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
ACSS3_chr12_81073079_81266210	81098147	AGAGAGT AGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03704.hp1 HG03710.hp2 others(15): Show HG02055.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp2 HG04204.hp2 NA18953.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp2 NA18994.hp1 NA19003.hp1 NA19063.hp1 NA19077.hp2 NA19089.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 a0001c0002t0002	a0001c0001t0001g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 others(15): Show a0001c0001t0001g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0030g0228 a0001c0002t0002g0213	18	290	0.0621	-6	c.312 others(25): Show c.312-11411_312-11406delAGAGTG	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81107511	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01261.hp2 HG02135.hp2 others(9): Show HG00438.hp1 HG01261.hp2 HG02135.hp2 HG02145.hp1 HG02572.hp1 HG03041.hp1 HG04184.hp2 NA18970.hp1 NA18973.hp1 NA18986.hp1 NA18989.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 a0001c0002t0009 a0001c0002t0024 a0001c0008t0002	a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0129 others(9): Show a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0177 a0001c0001t0013g0173 a0001c0002t0002g0138 a0001c0002t0002g0168 a0001c0002t0002g0176 a0001c0002t0009g0174 a0001c0002t0024g0175 a0001c0008t0002g0133	12	290	0.0414	-6	c.312 others(23): Show c.312-2005_312-2000delTATATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81121915	ATATTAT ATATTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01069.hp1 others(12): Show HG00099.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01346.hp1 HG01928.hp1 HG02155.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG03490.hp1 HG03492.hp2 HG04204.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0022 a0001c0001t0031 others(4): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0031 a0001c0002t0002 a0001c0005t0007 a0001c0006t0003 a0001c0006t0011	a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0247 others(12): Show a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0286 a0001c0001t0022g0242 a0001c0001t0031g0248 a0001c0002t0002g0001 a0001c0002t0002g0244 a0001c0005t0007g0289 a0001c0006t0003g0246 a0001c0006t0011g0234 a0001c0006t0011g0254	15	290	0.0517	-6	c.456 others(25): Show c.456+12240_456+12245delATTATT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81137321	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp1 HG01070.hp2 others(14): Show HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01928.hp2 HG01952.hp2 HG02155.hp2 NA18939.hp1 NA18954.hp1 NA18954.hp2 NA18979.hp2 NA18989.hp1 NA18994.hp2 NA19009.hp2 NA19066.hp2 NA19083.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0027 a0001c0002t0002	a0001c0001t0001g0060 a0001c0001t0001g0101 a0001c0001t0001g0111 others(14): Show a0001c0001t0001g0060 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0004g0058 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0095 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0142 a0001c0001t0006g0231 a0001c0001t0027g0084 a0001c0002t0002g0100	17	290	0.0586	-6	c.646 others(23): Show c.646-1772_646-1767delACACAC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81224573	CATGTGT CATGTGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG02647.hp1 HG01109.hp2 HG02630.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0002t0002 a0001c0002t0032 a0001c0001t0022 a0001c0002t0002 a0001c0002t0032	a0001c0001t0022g0242 a0001c0002t0002g0244 a0001c0002t0032g0109 a0001c0001t0022g0242 a0001c0002t0002g0244 a0001c0002t0032g0109	3	290	0.0103	-6	c.151 others(25): Show c.1514+4498_1514+4503delATGTGT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	11/15			chr12	TogoVar
ACTA1_chr1_229426245_229439094	229430777	AAAAAAC AAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03579.hp1 NA19240.hp1 HG03041.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	450	0.0067	-6	c.71 others(15): Show c.716_*721delGTTTTT	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		467		chr1	TogoVar
ACTA1_chr1_229426245_229439094	229435461	CCTCTCT CCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00735.hp2 others(46): Show HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02080.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18973.hp1 NA18983.hp2 NA18986.hp2 NA19009.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0002g0001 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0002g0001 a0001c0006t0001g0030	49	450	0.1089	-6	c.-14 others(17): Show c.-1476_-1471delAGAGAG	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1368		chr1	TogoVar
ACTA2_chr10_88930074_88957773	88937203	TTCAGTC TTCAGTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02027.hp1 HG02572.hp2 others(4): Show HG01109.hp2 HG02027.hp1 HG02572.hp2 HG02698.hp1 NA18963.hp1 NA18990.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0089 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0089 a0001c0001t0001g0099	7	402	0.0174	-6	c.990 others(21): Show c.990+852_990+857delGACTGA	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding	8/8			chr10	TogoVar
ACTA2_chr10_88930074_88957773	88937214	ACACTCT ACACTCT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02027.hp1 HG02572.hp2 others(4): Show HG01109.hp2 HG02027.hp1 HG02572.hp2 HG02698.hp1 NA18963.hp1 NA18990.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0089 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0089 a0001c0001t0001g0099	7	402	0.0174	-6	c.990 others(21): Show c.990+841_990+846delAGAGTG	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding	8/8			chr10	TogoVar
ACTB_chr7_5522148_5535601	5535096	TAAAAGA TAAAAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02965.hp2 HG02976.hp2 HG02486.hp2 HG02965.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	3	370	0.0081	-6	c.-45 others(17): Show c.-4585_-4580delTCTTTT	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding		4496		chr7	TogoVar
ACTC1_chr15_34785230_34800549	34791307	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02630.hp2 others(3): Show HG02451.hp2 HG02630.hp1 HG02630.hp2 HG03130.hp2 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0003g0082 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0002t0002g0061	6	496	0.0121	-6	c.809 others(19): Show c.809-18_809-13delTGTGTG	ACTC1	ENSG00000159251.9	transcript	ENST00000290378.6	protein_coding	5/6			chr15	TogoVar
ACTG1_chr17_81504971_81517799	81505794	ATTTTTT ATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(179): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19059.hp1 NA19059.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(4): Show a0001c0001 a0001c0005 a0001c0008 a0001c0009 a0001c0013 a0001c0017 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0005t0005 a0001c0008t0001 a0001c0009t0013 a0001c0013t0019 a0001c0017t0001 a0001c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0008 a0001c0001t0007g0015 a0001c0001t0008g0017 a0001c0001t0011g0024 a0001c0001t0012g0022 a0001c0001t0014g0026 a0001c0001t0015g0036 a0001c0001t0017g0033 a0001c0001t0018g0037 a0001c0001t0020g0038 a0001c0001t0021g0027 a0001c0001t0023g0039 a0001c0001t0024g0040 a0001c0001t0026g0059 a0001c0005t0005g0009 a0001c0008t0001g0016 a0001c0009t0013g0025 a0001c0013t0019g0041 a0001c0017t0001g0045 a0001c0019t0001g0046	182	370	0.4919	-6	c.48 others(17): Show c.4890_*4895delAAAAAA	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding		4176		chr17	TogoVar
ACTG2_chr2_73888008_73924865	73901532	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02896.hp1 NA18977.hp1 others(4): Show HG02280.hp2 HG02896.hp1 NA18977.hp1 NA19007.hp2 NA19055.hp1 NA19063.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004	a0001c0001t0002g0222 a0001c0001t0004g0023 a0001c0002t0002g0274 others(4): Show a0001c0001t0002g0222 a0001c0001t0004g0023 a0001c0002t0002g0274 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0246 a0001c0002t0004g0384	7	416	0.0168	-6	c.126 others(21): Show c.126+139_126+144delGTGTGT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904775	GTGTATA GTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03041.hp2 NA19011.hp1 HG01243.hp2 HG03041.hp2 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0004g0286 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0004g0286	3	416	0.0072	-6	c.255 others(23): Show c.255+2289_255+2294delGTATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73920533	TTCCTCC TTCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01261.hp1 HG01891.hp1 others(20): Show HG00735.hp1 HG01261.hp1 HG01891.hp1 HG01891.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006	a0001c0001t0006g0249 a0001c0001t0008g0038 a0001c0001t0008g0066 others(18): Show a0001c0001t0006g0249 a0001c0001t0008g0038 a0001c0001t0008g0066 a0001c0002t0001g0181 a0001c0002t0001g0263 a0001c0002t0001g0331 a0001c0002t0004g0006 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0052 a0001c0002t0004g0078 a0001c0002t0004g0086 a0001c0002t0004g0351 a0001c0002t0004g0370 a0001c0002t0004g0372 a0001c0002t0004g0384 a0001c0002t0006g0004 a0001c0002t0006g0051	23	416	0.0553	-6	c.95 others(15): Show c.959_*964delTCCTCC	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		669		chr2	TogoVar
ACTL6B_chr7_100638097_100661448	100652999	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01123.hp1 HG01243.hp1 others(13): Show HG00408.hp1 HG01123.hp1 HG01243.hp1 HG01934.hp2 HG02027.hp1 HG02965.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03710.hp1 HG03710.hp2 NA18949.hp2 NA18974.hp1 NA19005.hp1 NA19059.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0047 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0109	16	360	0.0444	-6	c.369 others(23): Show c.369+2014_369+2019delTTTTTT	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13			chr7	TogoVar
ACTL6B_chr7_100638097_100661448	100654432	CATAATA CATAATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(138): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG01081.hp1 HG01099.hp1 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp2 NA19065.hp2 NA19077.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(93): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0002g0123 a0001c0001t0004g0046 a0001c0001t0006g0255 a0001c0005t0001g0166	141	360	0.3917	-6	c.369 others(21): Show c.369+581_369+586delTATTAT	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13			chr7	TogoVar
ACTL7A_chr9_108857266_108868756	108858829	CACACAT CACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02647.hp2 NA18970.hp1 others(2): Show HG00423.hp2 HG02647.hp2 NA18970.hp1 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0000 a0001c0010t0001g0000 a0001c0001t0001g0000 a0001c0010t0001g0000	5	482	0.0104	-6	c.-34 others(17): Show c.-3493_-3488delACACAT	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding		3436		chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108858829	CACACAT CACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02647.hp2 NA18970.hp2 others(2): Show HG00423.hp2 HG02647.hp2 NA18970.hp2 NA19077.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000	5	470	0.0106	-6	c.-29 others(17): Show c.-2905_-2900delATGTGT	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding		2844		chr9	TogoVar
ACTL8_chr1_17750333_17832063	17776969	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG02257.hp2 others(10): Show HG01099.hp1 HG01167.hp2 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0010 a0001c0001t0001g0096 a0001c0001t0001g0324 others(10): Show a0001c0001t0001g0010 a0001c0001t0001g0096 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0001g0349 a0001c0001t0001g0359 a0001c0001t0008g0331 a0001c0005t0001g0104 a0001c0005t0001g0332 a0001c0005t0001g0348 a0001c0005t0001g0350 a0002c0002t0001g0174 a0002c0002t0003g0323	13	366	0.0355	-6	c.-25 others(25): Show c.-25+21496_-25+21501delTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17802424	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG02257.hp1 others(11): Show HG00642.hp2 HG01109.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0358 others(11): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0358 a0001c0003t0001g0012 a0001c0003t0001g0188 a0001c0003t0001g0346 a0001c0003t0001g0347 a0001c0003t0001g0353 a0001c0003t0003g0354 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0008t0001g0039 a0001c0008t0001g0109 a0001c0008t0001g0352	14	366	0.0383	-6	c.-24 others(25): Show c.-24-20538_-24-20533delGTGTGT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL9_chr19_8692400_8703795	8694853	AAGAGAG AAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01243.hp1 HG02615.hp1 others(5): Show HG00597.hp1 HG01243.hp1 HG02615.hp1 HG02965.hp2 HG03195.hp1 HG03453.hp2 NA18999.hp1 NA19090.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0000 a0007c0008t0001g0000 a0001c0001t0001g0000 a0007c0008t0001g0000	8	356	0.0225	-6	c.25 others(17): Show c.2592_*2597delCTCTCT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2546		chr19	TogoVar
ACTN2_chr1_236681499_236769631	236689300	GATATAT GATATAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00621.hp2 others(24): Show HG00280.hp1 HG00544.hp2 HG00621.hp2 HG01106.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 NA18612.hp1 NA19043.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0002 a0001c0003t0003 a0001c0004t0005 a0001c0010t0002	a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0190 others(24): Show a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0004g0059 a0001c0001t0004g0200 a0001c0001t0005g0181 a0001c0001t0009g0187 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0196 a0001c0002t0002g0247 a0001c0003t0003g0058 a0001c0004t0005g0057 a0001c0004t0005g0060 a0001c0004t0005g0061 a0001c0004t0005g0197 a0001c0004t0005g0198 a0001c0004t0005g0199 a0001c0010t0002g0183	27	344	0.0785	-6	c.126 others(23): Show c.126+2535_126+2540delTATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236693177	GCACACA GCACACA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01081.hp2 others(16): Show HG00609.hp2 HG00738.hp2 HG01081.hp2 HG01243.hp1 HG01258.hp1 HG01496.hp2 HG02559.hp1 HG02615.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03710.hp2 HG06807.hp2 NA18906.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0016 a0003c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0002 a0001c0003t0005 a0001c0003t0022 a0001c0007t0004 a0001c0016t0003 a0003c0012t0008	a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0003g0104 others(16): Show a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0111 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0102 a0001c0001t0009g0073 a0001c0001t0011g0067 a0001c0001t0012g0109 a0001c0002t0002g0072 a0001c0003t0005g0068 a0001c0003t0022g0093 a0001c0007t0004g0070 a0001c0007t0004g0112 a0001c0016t0003g0108 a0003c0012t0008g0092 a0003c0012t0008g0098	19	344	0.0552	-6	c.126 others(23): Show c.126+6411_126+6416delCACACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236705301	GAAAGAC GAAAGAC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 NA19030.hp1 HG02647.hp2 HG03139.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0009g0118 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0009g0118	3	344	0.0087	-6	c.127 others(25): Show c.127-12556_127-12551delAAAGAC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709220	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01071.hp2 others(19): Show HG00544.hp1 HG00609.hp2 HG01071.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG02004.hp1 HG02145.hp1 HG02148.hp2 HG02273.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG03139.hp1 HG03471.hp1 NA18906.hp1 NA18945.hp2 NA18953.hp2 NA18990.hp2 NA19062.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0002t0007 a0001c0007t0004 a0002c0008t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0040 a0001c0001t0003g0111 a0001c0001t0003g0336 a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0005g0080 a0001c0001t0009g0073 a0001c0001t0011g0067 a0001c0002t0007g0034 a0001c0007t0004g0070 a0001c0007t0004g0083 a0001c0007t0004g0085 a0002c0008t0004g0025	22	344	0.0640	-6	c.127 others(23): Show c.127-8607_127-8602delTATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236761432	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(110): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02572.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG03017.hp1 HG03098.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18964.hp1 NA18973.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0018 others(7): Show a0001c0001 a0001c0003 a0001c0018 a0001c0021 a0001c0025 a0001c0027 a0001c0031 a0006c0022 a0007c0023 a0008c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0001t0025 a0001c0003t0001 a0001c0003t0006 a0001c0018t0006 a0001c0021t0001 a0001c0025t0006 a0001c0027t0001 a0001c0031t0005 a0006c0022t0001 a0007c0023t0001 a0008c0017t0024	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0005g0055 a0001c0001t0005g0080 a0001c0001t0006g0135 a0001c0001t0010g0043 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0046 a0001c0001t0019g0250 a0001c0001t0019g0252 a0001c0001t0025g0010 a0001c0003t0001g0129 a0001c0003t0001g0133 a0001c0003t0006g0124 a0001c0003t0006g0126 a0001c0003t0006g0130 a0001c0003t0006g0131 a0001c0003t0006g0132 a0001c0003t0006g0134 a0001c0003t0006g0136 a0001c0018t0006g0123 a0001c0021t0001g0254 a0001c0025t0006g0121 a0001c0027t0001g0311 a0001c0031t0005g0053 a0006c0022t0001g0203 a0007c0023t0001g0332 a0008c0017t0024g0099	113	344	0.3285	-6	c.252 others(23): Show c.2526+280_2526+285delGTGTGT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN3_chr11_66541903_66568334	66552880	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00621.hp2 others(36): Show HG00438.hp2 HG00597.hp2 HG00621.hp2 HG01884.hp2 HG02055.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp2 NA18522.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18967.hp2 NA18973.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp2 NA18995.hp2 NA19003.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1	a0001 a0004 a0010 others(2): Show a0001 a0004 a0010 a0012 a0018	a0001c0001 a0004c0005 a0010c0030 others(2): Show a0001c0001 a0004c0005 a0010c0030 a0012c0017 a0018c0021	a0001c0001t0001 a0004c0005t0001 a0010c0030t0001 others(2): Show a0001c0001t0001 a0004c0005t0001 a0010c0030t0001 a0012c0017t0001 a0018c0021t0001	a0001c0001t0001g0005 a0001c0001t0001g0044 a0001c0001t0001g0066 others(20): Show a0001c0001t0001g0005 a0001c0001t0001g0044 a0001c0001t0001g0066 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0004c0005t0001g0012 a0004c0005t0001g0077 a0004c0005t0001g0087 a0010c0030t0001g0173 a0012c0017t0001g0005 a0018c0021t0001g0129	39	400	0.0975	-6	c.383 others(23): Show c.383-1138_383-1133delCACACA	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTN4_chr19_38642649_38736589	38673511	ATATATT ATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(76): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02145.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp2 HG02809.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA18975.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19070.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0019 a0001c0002 a0004c0019	a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 others(7): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0031 a0001c0002t0034 a0001c0002t0035 a0001c0002t0041 a0001c0002t0042 a0001c0002t0050 a0004c0019t0052	a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 others(76): Show a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0197 a0001c0002t0001g0218 a0001c0002t0001g0289 a0001c0002t0005g0054 a0001c0002t0007g0023 a0001c0002t0007g0214 a0001c0002t0007g0215 a0001c0002t0007g0216 a0001c0002t0007g0217 a0001c0002t0007g0219 a0001c0002t0007g0220 a0001c0002t0031g0046 a0001c0002t0034g0045 a0001c0002t0035g0050 a0001c0002t0041g0007 a0001c0002t0042g0290 a0001c0002t0050g0069 a0004c0019t0052g0031	79	314	0.2516	-6	c.162 others(25): Show c.162+25610_162+25615delTTATAT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38697106	AAGCCAG AAGCCAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00738.hp1 others(22): Show HG00280.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01123.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp2 HG02135.hp2 HG02293.hp1 HG03017.hp1 HG03041.hp1 HG03491.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18939.hp2 NA18966.hp2 NA18981.hp1 NA18981.hp2 NA19010.hp1 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0004t0005 a0001c0004t0013 others(4): Show a0001c0002t0001 a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 a0001c0006t0005 a0001c0006t0046 a0001c0006t0047	a0001c0002t0001g0040 a0001c0004t0005g0095 a0001c0004t0005g0222 others(22): Show a0001c0002t0001g0040 a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 a0001c0004t0005g0225 a0001c0004t0005g0227 a0001c0004t0005g0229 a0001c0004t0005g0230 a0001c0004t0005g0231 a0001c0004t0005g0232 a0001c0004t0005g0233 a0001c0004t0005g0240 a0001c0004t0005g0242 a0001c0004t0005g0243 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0246 a0001c0004t0013g0228 a0001c0004t0013g0235 a0001c0004t0013g0236 a0001c0004t0013g0241 a0001c0004t0048g0223 a0001c0006t0005g0237 a0001c0006t0046g0238 a0001c0006t0047g0239	25	314	0.0796	-6	c.163 others(23): Show c.163-3490_163-3485delCAGAGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTR10_chr14_58195149_58240636	58228681	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp2 HG02559.hp2 others(8): Show HG01109.hp2 HG01261.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp2 HG02976.hp2 HG03195.hp2 HG03486.hp1 HG03579.hp1 HG03927.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014	a0001c0001t0003g0017 a0001c0001t0003g0147 a0001c0001t0003g0148 others(7): Show a0001c0001t0003g0017 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0154 a0001c0001t0003g0160 a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0010g0115 a0001c0001t0014g0182 a0001c0001t0014g0183	11	322	0.0342	-6	c.789 others(23): Show c.789-1685_789-1680delTTTTTT	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ACTR1A_chr10_102474229_102507712	102495755	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG00733.hp1 others(104): Show HG00280.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG04199.hp2 HG06807.hp2 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18991.hp2 NA18992.hp2 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0003c0003t0003	a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0013 others(77): Show a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0021 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0190 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0194 a0001c0001t0006g0052 a0001c0001t0008g0202 a0003c0003t0003g0232	107	388	0.2758	-6	c.49- others(21): Show c.49-5148_49-5143delAAAAAA	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	1/10			chr10	TogoVar
ACTR1B_chr2_97650939_97669044	97665692	ACTCTCT ACTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01243.hp1 others(14): Show HG00408.hp1 HG00438.hp1 HG01243.hp1 HG02683.hp1 HG03834.hp1 HG04115.hp2 NA18943.hp2 NA18962.hp2 NA18975.hp2 NA18982.hp1 NA18983.hp2 NA18995.hp2 NA19002.hp1 NA19009.hp2 NA19064.hp1 NA19068.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0050 a0001c0001t0007g0012 a0001c0001t0007g0043	17	398	0.0427	-6	c.-18 others(17): Show c.-1808_-1803delAGAGAG	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1649		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665733	CTCTCTA CTCTCTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02886.hp1 HG02922.hp2 others(7): Show HG00609.hp2 HG02886.hp1 HG02922.hp2 HG03209.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 NA18950.hp1 NA18982.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0002c0003t0003 a0001c0001t0001 a0001c0001t0007 a0002c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0007g0012 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0007g0012 a0002c0003t0003g0005	10	398	0.0251	-6	c.-18 others(17): Show c.-1849_-1844delTAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1690		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665735	CTCTATA CTCTATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01361.hp2 HG01928.hp1 others(14): Show HG00423.hp1 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG02818.hp2 HG02896.hp1 HG03491.hp2 HG04228.hp2 NA18956.hp1 NA18961.hp2 NA18967.hp1 NA18999.hp1 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0048 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0048 a0001c0001t0007g0012 a0001c0002t0004g0003 a0001c0002t0004g0029 a0001c0002t0006g0011	17	398	0.0427	-6	c.-18 others(17): Show c.-1851_-1846delTATAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1692		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665737	CTATATA CTATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG02647.hp2 HG02886.hp2 others(6): Show HG01515.hp1 HG02647.hp2 HG02886.hp2 HG03704.hp2 NA18941.hp1 NA18951.hp2 NA18973.hp1 NA19081.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0004 a0002c0003t0003 a0001c0001t0001 a0001c0002t0004 a0002c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0002t0004g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0002t0004g0003 a0002c0003t0003g0005 a0002c0003t0003g0013	9	398	0.0226	-6	c.-18 others(17): Show c.-1853_-1848delTATATA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1694		chr2	TogoVar
ACTR2_chr2_65222831_65276253	65242332	GTTATAA GTTATAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02717.hp2 others(1): Show HG02486.hp1 HG02615.hp1 HG02717.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0038 a0001c0001t0002g0245 a0001c0001t0002g0246	4	326	0.0123	-6	c.159 others(23): Show c.159+2374_159+2379delTAATTA	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR2_chr2_65222831_65276253	65249019	AAAAAAG AAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00733.hp2 others(8): Show HG00099.hp2 HG00140.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp1 HG01192.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp2 HG02015.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0218 a0001c0001t0006g0244 others(7): Show a0001c0001t0006g0035 a0001c0001t0006g0218 a0001c0001t0006g0244 a0001c0001t0006g0257 a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264	11	326	0.0337	-6	c.376 others(23): Show c.376-1996_376-1991delGAAAAA	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152789023	AAACAAC AAACAAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03490.hp1 HG03491.hp2 others(3): Show HG02630.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03927.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0302 a0001c0001t0002g0157 a0001c0001t0002g0158 others(3): Show a0001c0001t0001g0302 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0172	6	310	0.0194	-6	c.100 others(23): Show c.100+5805_100+5810delCAACAA	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150316483	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp2 HG02922.hp1 others(3): Show HG02572.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG03225.hp1 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 others(3): Show a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0122	6	294	0.0204	-6	c.-52 others(23): Show c.-52+6980_-52+6985delAAAAAA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	1/7			chr7	TogoVar
ACTR3_chr2_113885089_113967596	113897515	GTTATTT GTTATTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp1 others(49): Show HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02523.hp1 HG02735.hp1 HG03017.hp1 HG03239.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18945.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18961.hp2 NA18967.hp1 NA18973.hp1 NA18981.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19055.hp2 NA19056.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0032 a0001c0001t0033 a0001c0001t0038	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(46): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0204 a0001c0001t0001g0268 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0005g0337 a0001c0001t0007g0217 a0001c0001t0011g0025 a0001c0001t0011g0291 a0001c0001t0011g0306 a0001c0001t0011g0312 a0001c0001t0013g0220 a0001c0001t0017g0288 a0001c0001t0017g0289 a0001c0001t0017g0299 a0001c0001t0017g0311 a0001c0001t0018g0302 a0001c0001t0018g0320 a0001c0001t0021g0298 a0001c0001t0021g0321 a0001c0001t0032g0301 a0001c0001t0033g0024 a0001c0001t0038g0297	52	390	0.1333	-6	c.44+ others(21): Show c.44+7195_44+7200delATTTTT	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR6_chr12_100195815_100229424	100197317	ATGTTTG ATGTTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02280.hp1 others(14): Show HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02976.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 others(8): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149	17	242	0.0703	-6	c.-35 others(17): Show c.-3534_-3529delTGTTTG	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		3497		chr12	TogoVar
ACTR6_chr12_100195815_100229424	100198756	TACACAC TACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01928.hp1 others(12): Show HG00673.hp1 HG01074.hp1 HG01928.hp1 HG02056.hp1 HG02486.hp2 HG02717.hp1 HG02735.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp1 HG04184.hp2 HG06807.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0002t0002g0005 a0001c0002t0002g0034 a0001c0002t0002g0035	15	242	0.0620	-6	c.-20 others(17): Show c.-2095_-2090delACACAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		2058		chr12	TogoVar
ACTRT3_chr3_169761921_169774561	169770530	CATAAAT CATAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01074.hp2 others(6): Show HG00280.hp2 HG01069.hp2 HG01074.hp2 HG01993.hp2 HG02015.hp1 HG03688.hp1 NA18973.hp1 NA18977.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	9	418	0.0215	-6	c.-10 others(17): Show c.-1016_-1011delATTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		970		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169772316	CTTTTTT CTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG01891.hp2 others(13): Show HG01433.hp1 HG01884.hp2 HG01891.hp2 HG02040.hp2 HG02129.hp2 HG02132.hp2 HG02258.hp1 HG02451.hp1 HG02809.hp2 HG02886.hp2 HG03195.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0002g0006 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0002g0006 a0001c0001t0002g0030	16	418	0.0383	-6	c.-28 others(17): Show c.-2802_-2797delAAAAAA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		2756		chr3	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAAAAAA TAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00621.hp2 others(30): Show HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG01123.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01978.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02683.hp1 HG02886.hp1 HG03130.hp2 HG03209.hp2 HG03492.hp1 HG04199.hp1 HG04228.hp1 NA18943.hp1 NA18966.hp1 NA18975.hp2 NA18990.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp2 NA19062.hp2 NA19065.hp2 NA19082.hp1 NA19083.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0027	a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0029 others(27): Show a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0121 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0002g0279 a0001c0001t0004g0129 a0001c0001t0004g0163 a0001c0001t0004g0170 a0001c0001t0006g0266 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0027g0269	33	324	0.1019	-6	c.139 others(23): Show c.1393-186_1393-181delAAAAAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157588236	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02486.hp2 others(16): Show HG01891.hp1 HG02109.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03516.hp2 NA18998.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(6): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0016 a0001c0002t0024 a0002c0003t0002 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010	a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(16): Show a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0003g0021 a0001c0002t0005g0033 a0001c0002t0016g0037 a0001c0002t0016g0038 a0001c0002t0024g0108 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0029 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0008g0028 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0036 a0002c0003t0010g0031	19	216	0.0880	-6	c.74- others(19): Show c.74-825_74-820delGTGTGT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 NA20300.hp2 others(1): Show HG02895.hp1 HG02897.hp1 NA20300.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0009 a0002c0003t0002 a0002c0003t0009	a0002c0003t0002g0022 a0002c0003t0002g0034 a0002c0003t0002g0035 others(1): Show a0002c0003t0002g0022 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0009g0026	4	216	0.0185	-6	c.74- others(21): Show c.74-1437_74-1432delATATAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157629587	TACACAC TACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01106.hp1 HG01891.hp1 others(4): Show HG00609.hp1 HG01106.hp1 HG01891.hp1 HG02280.hp2 HG02647.hp1 HG02809.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0014 a0001c0002t0016 others(3): Show a0001c0002t0001 a0001c0002t0014 a0001c0002t0016 a0001c0002t0028 a0001c0002t0037 a0002c0003t0002	a0001c0002t0001g0117 a0001c0002t0014g0049 a0001c0002t0016g0037 others(4): Show a0001c0002t0001g0117 a0001c0002t0014g0049 a0001c0002t0016g0037 a0001c0002t0028g0048 a0001c0002t0037g0070 a0002c0003t0002g0023 a0002c0003t0002g0024	7	216	0.0324	-6	c.-94 others(15): Show c.-949_-944delGTGTGT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		724		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157757039	TATATAA TATATAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp2 HG02897.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0020 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0001t0001g0020 a0001c0002t0001g0149 a0001c0002t0001g0150	3	174	0.0172	-6	c.126 others(25): Show c.1264+3835_1264+3840delTTATAT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	9/10			chr2	TogoVar

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