGGTTTAGTAGAGTAGTAAC		HERC5	ENSG00000138646.9	transcript	ENST00000264350.8	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379687	A A	AATATATA others(12): Show AATATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18906.hp2 HG01891.hp1 NA18906.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0002 a0001c0001t0001 a0008c0010t0002	a0001c0001t0001g0171 a0008c0010t0002g0006 a0001c0001t0001g0171 a0008c0010t0002g0006	2	174	0.0115	19	c.199 others(34): Show c.199+574_199+575insTAATATATAAATATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379912	T T	TATATAAA others(12): Show TATATAAATATATATATAAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01169.hp1 others(14): Show HG00639.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG02647.hp1 HG02723.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp1 NA18522.hp2 NA18612.hp1 NA18941.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0001 a0002c0002t0001 a0005c0007t0001 a0001c0001t0001 a0002c0002t0001 a0005c0007t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(14): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0136 a0002c0002t0001g0109 a0002c0002t0001g0118 a0002c0002t0001g0134 a0002c0002t0001g0139 a0005c0007t0001g0110 a0005c0007t0001g0112 a0005c0007t0001g0113	17	174	0.0977	19	c.199 others(34): Show c.199+807_199+808insTAACATATAAATATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379954	A A	AATATATA others(12): Show AATATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG01884.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0088 a0001c0001t0001g0089	2	174	0.0115	19	c.199 others(34): Show c.199+842_199+860dupTAATATATAAATATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380007	A A	AATATATA others(12): Show AATATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp2 NA19064.hp1 HG00639.hp2 HG01346.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0002c0005 a0001c0019 a0002c0005	a0001c0019t0001 a0002c0005t0001 a0001c0019t0001 a0002c0005t0001	a0001c0019t0001g0077 a0002c0005t0001g0078 a0002c0005t0001g0081 a0001c0019t0001g0077 a0002c0005t0001g0078 a0002c0005t0001g0081	3	174	0.0172	19	c.199 others(34): Show c.199+895_199+913dupTAATATATAAATATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380060	A A	AATATATA others(12): Show AATATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	174	0.0058	19	c.199 others(34): Show c.199+948_199+966dupTAATATATAAATATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380347	A A	AATATAAA others(12): Show AATATAAATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0015 a0003c0003t0001g0015	1	174	0.0058	19	c.199 others(36): Show c.199+1245_199+1263dupATATATAAATATATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88391996	T T	TTCTCCCT others(12): Show TTCTCCCTCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 homoSapiens_chm13v2.hp1 HG01496.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0055 a0002c0005t0001g0074 a0002c0002t0001g0055 a0002c0005t0001g0074	2	174	0.0115	19	c.664 others(36): Show c.664+1147_664+1165dupCTCCCCTTCTCTCCCTCCC		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HES4_chr1_993964_1005097	996596	A A	AGGACCCC others(12): Show AGGACCCCCCGCTGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(186): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0004 a0006	a0000c0005 a0001c0001 a0002c0002 others(2): Show a0000c0005 a0001c0001 a0002c0002 a0004c0007 a0006c0004	a0000c0005t0001 a0001c0001t0001 a0002c0002t0001 others(2): Show a0000c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0007t0001 a0006c0004t0001	a0000c0005t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0014 others(3): Show a0000c0005t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0014 a0002c0002t0001g0006 a0004c0007t0001g0016 a0006c0004t0001g0010	189	396	0.4773	19	c.24 others(30): Show c.2462_*2463insCCCCTCCAGCGGGGGGTCC		HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding					2367		chr1	TogoVar
HES4_chr1_993964_1005097	998757	C C	CGCGGAGG others(12): Show CGCGGAGGGGAGGGCGCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	19	c.30 others(28): Show c.301_*302insTCCGCGCCCTCCCCTCCGC		HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding					206		chr1	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0053 a0002c0004t0001g0053	1	400	0.0025	19	c.283 others(34): Show c.283-566_283-565insAAAAAAAAAAAAAAAAATA		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0044 a0002c0004t0001g0044	1	400	0.0025	19	c.283 others(34): Show c.283-566_283-565insAAAAAAATATATATATATA		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433128	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0140	1	400	0.0025	19	c.283 others(34): Show c.283-529_283-528insATATATATTTTTTTTTTTT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HEY2_chr6_125744632_125766269	125757275	G G	GACCAAAA others(12): Show GACCAAAATGTGAAATCTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	400	0.0025	19	c.329 others(36): Show c.329-1841_329-1823dupACCAAAATGTGAAATCTTT		HEY2	ENSG00000135547.9	transcript	ENST00000368364.4	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
HFM1_chr1_91255766_91409837	91264361	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp1 others(15): Show HG00140.hp2 HG00408.hp1 HG00438.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG02074.hp2 HG02486.hp1 HG02683.hp1 HG03831.hp2 HG03942.hp1 NA18943.hp2 NA18956.hp2 NA18990.hp1 NA18991.hp2 NA19012.hp2 NA19077.hp1 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0002c0003 others(1): Show a0001c0001 a0001c0007 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0007t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0002c0003t0001 a0004c0006t0001	a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 others(15): Show a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0007t0001g0189 a0002c0003t0001g0330 a0002c0003t0001g0339 a0004c0006t0001g0188 a0004c0006t0001g0190	18	362	0.0497	19	c.397 others(38): Show c.3974+1637_3974+1655dupAAAAAAAAAAAAAAAAAAA		HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	36/38						chr1	TogoVar
HFM1_chr1_91255766_91409837	91264376	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0244 a0006c0010t0001g0244	1	362	0.0028	19	c.397 others(38): Show c.3974+1640_3974+1641insGAAAAAAAAAAAAAAAAAA		HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	36/38						chr1	TogoVar
HGH1_chr8_144132774_144145851	144138200	A A	ATTTATTT others(12): Show ATTTATTTCTTGTACTTTTT	frameshift_variant frameshift_variant	HIGH	NA18971.hp1 NA18971.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0001 a0005c0012t0001g0001	1	342	0.0029	19	c.365 others(26): Show c.365_366insTTTATTTCTTGTACTTTTT	p.Glu others(5): Show p.Glu122fs	HGH1	ENSG00000235173.7	transcript	ENST00000347708.5	protein_coding	1/6	428/2534	366/1173	122/390			chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43174997	A A	AACATGTG others(12): Show AACATGTGAAGTTTGTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(158): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18953.hp1 NA18970.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA19000.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0008 a0005c0007 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0005t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0009 a0003c0003t0004 a0003c0003t0010 a0004c0008t0003 a0005c0007t0001 a0006c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(151): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0002g0071 a0001c0001t0006g0186 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0008g0168 a0001c0001t0008g0169 a0001c0001t0012g0170 a0001c0001t0013g0222 a0001c0005t0001g0215 a0002c0002t0003g0001 a0002c0002t0003g0153 a0002c0002t0003g0154 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0213 a0002c0002t0003g0226 a0002c0002t0005g0193 a0002c0002t0005g0194 a0002c0002t0005g0195 a0002c0002t0005g0196 a0002c0002t0005g0197 a0002c0002t0009g0192 a0002c0002t0009g0199 a0003c0003t0004g0191 a0003c0003t0004g0216 a0003c0003t0004g0217 a0003c0003t0004g0218 a0003c0003t0004g0219 a0003c0003t0004g0221 a0003c0003t0010g0220 a0004c0008t0003g0198 a0005c0007t0001g0124 a0006c0006t0001g0088	161	234	0.6880	19	c.851 others(36): Show c.851+1259_851+1260insTGAAGTTTGTCTTCACATG		HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr8	TogoVar
HHAT_chr1_210323902_210681290	210326117	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	268	0.0037	19	c.-30 others(30): Show c.-3031_-3030insTTTTTTTTTTTTTTTTTTT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding					2784		chr1	TogoVar
HHAT_chr1_210323902_210681290	210334178	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03540.hp2 NA18522.hp1 others(1): Show HG03471.hp2 HG03540.hp2 NA18522.hp1 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0012 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0012 a0002c0003t0003	a0001c0001t0002g0125 a0001c0002t0001g0124 a0001c0002t0012g0123 others(1): Show a0001c0001t0002g0125 a0001c0002t0001g0124 a0001c0002t0012g0123 a0002c0003t0003g0234	4	268	0.0149	19	c.-44 others(36): Show c.-44+5076_-44+5094dupTTTTTTTTTTTTTTTTTTT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210336287	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp2 HG01258.hp2 others(11): Show HG01175.hp1 HG01255.hp2 HG01258.hp2 HG02071.hp2 HG02135.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 NA18951.hp2 NA18982.hp2 NA18998.hp1 NA19010.hp2 NA19080.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0022 a0002c0003t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(11): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0002g0088 a0001c0001t0002g0112 a0001c0001t0003g0097 a0001c0001t0003g0146 a0001c0001t0004g0087 a0001c0001t0005g0013 a0001c0001t0006g0114 a0001c0001t0022g0113 a0002c0003t0001g0120	14	268	0.0522	19	c.-44 others(36): Show c.-44+7188_-44+7206dupTTTTTTTTTTTTTTTTTTT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210386230	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01257.hp1 HG01516.hp2 others(10): Show HG01070.hp1 HG01257.hp1 HG01516.hp2 HG01981.hp1 HG02071.hp2 HG02109.hp1 HG02300.hp2 HG02572.hp2 HG03195.hp2 HG03492.hp2 NA18951.hp2 NA18977.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0022 a0001c0002t0003	a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0111 others(10): Show a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0111 a0001c0001t0001g0150 a0001c0001t0001g0185 a0001c0001t0002g0088 a0001c0001t0002g0107 a0001c0001t0003g0103 a0001c0001t0006g0102 a0001c0001t0006g0211 a0001c0001t0014g0209 a0001c0001t0022g0113 a0001c0002t0003g0101	13	268	0.0485	19	c.160 others(36): Show c.160-1235_160-1234insCTTTTTTTTTTTTTTTTTT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210494542	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18955.hp1 NA18982.hp1 HG02922.hp2 NA18955.hp1 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0002c0003t0003 a0001c0001t0001 a0001c0001t0004 a0002c0003t0003	a0001c0001t0001g0204 a0001c0001t0004g0220 a0002c0003t0003g0234 a0001c0001t0001g0204 a0001c0001t0004g0220 a0002c0003t0003g0234	3	268	0.0112	19	c.100 others(40): Show c.1008-18602_1008-18584dupTTTTTTTTTTTTTTTTTTT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210569373	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03831.hp1 HG02886.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0162 a0001c0002t0001g0049 a0001c0001t0002g0162 a0001c0002t0001g0049	2	268	0.0075	19	c.104 others(40): Show c.1044-18517_1044-18499dupAAAAAAAAAAAAAAAAAAA		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHIP_chr4_144641156_144750271	144645137	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0176 a0001c0001t0005g0176	1	316	0.0032	19	c.-15 others(30): Show c.-1539_-1538insGTGTGTGTGTGTGTGTGTG		HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding					1018		chr4	TogoVar
HHLA1_chr8_132056480_132116157	132070011	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02273.hp1 HG00280.hp2 HG02273.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0002 a0001c0005 a0003c0002	a0001c0005t0001 a0003c0002t0001 a0001c0005t0001 a0003c0002t0001	a0001c0005t0001g0060 a0003c0002t0001g0244 a0001c0005t0001g0060 a0003c0002t0001g0244	2	380	0.0053	19	c.146 others(38): Show c.1469+1328_1469+1329insCCCCCCCCCCCCCCCCCCC		HHLA1	ENSG00000132297.13	transcript	ENST00000414222.2	protein_coding	15/16						chr8	TogoVar
HHLA1_chr8_132056480_132116157	132102706	G G	GATGCCCC others(12): Show GATGCCCCAGGCTACCAGGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20129.hp2 HG02809.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0024 a0001c0005t0001 a0001c0001t0024 a0001c0005t0001	a0001c0001t0024g0356 a0001c0005t0001g0355 a0001c0001t0024g0356 a0001c0005t0001g0355	2	380	0.0053	19	c.139 others(36): Show c.139+1401_139+1402insGCCTGGTAGCCTGGGGCAT		HHLA1	ENSG00000132297.13	transcript	ENST00000414222.2	protein_coding	3/16						chr8	TogoVar
HIBADH_chr7_27520442_27667883	27527917	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG01175.hp2 others(2): Show HG00323.hp2 HG01109.hp2 HG01175.hp2 HG01891.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0115 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0115 a0001c0001t0003g0130 a0001c0001t0003g0138	5	326	0.0153	19	c.853 others(36): Show c.853-1546_853-1545insAAAAAAAAAAAAAAAAAAA		HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	7/7						chr7	TogoVar
HIF3A_chr19_46292042_46348433	46293851	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0027 a0001c0001t0047g0027	1	418	0.0024	19	c.-32 others(30): Show c.-3226_-3225insAAAAAAAAAAAAAAAAAAA		HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding					3190		chr19	TogoVar
HIGD2B_chr15_72670798_72691182	72687124	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG00738.hp2 others(62): Show HG00597.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02074.hp1 HG02080.hp1 HG02155.hp1 HG02615.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG04184.hp1 HG04184.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18949.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19070.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(29): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0128 a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0005g0051 a0002c0002t0001g0006 a0002c0002t0001g0025 a0002c0002t0001g0119	65	436	0.1491	19	c.-15 others(30): Show c.-1500_-1499insAAAAAAAAAAAAAAAAAAA		HIGD2B	ENSG00000175202.6	transcript	ENST00000311755.6	protein_coding					943		chr15	TogoVar
HIGD2B_chr15_72670798_72691182	72688411	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00735.hp2 others(15): Show HG00099.hp2 HG00558.hp1 HG00735.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp2 HG02258.hp1 HG02698.hp2 HG02735.hp1 HG03017.hp1 HG03139.hp1 HG03942.hp1 HG06807.hp1 NA19030.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0001c0001t0001 a0001c0001t0003 a0001c0004t0003	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0044 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0004t0003g0056	18	436	0.0413	19	c.-28 others(30): Show c.-2805_-2787dupAAAAAAAAAAAAAAAAAAA		HIGD2B	ENSG00000175202.6	transcript	ENST00000311755.6	protein_coding					2230		chr15	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00741.hp1 others(4): Show HG00642.hp2 HG00733.hp1 HG00741.hp1 HG02717.hp2 HG02895.hp1 HG03453.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0232 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0270	7	398	0.0176	19	c.268 others(38): Show c.268+11823_268+11841dupAAAAAAAAAAAAAAAAAAA		HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
HINT2_chr9_35807960_35820042	35814490	C C	CTGACCTC others(12): Show CTGACCTCCGAGCCGCTTCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	420	0.0024	19	c.81+ others(32): Show c.81+390_81+408dupAGAAGCGGCTCGGAGGTCA		HINT2	ENSG00000137133.11	transcript	ENST00000259667.6	protein_coding	1/4						chr9	TogoVar
HIP1_chr7_75528298_75743941	75551189	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0012 a0001c0001t0011g0012	1	254	0.0039	19	c.229 others(38): Show c.2296-2207_2296-2189dupAAAAAAAAAAAAAAAAAAA		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	22/30						chr7	TogoVar
HIPK1_chr1_113924324_113982869	113938927	A A	AAATATAC others(12): Show AAATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0327 a0001c0002t0001g0327	1	382	0.0026	19	c.-2- others(34): Show c.-2-1454_-2-1453insATATACACACACACACACA		HIPK1	ENSG00000163349.22	transcript	ENST00000426820.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
HIPK1_chr1_113924324_113982869	113938927	A A	ATATACAC others(12): Show ATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0185 a0002c0013t0001g0185	1	382	0.0026	19	c.-2- others(34): Show c.-2-1455_-2-1454insTATACACACACACACACAC		HIPK1	ENSG00000163349.22	transcript	ENST00000426820.7	protein_coding	1/15						chr1	TogoVar
HIRA_chr22_19325698_19436733	19390601	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01258.hp2 others(8): Show HG00609.hp1 HG00735.hp1 HG01258.hp2 HG01261.hp1 NA18951.hp2 NA18968.hp2 NA18989.hp2 NA19056.hp2 NA19062.hp2 NA19077.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0327 a0001c0001t0003g0330 a0001c0001t0003g0331 others(8): Show a0001c0001t0003g0327 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0349	11	364	0.0302	19	c.936 others(36): Show c.936+1481_936+1499dupTTTTTTTTTTTTTTTTTTT		HIRA	ENSG00000100084.14	transcript	ENST00000263208.5	protein_coding	9/24						chr22	TogoVar
HIVEP1_chr6_12007312_12169999	12046876	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0088 a0003c0003t0001g0088	1	344	0.0029	19	c.40+ others(36): Show c.40+31208_40+31209insGTGTGTGTGTGTGTGTGTG		HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	2/8						chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12141691	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03516.hp2 HG03688.hp2 HG00099.hp2 HG03516.hp2 HG03688.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0006c0009 a0004c0004 a0006c0009	a0004c0004t0001 a0006c0009t0001 a0004c0004t0001 a0006c0009t0001	a0004c0004t0001g0205 a0004c0004t0001g0332 a0006c0009t0001g0199 a0004c0004t0001g0205 a0004c0004t0001g0332 a0006c0009t0001g0199	3	344	0.0087	19	c.648 others(38): Show c.6487+5810_6487+5828dupAAAAAAAAAAAAAAAAAAA		HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142803597	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	288	0.0035	19	c.-52 others(40): Show c.-527-19983_-527-19982insGTGTGTGTGTGTGTGTGTG		HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9						chr6	TogoVar
HJURP_chr2_233831702_233859535	233854928	C C	CAGGGGGG others(12): Show CAGGGGGGGGGGGGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0159 a0007c0008t0001g0159	1	450	0.0022	19	c.-42 others(28): Show c.-429_-428insTCCCCCCCCCCCCCCCCCT		HJURP	ENSG00000123485.12	transcript	ENST00000411486.7	protein_coding					394		chr2	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG02015.hp1 NA19070.hp1 others(1): Show HG01517.hp2 HG02015.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0002g0074 a0001c0002t0002g0061 a0001c0003t0001g0151 others(1): Show a0001c0001t0002g0074 a0001c0002t0002g0061 a0001c0003t0001g0151 a0001c0003t0002g0077	4	280	0.0143	19	c.-28 others(30): Show c.-2863_-2862insAAAATATATATATATATAT		HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding					2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAATATAT others(12): Show AAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG03688.hp2 others(2): Show HG00423.hp2 HG00639.hp1 HG03688.hp2 HG03942.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0073 a0001c0001t0002g0107 a0001c0001t0002g0112 others(2): Show a0001c0001t0002g0073 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0196 a0001c0003t0001g0256	5	280	0.0179	19	c.-28 others(30): Show c.-2863_-2862insAATATATATATATATATAT		HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding					2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	ATATATAT others(12): Show ATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	280	0.0036	19	c.-28 others(30): Show c.-2863_-2862insTATATATATATATATATAT		HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding					2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69354215	T T	TGTGTCTC others(12): Show TGTGTCTCACATGATGGCAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp1 HG02809.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0013 a0001c0005 a0001c0013	a0001c0005t0023 a0001c0013t0003 a0001c0005t0023 a0001c0013t0003	a0001c0005t0023g0017 a0001c0013t0003g0257 a0001c0005t0023g0017 a0001c0013t0003g0257	2	280	0.0071	19	c.239 others(36): Show c.239-5665_239-5664insAGGTGTCTCACATGATGGC		HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
HK1_chr10_69313847_69406882	69354215	T T	TGTGTCTC others(12): Show TGTGTCTCACATGATGGCAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp1 HG02809.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0006 a0001c0014t0002 a0001c0005t0006 a0001c0014t0002	a0001c0005t0006g0175 a0001c0014t0002g0161 a0001c0005t0006g0175 a0001c0014t0002g0161	2	296	0.0068	19	c.227 others(36): Show c.227-5665_227-5664insAGGTGTCTCACATGATGGC		HK1	ENSG00000156515.25	transcript	ENST00000359426.7	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
HKDC1_chr10_69215332_69272552	69238368	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0232 a0001c0003t0001g0232	1	380	0.0026	19	c.496 others(34): Show c.496-673_496-655dupTTTTTTTTTTTTTTTTTTT		HKDC1	ENSG00000156510.13	transcript	ENST00000354624.6	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
HLA-DQB1_chr6_32654467_32671657	32656216	T T	TTTATTTC others(12): Show TTTATTTCATCTCTGCAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0004 a0006c0005t0005g0004	1	402	0.0025	19	c.40 others(30): Show c.4019_*4020insGGCTGCAGAGATGAAATAA		HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding					3250		chr6	TogoVar
HLA-DQB1_chr6_32654467_32671657	32663413	C C	CCTTGAAA others(12): Show CCTTGAAAGTATCATTTTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(148): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0009 a0010 a0017	a0001c0001 a0002c0002 a0004c0004 others(4): Show a0001c0001 a0002c0002 a0004c0004 a0008c0008 a0009c0010 a0010c0009 a0017c0016	a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 others(9): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0002c0002t0002 a0004c0004t0001 a0008c0008t0008 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0017c0016t0008	a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 others(17): Show a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 a0001c0001t0014g0021 a0001c0001t0014g0033 a0002c0002t0002g0031 a0004c0004t0001g0002 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0004t0001g0036 a0008c0008t0008g0008 a0008c0008t0008g0051 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0017c0016t0008g0052	151	402	0.3756	19	c.380 others(36): Show c.380-1166_380-1165insACAAAATGATACTTTCAAG		HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding	2/4						chr6	TogoVar
HLA-DRA_chr6_32434887_32450046	32435620	A A	ACACACAC others(12): Show ACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	459	0.0022	19	c.-43 others(30): Show c.-4331_-4330insCACACACACACACACACAC		HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding					4266		chr6	TogoVar

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