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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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HAAO_chr2_42762089_42797583	42766818	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0072 a0003c0003t0001g0072	1	410	0.0024	11	c.61 others(20): Show c.618_*619insTTTTTTTTTTT	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		270		chr2	TogoVar
HABP2_chr10_113548053_113594602	113589518	T T	TCACTCAG others(4): Show TCACTCAGCGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0320 a0001c0003t0012g0320	1	446	0.0022	11	c.11 others(22): Show c.1149_*1150insCACTCAGCGCC	HABP2	ENSG00000148702.15	transcript	ENST00000351270.4	protein_coding	13/13	1150		chr10	TogoVar
HACD2_chr3_123486554_123590053	123542146	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0020 a0001c0002t0005g0020	1	350	0.0029	11	c.293 others(30): Show c.293-13683_293-13673dupTTTTTTTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD3_chr15_65525463_65583349	65537792	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	328	0.0031	11	c.87+ others(26): Show c.87+7081_87+7091dupAAAAAAAAAAA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACE1_chr6_104723094_104864919	104743830	A A	AAAATAAT others(4): Show AAAATAATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	346	0.0029	11	c.251 others(28): Show c.2513+329_2513+330insGTATATTATTT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	22/23			chr6	TogoVar
HACE1_chr6_104723094_104864919	104745455	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp2 others(102): Show HG00408.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02165.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18961.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp2 NA18981.hp1 NA18984.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0121 a0001c0001t0001g0122 others(101): Show a0001c0001t0001g0001 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0261 a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0003g0140 a0001c0001t0004g0032 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0132 a0001c0002t0008g0344 a0001c0003t0001g0228 a0001c0003t0001g0229	105	346	0.3035	11	c.234 others(28): Show c.2344-846_2344-845insAAAAAAAAAAA	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	20/23			chr6	TogoVar
HADHB_chr2_26239939_26295465	26266871	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG00741.hp1 others(15): Show HG00099.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01175.hp2 HG01261.hp2 HG01361.hp2 HG02145.hp1 HG02145.hp2 HG03041.hp2 HG03239.hp1 HG03831.hp1 NA18944.hp1 NA18957.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0095 a0001c0001t0001g0098 others(15): Show a0001c0001t0001g0066 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0161	18	290	0.0621	11	c.210 others(28): Show c.210-3069_210-3059dupAAAAAAAAAAA	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HADHB_chr2_26239939_26295465	26285739	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp2 HG02630.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0083 a0001c0001t0004g0236 a0001c0001t0001g0083 a0001c0001t0004g0236	2	290	0.0069	11	c.138 others(28): Show c.1389+176_1389+186dupTTTTTTTTTTT	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HADHB_chr2_26239939_26295465	26292296	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG03225.hp2 HG03486.hp2 others(1): Show HG01074.hp1 HG03225.hp2 HG03486.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0005 a0003c0005t0004 a0001c0001t0005 a0003c0005t0004	a0001c0001t0005g0240 a0003c0005t0004g0081 a0003c0005t0004g0089 others(1): Show a0001c0001t0005g0240 a0003c0005t0004g0081 a0003c0005t0004g0089 a0003c0005t0004g0245	4	290	0.0138	11	c.23 others(22): Show c.2343_*2344insAAAAAAAAAAA	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding		1832		chr2	TogoVar
HAGH_chr16_1802629_1831825	1803541	A A	ATCTTTTT others(4): Show ATCTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02074.hp1 NA18747.hp1 others(5): Show HG02056.hp2 HG02074.hp1 NA18747.hp1 NA18964.hp2 NA18990.hp1 NA19063.hp2 NA19086.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0029	a0001c0001t0001g0004 a0001c0001t0001g0233 a0001c0001t0001g0240 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0005t0001g0313 a0001c0005t0001g0316 a0002c0002t0001g0307 a0002c0002t0004g0310 a0002c0002t0029g0309	8	436	0.0184	11	c.57 others(22): Show c.5741_*5742insAAAAAAAAAGA	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4087		chr16	TogoVar
HAGH_chr16_1802629_1831825	1815116	A A	AACCCCAC others(4): Show AACCCCACTAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(406): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0016 a0001c0017 a0002c0002 a0002c0010 a0003c0006 a0004c0007 a0005c0019 a0006c0018 a0007c0013 a0008c0014 a0009c0015 a0010c0012 a0011c0011 a0012c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0003t0002 a0001c0003t0003 a0001c0004t0005 a0001c0004t0007 a0001c0004t0022 a0001c0005t0001 a0001c0008t0005 a0001c0016t0001 a0001c0017t0007 a0002c0002t0001 a0002c0002t0004 a0002c0002t0028 a0002c0002t0029 a0002c0010t0001 a0003c0006t0002 a0004c0007t0012 a0004c0007t0027 a0005c0019t0003 a0006c0018t0001 a0007c0013t0005 a0008c0014t0011 a0009c0015t0005 a0010c0012t0003 a0011c0011t0001 a0012c0009t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(292): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0027 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0141 a0001c0001t0003g0161 a0001c0001t0003g0209 a0001c0001t0003g0227 a0001c0001t0004g0274 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0019 a0001c0001t0005g0048 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0005g0301 a0001c0001t0006g0016 a0001c0001t0006g0169 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0006g0267 a0001c0001t0008g0039 a0001c0001t0008g0167 a0001c0001t0008g0170 a0001c0001t0008g0173 a0001c0001t0008g0194 a0001c0001t0008g0198 a0001c0001t0008g0216 a0001c0001t0009g0168 a0001c0001t0009g0187 a0001c0001t0009g0196 a0001c0001t0009g0210 a0001c0001t0009g0213 a0001c0001t0009g0243 a0001c0001t0010g0043 a0001c0001t0010g0045 a0001c0001t0010g0160 a0001c0001t0010g0251 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0011g0103 a0001c0001t0012g0062 a0001c0001t0012g0079 a0001c0001t0012g0083 a0001c0001t0013g0028 a0001c0001t0014g0030 a0001c0001t0015g0091 a0001c0001t0015g0106 a0001c0001t0017g0034 a0001c0001t0018g0172 a0001c0001t0018g0238 a0001c0001t0019g0189 a0001c0001t0019g0234 a0001c0001t0020g0051 a0001c0001t0021g0214 a0001c0001t0024g0303 a0001c0001t0025g0149 a0001c0001t0030g0178 a0001c0001t0031g0193 a0001c0001t0032g0200 a0001c0001t0033g0061 a0001c0001t0034g0066 a0001c0001t0035g0081 a0001c0001t0036g0271 a0001c0001t0037g0247 a0001c0001t0038g0082 a0001c0001t0039g0228 a0001c0003t0002g0131 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0004t0005g0142 a0001c0004t0007g0143 a0001c0004t0007g0144 a0001c0004t0007g0145 a0001c0004t0007g0153 a0001c0004t0007g0155 a0001c0004t0007g0156 a0001c0004t0007g0157 a0001c0004t0007g0158 a0001c0004t0022g0154 a0001c0005t0001g0050 a0001c0005t0001g0313 a0001c0005t0001g0314 a0001c0005t0001g0315 a0001c0005t0001g0316 a0001c0008t0005g0052 a0001c0016t0001g0250 a0001c0017t0007g0146 a0002c0002t0001g0020 a0002c0002t0001g0307 a0002c0002t0004g0007 a0002c0002t0004g0047 a0002c0002t0004g0049 a0002c0002t0004g0305 a0002c0002t0004g0306 a0002c0002t0004g0308 a0002c0002t0004g0310 a0002c0002t0004g0312 a0002c0002t0028g0311 a0002c0002t0029g0309 a0002c0010t0001g0304 a0003c0006t0002g0037 a0003c0006t0002g0186 a0004c0007t0012g0302 a0004c0007t0027g0063 a0005c0019t0003g0317 a0006c0018t0001g0257 a0007c0013t0005g0300 a0008c0014t0011g0102 a0009c0015t0005g0298 a0010c0012t0003g0110 a0011c0011t0001g0206 a0012c0009t0004g0053	409	436	0.9381	11	c.747 others(28): Show c.747+1776_747+1777insACTAGTGGGGT	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	7/8			chr16	TogoVar
HAL_chr12_95967662_96001344	95971932	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA18984.hp2 HG03491.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0017 a0001c0002t0001 a0001c0005t0017	a0001c0002t0001g0012 a0001c0005t0017g0035 a0001c0002t0001g0012 a0001c0005t0017g0035	2	418	0.0048	11	c.22 others(22): Show c.2299_*2300insAAAAAAAAAAA	HAL	ENSG00000084110.11	transcript	ENST00000261208.8	protein_coding		729		chr12	TogoVar
HAP1_chr17_41717640_41739643	41728455	G G	GGCTTTGC others(4): Show GGCTTTGCATTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0002 a0012c0012t0002	a0012c0012t0002g0048 a0012c0012t0002g0048	1	374	0.0027	11	c.107 others(28): Show c.1070-135_1070-125dupGAATGCAAAGC	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HAP1_chr17_41717640_41739643	41729549	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01074.hp1 HG02257.hp1 others(3): Show HG00423.hp2 HG01074.hp1 HG02257.hp1 HG03927.hp1 NA19062.hp2 NA19068.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0001 a0007c0008t0001 a0002c0002t0001 a0007c0008t0001	a0002c0002t0001g0036 a0002c0002t0001g0045 a0002c0002t0001g0052 others(3): Show a0002c0002t0001g0036 a0002c0002t0001g0045 a0002c0002t0001g0052 a0002c0002t0001g0063 a0002c0002t0001g0093 a0007c0008t0001g0174	6	374	0.0160	11	c.107 others(30): Show c.1070-1229_1070-1219dupTTTTTTTTTTT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HAP1_chr17_41717640_41739643	41730031	A A	AAGAAGAG others(4): Show AAGAAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0251 a0003c0003t0001g0251	1	374	0.0027	11	c.106 others(30): Show c.1069+1461_1069+1462insCTCTCTCTTCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HAP1_chr17_41717640_41739643	41730054	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02148.hp1 HG02257.hp1 others(5): Show HG00140.hp2 HG02148.hp1 HG02257.hp1 NA18956.hp1 NA18975.hp1 NA19000.hp1 NA19068.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0045 others(5): Show a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0077 a0002c0002t0001g0084	8	374	0.0214	11	c.106 others(30): Show c.1069+1438_1069+1439insCTCTCTCTCTC	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HAP1_chr17_41717640_41739643	41730113	G G	GAAAAGAA others(4): Show GAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02451.hp1 HG02486.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0003 a0011c0011t0003	a0011c0011t0003g0133 a0011c0011t0003g0134 a0011c0011t0003g0133 a0011c0011t0003g0134	2	374	0.0054	11	c.106 others(30): Show c.1069+1379_1069+1380insTCTTTTCTTTT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HAPLN1_chr5_83632805_83725855	83645475	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01169.hp1 others(9): Show HG00642.hp1 HG00738.hp1 HG01169.hp1 HG01884.hp2 HG02723.hp2 HG02818.hp2 HG03098.hp1 HG03225.hp1 NA18522.hp2 NA19072.hp2 NA19240.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0026 a0005c0006t0049	a0001c0001t0003g0144 a0001c0001t0004g0100 a0001c0001t0006g0019 others(9): Show a0001c0001t0003g0144 a0001c0001t0004g0100 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0228 a0001c0001t0006g0283 a0001c0001t0006g0353 a0001c0001t0008g0346 a0001c0001t0018g0025 a0001c0001t0026g0010 a0001c0001t0026g0227 a0005c0006t0049g0369	12	372	0.0323	11	c.473 others(26): Show c.473-821_473-811dupAAAAAAAAAAA	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	3/4			chr5	TogoVar
HAPLN1_chr5_83632805_83725855	83661435	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0140 a0001c0001t0014g0140	1	372	0.0027	11	c.101 others(28): Show c.101-8622_101-8612dupAAAAAAAAAAA	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	2/4			chr5	TogoVar
HAPSTR1_chr16_9086644_9126635	9091256	C C	CCGGGGGG others(4): Show CCGGGGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0170 a0001c0001t0057g0170	1	398	0.0025	11	c.-78 others(20): Show c.-789_-788insCGGGGGGGGTG	HAPSTR1	ENSG00000182831.12	transcript	ENST00000327827.12	protein_coding		387		chr16	TogoVar
HAPSTR1_chr16_9086644_9126635	9091265	G G	GGGGGTGG others(4): Show GGGGGTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01109.hp2 others(10): Show HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01257.hp2 HG01891.hp1 HG02004.hp1 HG02015.hp2 HG02280.hp1 HG02683.hp2 HG02895.hp1 HG02896.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0042 a0001c0001t0078	a0001c0001t0004g0006 a0001c0001t0004g0041 a0001c0001t0004g0143 others(6): Show a0001c0001t0004g0006 a0001c0001t0004g0041 a0001c0001t0004g0143 a0001c0001t0004g0173 a0001c0001t0006g0014 a0001c0001t0006g0151 a0001c0001t0009g0162 a0001c0001t0042g0006 a0001c0001t0078g0014	13	398	0.0327	11	c.-78 others(20): Show c.-780_-779insGGGGTGGGGGA	HAPSTR1	ENSG00000182831.12	transcript	ENST00000327827.12	protein_coding		378		chr16	TogoVar
HAPSTR1_chr16_9086644_9126635	9091265	G G	GTGGGTGG others(4): Show GTGGGTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02071.hp2 NA18939.hp2 others(10): Show HG01928.hp2 HG02071.hp2 NA18939.hp2 NA18944.hp2 NA18955.hp2 NA18977.hp2 NA18990.hp1 NA18999.hp1 NA19078.hp2 NA19079.hp1 NA19083.hp2 NA19086.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0026 a0001c0001t0008 a0001c0001t0026	a0001c0001t0008g0008 a0001c0001t0008g0116 a0001c0001t0008g0117 others(5): Show a0001c0001t0008g0008 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0118 a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0026g0008 a0001c0001t0026g0122	13	398	0.0327	11	c.-78 others(20): Show c.-780_-779insTGGGTGGGGGA	HAPSTR1	ENSG00000182831.12	transcript	ENST00000327827.12	protein_coding		378		chr16	TogoVar
HAS1_chr19_51708112_51728991	51714695	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01256.hp1 HG02071.hp2 others(22): Show HG00544.hp2 HG01256.hp1 HG02071.hp2 HG02080.hp2 HG02155.hp1 HG02257.hp1 HG02300.hp1 HG02647.hp2 HG03490.hp1 NA18939.hp1 NA18940.hp2 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18979.hp1 NA18979.hp2 NA18985.hp2 NA18992.hp1 NA18995.hp2 NA19000.hp2 NA19072.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0005c0009 a0008c0011	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0006t0003 a0005c0009t0003 a0008c0011t0001	a0001c0001t0001g0041 a0001c0001t0003g0104 a0001c0001t0003g0300 others(17): Show a0001c0001t0001g0041 a0001c0001t0003g0104 a0001c0001t0003g0300 a0001c0002t0001g0046 a0001c0002t0001g0085 a0001c0002t0002g0236 a0001c0002t0003g0235 a0001c0003t0002g0286 a0001c0003t0003g0029 a0001c0003t0003g0059 a0001c0003t0003g0134 a0001c0003t0003g0229 a0001c0003t0003g0287 a0001c0003t0003g0294 a0001c0003t0003g0306 a0001c0003t0004g0285 a0001c0003t0005g0255 a0001c0006t0003g0034 a0005c0009t0003g0280 a0008c0011t0001g0187	25	464	0.0539	11	c.105 others(28): Show c.1059-594_1059-593insTTTTTTTTTTT	HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding	4/4			chr19	TogoVar
HAS1_chr19_51708112_51728991	51714698	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp2 NA18906.hp2 others(1): Show HG02572.hp2 HG03209.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0096 a0001c0001t0002g0201 a0001c0001t0002g0031 a0001c0001t0002g0096 a0001c0001t0002g0201	4	464	0.0086	11	c.105 others(28): Show c.1059-607_1059-597dupTTTTTTTTTTT	HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding	4/4			chr19	TogoVar
HAS1_chr19_51708112_51728991	51723917	A A	ACACACAC others(4): Show ACACACACACAC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	464	0.0022	11	c.9+7 others(18): Show c.9+7_9+8insGTGTGTGTGTG	HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding	1/4			chr19	TogoVar
HAS2_chr8_121607116_121646440	121609123	G G	GTTTTTTT others(4): Show GTTTTTTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0077 a0001c0002t0077	a0001c0002t0077g0172 a0001c0002t0077g0172	1	376	0.0027	11	c.49 others(22): Show c.4985_*4986insAAACAAAAAAA	HAS2	ENSG00000170961.7	transcript	ENST00000303924.5	protein_coding		2992		chr8	TogoVar
HAS2_chr8_121607116_121646440	121642852	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01168.hp1 HG01169.hp1 others(8): Show HG01074.hp2 HG01168.hp1 HG01169.hp1 HG02080.hp1 HG02257.hp2 HG02647.hp1 HG02723.hp2 NA18522.hp2 NA18957.hp2 NA18969.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 others(4): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0039 a0001c0001t0043 a0001c0001t0062 a0001c0001t0081	a0001c0001t0003g0025 a0001c0001t0009g0010 a0001c0001t0009g0023 others(7): Show a0001c0001t0003g0025 a0001c0001t0009g0010 a0001c0001t0009g0023 a0001c0001t0009g0144 a0001c0001t0015g0188 a0001c0001t0015g0189 a0001c0001t0039g0178 a0001c0001t0043g0028 a0001c0001t0062g0147 a0001c0001t0081g0195	11	376	0.0293	11	c.-20 others(22): Show c.-2001_-2000insGGGGGGGGGGG	HAS2	ENSG00000170961.7	transcript	ENST00000303924.5	protein_coding		1413		chr8	TogoVar
HAS3_chr16_69100653_69122660	69104992	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18951.hp2 NA18747.hp2 NA18951.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0026 a0001c0003t0009 a0001c0003t0026	a0001c0003t0009g0012 a0001c0003t0026g0012 a0001c0003t0009g0012 a0001c0003t0026g0012	2	410	0.0049	11	c.-79 others(20): Show c.-796_-795insTTTTTTTTTTT	HAS3	ENSG00000103044.11	transcript	ENST00000569188.6	protein_coding		660		chr16	TogoVar
HASPIN_chr17_3718903_3731699	3719234	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG02280.hp1 others(6): Show HG01167.hp2 HG01243.hp1 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG03139.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0000 a0003c0003t0003g0000	9	414	0.0217	11	c.-47 others(22): Show c.-4702_-4701insAAAAAAAAAAA	HASPIN	ENSG00000177602.5	transcript	ENST00000325418.5	protein_coding		4668		chr17	TogoVar
HAT1_chr2_171917461_171988686	171938075	T T	TCTCTCTC others(4): Show TCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp1 HG01361.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0160 a0001c0001t0001g0143 a0001c0001t0001g0160	2	326	0.0061	11	c.113 others(28): Show c.113-8633_113-8632insCTCTCTCTCTC	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	2/10			chr2	TogoVar
HAT1_chr2_171917461_171988686	171953626	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG01361.hp1 others(15): Show HG00323.hp2 HG00621.hp1 HG01361.hp1 HG01981.hp1 HG03471.hp2 HG03540.hp2 HG03710.hp2 NA18953.hp1 NA18959.hp1 NA18979.hp2 NA18990.hp2 NA19003.hp2 NA19060.hp1 NA19064.hp1 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0165 others(15): Show a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0260 a0001c0001t0001g0272 a0001c0001t0001g0281 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0321	18	326	0.0552	11	c.309 others(26): Show c.309+644_309+654dupAAAAAAAAAAA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	326	0.0031	11	c.975 others(28): Show c.975+1250_975+1251insATATATATTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03225.hp1 HG02615.hp2 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0255 a0002c0002t0001g0256	2	326	0.0061	11	c.975 others(28): Show c.975+1250_975+1251insATATATTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01433.hp2 others(2): Show HG01069.hp1 HG01071.hp1 HG01433.hp2 HG04204.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0057 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0067	5	326	0.0153	11	c.975 others(28): Show c.975+1250_975+1251insATATTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02818.hp2 HG01074.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0060 a0001c0001t0001g0018 a0001c0001t0001g0060	2	326	0.0061	11	c.975 others(28): Show c.975+1250_975+1251insATTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS2_chr15_42543838_42574994	42544836	C C	CTATATAT others(4): Show CTATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 NA19030.hp2 HG01109.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0309 a0001c0002t0004g0310 a0001c0002t0004g0309 a0001c0002t0004g0310	2	350	0.0057	11	c.-40 others(22): Show c.-4037_-4036insTATATATATAT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		4001		chr15	TogoVar
HAUS8_chr19_17044729_17080452	17055143	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0030 a0001c0003t0002g0030	1	400	0.0025	11	c.787 others(26): Show c.787+717_787+718insATATATATATA	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044602	A A	AGAAAGAA others(4): Show AGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	352	0.0028	11	c.782 others(28): Show c.782-1921_782-1920insCTCTTTCTTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044621	G G	GAAAGAAA others(4): Show GAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	352	0.0028	11	c.782 others(28): Show c.782-1950_782-1940dupTTTCTTTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044676	A A	AGAAGGAG others(4): Show AGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	352	0.0028	11	c.782 others(28): Show c.782-1995_782-1994insCTCCCTCCTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR2_chr5_157080832_157114044	157092878	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01433.hp2 others(8): Show HG01175.hp1 HG01243.hp2 HG01433.hp2 HG02109.hp2 HG02257.hp1 HG02630.hp2 NA18747.hp2 NA18967.hp2 NA19010.hp1 NA19083.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0035 a0001c0001t0001g0079 a0001c0001t0001g0161 others(8): Show a0001c0001t0001g0035 a0001c0001t0001g0079 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0241 a0001c0001t0001g0249 a0002c0002t0002g0317	11	380	0.0290	11	c.676 others(28): Show c.676+2417_676+2427dupTTTTTTTTTTT	HAVCR2	ENSG00000135077.10	transcript	ENST00000307851.9	protein_coding	5/6			chr5	TogoVar
HAX1_chr1_154267629_154280875	154267880	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	392	0.0026	11	c.-48 others(22): Show c.-4844_-4843insTTTTTTTTTTT	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		4748		chr1	TogoVar
HBEGF_chr5_140327843_140351603	140350094	C C	CATAAGTA others(4): Show CATAAGTAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	428	0.0023	11	c.-37 others(22): Show c.-3767_-3766insCCCCTACTTAT	HBEGF	ENSG00000113070.8	transcript	ENST00000230990.7	protein_coding		3492		chr5	TogoVar
HBM_chr16_160978_171764	164943	C C	CGGGGTAG others(4): Show CGGGGTAGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02135.hp1 NA18986.hp1 others(3): Show HG02027.hp2 HG02135.hp1 NA18986.hp1 NA18993.hp2 NA19066.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	370	0.0162	11	c.-10 others(22): Show c.-1055_-1054insGGGGTAGCGGG	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1034		chr16	TogoVar
HBP1_chr7_107164003_107207522	107171053	A A	AACATATA others(4): Show AACATATACATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	368	0.0027	11	c.-16 others(28): Show c.-16+1868_-16+1869insACATATACATG	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	1/10			chr7	TogoVar
HBP1_chr7_107164003_107207522	107171069	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	368	0.0027	11	c.-16 others(28): Show c.-16+1885_-16+1886insTTTTTTTTTTT	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
HBP1_chr7_107164003_107207522	107171073	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG03195.hp1 HG02559.hp2 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0246 a0001c0002t0001g0042 a0001c0002t0001g0246	3	368	0.0082	11	c.-16 others(28): Show c.-16+1889_-16+1890insATATATATATT	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
HBP1_chr7_107164003_107207522	107171073	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	368	0.0027	11	c.-16 others(28): Show c.-16+1889_-16+1890insATATATTTTTT	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
HBP1_chr7_107164003_107207522	107171073	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	368	0.0027	11	c.-16 others(28): Show c.-16+1889_-16+1890insATTTTTTTTTT	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
HBP1_chr7_107164003_107207522	107171073	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02647.hp2 HG00738.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0144 a0001c0001t0001g0104 a0001c0001t0001g0144	2	368	0.0054	11	c.-16 others(28): Show c.-16+1893_-16+1903dupTTTTTTTTTTT	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar

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