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
HHAT_chr1_210323902_210681290	210344267	TATGTTAT others(15): Show TATGTTATTGTTTCATTGAAACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00597.hp2 others(117): Show HG00099.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG02040.hp2 HG02071.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18989.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0004 a0003c0007 a0004c0005 a0004c0012 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0006t0002 a0001c0006t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0004t0006 a0003c0004t0017 a0003c0007t0002 a0003c0007t0004 a0004c0005t0001 a0004c0012t0002 a0006c0011t0004	a0001c0001t0001g0014 a0001c0001t0001g0082 a0001c0001t0001g0089 others(117): Show a0001c0001t0001g0014 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0116 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0003g0083 a0001c0001t0003g0091 a0001c0001t0003g0097 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0003g0138 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0159 a0001c0001t0003g0172 a0001c0001t0004g0087 a0001c0001t0004g0092 a0001c0001t0004g0115 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0163 a0001c0001t0004g0171 a0001c0001t0004g0178 a0001c0001t0005g0003 a0001c0001t0005g0005 a0001c0001t0005g0013 a0001c0001t0005g0073 a0001c0001t0005g0160 a0001c0001t0005g0179 a0001c0001t0005g0213 a0001c0001t0006g0001 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0084 a0001c0001t0006g0102 a0001c0001t0006g0108 a0001c0001t0006g0114 a0001c0001t0007g0012 a0001c0001t0007g0070 a0001c0001t0008g0004 a0001c0001t0009g0143 a0001c0001t0009g0161 a0001c0001t0010g0009 a0001c0001t0010g0067 a0001c0001t0014g0006 a0001c0001t0015g0176 a0001c0001t0018g0164 a0001c0001t0019g0214 a0001c0001t0022g0113 a0001c0002t0001g0124 a0001c0002t0001g0128 a0001c0002t0002g0229 a0001c0002t0003g0101 a0001c0002t0004g0085 a0001c0002t0004g0127 a0001c0002t0004g0140 a0001c0002t0008g0126 a0001c0002t0011g0015 a0001c0002t0011g0016 a0001c0002t0012g0068 a0001c0002t0012g0123 a0001c0006t0002g0174 a0001c0006t0004g0177 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0002g0109 a0002c0003t0004g0119 a0002c0003t0004g0122 a0003c0004t0001g0110 a0003c0004t0001g0118 a0003c0004t0003g0002 a0003c0004t0003g0135 a0003c0004t0003g0137 a0003c0004t0004g0139 a0003c0004t0006g0136 a0003c0004t0017g0134 a0003c0007t0002g0169 a0003c0007t0004g0133 a0004c0005t0001g0165 a0004c0012t0002g0166 a0006c0011t0004g0142	120	268	0.4478	-22	c.-43 others(39): Show c.-43-4652_-43-4631delATTGAAACAATGTTATTGTTTC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210394229	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG01192.hp1 others(53): Show HG00099.hp1 HG00597.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02071.hp1 HG02080.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03516.hp1 HG03540.hp1 HG03834.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18955.hp1 NA18974.hp1 NA18985.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA19043.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0006c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0002t0004 a0003c0004t0003 a0006c0011t0004 a0008c0010t0002	a0001c0001t0001g0099 a0001c0001t0001g0144 a0001c0001t0001g0145 others(53): Show a0001c0001t0001g0099 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0268 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0186 a0001c0001t0002g0219 a0001c0001t0002g0231 a0001c0001t0003g0181 a0001c0001t0003g0190 a0001c0001t0003g0198 a0001c0001t0003g0206 a0001c0001t0003g0217 a0001c0001t0003g0232 a0001c0001t0004g0182 a0001c0001t0004g0220 a0001c0001t0004g0225 a0001c0001t0005g0203 a0001c0001t0005g0218 a0001c0001t0006g0193 a0001c0001t0006g0197 a0001c0001t0007g0070 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0191 a0001c0001t0007g0201 a0001c0001t0007g0202 a0001c0001t0009g0143 a0001c0001t0009g0207 a0001c0001t0010g0009 a0001c0001t0010g0196 a0001c0001t0013g0040 a0001c0001t0016g0222 a0001c0001t0018g0164 a0001c0002t0004g0085 a0003c0004t0003g0137 a0006c0011t0004g0142 a0008c0010t0002g0131	56	268	0.2090	-22	c.274 others(39): Show c.274-6225_274-6204delTTTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210428286	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp2 others(15): Show HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00642.hp1 HG00733.hp1 HG01256.hp2 HG01258.hp1 HG01516.hp1 HG01517.hp2 HG02074.hp1 HG02647.hp2 HG03669.hp1 HG03688.hp1 HG04199.hp2 NA18906.hp2 NA18951.hp2 NA18977.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0013 a0002c0003t0020	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0107 others(15): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0107 a0001c0001t0006g0193 a0001c0001t0007g0187 a0001c0002t0001g0028 a0001c0002t0002g0053 a0002c0003t0001g0230 a0002c0003t0003g0236 a0002c0003t0003g0238 a0002c0003t0003g0239 a0002c0003t0003g0240 a0002c0003t0003g0241 a0002c0003t0003g0251 a0002c0003t0004g0242 a0002c0003t0004g0243 a0002c0003t0013g0250 a0002c0003t0020g0263	18	268	0.0672	-22	c.856 others(41): Show c.856+10000_856+10021delTATATATATATATATATATATA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210679939	TAATGCAA others(15): Show TAATGCAATGAGTTGCATTCATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	268	0.0037	-22	c.55 others(33): Show c.5561_*5582delAATGCAATGAGTTGCATTCATG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		3650		chr1	TogoVar
HHIPL1_chr14_99640129_99685569	99656867	GGAAGGAA others(15): Show GGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0034 a0002c0001t0001g0034	1	374	0.0027	-22	c.903 others(37): Show c.903-132_903-111delGAAGGAAGGAAGGAAGGAAGGA	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8			chr14	TogoVar
HHIP_chr4_144641156_144750271	144684232	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18952.hp2 HG02717.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0233 a0001c0001t0004g0073 a0001c0001t0001g0233 a0001c0001t0004g0073	2	316	0.0063	-22	c.832 others(41): Show c.832-22276_832-22255delTTTTTTTTTTTTTTTTTTTTTT	HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
HHLA2_chr3_108291548_108383285	108340910	TCCTTCCT others(15): Show TCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0260 a0002c0003t0001g0260	1	322	0.0031	-22	c.-26 others(41): Show c.-26-10877_-26-10856delCCTTCCTTCCTTCCTTCCTTCC	HHLA2	ENSG00000114455.15	transcript	ENST00000467761.6	protein_coding	2/9			chr3	TogoVar
HIF1AN_chr10_100530943_100564998	100549040	CTGGGTGT others(15): Show CTGGGTGTGTGTGTGTGTGTGCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01074.hp1 others(3): Show HG00099.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG04204.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0044 a0001c0001t0009 a0001c0001t0044	a0001c0001t0009g0002 a0001c0001t0009g0027 a0001c0001t0009g0093 others(1): Show a0001c0001t0009g0002 a0001c0001t0009g0027 a0001c0001t0009g0093 a0001c0001t0044g0088	6	320	0.0188	-22	c.90 others(31): Show c.906_*927delGGTGTGTGTGTGTGTGTGCGTG	HIF1AN	ENSG00000166135.14	transcript	ENST00000299163.7	protein_coding	8/8	906	INFO_REALIGN_3_PRIME	chr10	TogoVar
HIGD1C_chr12_50947544_50975607	50957937	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02055.hp1 HG02257.hp1 others(22): Show HG01358.hp2 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03834.hp1 HG04228.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0003 a0001c0001t0001 a0001c0001t0003 a0002c0003t0003	a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0035 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0003g0065 a0002c0003t0003g0034	25	380	0.0658	-22	c.95- others(37): Show c.95-3004_95-2983delGTGTGTGTGTGTGTGTGTGTGT	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
HIGD2A_chr5_176383751_176394761	176390307	AACCTTCC others(15): Show AACCTTCCTTCAGATGAGGCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	-22	c.81 others(31): Show c.811_*832delACCTTCCTTCAGATGAGGCCTC	HIGD2A	ENSG00000146066.3	transcript	ENST00000274787.3	protein_coding		547		chr5	TogoVar
HIKESHI_chr11_86297240_86350943	86316771	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18956.hp2 HG02896.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0066 a0001c0001t0002g0132 a0001c0001t0001g0066 a0001c0001t0002g0132	2	398	0.0050	-22	c.268 others(41): Show c.268+10308_268+10329delTTTTTTTTTTTTTTTTTTTTTT	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINT3_chr6_125951770_125985244	125962167	TATATATA others(15): Show TATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0058 a0002c0002t0002g0058	1	268	0.0037	-22	c.202 others(39): Show c.202-4700_202-4679delCACATATATATATATATATATA	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HINT3_chr6_125951770_125985244	125962191	TATATATA others(15): Show TATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19240.hp1 HG03209.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0055 a0002c0002t0002g0042 a0002c0002t0002g0055	2	268	0.0075	-22	c.202 others(39): Show c.202-4676_202-4655delCACATATATATATATATATATA	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIP1_chr7_75528298_75743941	75637988	CCCCCCAC others(15): Show CCCCCCACACACACACATACACA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	254	0.0039	-22	c.121 others(41): Show c.121-38763_121-38742delTGTGTATGTGTGTGTGTGGGGG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75637992	CCACACAC others(15): Show CCACACACACACATACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01358.hp1 HG02622.hp2 others(1): Show HG01081.hp2 HG01358.hp1 HG02622.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0020 a0001c0001 a0001c0005 a0001c0020	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0020t0013	a0001c0001t0001g0065 a0001c0001t0003g0097 a0001c0005t0001g0058 others(1): Show a0001c0001t0001g0065 a0001c0001t0003g0097 a0001c0005t0001g0058 a0001c0020t0013g0145	4	254	0.0158	-22	c.121 others(41): Show c.121-38767_121-38746delTGTGTGTGTATGTGTGTGTGTG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75663958	GTGTATAT others(15): Show GTGTATATATATATACACATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01515.hp1 HG01516.hp2 HG00323.hp2 HG01515.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0172 a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0172	3	254	0.0118	-22	c.121 others(41): Show c.121-64733_121-64712delTATATGTGTATATATATATACA	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75663962	ATATATAT others(15): Show ATATATATATACACATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp1 others(47): Show HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00642.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG02040.hp1 HG02071.hp2 HG02155.hp1 HG02572.hp1 HG02615.hp2 HG03688.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18964.hp1 NA18967.hp2 NA18975.hp2 NA18980.hp2 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19012.hp2 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0009c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0002t0002 a0001c0003t0007 a0001c0003t0031 a0001c0005t0007 a0001c0011t0021 a0009c0019t0003	a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0071 others(47): Show a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0150 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0002g0174 a0001c0001t0002g0187 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0004g0193 a0001c0001t0004g0229 a0001c0001t0005g0170 a0001c0001t0010g0072 a0001c0001t0012g0228 a0001c0001t0018g0074 a0001c0001t0020g0184 a0001c0002t0002g0131 a0001c0002t0002g0179 a0001c0003t0007g0181 a0001c0003t0031g0180 a0001c0005t0007g0175 a0001c0011t0021g0227 a0009c0019t0003g0226	50	254	0.1969	-22	c.121 others(41): Show c.121-64737_121-64716delCACATATATGTGTATATATATA	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75743365	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01496.hp2 HG02622.hp2 HG01433.hp2 HG01496.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0013 a0001c0001t0001 a0001c0020t0013	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0020t0013g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0020t0013g0145	3	254	0.0118	-22	c.-44 others(33): Show c.-4467_-4446delGAGAGAGAGAGAGAGAGAGAGA	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding		4425		chr7	TogoVar
HIPK2_chr7_139556570_139782998	139729324	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0013 a0001c0001t0029g0013	1	154	0.0065	-22	c.20- others(39): Show c.20-12331_20-12310delTCTCTCTCTCTCTCTCTCTCTC	HIPK2	ENSG00000064393.16	transcript	ENST00000406875.8	protein_coding	1/14			chr7	TogoVar
HIVEP3_chr1_41501365_41923922	41824772	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0051 a0004c0007t0006g0051	1	134	0.0075	-22	c.-80 others(43): Show c.-801+93619_-801+93640delCTCTCTCTCTATATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41889825	CTTTATAC others(15): Show CTTTATACTCATCACTCCCATCT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0107 a0001c0003t0034g0107	1	134	0.0075	-22	c.-80 others(43): Show c.-801+28566_-801+28587delAGATGGGAGTGATGAGTATAAA	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HLA-DRB5_chr6_32512353_32535287	32515379	ATATATAT others(15): Show ATATATATATTCCATATATATTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show HG02683.hp2 HG03490.hp2 HG03831.hp1 NA18954.hp1 NA18959.hp1 NA18982.hp1 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008	7	19	0.3684	-22	c.23 others(33): Show c.2338_*2359delGAATATATATGGAATATATATA	HLA-DRB5	ENSG00000198502.6	transcript	ENST00000374975.4	protein_coding		1973		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722521	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	443	0.0023	-22	c.-94 others(31): Show c.-942_-921delAAAAAAAAAAAAAAAAAAAAAA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		912		chr6	TogoVar
HLCS_chr21_36743626_36971669	36888443	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02109.hp1 others(2): Show HG00741.hp2 HG01243.hp1 HG02109.hp1 HG02572.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0030 a0001c0001t0038 others(2): Show a0001c0001t0004 a0001c0001t0030 a0001c0001t0038 a0001c0001t0075 a0002c0002t0043	a0001c0001t0004g0015 a0001c0001t0030g0048 a0001c0001t0038g0102 others(2): Show a0001c0001t0004g0015 a0001c0001t0030g0048 a0001c0001t0038g0102 a0001c0001t0075g0049 a0002c0002t0043g0152	5	258	0.0194	-22	c.189 others(41): Show c.1892+8395_1892+8416delATATATATATATATATATATTT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36888445	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02622.hp1 NA18940.hp2 others(2): Show HG02080.hp1 HG02622.hp1 NA18940.hp2 NA18967.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0005 a0001c0001t0013 a0001c0001t0097 others(2): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0097 a0001c0001t0098 a0001c0018t0004	a0001c0001t0005g0094 a0001c0001t0013g0231 a0001c0001t0097g0038 others(2): Show a0001c0001t0005g0094 a0001c0001t0013g0231 a0001c0001t0097g0038 a0001c0001t0098g0035 a0001c0018t0004g0060	5	258	0.0194	-22	c.189 others(41): Show c.1892+8393_1892+8414delATATATATATATATATATATAT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36888476	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0253 a0001c0001t0106g0253	1	258	0.0039	-22	c.189 others(41): Show c.1892+8362_1892+8383delAATATATATATATATATATATA	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLF_chr17_55259960_55330187	55307963	GCAGAGGA others(15): Show GCAGAGGAAGAATGCTTTAGGTA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0163 a0001c0001t0021g0163	1	408	0.0025	-22	c.452 others(39): Show c.452-7263_452-7242delCAGAGGAAGAATGCTTTAGGTA	HLF	ENSG00000108924.14	transcript	ENST00000226067.10	protein_coding	2/3			chr17	TogoVar
HLTF_chr3_149025127_149091533	149079373	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02280.hp1 HG02970.hp1 HG01167.hp1 HG02280.hp1 HG02970.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0013 a0001c0002 a0007c0013	a0001c0002t0004 a0007c0013t0002 a0001c0002t0004 a0007c0013t0002	a0001c0002t0004g0256 a0007c0013t0002g0035 a0007c0013t0002g0036 a0001c0002t0004g0256 a0007c0013t0002g0035 a0007c0013t0002g0036	3	404	0.0074	-22	c.229 others(39): Show c.229-3348_229-3327delTTTTTTTTTTTTTTTTTTTTTT	HLTF	ENSG00000071794.16	transcript	ENST00000310053.10	protein_coding	2/24			chr3	TogoVar
HLX_chr1_220874443_220890059	220881763	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp2 others(11): Show HG00423.hp2 HG00544.hp1 HG00597.hp2 HG02004.hp2 HG02293.hp2 HG03834.hp2 NA18951.hp1 NA18962.hp1 NA18966.hp1 NA18977.hp2 NA19012.hp2 NA19062.hp1 NA19087.hp1 NA19090.hp2	a0005 a0007 a0005 a0007	a0005c0005 a0007c0008 a0005c0005 a0007c0008	a0005c0005t0006 a0007c0008t0006 a0005c0005t0006 a0007c0008t0006	a0005c0005t0006g0006 a0007c0008t0006g0006 a0005c0005t0006g0006 a0007c0008t0006g0006	14	438	0.0320	-22	c.773 others(37): Show c.773-372_773-351delACACACACACACACACACACAC	HLX	ENSG00000136630.13	transcript	ENST00000366903.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HM13_chr20_31509442_31574543	31514381	CGCGCGTG others(15): Show CGCGCGTGCGTGCAAGCGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 NA20905.hp1 HG03491.hp2 HG03492.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0066 a0001c0001t0005g0008 a0001c0001t0002g0066 a0001c0001t0005g0008	3	202	0.0149	-22	c.-17 others(31): Show c.-170_-149delGCGCGTGCGTGCAAGCGTGTGT	HM13	ENSG00000101294.19	transcript	ENST00000398174.9	protein_coding		60		chr20	TogoVar
HMCN2_chr9_130260760_130439123	130425469	CTCCCAAG others(15): Show CTCCCAAGGCTCACCCCATCTCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19030.hp1 HG02486.hp2 NA19030.hp1	a0098 a0146 a0098 a0146	a0098c0093 a0146c0160 a0098c0093 a0146c0160	a0098c0093t0001 a0146c0160t0002 a0098c0093t0001 a0146c0160t0002	a0098c0093t0001g0041 a0146c0160t0002g0246 a0098c0093t0001g0041 a0146c0160t0002g0246	2	258	0.0078	-22	c.136 others(41): Show c.13642-175_13642-154delCTTCCCAAGGCTCACCCCATCT	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	89/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMG20B_chr19_3567944_3584083	3573178	CCCCAGCG others(15): Show CCCCAGCGCTCCGGGCCCGGCAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp2 HG03471.hp1 HG01109.hp1 HG02922.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	3	406	0.0074	-22	c.-18 others(36): Show c.-18-110_-18-89delAGCGCTCCGGGCCCGGCATCCC	HMG20B	ENSG00000064961.19	transcript	ENST00000333651.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
HMGA2_chr12_65819483_65971291	65824713	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02896.hp1 HG03098.hp1 HG03139.hp2 others(2): Show HG02896.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 others(2): Show a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055	a0001c0001t0051g0176 a0001c0001t0052g0178 a0001c0001t0053g0010 others(2): Show a0001c0001t0051g0176 a0001c0001t0052g0178 a0001c0001t0053g0010 a0001c0001t0054g0177 a0001c0001t0055g0221	5	236	0.0212	-22	c.-52 others(31): Show c.-523_-502delTCTCTCTCTCTCTCTCTCTCTC	HMGA2	ENSG00000149948.14	transcript	ENST00000403681.7	protein_coding	1/5	502	INFO_REALIGN_3_PRIME	chr12	TogoVar
HMGB1_chr13_30451704_30470936	30465391	GCCGCCGC others(15): Show GCCGCCGCCGAGCCGCGCCGGCC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0064 a0001c0001t0022g0064	1	384	0.0026	-22	c.-15 others(37): Show c.-15+383_-15+404delGGCCGGCGCGGCTCGGCGGCGG	HMGB1	ENSG00000189403.15	transcript	ENST00000341423.10	protein_coding	1/4			chr13	TogoVar
HMGN5_chrX_81108699_81206913	81153583	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03669.hp2 NA19043.hp1 HG03579.hp1 HG03669.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0173 a0002c0002t0001g0001 a0002c0002t0001g0002 a0001c0001t0001g0173 a0002c0002t0001g0001 a0002c0002t0001g0002	3	225	0.0133	-22	c.-12 others(43): Show c.-123-31933_-123-31912delTATATATATATATATATATATA	HMGN5	ENSG00000198157.11	transcript	ENST00000358130.7	protein_coding	1/6			chrX	TogoVar
HMOX1_chr22_35376096_35399207	35386380	TACAGGGG others(15): Show TACAGGGGTTTGAGCCACCACAC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	384	0.0026	-22	c.145 others(37): Show c.145-304_145-283delACAGGGGTTTGAGCCACCACAC	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	2/4			chr22	TogoVar
HMOX2_chr16_4471398_4515347	4483160	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00609.hp1 others(22): Show HG00423.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG01099.hp2 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG02602.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp1 HG03486.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18969.hp2 NA18977.hp2 NA19011.hp2 NA19089.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0144 a0001c0001t0001g0280 a0001c0001t0001g0285 others(18): Show a0001c0001t0001g0144 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0006t0001g0142	25	313	0.0799	-22	c.-42 others(39): Show c.-42+6716_-42+6737delGTGTGTGTGTGTGTGTGTGTGT	HMOX2	ENSG00000103415.12	transcript	ENST00000570646.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
HNRNPH3_chr10_68327064_68348193	68330709	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02630.hp2 HG02723.hp1 others(7): Show HG01081.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG03041.hp1 HG03139.hp2 NA19030.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0063 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0063 a0001c0001t0002g0089 a0001c0001t0007g0011	10	404	0.0248	-22	c.-15 others(33): Show c.-1530_-1509delGTGTGTGTGTGTGTGTGTGTGT	HNRNPH3	ENSG00000096746.18	transcript	ENST00000265866.12	protein_coding		1354		chr10	TogoVar
HOMER1_chr5_79367636_79519134	79379093	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0172 a0001c0001t0005g0172	1	290	0.0035	-22	c.877 others(39): Show c.877-2918_877-2897delTTATATATATATATATATATAT	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	8/8			chr5	TogoVar
HOMER1_chr5_79367636_79519134	79427696	TTTCCTTC others(15): Show TTTCCTTCCTTCCTTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	290	0.0035	-22	c.527 others(41): Show c.527+11292_527+11313delGGGAAGGAAAGGAAGGAAGGAA	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	5/8			chr5	TogoVar
HOOK1_chr1_59809949_59881322	59855943	TATATATA others(15): Show TATATATATATATATATAAATTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00642.hp2 others(23): Show HG00280.hp1 HG00323.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01099.hp1 HG01167.hp1 HG01358.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG02148.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02683.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18984.hp1 NA18988.hp2 NA19002.hp2 NA19009.hp1 NA19065.hp1 NA19080.hp2 NA19083.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0003c0009 others(1): Show a0001c0001 a0001c0002 a0003c0009 a0006c0008	a0001c0001t0003 a0001c0001t0029 a0001c0002t0004 others(4): Show a0001c0001t0003 a0001c0001t0029 a0001c0002t0004 a0001c0002t0010 a0001c0002t0047 a0003c0009t0004 a0006c0008t0063	a0001c0001t0003g0112 a0001c0001t0029g0187 a0001c0001t0029g0188 others(20): Show a0001c0001t0003g0112 a0001c0001t0029g0187 a0001c0001t0029g0188 a0001c0002t0004g0003 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0222 a0001c0002t0004g0224 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0230 a0001c0002t0004g0234 a0001c0002t0010g0231 a0001c0002t0010g0232 a0001c0002t0010g0233 a0001c0002t0010g0235 a0001c0002t0010g0236 a0001c0002t0010g0237 a0001c0002t0047g0010 a0003c0009t0004g0229 a0006c0008t0063g0238	26	252	0.1032	-22	c.124 others(41): Show c.1243-2484_1243-2463delATATATATATATATATAAATTA	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	12/21			chr1	TogoVar
HORMAD2_chr22_30075464_30182075	30129235	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00639.hp1 others(42): Show HG00323.hp2 HG00438.hp1 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG02148.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp2 HG02738.hp1 HG02886.hp2 HG03239.hp1 HG03490.hp2 HG03654.hp1 NA18943.hp2 NA18952.hp1 NA18956.hp2 NA18962.hp2 NA18967.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA19059.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0117 a0001c0001t0001g0118 others(42): Show a0001c0001t0001g0007 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0003c0004t0001g0272	45	350	0.1286	-22	c.819 others(39): Show c.819+7023_819+7044delAAAAAAAAAAAAAAAAAAAAGA	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXC8_chr12_54003985_54017769	54008826	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	-22	c.-45 others(31): Show c.-458_-437delTCTCTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		158		chr12	TogoVar
HP1BP3_chr1_20735266_20792307	20750322	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0047 a0001c0001t0030g0047	1	378	0.0027	-22	c.982 others(37): Show c.982-462_982-441delGTGTGTGTGTGTGTGTGTGTGT	HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	9/12			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10403452	TTTTGTGT others(15): Show TTTTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02257.hp1 HG02280.hp2 others(17): Show HG01496.hp2 HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02818.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp2 HG03516.hp1 HG04204.hp2 NA18947.hp2 NA18949.hp2 NA18953.hp1 NA18975.hp1 NA19077.hp1 NA19083.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0021	a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0068 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0193 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0242 a0001c0001t0001g0266 a0001c0001t0001g0297 a0001c0001t0003g0156 a0001c0001t0004g0032 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0021g0147	20	314	0.0637	-22	c.-25 others(39): Show c.-25+6534_-25+6555delTTGTGTGTGTGTGTGTGTGTGT	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPS4_chr22_26445882_26488783	26483989	GCCCCGGG others(15): Show GCCCCGGGGGAGAGAGGCGGCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0104 a0003c0004t0007g0104	1	404	0.0025	-22	c.-81 others(31): Show c.-816_-795delGCGCCGCCTCTCTCCCCCGGGG	HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding		207		chr22	TogoVar
HPSE2_chr10_98452077_99240852	98852145	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	142	0.0070	-22	c.611 others(43): Show c.611-108111_611-108090delTACACACACACACACACACACA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99164227	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18906.hp1 HG02083.hp1 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0002 a0002c0002t0002 a0004c0004t0002	a0002c0002t0002g0045 a0004c0004t0002g0098 a0002c0002t0002g0045 a0004c0004t0002g0098	2	142	0.0141	-22	c.449 others(41): Show c.449-19850_449-19829delTATATATATATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99184522	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	142	0.0070	-22	c.449 others(41): Show c.449-40145_449-40124delTTTTTTTTTTTTTTTTTTTTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE_chr4_83287461_83339848	83325130	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19068.hp2 NA18979.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0051 a0001c0001t0014g0052 a0001c0001t0001g0051 a0001c0001t0014g0052	2	320	0.0063	-22	c.228 others(39): Show c.228-2788_228-2767delACACACACACACACACACACAC	HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding	1/11			chr4	TogoVar

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