Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ARMC3_chr10_22923053_23043523	23008372	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(116): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18957.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0005 a0003c0013 others(1): Show a0001c0001 a0003c0005 a0003c0013 a0008c0010	a0001c0001t0001 a0003c0005t0004 a0003c0013t0004 others(1): Show a0001c0001t0001 a0003c0005t0004 a0003c0013t0004 a0008c0010t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(115): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0295 a0001c0001t0001g0296 a0003c0005t0004g0080 a0003c0005t0004g0279 a0003c0005t0004g0280 a0003c0005t0004g0281 a0003c0005t0004g0283 a0003c0005t0004g0284 a0003c0013t0004g0077 a0008c0010t0001g0217 a0008c0010t0001g0249	119	302	0.3940	0	c.192 others(4): Show c.1926C>T	p.Asn others(6): Show p.Asn642Asn	ARMC3	ENSG00000165309.14	transcript	ENST00000298032.10	protein_coding	15/19	1981/3718	1926/2619	642/872		chr10	TogoVar
ARMC3_chr10_22923053_23043523	23038523	G G	C C	splice_region_variant splice_region_variant	LOW	HG02145.hp1 HG02451.hp1 HG02559.hp1 others(5): Show HG02145.hp1 HG02451.hp1 HG02559.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2	a0003 a0003	a0003c0005 a0003c0013 a0003c0015 a0003c0005 a0003c0013 a0003c0015	a0003c0005t0004 a0003c0013t0004 a0003c0015t0004 a0003c0005t0004 a0003c0013t0004 a0003c0015t0004	a0003c0005t0004g0080 a0003c0005t0004g0279 a0003c0005t0004g0280 others(5): Show a0003c0005t0004g0080 a0003c0005t0004g0279 a0003c0005t0004g0280 a0003c0005t0004g0281 a0003c0005t0004g0283 a0003c0005t0004g0284 a0003c0013t0004g0077 a0003c0015t0004g0148	8	302	0.0265	0	c.10 others(5): Show c.1044G>C		ARMC3	ENSG00000165309.14	transcript	ENST00000298032.10	protein_coding	19/19					chr10	TogoVar
ARMC6_chr19_19028603_19063176	19043985	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	322	0.0031	0	c.197 others(5): Show c.197-7C>G		ARMC6	ENSG00000105676.14	transcript	ENST00000535612.6	protein_coding	3/8					chr19	TogoVar
ARMC8_chr3_138182301_138303373	138267151	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02896.hp2 HG03486.hp2 HG02559.hp1 HG02896.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022	3	246	0.0122	0	c.130 others(6): Show c.1300-4A>G		ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	14/21					chr3	TogoVar
ARMC9_chr2_231193631_231381848	231206193	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0157 a0001c0001t0033g0157	1	200	0.0050	0	c.-41 others(5): Show c.-41-5T>C		ARMC9	ENSG00000135931.19	transcript	ENST00000611582.5	protein_coding	1/24					chr2	TogoVar
ARMC9_chr2_231193631_231381848	231226766	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(31): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG01070.hp2 HG01346.hp1 HG02015.hp2 HG02080.hp1 HG02135.hp1 HG02155.hp2 HG03654.hp1 NA18943.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18993.hp1 NA18995.hp2 NA19012.hp2 NA19056.hp2 NA19065.hp2 NA19081.hp1 NA19082.hp2 NA19088.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0001c0001t0040 a0001c0001t0041 a0001c0001t0052 a0001c0001t0057 a0001c0001t0061 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0016 a0001c0002t0051 a0001c0012t0048	a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0151 others(31): Show a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0151 a0001c0001t0003g0149 a0001c0001t0004g0124 a0001c0001t0004g0135 a0001c0001t0005g0138 a0001c0001t0005g0140 a0001c0001t0005g0143 a0001c0001t0006g0148 a0001c0001t0008g0122 a0001c0001t0008g0153 a0001c0001t0009g0142 a0001c0001t0009g0144 a0001c0001t0015g0150 a0001c0001t0016g0134 a0001c0001t0016g0146 a0001c0001t0017g0121 a0001c0001t0017g0127 a0001c0001t0017g0141 a0001c0001t0018g0136 a0001c0001t0018g0137 a0001c0001t0030g0132 a0001c0001t0040g0128 a0001c0001t0041g0152 a0001c0001t0052g0131 a0001c0001t0057g0125 a0001c0001t0061g0130 a0001c0002t0002g0133 a0001c0002t0003g0155 a0001c0002t0012g0139 a0001c0002t0016g0123 a0001c0002t0051g0147 a0001c0012t0048g0156	34	200	0.1700	0	c.598 others(5): Show c.598-8C>T		ARMC9	ENSG00000135931.19	transcript	ENST00000611582.5	protein_coding	6/24					chr2	TogoVar
ARMC9_chr2_231193631_231381848	231291443	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03704.hp1 HG03704.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0026 a0005c0013t0026	a0005c0013t0026g0077 a0005c0013t0026g0077	1	200	0.0050	0	c.171 others(4): Show c.1717G>A	p.Glu others(6): Show p.Glu573Lys	ARMC9	ENSG00000135931.19	transcript	ENST00000611582.5	protein_coding	18/25	1826/7879	1717/2457	573/818		chr2	TogoVar
ARMCX1_chrX_101545547_101559700	101552811	C C	G G	splice_region_variant splice_region_variant	LOW	HG01243.hp1 HG02976.hp1 HG03195.hp1 others(2): Show HG01243.hp1 HG02976.hp1 HG03195.hp1 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0003 a0001c0001t0006g0001 a0001c0001t0006g0003	5	302	0.0166	0	c.-12 others(4): Show c.-120C>G		ARMCX1	ENSG00000126947.13	transcript	ENST00000372829.8	protein_coding	4/4					chrX	TogoVar
ARMCX2_chrX_101650281_101664850	101658072	C C	CCTT CCTT	splice_region_variant splice_region_variant	LOW	HG01069.hp1 HG01071.hp2 HG01168.hp2 others(46): Show HG01069.hp1 HG01071.hp2 HG01168.hp2 HG01255.hp1 HG01361.hp2 HG01516.hp2 HG02055.hp1 HG02056.hp1 HG02129.hp1 HG02145.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 NA18906.hp2 NA19066.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0042 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0042 a0001c0001t0004g0030 a0001c0002t0002g0006	49	335	0.1463	3	c.-12 others(14): Show c.-128_-128+1insAAG		ARMCX2	ENSG00000184867.14	transcript	ENST00000356824.9	protein_coding	5/6					chrX	TogoVar
ARMH1_chr1_44669714_44730591	44724244	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00621.hp1 HG00621.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0168 a0004c0005t0001g0168	1	288	0.0035	0	c.847 others(3): Show c.847G>A	p.Asp others(6): Show p.Asp283Asn	ARMH1	ENSG00000198520.12	transcript	ENST00000535358.6	protein_coding	7/12	1029/1693	847/1323	283/440		chr1	TogoVar
ARMH3_chr10_101840599_102061173	101957736	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(242): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.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 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0004t0009 a0002c0003t0003 a0003c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(242): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0258 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0038 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0191 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0003g0099 a0001c0001t0003g0104 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0223 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0004g0095 a0001c0001t0004g0124 a0001c0001t0004g0130 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0190 a0001c0001t0004g0216 a0001c0001t0005g0233 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0243 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0259 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0007g0003 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0008g0159 a0001c0001t0009g0242 a0001c0001t0010g0174 a0001c0001t0011g0059 a0001c0001t0012g0148 a0001c0001t0013g0036 a0001c0001t0014g0145 a0001c0004t0009g0244 a0002c0003t0003g0181 a0003c0002t0001g0195	245	262	0.9351	1	c.149 others(7): Show c.1496-5dupT		ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	20/25					chr10	TogoVar
ARMH3_chr10_101840599_102061173	101957736	T T	TAA TAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG01516.hp2 HG01993.hp1 others(2): Show HG01255.hp2 HG01516.hp2 HG01993.hp1 NA18954.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0002g0097 a0001c0001t0008g0192	5	262	0.0191	2	c.149 others(15): Show c.1496-6_1496-5dupTT		ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	20/25					chr10	TogoVar
ARMH3_chr10_101840599_102061173	102010027	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	262	0.0038	0	c.832 others(5): Show c.832-4A>G		ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	11/25					chr10	TogoVar
ARMH4_chr14_57995761_58157213	58012155	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(152): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010	a0001c0001 a0001c0006 a0001c0008 others(15): Show a0001c0001 a0001c0006 a0001c0008 a0001c0013 a0002c0002 a0002c0005 a0003c0003 a0003c0009 a0003c0010 a0003c0012 a0003c0015 a0004c0004 a0004c0011 a0005c0007 a0006c0022 a0008c0017 a0009c0018 a0010c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0006t0002 a0001c0006t0003 a0001c0006t0011 a0001c0008t0006 a0001c0008t0012 a0001c0008t0025 a0001c0013t0002 a0001c0013t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0020 a0002c0002t0028 a0002c0002t0029 a0002c0005t0001 a0002c0005t0003 a0002c0005t0010 a0002c0005t0015 a0002c0005t0031 a0002c0005t0036 a0003c0003t0003 a0003c0003t0005 a0003c0003t0007 a0003c0003t0010 a0003c0003t0012 a0003c0003t0024 a0003c0003t0027 a0003c0009t0007 a0003c0009t0011 a0003c0010t0001 a0003c0010t0003 a0003c0012t0005 a0003c0015t0005 a0004c0004t0003 a0004c0004t0005 a0004c0004t0007 a0004c0004t0009 a0004c0004t0010 a0004c0011t0005 a0004c0011t0008 a0005c0007t0002 a0005c0007t0003 a0005c0007t0006 a0005c0007t0009 a0005c0007t0017 a0006c0022t0003 a0008c0017t0005 a0009c0018t0003 a0010c0019t0003	a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0078 others(151): Show a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0173 a0001c0001t0001g0232 a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0119 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0160 a0001c0001t0002g0186 a0001c0001t0005g0142 a0001c0001t0005g0146 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0154 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0046 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0065 a0001c0001t0006g0089 a0001c0001t0006g0139 a0001c0001t0008g0037 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0010g0080 a0001c0001t0011g0073 a0001c0001t0011g0158 a0001c0001t0019g0004 a0001c0001t0021g0147 a0001c0001t0022g0091 a0001c0001t0023g0074 a0001c0001t0026g0070 a0001c0006t0002g0110 a0001c0006t0002g0111 a0001c0006t0003g0138 a0001c0006t0011g0137 a0001c0008t0006g0063 a0001c0008t0006g0135 a0001c0008t0012g0122 a0001c0008t0025g0136 a0001c0013t0002g0156 a0001c0013t0005g0155 a0002c0002t0001g0225 a0002c0002t0001g0233 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0002g0040 a0002c0002t0002g0118 a0002c0002t0002g0180 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0201 a0002c0002t0002g0205 a0002c0002t0002g0235 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0003g0191 a0002c0002t0003g0197 a0002c0002t0003g0199 a0002c0002t0003g0209 a0002c0002t0005g0189 a0002c0002t0006g0178 a0002c0002t0006g0179 a0002c0002t0006g0181 a0002c0002t0006g0202 a0002c0002t0020g0215 a0002c0002t0028g0255 a0002c0002t0029g0187 a0002c0005t0001g0172 a0002c0005t0003g0208 a0002c0005t0010g0230 a0002c0005t0010g0231 a0002c0005t0015g0170 a0002c0005t0015g0171 a0002c0005t0031g0162 a0002c0005t0036g0257 a0003c0003t0003g0140 a0003c0003t0005g0103 a0003c0003t0005g0107 a0003c0003t0007g0227 a0003c0003t0007g0228 a0003c0003t0010g0017 a0003c0003t0012g0014 a0003c0003t0012g0016 a0003c0003t0024g0081 a0003c0003t0027g0015 a0003c0009t0007g0161 a0003c0009t0011g0010 a0003c0010t0001g0124 a0003c0010t0003g0126 a0003c0012t0005g0112 a0003c0015t0005g0007 a0004c0004t0003g0022 a0004c0004t0003g0028 a0004c0004t0005g0020 a0004c0004t0007g0018 a0004c0004t0007g0024 a0004c0004t0007g0025 a0004c0004t0009g0030 a0004c0004t0009g0031 a0004c0004t0009g0033 a0004c0004t0009g0034 a0004c0004t0010g0019 a0004c0011t0005g0164 a0004c0011t0005g0165 a0004c0011t0008g0041 a0004c0011t0008g0163 a0005c0007t0002g0193 a0005c0007t0002g0213 a0005c0007t0003g0195 a0005c0007t0003g0200 a0005c0007t0006g0252 a0005c0007t0009g0204 a0005c0007t0017g0002 a0006c0022t0003g0100 a0008c0017t0005g0068 a0009c0018t0003g0067 a0010c0019t0003g0026	155	258	0.6008	-1	c.209 others(7): Show c.2090-6delT		ARMH4	ENSG00000139971.15	transcript	ENST00000267485.7	protein_coding	5/7					chr14	TogoVar
ARMS2_chr10_122449653_122462352	122457349	TGCACTTG others(200): Show TGCACTTGCTGCATTTCAAATGCTTGGCAGTCACATGTAGTTAGTGGCTA CCCTCTTGGACAGCACAGATAGAGATTATTTCCATCACTGCAGAAAATTC TAGACTTTGAGCTTCTTGAGGACAGGGGCTTGATCATTCGACACTGCTTT ACAGTGTCTAGCAGTGTCTACCCTGTGGCAGGGGCTCAGGAAATTTTTCC TGAACCGA	T T	splice_region_variant splice_region_variant	LOW	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(127): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp1 HG03831.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18987.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002	a0001c0001t0002g0012 a0002c0002t0002g0002 a0002c0002t0002g0007 others(6): Show a0001c0001t0002g0012 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0033 a0003c0003t0002g0012	130	424	0.3066	-207	c.41 others(9): Show c.417_*623del		ARMS2	ENSG00000254636.1	transcript	ENST00000528446.1	protein_coding	2/2					chr10	TogoVar
ARNT_chr1_150804713_150881599	150817440	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03239.hp2 HG03239.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0030 a0004c0004t0030	a0004c0004t0030g0031 a0004c0004t0030g0031	1	326	0.0031	0	c.150 others(6): Show c.1506-7C>T		ARNT	ENSG00000143437.21	transcript	ENST00000358595.10	protein_coding	15/21					chr1	TogoVar
ARPC1A_chr7_99320898_99371262	99344286	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG01516.hp1 HG01517.hp2 others(29): Show HG01346.hp2 HG01516.hp1 HG01517.hp2 HG02083.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03139.hp1 HG03139.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0271 a0001c0001t0001g0272 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304	32	316	0.1013	0	c.170 others(5): Show c.170-7C>T		ARPC1A	ENSG00000241685.10	transcript	ENST00000262942.10	protein_coding	3/9					chr7	TogoVar
ARPC1A_chr7_99320898_99371262	99354121	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18977.hp1 NA19004.hp1 NA19063.hp1 NA18977.hp1 NA19004.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0038 a0002c0002t0001g0047 a0002c0002t0001g0049	3	316	0.0095	0	c.713 others(3): Show c.713A>G	p.Gln others(6): Show p.Gln238Arg	ARPC1A	ENSG00000241685.10	transcript	ENST00000262942.10	protein_coding	6/10	849/1582	713/1113	238/370		chr7	TogoVar
ARPC2_chr2_218212189_218259348	218238797	G G	GGGCAAGG others(67): Show GGGCAAGGAAGGAGAGAACAGGGCAGTTATCCATTATAGGGATGATGAGA CCATGTGAGTGTAGAATTTGGTCCT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	1	332	0.0030	74	c.455 others(85): Show c.455+6_455+7insGTAGAATTTGGTCCTGGCAAGGAAGGAGAGAACA GGGCAGTTATCCATTATAGGGATGATGAGACCATGTGAGT		ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding	6/10				INFO_REALIGN_3_PRIME	chr2	TogoVar
ARPC2_chr2_218212189_218259348	218238857	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00408.hp2 HG00423.hp2 others(122): Show HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG03239.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19091.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0223 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0044 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0002t0001g0023 a0001c0002t0001g0049 a0001c0002t0001g0070 a0001c0002t0001g0086 a0002c0004t0001g0001	125	332	0.3765	0	c.455 others(5): Show c.455+7A>G		ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding	6/10					chr2	TogoVar
ARPC2_chr2_218212189_218259348	218249361	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG03195.hp1 HG03209.hp1 HG01884.hp2 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0126	3	332	0.0090	0	c.677 others(5): Show c.677-3C>T		ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding	8/10					chr2	TogoVar
ARPC3_chr12_110429823_110455337	110436200	CACTTCTA others(6): Show CACTTCTAAAACAG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	334	0.0030	-13	c.380 others(22): Show c.380-9_383delCTGTTTTAGAAGT	p.Glu others(5): Show p.Glu127fs	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding	6/7	460/946	380/537	127/178		chr12	TogoVar
ARPC3_chr12_110429823_110455337	110436687	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01123.hp1 HG01943.hp1 others(12): Show HG01081.hp2 HG01123.hp1 HG01943.hp1 HG02647.hp1 HG02809.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03490.hp1 HG03579.hp2 HG03704.hp1 NA18612.hp1 NA18941.hp1 NA18971.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0052 others(11): Show a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0191 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0255 a0001c0001t0002g0188	15	334	0.0449	1	c.253 others(6): Show c.253-5dupT		ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding	4/6					chr12	TogoVar
ARPC3_chr12_110429823_110455337	110436687	G G	GAA GAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00423.hp2 HG01243.hp2 others(22): Show HG00423.hp1 HG00423.hp2 HG01243.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02698.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18948.hp1 NA18966.hp2 NA18970.hp2 NA18998.hp2 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19081.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0031 others(18): Show a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0253	25	334	0.0749	2	c.253 others(13): Show c.253-6_253-5dupTT		ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding	4/6					chr12	TogoVar
ARPC3_chr12_110429823_110455337	110436687	G G	GAAA GAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG01175.hp1 HG01361.hp2 others(15): Show HG00323.hp2 HG01175.hp1 HG01361.hp2 HG01891.hp1 HG02055.hp2 HG02809.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG04184.hp2 NA18974.hp1 NA18994.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0096 others(15): Show a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0149 a0001c0001t0001g0207 a0001c0001t0001g0220 a0001c0001t0001g0249	18	334	0.0539	3	c.253 others(14): Show c.253-7_253-5dupTTT		ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding	4/6					chr12	TogoVar
ARPC3_chr12_110429823_110455337	110436687	G G	GAAAA GAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02280.hp1 HG02451.hp1 others(9): Show HG01891.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG03130.hp2 HG03516.hp1 HG03710.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0085 a0001c0001t0001g0086 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0229	12	334	0.0359	4	c.253 others(15): Show c.253-8_253-5dupTTTT		ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding	4/6					chr12	TogoVar
ARPC5L_chr9_124857130_124882733	124864107	G G	A A	splice_region_variant splice_region_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0072 a0001c0001t0013g0072	1	404	0.0025	0	c.-86 others(4): Show c.-864G>A		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	2/6					chr9	TogoVar
ARPC5L_chr9_124857130_124882733	124876870	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01884.hp1 HG02486.hp1 others(1): Show HG00639.hp1 HG01884.hp1 HG02486.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	4	404	0.0099	0	c.400 others(5): Show c.400-8C>T		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	5/5					chr9	TogoVar
ARPP21_chr3_35634525_35799486	35792378	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01515.hp1 HG01891.hp1 others(32): Show HG00639.hp1 HG01515.hp1 HG01891.hp1 HG02004.hp2 HG02071.hp2 HG02109.hp1 HG02280.hp2 HG02486.hp1 HG02647.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp1 HG04228.hp2 NA18942.hp2 NA18945.hp1 NA18956.hp2 NA18974.hp1 NA18981.hp2 NA18987.hp2 NA18988.hp2 NA19005.hp2 NA19010.hp2 NA19056.hp1 NA19064.hp1 NA19077.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0003c0014t0001	a0001c0001t0001g0031 a0001c0001t0001g0067 a0001c0001t0001g0200 others(32): Show a0001c0001t0001g0031 a0001c0001t0001g0067 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0002g0194 a0001c0001t0003g0126 a0001c0002t0001g0055 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0198 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0005t0001g0107 a0001c0005t0001g0111 a0001c0005t0003g0091 a0003c0014t0001g0253	35	266	0.1316	0	c.213 others(6): Show c.2138-4G>A		ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	19/20					chr3	TogoVar
ARPP21_chr3_35634525_35799486	35792533	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	266	0.0038	0	c.228 others(6): Show c.2286+3G>T		ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	20/20					chr3	TogoVar
ARR3_chrX_70263334_70286840	70276429	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp2 NA19043.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0060 a0001c0003t0001g0061	2	319	0.0063	0	c.346 others(5): Show c.346-4C>T		ARR3	ENSG00000120500.19	transcript	ENST00000307959.9	protein_coding	6/16					chrX	TogoVar
ARRB1_chr11_75255122_75356661	75287378	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG02965.hp1 NA19240.hp2 HG02723.hp1 HG02965.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0074 a0001c0002t0001g0294 a0001c0002t0002g0019 a0001c0002t0001g0074 a0001c0002t0001g0294 a0001c0002t0002g0019	3	320	0.0094	0	c.52- others(4): Show c.52-3C>T		ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	2/15					chr11	TogoVar
ARRB2_chr17_4705632_4726497	4720210	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0068 a0001c0002t0006g0068	1	432	0.0023	0	c.918 others(5): Show c.918-6T>C		ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding	11/14					chr17	TogoVar
ARRDC1_chr9_137600686_137620360	137613461	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0002 a0001c0011t0001g0002	1	338	0.0030	0	c.231 others(3): Show c.231G>T	p.Gly others(5): Show p.Gly77Gly	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding	3/8	263/1556	231/1302	77/433		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137614293	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp2 NA18998.hp2 NA18999.hp1 others(2): Show HG02735.hp2 NA18998.hp2 NA18999.hp1 NA19011.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0009 a0001c0006t0001g0009 a0001c0001t0001g0009 a0001c0006t0001g0009	5	338	0.0148	0	c.619 others(5): Show c.619-6C>T		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding	5/7					chr9	TogoVar
ARRDC2_chr19_18003170_18019102	18008590	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(54): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00673.hp1 HG01074.hp2 HG01081.hp1 HG01192.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02132.hp2 HG02258.hp2 HG02523.hp2 HG02615.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp2 NA18522.hp2 NA18747.hp2 NA18941.hp2 NA18946.hp1 NA18951.hp2 NA18964.hp1 NA18971.hp1 NA18986.hp2 NA18992.hp2 NA18998.hp1 NA19001.hp1 NA19009.hp2 NA19057.hp2 NA19067.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp2	a0002 a0004 a0011 a0002 a0004 a0011	a0002c0002 a0004c0005 a0011c0013 a0002c0002 a0004c0005 a0011c0013	a0002c0002t0002 a0002c0002t0010 a0004c0005t0002 others(1): Show a0002c0002t0002 a0002c0002t0010 a0004c0005t0002 a0011c0013t0002	a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0017 others(15): Show a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0017 a0002c0002t0002g0024 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0010g0004 a0004c0005t0002g0018 a0011c0013t0002g0049	57	414	0.1377	0	c.274 others(5): Show c.274+6G>A		ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding	1/7					chr19	TogoVar
ARRDC2_chr19_18003170_18019102	18009586	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	414	0.0024	0	c.490 others(5): Show c.490-6C>T		ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding	3/7					chr19	TogoVar
ARRDC2_chr19_18003170_18019102	18010198	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0013 a0001c0015t0001g0013	1	414	0.0024	0	c.852 others(3): Show c.852C>G	p.Val others(6): Show p.Val284Val	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding	6/8	993/2501	852/1224	284/407		chr19	TogoVar
ARRDC3_chr5_91363631_91388317	91373680	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01952.hp2 HG02148.hp1 NA18962.hp2 HG01952.hp2 HG02148.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	3	402	0.0075	0	c.118 others(6): Show c.1188+4A>C		ARRDC3	ENSG00000113369.9	transcript	ENST00000265138.4	protein_coding	7/7					chr5	TogoVar
ARRDC4_chr15_97955703_97978833	97965593	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp2 HG02970.hp2 HG02818.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0042 a0002c0002t0024g0042	2	422	0.0047	0	c.308 others(5): Show c.308-7C>T		ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	1/7					chr15	TogoVar
ARRDC4_chr15_97955703_97978833	97969875	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 NA20129.hp1 NA20129.hp2 HG02572.hp2 NA20129.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0029 a0002c0002t0013g0029	3	422	0.0071	0	c.883 others(5): Show c.883-8C>T		ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	5/7					chr15	TogoVar
ARRDC4_chr15_97955703_97978833	97969885	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0005 a0002c0024t0005	a0002c0024t0005g0015 a0002c0024t0005g0015	1	422	0.0024	0	c.885 others(3): Show c.885A>G	p.Val others(6): Show p.Val295Val	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	6/8	1044/4062	885/1257	295/418		chr15	TogoVar
ARRDC5_chr19_4885437_4907896	4896664	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	412	0.0024	0	c.459 others(5): Show c.459+7A>C		ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	2/2					chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4896666	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03209.hp1 HG03453.hp1 others(2): Show HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 others(2): Show a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0030	5	412	0.0121	0	c.459 others(5): Show c.459+5C>T		ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	2/2					chr19	TogoVar
ARSA_chr22_50617754_50633152	50626061	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00423.hp1 NA19070.hp2 HG00423.hp1 NA19070.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0034 a0006c0008t0003g0034	2	460	0.0044	0	c.982 others(3): Show c.982G>A	p.Val others(6): Show p.Val328Met	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding	6/8	1355/4294	982/1530	328/509		chr22	TogoVar
ARSF_chrX_3036471_3117727	3068070	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp1 HG01071.hp2 HG01109.hp1 others(12): Show HG01070.hp1 HG01071.hp2 HG01109.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004 a0004c0011	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0002c0004t0001 a0004c0011t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(12): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0010t0001g0030 a0001c0010t0001g0037 a0002c0004t0001g0087 a0002c0004t0001g0181 a0002c0004t0001g0182 a0004c0011t0001g0031	15	193	0.0777	0	c.-28 others(5): Show c.-28-3A>G		ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	1/10					chrX	TogoVar
ARSF_chrX_3036471_3117727	3103757	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00597.hp1 HG01167.hp1 others(10): Show HG00099.hp2 HG00597.hp1 HG01167.hp1 HG01169.hp1 HG01496.hp2 HG02083.hp1 HG02451.hp2 HG03225.hp1 HG03491.hp1 HG03492.hp1 NA19030.hp1 NA19060.hp1 NA19240.hp2	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0006	a0000c0018 a0001c0002 a0001c0009 others(4): Show a0000c0018 a0001c0002 a0001c0009 a0001c0012 a0002c0003 a0002c0004 a0006c0022	a0000c0018t0002 a0001c0002t0001 a0001c0009t0001 others(4): Show a0000c0018t0002 a0001c0002t0001 a0001c0009t0001 a0001c0012t0001 a0002c0003t0001 a0002c0004t0001 a0006c0022t0001	a0000c0018t0002g0129 a0001c0002t0001g0019 a0001c0002t0001g0065 others(10): Show a0000c0018t0002g0129 a0001c0002t0001g0019 a0001c0002t0001g0065 a0001c0009t0001g0014 a0001c0009t0001g0015 a0001c0012t0001g0086 a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0047 a0002c0003t0001g0104 a0002c0003t0001g0146 a0002c0004t0001g0127 a0006c0022t0001g0174	13	193	0.0674	0	c.110 others(6): Show c.1103-5T>C		ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	8/10					chrX	TogoVar
ARSG_chr17_68286495_68425814	68368550	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00609.hp2 HG00639.hp2 others(67): Show HG00099.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18994.hp1 NA18994.hp2 NA19030.hp1 NA19054.hp2 NA19060.hp2 NA19065.hp2 NA19081.hp2 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0002 a0006 a0009 others(1): Show a0002 a0006 a0009 a0010	a0002c0002 a0002c0014 a0002c0017 others(3): Show a0002c0002 a0002c0014 a0002c0017 a0006c0008 a0009c0016 a0010c0029	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0014t0001 a0002c0017t0001 a0006c0008t0001 a0006c0008t0002 a0009c0016t0002 a0010c0029t0002	a0002c0002t0001g0022 a0002c0002t0001g0027 a0002c0002t0001g0032 others(67): Show a0002c0002t0001g0022 a0002c0002t0001g0027 a0002c0002t0001g0032 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0047 a0002c0002t0001g0060 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0165 a0002c0002t0001g0171 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0192 a0002c0002t0001g0196 a0002c0002t0001g0205 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0238 a0002c0002t0001g0246 a0002c0002t0001g0270 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0002g0075 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0104 a0002c0002t0002g0111 a0002c0002t0002g0116 a0002c0002t0002g0119 a0002c0002t0002g0144 a0002c0002t0002g0180 a0002c0002t0002g0183 a0002c0002t0002g0216 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0227 a0002c0002t0002g0290 a0002c0002t0002g0298 a0002c0002t0002g0302 a0002c0002t0003g0117 a0002c0014t0001g0001 a0002c0014t0001g0004 a0002c0017t0001g0065 a0002c0017t0001g0164 a0006c0008t0001g0021 a0006c0008t0001g0059 a0006c0008t0001g0129 a0006c0008t0001g0188 a0006c0008t0001g0240 a0006c0008t0002g0078 a0006c0008t0002g0089 a0006c0008t0002g0102 a0006c0008t0002g0191 a0006c0008t0002g0222 a0009c0016t0002g0096 a0009c0016t0002g0136 a0010c0029t0002g0217	70	304	0.2303	0	c.707 others(3): Show c.707C>G	p.Thr others(6): Show p.Thr236Ser	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	7/12	1332/2554	707/1578	236/525		chr17	TogoVar
ARSG_chr17_68286495_68425814	68395068	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp1 HG01515.hp1 HG03579.hp1 others(1): Show HG00733.hp1 HG01515.hp1 HG03579.hp1 HG03688.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0005 a0003c0010 a0004c0012 a0001c0005 a0003c0010 a0004c0012	a0001c0005t0001 a0003c0010t0001 a0004c0012t0001 a0001c0005t0001 a0003c0010t0001 a0004c0012t0001	a0001c0005t0001g0018 a0001c0005t0001g0043 a0003c0010t0001g0042 others(1): Show a0001c0005t0001g0018 a0001c0005t0001g0043 a0003c0010t0001g0042 a0004c0012t0001g0257	4	304	0.0132	0	c.109 others(6): Show c.1092-5C>T		ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	9/11					chr17	TogoVar
ARSK_chr5_95550101_95610102	95567871	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01975.hp1 HG01975.hp2 HG02896.hp1 others(4): Show HG01975.hp1 HG01975.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0059 a0001c0001t0001g0151 a0001c0005t0002g0015 others(2): Show a0001c0001t0001g0059 a0001c0001t0001g0151 a0001c0005t0002g0015 a0001c0005t0002g0144 a0001c0005t0002g0145	7	336	0.0208	-1	c.257 others(6): Show c.257-6delT		ARSK	ENSG00000164291.17	transcript	ENST00000380009.9	protein_coding	2/7				INFO_REALIGN_3_PRIME	chr5	TogoVar

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