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
HELZ2_chr20_63553086_63579239	63570988	ACCCACTC others(18): Show ACCCACTCCTGTGCTCCCGGGACAAG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0111 a0002c0002t0111	a0002c0002t0111g0345 a0002c0002t0111g0345	1	390	0.0026	-25	c.279 others(40): Show c.279-145_279-121delCTTGTCCCGGGAGCACAGGAGTGGG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HEPH_chrX_66159247_66272389	66206339	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	218	0.0046	-25	c.229 others(42): Show c.2292-837_2292-813delTTTTTTTTTTTTTTTTTTTTTTTTT	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	13/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
HERC1_chr15_63603618_63838948	63737375	TATATATA others(18): Show TATATATATATATATCGTTTTTCCAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01069.hp1 others(15): Show HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01074.hp1 HG01109.hp2 HG01168.hp1 HG01192.hp2 HG01884.hp1 HG01891.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp2 HG02818.hp2 HG02922.hp1 HG03139.hp1 HG03471.hp2 NA20300.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0006 a0002c0005 a0002c0010 others(1): Show a0001c0006 a0002c0005 a0002c0010 a0010c0021	a0001c0006t0001 a0002c0005t0001 a0002c0010t0001 others(1): Show a0001c0006t0001 a0002c0005t0001 a0002c0010t0001 a0010c0021t0005	a0001c0006t0001g0108 a0002c0005t0001g0202 a0002c0005t0001g0203 others(15): Show a0001c0006t0001g0108 a0002c0005t0001g0202 a0002c0005t0001g0203 a0002c0005t0001g0204 a0002c0005t0001g0205 a0002c0005t0001g0207 a0002c0005t0001g0208 a0002c0005t0001g0209 a0002c0005t0001g0210 a0002c0005t0001g0211 a0002c0005t0001g0212 a0002c0005t0001g0213 a0002c0010t0001g0189 a0002c0010t0001g0199 a0002c0010t0001g0201 a0002c0010t0001g0206 a0002c0010t0001g0214 a0010c0021t0005g0200	18	216	0.0833	-25	c.252 others(44): Show c.2521-2551_2521-2527delCTGGAAAAACGATATATATATATAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63737456	TATATATA others(18): Show TATATATATATATATCTTTTTTCCAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp1 HG02572.hp1 HG03471.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0195 a0001c0015t0001g0196 a0001c0015t0001g0195 a0001c0015t0001g0196	2	216	0.0093	-25	c.252 others(44): Show c.2521-2632_2521-2608delCTGGAAAAAAGATATATATATATAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63826795	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0205 a0002c0005t0001g0205	1	216	0.0046	-25	c.-27 others(42): Show c.-27+7007_-27+7031delATATATTTTTTTTTTTTTTTTTTTT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63826797	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01069.hp1 others(10): Show HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01168.hp1 HG01192.hp2 HG01884.hp1 HG01891.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp2 HG02922.hp1 HG03139.hp1 HG03471.hp2	a0002 a0010 a0002 a0010	a0002c0005 a0002c0010 a0010c0021 a0002c0005 a0002c0010 a0010c0021	a0002c0005t0001 a0002c0010t0001 a0010c0021t0005 a0002c0005t0001 a0002c0010t0001 a0010c0021t0005	a0002c0005t0001g0202 a0002c0005t0001g0203 a0002c0005t0001g0204 others(10): Show a0002c0005t0001g0202 a0002c0005t0001g0203 a0002c0005t0001g0204 a0002c0005t0001g0207 a0002c0005t0001g0208 a0002c0005t0001g0209 a0002c0005t0001g0210 a0002c0005t0001g0211 a0002c0005t0001g0212 a0002c0005t0001g0213 a0002c0010t0001g0199 a0002c0010t0001g0206 a0010c0021t0005g0200	13	216	0.0602	-25	c.-27 others(42): Show c.-27+7005_-27+7029delATATATATTTTTTTTTTTTTTTTTT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63826799	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02818.hp2 NA20300.hp1 HG01109.hp2 HG02818.hp2 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0189 a0002c0010t0001g0201 a0002c0010t0001g0214 a0002c0010t0001g0189 a0002c0010t0001g0201 a0002c0010t0001g0214	3	216	0.0139	-25	c.-27 others(42): Show c.-27+7003_-27+7027delATATATATATTTTTTTTTTTTTTTT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERPUD2_chr7_35627659_35700135	35691895	TAAACTTA others(18): Show TAAACTTACTAAATCTAGTAACTATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02486.hp1 others(9): Show HG01109.hp2 HG01243.hp2 HG02486.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(9): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0005g0001 a0001c0001t0005g0102	12	392	0.0306	-25	c.147 others(42): Show c.147+2264_147+2288delTATAGTTACTAGATTTAGTAAGTTT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HEXB_chr5_74680233_74726288	74690649	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp2 others(60): Show HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00621.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 HG02647.hp1 HG02896.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.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 NA19004.hp1 NA19005.hp1 NA19056.hp1 NA19065.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 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	a0001c0001t0001g0015 a0001c0001t0001g0081 a0001c0001t0001g0082 others(47): Show a0001c0001t0001g0015 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0003c0003t0001g0005 a0003c0003t0001g0009 a0003c0003t0001g0024 a0003c0003t0001g0026 a0003c0003t0001g0180 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0186 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0195 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0209 a0003c0003t0001g0211 a0003c0003t0001g0217 a0003c0003t0002g0001 a0003c0003t0002g0025 a0003c0003t0002g0181 a0003c0003t0002g0184 a0003c0003t0002g0185 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0196 a0003c0003t0002g0200 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0210 a0003c0003t0002g0216 a0009c0011t0001g0194	63	396	0.1591	-25	c.445 others(42): Show c.445+1202_445+1226delAAAAAAAAAAAAAAAAAAAAAAAAA	HEXB	ENSG00000049860.14	transcript	ENST00000261416.12	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
HEXD_chr17_82413347_82447645	82433116	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18966.hp2 NA18988.hp2 NA18963.hp1 NA18966.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	3	400	0.0075	-25	c.283 others(40): Show c.283-540_283-516delATATATATATATTTTTTTTTTTTTT	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HGD_chr3_120623172_120687239	120680858	CCAGTTCC others(18): Show CCAGTTCCAACTTCTCTCTGAAGACT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02886.hp1 HG03225.hp1 HG00735.hp1 HG02886.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087	3	374	0.0080	-25	c.15+ others(40): Show c.15+1214_15+1238delAGTCTTCAGAGAGAAGTTGGAACTG	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	1/13			chr3	TogoVar
HHIPL1_chr14_99640129_99685569	99646787	AATATAAT others(18): Show AATATAATATGATATGATATGATATG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0156	1	374	0.0027	-25	c.255 others(42): Show c.255+1330_255+1354delAATATGATATGATATGATATGATAT	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL1_chr14_99640129_99685569	99646792	AATATGAT others(18): Show AATATGATATGATATGATATGATATG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	374	0.0027	-25	c.255 others(42): Show c.255+1350_255+1374delGATATGATATGATATGATATGATAT	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL1_chr14_99640129_99685569	99646817	GATATGAT others(18): Show GATATGATATGATATGATATAATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00621.hp1 others(59): Show HG00140.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02074.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02809.hp1 HG03654.hp2 HG03927.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18944.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18991.hp1 NA18994.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp2 NA19074.hp2 NA19081.hp1 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0002c0004 others(1): Show a0001c0003 a0002c0001 a0002c0004 a0003c0008	a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 others(7): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0015 a0001c0003t0030 a0002c0001t0001 a0002c0004t0001 a0002c0004t0005 a0002c0004t0026 a0003c0008t0001	a0001c0003t0001g0015 a0001c0003t0002g0006 a0001c0003t0002g0087 others(57): Show a0001c0003t0001g0015 a0001c0003t0002g0006 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0099 a0001c0003t0002g0101 a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0003t0002g0321 a0001c0003t0002g0322 a0001c0003t0002g0324 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0332 a0001c0003t0002g0333 a0001c0003t0002g0334 a0001c0003t0002g0336 a0001c0003t0002g0338 a0001c0003t0002g0339 a0001c0003t0002g0340 a0001c0003t0002g0341 a0001c0003t0002g0342 a0001c0003t0002g0343 a0001c0003t0002g0344 a0001c0003t0002g0345 a0001c0003t0002g0346 a0001c0003t0002g0347 a0001c0003t0002g0348 a0001c0003t0002g0349 a0001c0003t0002g0350 a0001c0003t0002g0351 a0001c0003t0008g0353 a0001c0003t0015g0328 a0001c0003t0015g0330 a0001c0003t0030g0089 a0002c0001t0001g0104 a0002c0004t0001g0014 a0002c0004t0001g0093 a0002c0004t0001g0100 a0002c0004t0001g0152 a0002c0004t0001g0153 a0002c0004t0001g0154 a0002c0004t0001g0155 a0002c0004t0001g0323 a0002c0004t0001g0325 a0002c0004t0001g0329 a0002c0004t0001g0331 a0002c0004t0001g0337 a0002c0004t0005g0102 a0002c0004t0005g0103 a0002c0004t0026g0335 a0003c0008t0001g0352	62	374	0.1658	-25	c.255 others(42): Show c.255+1360_255+1384delGATATGATATGATATAATATAATAT	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL2_chr1_222517264_222553104	222552222	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(35): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00738.hp2 HG01169.hp1 HG01884.hp1 HG02129.hp2 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG03225.hp2 HG03486.hp2 NA18940.hp2 NA18948.hp2 NA18950.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18983.hp1 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA19009.hp2 NA19010.hp2 NA19054.hp1 NA19054.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19090.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0002c0005 others(5): Show a0001c0001 a0001c0003 a0002c0005 a0002c0011 a0003c0002 a0003c0007 a0004c0006 a0006c0012	a0001c0001t0001 a0001c0003t0001 a0002c0005t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0002c0005t0001 a0002c0011t0001 a0003c0002t0001 a0003c0007t0001 a0004c0006t0001 a0006c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0026 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0169 a0001c0003t0001g0196 a0001c0003t0001g0203 a0001c0003t0001g0215 a0002c0005t0001g0005 a0002c0005t0001g0035 a0002c0005t0001g0199 a0002c0005t0001g0200 a0002c0005t0001g0201 a0002c0005t0001g0202 a0002c0005t0001g0209 a0002c0005t0001g0210 a0002c0005t0001g0213 a0002c0005t0001g0214 a0002c0011t0001g0186 a0003c0002t0001g0001 a0003c0002t0001g0078 a0003c0002t0001g0081 a0003c0007t0001g0204 a0003c0007t0001g0206 a0003c0007t0001g0262 a0004c0006t0001g0019 a0004c0006t0001g0037 a0004c0006t0001g0300 a0006c0012t0001g0034 a0006c0012t0001g0207	38	418	0.0909	-25	c.-42 others(36): Show c.-4203_-4179delTTTTTTTTTTTTTTTTTTTTTTTTT	HHIPL2	ENSG00000143512.13	transcript	ENST00000343410.7	protein_coding		4119		chr1	TogoVar
HHIP_chr4_144641156_144750271	144684232	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18962.hp1 NA19006.hp1 others(1): Show NA18940.hp2 NA18962.hp1 NA19006.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0040 a0001c0001t0002 a0001c0001t0016 a0001c0001t0040	a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0016g0048 others(1): Show a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0016g0048 a0001c0001t0040g0027	4	316	0.0127	-25	c.832 others(44): Show c.832-22279_832-22255delTTTTTTTTTTTTTTTTTTTTTTTTT	HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
HHLA1_chr8_132056480_132116157	132105909	TCCTTCTC others(18): Show TCCTTCTCTGCAGCACTCTGTGCCTG	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	380	0.0026	-25	c.-21 others(40): Show c.-21-648_-21-624delCAGGCACAGAGTGCTGCAGAGAAGG	HHLA1	ENSG00000132297.13	transcript	ENST00000414222.2	protein_coding	1/16			chr8	TogoVar
HIP1_chr7_75528298_75743941	75637989	CCCCCACA others(18): Show CCCCCACACACACACATACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03654.hp2 HG02723.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0160 a0001c0002t0004g0048 a0001c0001t0001g0160 a0001c0002t0004g0048	2	254	0.0079	-25	c.121 others(44): Show c.121-38767_121-38743delTGTGTGTGTATGTGTGTGTGTGGGG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75637991	CCCACACA others(18): Show CCCACACACACACATACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0253 a0001c0001t0023g0253	1	254	0.0039	-25	c.121 others(44): Show c.121-38769_121-38745delTGTGTGTGTGTATGTGTGTGTGTGG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75637993	CACACACA others(18): Show CACACACACACATACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18906.hp2 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0011 a0001c0001t0004 a0001c0002t0011	a0001c0001t0004g0020 a0001c0002t0011g0102 a0001c0001t0004g0020 a0001c0002t0011g0102	2	254	0.0079	-25	c.121 others(44): Show c.121-38771_121-38747delTGTGTGTGTGTGTATGTGTGTGTGT	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIPK2_chr7_139556570_139782998	139690367	TTGATGTT others(18): Show TTGATGTTTGTCCCCCTCCAATCTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02572.hp1 others(1): Show HG02055.hp1 HG02109.hp1 HG02572.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0041 a0001c0001t0068 a0001c0003t0045 others(1): Show a0001c0001t0041 a0001c0001t0068 a0001c0003t0045 a0001c0003t0048	a0001c0001t0041g0026 a0001c0001t0068g0015 a0001c0003t0045g0028 others(1): Show a0001c0001t0041g0026 a0001c0001t0068g0015 a0001c0003t0045g0028 a0001c0003t0048g0027	4	154	0.0260	-25	c.110 others(46): Show c.1103+25540_1103+25564delTAAGATTGGAGGGGGACAAACATC A	HIPK2	ENSG00000064393.16	transcript	ENST00000406875.8	protein_coding	2/14			chr7	TogoVar
HIVEP1_chr6_12007312_12169999	12107859	TGTTTTGA others(18): Show TGTTTTGACAGGGCGCTGATTGGTGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02622.hp2 others(2): Show HG01243.hp1 HG01884.hp1 HG02622.hp2 HG02723.hp1 HG02922.hp1	a0007 a0030 a0031 a0007 a0030 a0031	a0007c0012 a0030c0026 a0031c0027 a0007c0012 a0030c0026 a0031c0027	a0007c0012t0001 a0030c0026t0001 a0031c0027t0001 a0007c0012t0001 a0030c0026t0001 a0031c0027t0001	a0007c0012t0001g0078 a0007c0012t0001g0079 a0007c0012t0001g0327 others(2): Show a0007c0012t0001g0078 a0007c0012t0001g0079 a0007c0012t0001g0327 a0030c0026t0001g0219 a0031c0027t0001g0203	5	344	0.0145	-25	c.95- others(42): Show c.95-12026_95-12002delTGACAGGGCGCTGATTGGTGCGTTT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142818712	AAAGAAAG others(18): Show AAAGAAAGAAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0095 a0001c0020t0001g0095	1	288	0.0035	-25	c.-52 others(46): Show c.-528+18198_-528+18222delCTTTTCTTTCTTTCTTTTCTTTCT T	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HK1_chr10_69273496_69406882	69388177	AGCCAAGG others(18): Show AGCCAAGGCAGGAGGAACTTTGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18985.hp1 NA19067.hp1 NA18964.hp2 NA18985.hp1 NA19067.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0007 a0001c0009t0001 a0001c0009t0007	a0001c0009t0001g0048 a0001c0009t0007g0192 a0001c0009t0007g0195 a0001c0009t0001g0048 a0001c0009t0007g0192 a0001c0009t0007g0195	3	280	0.0107	-25	c.194 others(43): Show c.1948-1002_1948-978delTTTGGGAGGCCAAGGCAGGAGGAAC	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
HK1_chr10_69313847_69406882	69388177	AGCCAAGG others(18): Show AGCCAAGGCAGGAGGAACTTTGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18985.hp1 NA19067.hp2 NA18964.hp1 NA18985.hp1 NA19067.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0203 a0001c0010t0001g0206 a0001c0010t0001g0231 a0001c0010t0001g0203 a0001c0010t0001g0206 a0001c0010t0001g0231	3	296	0.0101	-25	c.193 others(43): Show c.1936-1002_1936-978delTTTGGGAGGCCAAGGCAGGAGGAAC	HK1	ENSG00000156515.25	transcript	ENST00000359426.7	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
HMBOX1_chr8_28885395_29058262	28896004	CTCCTCAG others(18): Show CTCCTCAGACTTTGACATAAATCAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	344	0.0029	-25	c.-58 others(42): Show c.-58+5327_-58+5351delTCCTCAGACTTTGACATAAATCAAA	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	1/9			chr8	TogoVar
HMCN1_chr1_185729391_186195949	186021535	TAGTTCGA others(18): Show TAGTTCGATCTTTAAAAATTATGGCA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0047 a0047	a0047c0014 a0047c0014	a0047c0014t0001 a0047c0014t0001	a0047c0014t0001g0055 a0047c0014t0001g0055	1	92	0.0109	-25	c.562 others(44): Show c.5626-1494_5626-1470delAGTTCGATCTTTAAAAATTATGGCA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	35/106			chr1	TogoVar
HMOX2_chr16_4471398_4515347	4483199	GTGTGTGT others(18): Show GTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA19030.hp1 NA18997.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0125 a0001c0002t0001g0021 a0001c0001t0002g0125 a0001c0002t0001g0021	2	313	0.0064	-25	c.-42 others(42): Show c.-42+6714_-42+6738delGTGTGTGTGTGTGTGTGTGTGTGTT	HMOX2	ENSG00000103415.12	transcript	ENST00000570646.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
HNRNPUL1_chr19_41259372_41312787	41286121	TCAATTAA others(18): Show TCAATTAACACATAGGCTAGTGTCTA	T T	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	290	0.0035	-25	c.999 others(42): Show c.999+4852_999+4876delAACACATAGGCTAGTGTCTACAATT	HNRNPUL1	ENSG00000105323.18	transcript	ENST00000392006.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HOMEZ_chr14_23267422_23291132	23271066	TTTATGGG others(18): Show TTTATGGGACTATGATTCTGATTCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0186 a0001c0008t0004g0186	1	394	0.0025	-25	c.44 others(36): Show c.4484_*4508delTGGAATCAGAATCATAGTCCCATAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding		1355		chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23274182	TAAAACAT others(18): Show TAAAACATCAATAATTAATTCACTTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0230 a0002c0002t0028g0230	1	394	0.0025	-25	c.13 others(36): Show c.1368_*1392delTAAGTGAATTAATTATTGATGTTTT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	2/2	1368		chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23279725	ACCTGCCT others(18): Show ACCTGCCTTGGCCTCCCAAAGTGCTG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0187 a0002c0002t0022g0187	1	394	0.0025	-25	c.41- others(40): Show c.41-2563_41-2539delCAGCACTTTGGGAGGCCAAGGCAGG	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOOK1_chr1_59809949_59881322	59854026	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0063 a0006c0008t0063	a0006c0008t0063g0238 a0006c0008t0063g0238	1	252	0.0040	-25	c.124 others(44): Show c.1243-4400_1243-4376delATATATATATATTTTTTTTTTTTTT	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
HOXC8_chr12_54003985_54017769	54013995	TTCTCTTC others(18): Show TTCTCTTCTTTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	-25	c.26 others(36): Show c.2615_*2639delTCTCTTCTTTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1227		chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10312191	TCATCATC others(18): Show TCATCATCACTGTCATCATCAACATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0003t0001 a0001c0005t0004	a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0038 others(206): Show a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0288 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0238 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0304 a0001c0001t0002g0309 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0087 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0141 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0187 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0207 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0292 a0001c0001t0003g0298 a0001c0001t0003g0308 a0001c0001t0004g0032 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0074 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0105 a0001c0001t0004g0112 a0001c0001t0004g0144 a0001c0001t0004g0191 a0001c0001t0004g0195 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0240 a0001c0001t0004g0305 a0001c0001t0005g0273 a0001c0001t0005g0283 a0001c0001t0006g0001 a0001c0001t0008g0022 a0001c0001t0009g0043 a0001c0001t0010g0076 a0001c0001t0010g0224 a0001c0001t0013g0146 a0001c0001t0014g0145 a0001c0001t0015g0184 a0001c0001t0017g0185 a0001c0001t0018g0291 a0001c0001t0020g0143 a0001c0001t0021g0147 a0001c0003t0001g0274 a0001c0005t0004g0093	209	314	0.6656	-25	c.-11 others(44): Show c.-111+9032_-111+9056delTCAACATCCATCATCACTGTCATCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPGDS_chr4_94293535_94347836	94340305	CTTTCTCT others(18): Show CTTTCTCTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	312	0.0032	-25	c.-10 others(42): Show c.-10+2465_-10+2489delAAAAAAAAAAAAAAAAAAAGAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPSE2_chr10_98452077_99240852	99169504	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp1 HG02145.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0092 a0001c0001t0016g0124 a0001c0001t0001g0092 a0001c0001t0016g0124	2	142	0.0141	-25	c.449 others(44): Show c.449-25130_449-25106delTTTTTTTTTTTTTTTTTTTTTTTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HRH3_chr20_62209960_62225278	62213051	TGGGTGGG others(18): Show TGGGTGGGGGAAGGAGAGCGGGGATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	368	0.0027	-25	c.29 others(36): Show c.2930_*2954delCATCCCCGCTCTCCTTCCCCCACCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1908		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	87010756	CTGTTTTG others(18): Show CTGTTTTGTTTTGTTTTGTTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02723.hp1 others(8): Show HG02258.hp2 HG02572.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03041.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0007 a0001c0001t0010 a0003c0003t0007 a0001c0001t0007 a0001c0001t0010 a0003c0003t0007	a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0122 others(8): Show a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0010g0059 a0001c0001t0010g0060 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0010g0063 a0003c0003t0007g0051	11	154	0.0714	-25	c.125 others(44): Show c.125-62150_125-62126delTTTTGTTTTGTTTTGTTTTGTTTTG	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS6ST1_chr2_128260480_128323868	128294053	GGCCCTGC others(18): Show GGCCCTGCCCTCTCCTCTCTGCACCT	G G	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19058.hp2 NA19084.hp2 others(1): Show NA18980.hp2 NA19058.hp2 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0026 a0001c0001t0002 a0001c0001t0006 a0001c0001t0026	a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0006g0105 others(1): Show a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0006g0105 a0001c0001t0026g0106	4	294	0.0136	-25	c.527 others(44): Show c.527+23959_527+23983delAGGTGCAGAGAGGAGAGGGCAGGGC	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding	1/1			chr2	TogoVar
HS6ST1_chr2_128260480_128323868	128323186	TGTTGGGG others(18): Show TGTTGGGGATGTTCCCTGGGGGTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00735.hp2 others(57): Show HG00140.hp1 HG00423.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01981.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18950.hp1 NA18998.hp1 NA19030.hp2 NA19074.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(27): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0005t0016 a0001c0007t0003	a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0047 others(56): Show a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0080 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0083 a0001c0001t0008g0070 a0001c0001t0008g0081 a0001c0001t0008g0084 a0001c0001t0008g0086 a0001c0001t0011g0068 a0001c0001t0012g0072 a0001c0001t0012g0073 a0001c0001t0016g0062 a0001c0001t0016g0087 a0001c0001t0017g0050 a0001c0001t0017g0055 a0001c0001t0017g0064 a0001c0001t0020g0038 a0001c0001t0020g0039 a0001c0001t0022g0076 a0001c0001t0022g0077 a0001c0001t0023g0045 a0001c0001t0023g0085 a0001c0001t0024g0071 a0001c0001t0039g0018 a0001c0001t0040g0021 a0001c0001t0041g0019 a0001c0001t0042g0020 a0001c0001t0043g0017 a0001c0001t0044g0022 a0001c0001t0046g0040 a0001c0001t0048g0046 a0001c0001t0049g0074 a0001c0001t0050g0059 a0001c0001t0051g0075 a0001c0001t0052g0063 a0001c0001t0053g0057 a0001c0001t0054g0082 a0001c0001t0055g0078 a0001c0001t0058g0089 a0001c0001t0059g0090 a0001c0005t0016g0056 a0001c0007t0003g0023	60	294	0.2041	-25	c.-46 others(36): Show c.-4648_-4624delCCCACCCCCAGGGAACATCCCCAAC	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding		4319		chr2	TogoVar
HS6ST2_chrX_132621015_132963629	132637828	TTATATAT others(18): Show TTATATATAATATTTTATATATAATA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02922.hp1 others(2): Show HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0126 a0001c0002t0001g0079	5	201	0.0249	-25	c.106 others(44): Show c.1068-8760_1068-8736delTATTATATATAAAATATTATATATA	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4			chrX	TogoVar
HS6ST2_chrX_132621015_132963629	132637899	TAATATTA others(18): Show TAATATTATATATAATATTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	201	0.0050	-25	c.106 others(44): Show c.1068-8831_1068-8807delTATATAAAATATTATATATAATATT	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4			chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96118664	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	116	0.0086	-25	c.707 others(44): Show c.707+27097_707+27121delATATATATATATATATATATATATT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96118666	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02145.hp1 NA18960.hp2 HG01071.hp2 HG02145.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0001 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0109 a0001c0001t0003g0003 a0001c0001t0019g0014 a0001c0001t0001g0109 a0001c0001t0003g0003 a0001c0001t0019g0014	3	116	0.0259	-25	c.707 others(44): Show c.707+27099_707+27123delATATATATATATATATATATATTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96118668	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02523.hp1 HG02809.hp1 others(5): Show HG01361.hp1 HG02523.hp1 HG02809.hp1 HG02970.hp1 NA18947.hp1 NA18960.hp1 NA18979.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 a0001c0001t0001 a0001c0001t0002 a0001c0004t0003	a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0077 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0004t0003g0104	8	116	0.0690	-25	c.707 others(44): Show c.707+27101_707+27125delATATATATATATATATATATTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96118670	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01496.hp1 HG02055.hp2 others(5): Show HG00558.hp1 HG01496.hp1 HG02055.hp2 HG03195.hp2 HG03834.hp1 HG03834.hp2 NA18950.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0002c0002t0027	a0001c0001t0001g0097 a0001c0001t0002g0004 a0001c0001t0002g0096 others(5): Show a0001c0001t0001g0097 a0001c0001t0002g0004 a0001c0001t0002g0096 a0001c0001t0004g0095 a0001c0001t0004g0098 a0001c0001t0005g0013 a0001c0001t0012g0087 a0002c0002t0027g0092	8	116	0.0690	-25	c.707 others(44): Show c.707+27103_707+27127delATATATATATATATATATTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96118672	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp1 NA19043.hp1 HG02647.hp2 HG02896.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 a0001c0001t0002 a0001c0001t0007 a0001c0001t0025	a0001c0001t0002g0009 a0001c0001t0007g0007 a0001c0001t0025g0008 a0001c0001t0002g0009 a0001c0001t0007g0007 a0001c0001t0025g0008	3	116	0.0259	-25	c.707 others(44): Show c.707+27105_707+27129delATATATATATATATATTTTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96317348	ATATATAT others(18): Show ATATATATATATATATATATAAAATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0071 a0001c0001t0023g0071	1	116	0.0086	-25	c.707 others(46): Show c.707+225780_707+225804delTATATATATATATATATATAAAAT T	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96510086	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02132.hp2 NA18947.hp1 HG01074.hp1 HG02132.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0011 a0001c0004t0003 a0001c0001t0004 a0001c0001t0011 a0001c0004t0003	a0001c0001t0004g0016 a0001c0001t0011g0039 a0001c0004t0003g0104 a0001c0001t0004g0016 a0001c0001t0011g0039 a0001c0004t0003g0104	3	116	0.0259	-25	c.708 others(46): Show c.708-322370_708-322346delTATTTTATTTTATTTTATTTTATT T	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar

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