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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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
HPS5_chr11_18273676_18327140	18303464	GCAGAGCC others(14): Show GCAGAGCCAGATCATCAAAGGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	372	0.0027	-21	c.896 others(38): Show c.896+1937_896+1957delGCCTTTGATGATCTGGCTCTG	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	8/22			chr11	TogoVar
HPS5_chr11_18273676_18327140	18305958	TCCTGACC others(14): Show TCCTGACCTCAAGATCCGCCTG	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	372	0.0027	-21	c.824 others(36): Show c.824+156_824+176delCAGGCGGATCTTGAGGTCAGG	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	7/22			chr11	TogoVar
HPS5_chr11_18273676_18327140	18306981	CATCATTC others(14): Show CATCATTCCTCCTCAGAAACTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00609.hp1 others(59): Show HG00280.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG03225.hp2 HG03471.hp2 HG03688.hp2 HG03831.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19002.hp2 NA19006.hp2 NA19010.hp1 NA19056.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp1 NA19089.hp1 NA19091.hp2 NA20905.hp2	a0001 a0006 a0015 a0001 a0006 a0015	a0001c0001 a0001c0018 a0006c0006 others(1): Show a0001c0001 a0001c0018 a0006c0006 a0015c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0018t0002 a0006c0006t0002 a0015c0015t0012	a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0002g0012 others(57): Show a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0175 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0007g0242 a0001c0018t0002g0188 a0006c0006t0002g0254 a0006c0006t0002g0258 a0015c0015t0012g0072	62	372	0.1667	-21	c.612 others(36): Show c.612-655_612-635delAAGTTTCTGAGGAGGAATGAT	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	6/22			chr11	TogoVar
HPSE2_chr10_98452077_99240852	99169504	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG01993.hp2 others(8): Show HG00597.hp1 HG00673.hp1 HG01993.hp2 HG03209.hp1 NA18939.hp2 NA18950.hp2 NA18954.hp2 NA18962.hp1 NA18965.hp1 NA18974.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0002c0002t0013	a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0117 others(8): Show a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0003g0114 a0001c0001t0004g0112 a0001c0001t0004g0115 a0002c0002t0002g0061 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0013g0113	11	142	0.0775	-21	c.449 others(40): Show c.449-25126_449-25106delTTTTTTTTTTTTTTTTTTTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99184522	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp2 others(37): Show HG00099.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG01109.hp2 HG01167.hp1 HG01361.hp1 HG01361.hp2 HG01981.hp1 HG02055.hp1 HG02083.hp1 HG02135.hp1 HG02273.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02897.hp1 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03654.hp2 HG03710.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp1 NA18962.hp2 NA18966.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA19003.hp1 NA19009.hp2 NA19083.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0022 a0001c0001t0032 a0002c0002t0002 a0002c0002t0010 a0002c0002t0013 a0002c0002t0018 a0002c0002t0019 a0003c0003t0003 a0005c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0036 others(37): Show a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0004g0033 a0001c0001t0004g0064 a0001c0001t0004g0088 a0001c0001t0005g0091 a0001c0001t0008g0030 a0001c0001t0009g0049 a0001c0001t0009g0057 a0001c0001t0017g0053 a0001c0001t0017g0054 a0001c0001t0022g0035 a0001c0001t0032g0142 a0002c0002t0002g0029 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0002g0061 a0002c0002t0002g0087 a0002c0002t0010g0042 a0002c0002t0010g0056 a0002c0002t0013g0046 a0002c0002t0013g0063 a0002c0002t0018g0044 a0002c0002t0019g0089 a0003c0003t0003g0090 a0005c0005t0001g0085	40	142	0.2817	-21	c.449 others(40): Show c.449-40144_449-40124delTTTTTTTTTTTTTTTTTTTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HRH3_chr20_62209960_62225278	62213598	GAGCGGGG others(14): Show GAGCGGGGATGGGGGAGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-21	c.23 others(32): Show c.2387_*2407delTCTCCCTCCCCCATCCCCGCT	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1361		chr20	TogoVar
HS6ST3_chr13_96085107_96844562	96118672	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG03486.hp2 others(3): Show HG02965.hp1 HG03041.hp2 HG03486.hp2 HG06807.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0024	a0001c0001t0001g0065 a0001c0001t0007g0063 a0001c0001t0008g0062 others(3): Show a0001c0001t0001g0065 a0001c0001t0007g0063 a0001c0001t0008g0062 a0001c0001t0009g0059 a0001c0001t0015g0064 a0001c0001t0024g0060	6	116	0.0517	-21	c.707 others(40): Show c.707+27105_707+27125delATATATATATATATATTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96118676	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0090 a0001c0001t0014g0090	1	116	0.0086	-21	c.707 others(40): Show c.707+27109_707+27129delATATATATATATTTTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96138380	TATATATG others(14): Show TATATATGTTTACAGTTTATAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA21309.hp2 HG01106.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0105 a0001c0001t0001g0041 a0001c0001t0001g0105	2	116	0.0172	-21	c.707 others(40): Show c.707+46818_707+46838delGTTTACAGTTTATAAATATAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96138387	GTTTACAG others(14): Show GTTTACAGTTTATAAATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG01071.hp2 others(46): Show HG00099.hp2 HG00558.hp1 HG01071.hp2 HG01109.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG02055.hp2 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18947.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18979.hp2 NA18999.hp1 NA19007.hp2 NA19084.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0004t0003 a0002c0002t0027	a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0077 others(46): Show a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0003g0003 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0004g0016 a0001c0001t0004g0018 a0001c0001t0004g0095 a0001c0001t0004g0098 a0001c0001t0004g0110 a0001c0001t0005g0013 a0001c0001t0005g0085 a0001c0001t0008g0072 a0001c0001t0009g0084 a0001c0001t0010g0019 a0001c0001t0012g0080 a0001c0001t0012g0087 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0014g0090 a0001c0001t0016g0086 a0001c0001t0018g0010 a0001c0001t0019g0014 a0001c0001t0022g0078 a0001c0001t0026g0081 a0001c0001t0028g0076 a0001c0001t0030g0075 a0001c0001t0032g0017 a0001c0001t0035g0106 a0001c0001t0036g0001 a0001c0004t0003g0104 a0002c0002t0027g0092	49	116	0.4224	-21	c.707 others(40): Show c.707+46861_707+46881delTTTACAGTTTATAAATATATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254429	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	116	0.0086	-21	c.707 others(42): Show c.707+162862_707+162882delAAAAAAAAAAAAAAAAAAATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254437	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	116	0.0086	-21	c.707 others(42): Show c.707+162870_707+162890delAAAAAAAAAAATATATATATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96317352	ATATATAT others(14): Show ATATATATATATATATAAAATT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01261.hp1 HG01496.hp2 others(8): Show HG01071.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp2 HG03688.hp2 HG03834.hp2 HG04204.hp2 NA18950.hp1 NA18960.hp1 NA19084.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0033 a0002c0002t0027	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0002g0088 others(8): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0002g0088 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0069 a0001c0001t0010g0055 a0001c0001t0011g0058 a0001c0001t0017g0066 a0001c0001t0033g0044 a0002c0002t0027g0092	11	116	0.0948	-21	c.707 others(42): Show c.707+225784_707+225804delTATATATATATATATAAAATT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96668686	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03098.hp2 HG02080.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0110 a0001c0001t0007g0012 a0001c0001t0004g0110 a0001c0001t0007g0012	2	116	0.0172	-21	c.708 others(42): Show c.708-163784_708-163764delTTTTTTTTTTTTTTTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSD11B1L_chr19_5676027_5693522	5687200	CCTGGCCC others(14): Show CCTGGCCCCGCCCTCTGGGTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02486.hp1 others(5): Show HG02109.hp1 HG02258.hp1 HG02486.hp1 HG02970.hp2 HG02976.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0029	8	382	0.0209	-21	c.409 others(34): Show c.409-68_409-48delCTGGGTTTCTGGCCCCGCCCT	HSD11B1L	ENSG00000167733.14	transcript	ENST00000339423.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HSD17B11_chr4_87331515_87396188	87378944	ATATTTAT others(14): Show ATATTTATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18990.hp1 NA18993.hp2 others(4): Show NA18977.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA19004.hp1 NA19009.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0111 a0001c0001t0003g0112 others(4): Show a0001c0001t0003g0092 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0117	7	390	0.0180	-21	c.318 others(38): Show c.318+3290_318+3310delAAAAATATATATATATAAATA	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B12_chr11_43675738_43861615	43690383	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0256 a0002c0002t0002g0256	1	280	0.0036	-21	c.160 others(38): Show c.160+9397_160+9417delATATATATATATATATATATA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10			chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43690384	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG06807.hp2 HG01891.hp1 HG02280.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255	3	280	0.0107	-21	c.160 others(38): Show c.160+9399_160+9419delATATATATATATATATATATT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B13_chr4_87298794_87327882	87308485	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp1 HG03225.hp1 HG02055.hp2 HG02895.hp1 HG03225.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0178 a0004c0005t0007g0179 a0004c0005t0007g0230 a0004c0005t0007g0178 a0004c0005t0007g0179 a0004c0005t0007g0230	3	442	0.0068	-21	c.812 others(38): Show c.812+1737_812+1757delTTTTTTTTTTTTTTTTTTTTT	HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	6/6			chr4	TogoVar
HSD17B3_chr9_96230306_96307176	96255367	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG03098.hp2 others(1): Show HG01069.hp1 HG01071.hp1 HG03098.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0002g0313 a0001c0001t0002g0362 others(1): Show a0001c0001t0001g0146 a0001c0001t0002g0313 a0001c0001t0002g0362 a0001c0001t0002g0363	4	374	0.0107	-21	c.202 others(36): Show c.202-445_202-425delAAAAAAAAAAAAAAAAAAAAA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B4_chr5_119447497_119547332	119462248	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	380	0.0026	-21	c.112 others(38): Show c.112+5895_112+5915delTTTTTTTTTTTTTTTTTTTTT	HSD17B4	ENSG00000133835.18	transcript	ENST00000510025.7	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
HSD17B6_chr12_56758324_56792790	56767781	ATGTATAT others(14): Show ATGTATATATAATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18940.hp2 NA18945.hp1 others(13): Show HG02074.hp2 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18953.hp2 NA18963.hp1 NA18966.hp2 NA18981.hp1 NA18985.hp2 NA18998.hp2 NA19054.hp2 NA19055.hp1 NA19064.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0154 a0001c0001t0001g0155 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249	16	360	0.0444	-21	c.-20 others(38): Show c.-20+4398_-20+4418delAATATATATGTGTGTATATAT	HSD17B6	ENSG00000025423.11	transcript	ENST00000322165.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
HSD3B1_chr1_119502210_119520054	119510717	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02486.hp2 HG02818.hp1 others(1): Show HG01433.hp2 HG02486.hp2 HG02818.hp1 HG03139.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0024 a0004c0006t0001g0024	4	410	0.0098	-21	c.146 others(36): Show c.146-769_146-749delTTTTTTTTTTTTTTTTTTTTT	HSD3B1	ENSG00000203857.10	transcript	ENST00000369413.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD3B2_chr1_119410150_119428034	119418615	CTTTTATT others(14): Show CTTTTATTATTATTACTATTAT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19066.hp2 NA18954.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	2	442	0.0045	-21	c.143 others(36): Show c.143-801_143-781delTTTATTATTATTACTATTATT	HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD3B2_chr1_119410150_119428034	119418617	TTTATTAT others(14): Show TTTATTATTATTACTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02486.hp2 HG02109.hp1 HG02280.hp1 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0041 a0002c0003t0003g0069 a0002c0003t0003g0041 a0002c0003t0003g0069	3	442	0.0068	-21	c.143 others(36): Show c.143-788_143-768delCTATTATTATTATTATTATTA	HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSF1_chr8_144286604_144319720	144313644	CCCGCCCC others(14): Show CCCGCCCCGCCTCCCCGCCGCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0053 a0001c0009t0001g0053	1	330	0.0030	-21	c.124 others(36): Show c.1248+47_1248+67delGCGCCGCCCCGCCTCCCCGCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSP90AA1_chr14_102075742_102092044	102089954	GTGAGCTT others(14): Show GTGAGCTTTGAGAACACAGACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	398	0.0025	-21	c.-29 others(32): Show c.-2990_-2970delGGTCTGTGTTCTCAAAGCTCA	HSP90AA1	ENSG00000080824.19	transcript	ENST00000216281.13	protein_coding		2911		chr14	TogoVar
HSPA4_chr5_133047013_133111449	133106101	AATTTTTT others(14): Show AATTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0179 a0001c0001t0049g0179	1	364	0.0028	-21	c.16 others(32): Show c.1666_*1686delATTTTTTTTTTTTTTTTTTTT	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	19/19	1666		chr5	TogoVar
HSPB1_chr7_76297673_76309292	76299405	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA20905.hp2 HG04228.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	-21	c.-33 others(32): Show c.-3307_-3287delAAAAAAAAAAAAAAAAAAGAC	HSPB1	ENSG00000106211.10	transcript	ENST00000248553.7	protein_coding		3267		chr7	TogoVar
HSPB8_chr12_119173931_119199746	119186694	TTGGAAGA others(14): Show TTGGAAGATTTGGTACAACACA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00733.hp1 others(56): Show HG00140.hp2 HG00609.hp1 HG00733.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02738.hp1 HG02818.hp2 HG02970.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp1 NA18940.hp1 NA18946.hp1 NA18952.hp2 NA18960.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18982.hp2 NA18984.hp2 NA18987.hp2 NA18994.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19075.hp2 NA19086.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0145 a0001c0001t0002g0128 a0001c0001t0003g0010 others(31): Show a0001c0001t0001g0145 a0001c0001t0002g0128 a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0044 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0018g0044	59	418	0.1412	-21	c.368 others(36): Show c.368-309_368-289delTGGAAGATTTGGTACAACACA	HSPB8	ENSG00000152137.8	transcript	ENST00000281938.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
HSPB8_chr12_119173931_119199746	119199618	GAAATGGA others(14): Show GAAATGGAATCACAGGGTGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	-21	c.57 others(32): Show c.5761_*5781delAAATGGAATCACAGGGTGCCA	HSPB8	ENSG00000152137.8	transcript	ENST00000281938.7	protein_coding		4873		chr12	TogoVar
HSPBP1_chr19_55257223_55285110	55282337	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03669.hp1 HG03704.hp1 others(2): Show HG03239.hp2 HG03669.hp1 HG03704.hp1 HG03927.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0018 a0002c0003t0001g0042 a0002c0003t0001g0043 others(1): Show a0002c0003t0001g0018 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044	5	314	0.0159	-21	c.-24 others(32): Show c.-2418_-2398delTTTTTTTTTTTTTTTTTTTTT	HSPBP1	ENSG00000133265.11	transcript	ENST00000433386.7	protein_coding		2228		chr19	TogoVar
HSPG2_chr1_21817244_21942310	21868660	ACAGGGGT others(14): Show ACAGGGGTCAGGGGCCAGGGGT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0053 a0053	a0053c0096 a0053c0096	a0053c0096t0002 a0053c0096t0002	a0053c0096t0002g0170 a0053c0096t0002g0170	1	310	0.0032	-21	c.422 others(40): Show c.4222-2872_4222-2852delACCCCTGGCCCCTGACCCCTG	HSPG2	ENSG00000142798.20	transcript	ENST00000374695.8	protein_coding	33/96			chr1	TogoVar
HTR1D_chr1_23186895_23222502	23199415	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	356	0.0028	-21	c.-78 others(40): Show c.-782-4435_-782-4415delAAAAAAAAAAAAAAAAAAAAA	HTR1D	ENSG00000179546.5	transcript	ENST00000374619.2	protein_coding	1/1			chr1	TogoVar
HTR7_chr10_90735823_90863039	90844726	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01168.hp2 others(7): Show HG00741.hp1 HG01109.hp1 HG01168.hp2 HG01515.hp2 HG02055.hp2 HG03139.hp2 HG03239.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0022 others(7): Show a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0033	10	404	0.0248	-21	c.539 others(40): Show c.539+12386_539+12406delTTTTTTTTTTTTTTTTTTTTT	HTR7	ENSG00000148680.16	transcript	ENST00000336152.8	protein_coding	1/3			chr10	TogoVar
HTRA1_chr10_122456553_122519907	122472369	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(37): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG01099.hp2 HG02056.hp2 HG02071.hp1 HG02602.hp1 HG03490.hp1 HG03834.hp1 HG03834.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18953.hp2 NA18955.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18989.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19010.hp2 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0336 a0001c0002t0001g0337 a0002c0003t0001g0005 others(36): Show a0001c0001t0001g0336 a0001c0002t0001g0337 a0002c0003t0001g0005 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087	40	362	0.1105	-21	c.472 others(40): Show c.472+10268_472+10288delATTATTATTATTATTATTATT	HTRA1	ENSG00000166033.13	transcript	ENST00000368984.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
HTT_chr4_3069681_3248957	3099609	GTTGTATG others(14): Show GTTGTATGGTTTGGAGGTGCTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp2 others(101): Show HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18999.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19056.hp1 NA19057.hp2 NA19064.hp2 NA19067.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA20129.hp1 NA21309.hp2	a0002 a0003 a0005 others(30): Show a0002 a0003 a0005 a0007 a0010 a0011 a0016 a0018 a0021 a0024 a0025 a0030 a0031 a0033 a0034 a0036 a0040 a0042 a0050 a0051 a0052 a0054 a0056 a0057 a0059 a0060 a0074 a0076 a0081 a0084 a0087 a0088 a0089	a0002c0001 a0002c0030 a0002c0031 others(37): Show a0002c0001 a0002c0030 a0002c0031 a0002c0073 a0003c0128 a0005c0004 a0005c0090 a0007c0007 a0007c0058 a0010c0009 a0011c0028 a0016c0017 a0018c0019 a0021c0021 a0024c0046 a0024c0047 a0025c0025 a0030c0034 a0031c0035 a0033c0097 a0034c0038 a0036c0107 a0036c0108 a0040c0045 a0042c0048 a0050c0065 a0051c0062 a0052c0061 a0054c0068 a0056c0070 a0057c0074 a0059c0075 a0060c0088 a0074c0095 a0076c0101 a0081c0109 a0084c0115 a0087c0119 a0088c0120 a0089c0125	a0002c0001t0002 a0002c0001t0013 a0002c0001t0014 others(41): Show a0002c0001t0002 a0002c0001t0013 a0002c0001t0014 a0002c0001t0024 a0002c0030t0002 a0002c0031t0002 a0002c0073t0002 a0003c0128t0026 a0005c0004t0002 a0005c0090t0002 a0007c0007t0003 a0007c0058t0033 a0010c0009t0003 a0011c0028t0001 a0016c0017t0001 a0018c0019t0001 a0021c0021t0002 a0021c0021t0012 a0024c0046t0008 a0024c0047t0008 a0025c0025t0002 a0030c0034t0002 a0031c0035t0002 a0033c0097t0001 a0034c0038t0002 a0036c0107t0018 a0036c0108t0018 a0040c0045t0002 a0042c0048t0008 a0050c0065t0003 a0051c0062t0002 a0052c0061t0035 a0054c0068t0034 a0056c0070t0001 a0057c0074t0002 a0059c0075t0014 a0060c0088t0002 a0074c0095t0002 a0076c0101t0002 a0081c0109t0002 a0084c0115t0017 a0087c0119t0022 a0088c0120t0017 a0089c0125t0002	a0002c0001t0002g0191 a0002c0001t0002g0193 a0002c0001t0002g0196 others(101): Show a0002c0001t0002g0191 a0002c0001t0002g0193 a0002c0001t0002g0196 a0002c0001t0002g0206 a0002c0001t0002g0208 a0002c0001t0002g0210 a0002c0001t0002g0211 a0002c0001t0002g0212 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0220 a0002c0001t0002g0227 a0002c0001t0002g0237 a0002c0001t0002g0241 a0002c0001t0002g0244 a0002c0001t0002g0245 a0002c0001t0002g0246 a0002c0001t0002g0247 a0002c0001t0002g0248 a0002c0001t0002g0249 a0002c0001t0002g0250 a0002c0001t0002g0251 a0002c0001t0002g0255 a0002c0001t0002g0262 a0002c0001t0002g0263 a0002c0001t0002g0279 a0002c0001t0002g0281 a0002c0001t0002g0282 a0002c0001t0002g0283 a0002c0001t0002g0284 a0002c0001t0013g0224 a0002c0001t0013g0225 a0002c0001t0014g0214 a0002c0001t0024g0238 a0002c0030t0002g0213 a0002c0030t0002g0218 a0002c0031t0002g0226 a0002c0031t0002g0253 a0002c0073t0002g0290 a0003c0128t0026g0053 a0005c0004t0002g0194 a0005c0004t0002g0195 a0005c0004t0002g0209 a0005c0004t0002g0219 a0005c0004t0002g0228 a0005c0004t0002g0229 a0005c0004t0002g0230 a0005c0004t0002g0239 a0005c0004t0002g0242 a0005c0004t0002g0254 a0005c0004t0002g0256 a0005c0004t0002g0260 a0005c0090t0002g0215 a0007c0007t0003g0023 a0007c0007t0003g0024 a0007c0007t0003g0025 a0007c0007t0003g0026 a0007c0007t0003g0027 a0007c0007t0003g0028 a0007c0058t0033g0009 a0010c0009t0003g0276 a0010c0009t0003g0277 a0010c0009t0003g0288 a0010c0009t0003g0289 a0010c0009t0003g0291 a0011c0028t0001g0236 a0011c0028t0001g0240 a0016c0017t0001g0190 a0018c0019t0001g0233 a0018c0019t0001g0234 a0018c0019t0001g0235 a0021c0021t0002g0232 a0021c0021t0012g0231 a0021c0021t0012g0265 a0024c0046t0008g0257 a0024c0047t0008g0258 a0025c0025t0002g0187 a0025c0025t0002g0188 a0030c0034t0002g0221 a0030c0034t0002g0278 a0031c0035t0002g0267 a0031c0035t0002g0269 a0033c0097t0001g0061 a0034c0038t0002g0192 a0034c0038t0002g0285 a0036c0107t0018g0065 a0036c0108t0018g0066 a0040c0045t0002g0103 a0042c0048t0008g0259 a0050c0065t0003g0286 a0051c0062t0002g0243 a0052c0061t0035g0252 a0054c0068t0034g0090 a0056c0070t0001g0280 a0057c0074t0002g0268 a0059c0075t0014g0222 a0060c0088t0002g0261 a0074c0095t0002g0106 a0076c0101t0002g0266 a0081c0109t0002g0264 a0084c0115t0017g0202 a0087c0119t0022g0207 a0088c0120t0017g0201 a0089c0125t0002g0108	104	294	0.3537	-21	c.468 others(36): Show c.468+259_468+279delTGTATGGTTTGGAGGTGCTCT	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	3/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HYCC1_chr7_22929211_23019130	22930320	TACCCTAA others(14): Show TACCCTAAAACTTAGAAGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03209.hp2 HG03453.hp2 others(1): Show HG03098.hp2 HG03209.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0021 a0001c0002t0012 a0001c0002t0021	a0001c0002t0012g0189 a0001c0002t0012g0190 a0001c0002t0021g0233 others(1): Show a0001c0002t0012g0189 a0001c0002t0012g0190 a0001c0002t0021g0233 a0001c0002t0021g0261	4	386	0.0104	-21	c.15 others(34): Show c.15248_*15268delTATACTTCTAAGTTTTAGGGT	HYCC1	ENSG00000122591.13	transcript	ENST00000432176.7	protein_coding		3890		chr7	TogoVar
HYDIN_chr16_70797084_71235722	70864330	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp2 HG02602.hp1 others(4): Show HG02300.hp1 HG02300.hp2 HG02602.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18953.hp2	a0001 a0002 a0020 others(2): Show a0001 a0002 a0020 a0021 a0027	a0001c0001 a0002c0003 a0020c0030 others(2): Show a0001c0001 a0002c0003 a0020c0030 a0021c0025 a0027c0042	a0001c0001t0001 a0002c0003t0002 a0020c0030t0001 others(2): Show a0001c0001t0001 a0002c0003t0002 a0020c0030t0001 a0021c0025t0001 a0027c0042t0003	a0001c0001t0001g0107 a0001c0001t0001g0111 a0002c0003t0002g0012 others(4): Show a0001c0001t0001g0107 a0001c0001t0001g0111 a0002c0003t0002g0012 a0002c0003t0002g0013 a0020c0030t0001g0059 a0021c0025t0001g0060 a0027c0042t0003g0138	7	174	0.0402	-21	c.114 others(42): Show c.11472-1169_11472-1149delTTTTTTTTTTTTTTTTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	67/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904478	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02809.hp2 others(2): Show HG02258.hp1 HG02559.hp1 HG02809.hp2 HG02970.hp2 HG03579.hp1	a0001 a0016 a0037 a0001 a0016 a0037	a0001c0058 a0001c0073 a0016c0023 others(1): Show a0001c0058 a0001c0073 a0016c0023 a0037c0074	a0001c0058t0009 a0001c0073t0009 a0016c0023t0009 others(1): Show a0001c0058t0009 a0001c0073t0009 a0016c0023t0009 a0037c0074t0009	a0001c0058t0009g0027 a0001c0073t0009g0123 a0016c0023t0009g0044 others(2): Show a0001c0058t0009g0027 a0001c0073t0009g0123 a0016c0023t0009g0044 a0016c0023t0009g0045 a0037c0074t0009g0067	5	174	0.0287	-21	c.851 others(38): Show c.8517-435_8517-415delAAAAAAAAAAAAAAAAAAAAA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85			chr16	TogoVar
IBA57_chr1_228160804_228187257	228181740	TCTTGTCA others(14): Show TCTTGTCATACTGCGTCCTCGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0185 a0001c0001t0061g0185	1	416	0.0024	-21	c.62 others(32): Show c.6229_*6249delTTGTCATACTGCGTCCTCGCC	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	3/3	6229	INFO_REALIGN_3_PRIME	chr1	TogoVar
ICA1L_chr2_202768176_202876766	202773206	AAAGAAAT others(14): Show AAAGAAATGAAGGTAATTTTAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0141 a0001c0001t0075g0141	1	330	0.0030	-21	c.63 others(32): Show c.6306_*6326delGTAAAATTACCTTCATTTCTT	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	13/13	6306		chr2	TogoVar
ICOSLG_chr21_44217991_44245943	44219798	AGAGGAGG others(14): Show AGAGGAGGAGGAGGAGGAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0010 a0002c0002t0010g0010	1	41	0.0244	-21	c.92 others(32): Show c.9215_*9235delCTCTTCCTCCTCCTCCTCCTC	ICOSLG	ENSG00000160223.18	transcript	ENST00000407780.8	protein_coding		3192		chr21	TogoVar
IDO2_chr8_39929651_40021392	39995230	TCTCCTTC others(14): Show TCTCCTTCTCCTTCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 NA18906.hp1 HG02896.hp2 HG02897.hp1 NA18906.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0005 a0008c0010t0005	a0008c0010t0005g0089 a0008c0010t0005g0090 a0008c0010t0005g0166 a0008c0010t0005g0089 a0008c0010t0005g0090 a0008c0010t0005g0166	3	360	0.0083	-21	c.667 others(38): Show c.667+5395_667+5415delCCTTCTCCTTCTCCTTCTCCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFFO2_chr1_18899280_18961676	18912852	ATTGGCTA others(14): Show ATTGGCTAGAACTAGAAGTAGG	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	376	0.0027	-21	c.110 others(38): Show c.1104-790_1104-770delCCTACTTCTAGTTCTAGCCAA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	5/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18956950	GGGACCCG others(14): Show GGGACCCGGACCGCAGAGCTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	376	0.0027	-21	c.-63 others(30): Show c.-639_-619delGCAGCTCTGCGGTCCGGGTCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding		275		chr1	TogoVar
IFI16_chr1_159004907_159060151	159021939	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(113): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01109.hp1 HG01192.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18981.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp2 NA19062.hp2 NA19067.hp2 NA19076.hp1 NA19077.hp1 NA19085.hp1 NA19088.hp1 NA20129.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0013	a0001c0003 a0002c0002 a0002c0024 others(13): Show a0001c0003 a0002c0002 a0002c0024 a0003c0005 a0003c0011 a0004c0004 a0004c0016 a0005c0007 a0005c0008 a0005c0019 a0006c0010 a0006c0020 a0007c0009 a0010c0025 a0011c0023 a0013c0021	a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 others(17): Show a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0024t0002 a0003c0005t0001 a0003c0005t0002 a0003c0005t0004 a0003c0011t0001 a0004c0004t0001 a0004c0016t0002 a0005c0007t0002 a0005c0008t0001 a0005c0019t0002 a0006c0010t0002 a0006c0020t0001 a0007c0009t0001 a0010c0025t0002 a0011c0023t0001 a0013c0021t0002	a0001c0003t0001g0087 a0001c0003t0002g0088 a0002c0002t0001g0008 others(83): Show a0001c0003t0001g0087 a0001c0003t0002g0088 a0002c0002t0001g0008 a0002c0002t0001g0034 a0002c0002t0001g0183 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0013 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0040 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0110 a0002c0024t0002g0111 a0003c0005t0001g0037 a0003c0005t0001g0246 a0003c0005t0002g0006 a0003c0005t0002g0014 a0003c0005t0002g0036 a0003c0005t0002g0042 a0003c0005t0002g0047 a0003c0005t0002g0050 a0003c0005t0002g0055 a0003c0005t0002g0063 a0003c0005t0002g0065 a0003c0005t0002g0075 a0003c0005t0004g0242 a0003c0011t0001g0038 a0003c0011t0001g0039 a0003c0011t0001g0213 a0003c0011t0001g0222 a0004c0004t0001g0005 a0004c0004t0001g0029 a0004c0004t0001g0179 a0004c0004t0001g0229 a0004c0004t0001g0231 a0004c0004t0001g0232 a0004c0004t0001g0233 a0004c0004t0001g0234 a0004c0004t0001g0235 a0004c0004t0001g0236 a0004c0004t0001g0239 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0016t0002g0203 a0005c0007t0002g0221 a0005c0008t0001g0028 a0005c0008t0001g0212 a0005c0008t0001g0214 a0005c0008t0001g0228 a0005c0019t0002g0218 a0006c0010t0002g0026 a0006c0010t0002g0027 a0006c0010t0002g0220 a0006c0020t0001g0226 a0007c0009t0001g0117 a0007c0009t0001g0230 a0010c0025t0002g0051 a0011c0023t0001g0225 a0013c0021t0002g0046	116	320	0.3625	-21	c.116 others(40): Show c.1161+1432_1161+1452delTTTTTTTTTTTTTTTTTTTTT	IFI16	ENSG00000163565.20	transcript	ENST00000295809.12	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
IFI44L_chr1_78615448_78651145	78638451	CATGAATT others(14): Show CATGAATTCTAGATATTTTGTT	C C	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0076 a0002c0002t0076	a0002c0002t0076g0102 a0002c0002t0076g0102	1	430	0.0023	-21	c.104 others(40): Show c.1048+1251_1048+1271delGAATTCTAGATATTTTGTTAT	IFI44L	ENSG00000137959.17	transcript	ENST00000370751.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
IFNA13_chr9_21362372_21373057	21364887	CCAGACAC others(14): Show CCAGACACTACAAGCAGAAATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp2 NA19010.hp1 others(3): Show NA18947.hp1 NA18947.hp2 NA19010.hp1 NA19012.hp1 NA19056.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	466	0.0129	-21	c.25 others(32): Show c.2530_*2550delAATTTCTGCTTGTAGTGTCTG	IFNA13	ENSG00000233816.4	transcript	ENST00000610660.2	protein_coding		2484		chr9	TogoVar
IFNGR2_chr21_33398413_33442516	33401964	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	386	0.0026	-21	c.-15 others(32): Show c.-1579_-1559delTTTTTTTTTTTTTTTTTTTTT	IFNGR2	ENSG00000159128.16	transcript	ENST00000290219.11	protein_coding		1448		chr21	TogoVar

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Search Results (Total: 6287 hits)