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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
AGER_chr6_32175969_32189253	32183108	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	461	0.0022	0	c.508 others(5): Show c.508+6T>C		AGER	ENSG00000204305.16	transcript	ENST00000375076.9	protein_coding	5/10					chr6	TogoVar
AGFG2_chr7_100534203_100573220	100548818	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp2 HG03453.hp2 NA19030.hp2 HG03225.hp2 HG03453.hp2 NA19030.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0001 a0006c0009t0001 a0002c0002t0001 a0006c0009t0001	a0002c0002t0001g0017 a0002c0002t0001g0204 a0006c0009t0001g0059 a0002c0002t0001g0017 a0002c0002t0001g0204 a0006c0009t0001g0059	3	246	0.0122	0	c.222 others(5): Show c.222-4A>G		AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	1/11					chr7	TogoVar
AGGF1_chr5_77025404_77070234	77034526	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG02258.hp2 HG02559.hp1 others(4): Show HG00642.hp2 HG02258.hp2 HG02559.hp1 HG03139.hp2 HG03516.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0277 a0001c0002t0001g0238 a0001c0002t0001g0239 others(4): Show a0001c0001t0001g0277 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281	7	438	0.0160	0	c.313 others(5): Show c.313+6T>C		AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	2/13					chr5	TogoVar
AGGF1_chr5_77025404_77070234	77061699	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02895.hp2 HG02970.hp2 others(5): Show HG02486.hp2 HG02895.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0008 a0001c0001t0017	a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0228 others(5): Show a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0228 a0001c0001t0008g0229 a0001c0001t0008g0382 a0001c0001t0008g0383 a0001c0001t0017g0381 a0001c0001t0017g0384	8	438	0.0183	0	c.184 others(6): Show c.1845-4A>G		AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	12/13					chr5	TogoVar
AGK_chr7_141546410_141660244	141555572	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	274	0.0037	0	c.101 others(5): Show c.101+5C>T		AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	2/15					chr7	TogoVar
AGK_chr7_141546410_141660244	141615467	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	274	0.0037	0	c.424 others(5): Show c.424-4C>G		AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	7/15					chr7	TogoVar
AGL_chr1_99845361_99929020	99877634	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0183 a0003c0006t0001g0183	1	318	0.0031	0	c.142 others(6): Show c.1424-7T>A		AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	11/33					chr1	TogoVar
AGL_chr1_99845361_99929020	99881185	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(171): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp2 NA19081.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(13): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0016 a0017 a0018 a0020 a0023 a0024	a0001c0001 a0001c0002 a0001c0014 others(19): Show a0001c0001 a0001c0002 a0001c0014 a0002c0003 a0002c0007 a0004c0005 a0004c0018 a0006c0008 a0007c0009 a0007c0024 a0008c0010 a0009c0013 a0009c0032 a0010c0012 a0011c0011 a0014c0030 a0016c0028 a0017c0027 a0018c0026 a0020c0029 a0023c0016 a0024c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0002t0005 a0001c0002t0008 a0001c0014t0016 a0002c0003t0005 a0002c0003t0006 a0002c0003t0021 a0002c0007t0002 a0002c0007t0005 a0002c0007t0006 a0004c0005t0002 a0004c0005t0003 a0004c0018t0005 a0006c0008t0007 a0006c0008t0008 a0007c0009t0004 a0007c0024t0015 a0008c0010t0010 a0009c0013t0004 a0009c0032t0004 a0010c0012t0006 a0011c0011t0014 a0014c0030t0006 a0016c0028t0002 a0017c0027t0013 a0018c0026t0009 a0020c0029t0013 a0023c0016t0023 a0024c0034t0005	a0001c0001t0001g0010 a0001c0001t0001g0212 a0001c0001t0001g0213 others(159): Show a0001c0001t0001g0010 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0245 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0297 a0001c0001t0003g0012 a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0243 a0001c0001t0003g0248 a0001c0001t0005g0252 a0001c0001t0007g0207 a0001c0001t0007g0229 a0001c0001t0007g0231 a0001c0001t0007g0233 a0001c0001t0007g0234 a0001c0001t0007g0240 a0001c0001t0008g0260 a0001c0001t0009g0104 a0001c0001t0009g0105 a0001c0001t0011g0112 a0001c0001t0011g0176 a0001c0001t0011g0228 a0001c0001t0017g0129 a0001c0001t0017g0130 a0001c0002t0005g0041 a0001c0002t0008g0051 a0001c0014t0016g0127 a0001c0014t0016g0157 a0002c0003t0005g0019 a0002c0003t0005g0024 a0002c0003t0005g0029 a0002c0003t0005g0031 a0002c0003t0005g0033 a0002c0003t0005g0034 a0002c0003t0005g0035 a0002c0003t0005g0036 a0002c0003t0005g0038 a0002c0003t0005g0039 a0002c0003t0005g0040 a0002c0003t0005g0052 a0002c0003t0005g0054 a0002c0003t0005g0092 a0002c0003t0005g0100 a0002c0003t0005g0103 a0002c0003t0006g0046 a0002c0003t0006g0047 a0002c0003t0006g0048 a0002c0003t0006g0049 a0002c0003t0006g0050 a0002c0003t0006g0055 a0002c0003t0006g0057 a0002c0003t0006g0095 a0002c0003t0021g0043 a0002c0007t0002g0003 a0002c0007t0002g0146 a0002c0007t0002g0147 a0002c0007t0002g0148 a0002c0007t0005g0279 a0002c0007t0005g0287 a0002c0007t0005g0290 a0002c0007t0006g0269 a0004c0005t0002g0107 a0004c0005t0002g0109 a0004c0005t0002g0110 a0004c0005t0002g0113 a0004c0005t0002g0114 a0004c0005t0002g0122 a0004c0005t0002g0123 a0004c0005t0002g0124 a0004c0005t0002g0125 a0004c0005t0002g0141 a0004c0005t0002g0154 a0004c0005t0002g0158 a0004c0005t0002g0162 a0004c0005t0002g0163 a0004c0005t0002g0164 a0004c0005t0002g0167 a0004c0005t0002g0171 a0004c0005t0002g0173 a0004c0005t0003g0119 a0004c0005t0003g0165 a0004c0005t0003g0166 a0004c0018t0005g0032 a0006c0008t0007g0230 a0006c0008t0007g0241 a0006c0008t0008g0016 a0006c0008t0008g0203 a0007c0009t0004g0037 a0007c0009t0004g0053 a0007c0009t0004g0075 a0007c0024t0015g0236 a0008c0010t0010g0208 a0008c0010t0010g0209 a0008c0010t0010g0210 a0009c0013t0004g0017 a0009c0013t0004g0045 a0009c0032t0004g0216 a0010c0012t0006g0006 a0011c0011t0014g0204 a0011c0011t0014g0247 a0014c0030t0006g0274 a0016c0028t0002g0249 a0017c0027t0013g0202 a0018c0026t0009g0211 a0020c0029t0013g0214 a0023c0016t0023g0205 a0024c0034t0005g0198	174	318	0.5472	0	c.200 others(6): Show c.2001+8T>C		AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	15/33					chr1	TogoVar
AGL_chr1_99845361_99929020	99892424	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG02132.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0018 a0015c0021t0001g0018	1	318	0.0031	0	c.308 others(6): Show c.3084-8T>C		AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	23/33					chr1	TogoVar
AGMAT_chr1_15566699_15590051	15583400	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp2 HG00438.hp1 others(243): Show HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0002 a0001c0007 a0001c0008 others(11): Show a0001c0002 a0001c0007 a0001c0008 a0001c0010 a0001c0017 a0003c0003 a0003c0004 a0003c0005 a0003c0009 a0003c0012 a0003c0014 a0003c0019 a0005c0018 a0007c0016	a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 others(87): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0014 a0001c0002t0017 a0001c0002t0019 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0002t0028 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0051 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0002t0073 a0001c0007t0007 a0001c0007t0009 a0001c0007t0026 a0001c0008t0002 a0001c0008t0004 a0001c0008t0014 a0001c0008t0071 a0001c0008t0072 a0001c0010t0074 a0001c0010t0075 a0001c0017t0002 a0003c0003t0005 a0003c0003t0006 a0003c0003t0010 a0003c0003t0011 a0003c0003t0013 a0003c0003t0021 a0003c0003t0029 a0003c0003t0030 a0003c0003t0031 a0003c0003t0034 a0003c0003t0044 a0003c0003t0052 a0003c0003t0055 a0003c0003t0056 a0003c0003t0058 a0003c0003t0059 a0003c0004t0005 a0003c0004t0006 a0003c0004t0011 a0003c0004t0013 a0003c0004t0016 a0003c0004t0030 a0003c0004t0032 a0003c0004t0033 a0003c0004t0054 a0003c0004t0060 a0003c0004t0061 a0003c0004t0076 a0003c0004t0077 a0003c0005t0007 a0003c0005t0015 a0003c0005t0019 a0003c0005t0020 a0003c0005t0025 a0003c0005t0028 a0003c0005t0038 a0003c0005t0042 a0003c0005t0043 a0003c0005t0048 a0003c0005t0049 a0003c0005t0050 a0003c0009t0005 a0003c0009t0006 a0003c0009t0011 a0003c0009t0013 a0003c0012t0005 a0003c0012t0006 a0003c0014t0053 a0003c0019t0057 a0005c0018t0002 a0007c0016t0014	a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0009 others(178): Show a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0019 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0122 a0001c0002t0002g0130 a0001c0002t0002g0134 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0146 a0001c0002t0002g0148 a0001c0002t0002g0152 a0001c0002t0002g0154 a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0184 a0001c0002t0002g0192 a0001c0002t0002g0196 a0001c0002t0004g0003 a0001c0002t0004g0020 a0001c0002t0004g0034 a0001c0002t0004g0038 a0001c0002t0004g0120 a0001c0002t0004g0121 a0001c0002t0004g0138 a0001c0002t0004g0153 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0173 a0001c0002t0004g0183 a0001c0002t0004g0186 a0001c0002t0004g0198 a0001c0002t0004g0199 a0001c0002t0007g0016 a0001c0002t0007g0123 a0001c0002t0007g0139 a0001c0002t0007g0144 a0001c0002t0007g0194 a0001c0002t0009g0017 a0001c0002t0009g0118 a0001c0002t0009g0119 a0001c0002t0009g0125 a0001c0002t0009g0140 a0001c0002t0009g0143 a0001c0002t0014g0151 a0001c0002t0014g0159 a0001c0002t0014g0167 a0001c0002t0017g0036 a0001c0002t0017g0037 a0001c0002t0019g0124 a0001c0002t0019g0128 a0001c0002t0022g0126 a0001c0002t0022g0150 a0001c0002t0022g0160 a0001c0002t0023g0127 a0001c0002t0023g0156 a0001c0002t0023g0178 a0001c0002t0027g0164 a0001c0002t0027g0176 a0001c0002t0028g0165 a0001c0002t0035g0166 a0001c0002t0035g0169 a0001c0002t0036g0157 a0001c0002t0036g0180 a0001c0002t0037g0155 a0001c0002t0037g0177 a0001c0002t0045g0135 a0001c0002t0046g0193 a0001c0002t0047g0197 a0001c0002t0051g0129 a0001c0002t0062g0195 a0001c0002t0063g0147 a0001c0002t0064g0185 a0001c0002t0065g0161 a0001c0002t0066g0170 a0001c0002t0067g0158 a0001c0002t0068g0133 a0001c0002t0069g0182 a0001c0002t0070g0149 a0001c0002t0073g0175 a0001c0007t0007g0018 a0001c0007t0009g0132 a0001c0007t0009g0137 a0001c0007t0026g0131 a0001c0007t0026g0136 a0001c0008t0002g0189 a0001c0008t0004g0187 a0001c0008t0014g0188 a0001c0008t0071g0190 a0001c0008t0072g0191 a0001c0010t0074g0052 a0001c0010t0075g0053 a0001c0017t0002g0200 a0003c0003t0005g0028 a0003c0003t0005g0063 a0003c0003t0005g0071 a0003c0003t0006g0014 a0003c0003t0006g0027 a0003c0003t0006g0059 a0003c0003t0010g0013 a0003c0003t0010g0026 a0003c0003t0010g0055 a0003c0003t0010g0058 a0003c0003t0010g0079 a0003c0003t0011g0060 a0003c0003t0011g0067 a0003c0003t0011g0078 a0003c0003t0013g0061 a0003c0003t0013g0062 a0003c0003t0013g0066 a0003c0003t0013g0068 a0003c0003t0021g0054 a0003c0003t0021g0080 a0003c0003t0021g0081 a0003c0003t0029g0073 a0003c0003t0029g0075 a0003c0003t0030g0077 a0003c0003t0031g0069 a0003c0003t0031g0070 a0003c0003t0034g0076 a0003c0003t0034g0090 a0003c0003t0044g0074 a0003c0003t0052g0064 a0003c0003t0055g0056 a0003c0003t0056g0057 a0003c0003t0058g0088 a0003c0003t0059g0089 a0003c0004t0005g0005 a0003c0004t0005g0085 a0003c0004t0005g0094 a0003c0004t0005g0096 a0003c0004t0005g0101 a0003c0004t0006g0030 a0003c0004t0006g0091 a0003c0004t0006g0117 a0003c0004t0011g0031 a0003c0004t0011g0084 a0003c0004t0013g0102 a0003c0004t0016g0008 a0003c0004t0030g0092 a0003c0004t0032g0029 a0003c0004t0033g0083 a0003c0004t0033g0105 a0003c0004t0054g0104 a0003c0004t0060g0093 a0003c0004t0061g0082 a0003c0004t0076g0086 a0003c0004t0077g0087 a0003c0005t0007g0116 a0003c0005t0015g0103 a0003c0005t0015g0108 a0003c0005t0015g0111 a0003c0005t0015g0115 a0003c0005t0019g0109 a0003c0005t0020g0015 a0003c0005t0025g0106 a0003c0005t0025g0110 a0003c0005t0028g0072 a0003c0005t0038g0032 a0003c0005t0042g0113 a0003c0005t0043g0065 a0003c0005t0048g0114 a0003c0005t0049g0112 a0003c0005t0050g0107 a0003c0009t0005g0099 a0003c0009t0006g0097 a0003c0009t0011g0098 a0003c0009t0013g0100 a0003c0012t0005g0202 a0003c0012t0006g0039 a0003c0014t0053g0095 a0003c0019t0057g0203 a0005c0018t0002g0201 a0007c0016t0014g0145	246	390	0.6308	0	c.273 others(5): Show c.273-5T>C		AGMAT	ENSG00000116771.6	transcript	ENST00000375826.4	protein_coding	1/6					chr1	TogoVar
AGMO_chr7_15195317_15567015	15366228	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0004 a0016c0022t0004	a0016c0022t0004g0020 a0016c0022t0004g0020	1	236	0.0042	0	c.107 others(6): Show c.1075-6T>A		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	10/12					chr7	TogoVar
AGMO_chr7_15195317_15567015	15390753	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	236	0.0042	0	c.743 others(5): Show c.743-3C>T		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	7/12					chr7	TogoVar
AGO1_chr1_35878209_35935532	35918427	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01071.hp2 HG00741.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0131 a0001c0001t0001g0094 a0001c0001t0001g0131	2	278	0.0072	0	c.226 others(6): Show c.2265+4G>T		AGO1	ENSG00000092847.14	transcript	ENST00000373204.6	protein_coding	17/18					chr1	TogoVar
AGO2_chr8_140515156_140640633	140539313	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02622.hp2 HG02647.hp1 others(4): Show HG01109.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG03098.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0012 a0001c0007 a0001c0012	a0001c0007t0035 a0001c0007t0073 a0001c0007t0074 others(3): Show a0001c0007t0035 a0001c0007t0073 a0001c0007t0074 a0001c0007t0104 a0001c0012t0103 a0001c0012t0119	a0001c0007t0035g0075 a0001c0007t0035g0187 a0001c0007t0073g0189 others(4): Show a0001c0007t0035g0075 a0001c0007t0035g0187 a0001c0007t0073g0189 a0001c0007t0074g0190 a0001c0007t0104g0324 a0001c0012t0103g0213 a0001c0012t0119g0297	7	338	0.0207	0	c.216 others(6): Show c.2169+7T>C		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	16/18					chr8	TogoVar
AGO2_chr8_140515156_140640633	140549305	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0063 a0001c0005t0063	a0001c0005t0063g0299 a0001c0005t0063g0299	1	338	0.0030	0	c.140 others(6): Show c.1404-7C>T		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	11/18					chr8	TogoVar
AGPAT2_chr9_136668143_136692457	136677143	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02622.hp2 HG02818.hp1 others(3): Show HG02451.hp1 HG02622.hp2 HG02818.hp1 HG03130.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021	a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 others(3): Show a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0133 a0001c0001t0003g0101 a0001c0001t0021g0198	6	374	0.0160	0	c.317 others(5): Show c.317-7C>T		AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	2/5					chr9	TogoVar
AGPAT3_chr21_43860223_43992592	43968122	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0241 a0001c0001t0006g0241	1	342	0.0029	0	c.348 others(5): Show c.348+7G>A		AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	4/9					chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43980983	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0112 a0002c0006t0010g0112	1	342	0.0029	0	c.844 others(5): Show c.844-6T>C		AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	8/9					chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43980985	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0112 a0002c0006t0010g0112	1	342	0.0029	0	c.844 others(5): Show c.844-4C>G		AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	8/9					chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43981185	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0112 a0002c0006t0010g0112	1	342	0.0029	0	c.104 others(4): Show c.1040C>A	p.Ala others(6): Show p.Ala347Glu	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	9/10	1274/6565	1040/1131	347/376		chr21	TogoVar
AGPAT4_chr6_161124967_161279061	161129967	T T	C C	splice_region_variant splice_region_variant	LOW	HG00544.hp2 HG00735.hp1 HG01081.hp1 others(113): Show HG00544.hp2 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp1 NA18957.hp1 NA18970.hp1 NA18974.hp2 NA18985.hp1 NA18985.hp2 NA18994.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(48): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0065 a0001c0001t0076 a0001c0001t0080 a0001c0001t0082 a0001c0002t0016 a0001c0002t0023 a0001c0002t0072 a0001c0002t0075 a0001c0003t0005 a0001c0003t0032 a0001c0003t0079 a0001c0003t0084 a0001c0004t0081 a0001c0005t0056	a0001c0001t0005g0053 a0001c0001t0005g0069 a0001c0001t0005g0079 others(113): Show a0001c0001t0005g0053 a0001c0001t0005g0069 a0001c0001t0005g0079 a0001c0001t0005g0099 a0001c0001t0005g0109 a0001c0001t0005g0117 a0001c0001t0005g0124 a0001c0001t0005g0133 a0001c0001t0005g0179 a0001c0001t0005g0257 a0001c0001t0007g0056 a0001c0001t0007g0065 a0001c0001t0007g0070 a0001c0001t0007g0094 a0001c0001t0007g0114 a0001c0001t0007g0118 a0001c0001t0007g0127 a0001c0001t0007g0182 a0001c0001t0007g0188 a0001c0001t0008g0004 a0001c0001t0008g0087 a0001c0001t0008g0092 a0001c0001t0008g0128 a0001c0001t0008g0172 a0001c0001t0008g0173 a0001c0001t0008g0210 a0001c0001t0008g0259 a0001c0001t0008g0260 a0001c0001t0010g0012 a0001c0001t0010g0013 a0001c0001t0010g0014 a0001c0001t0010g0015 a0001c0001t0010g0027 a0001c0001t0010g0158 a0001c0001t0010g0195 a0001c0001t0010g0251 a0001c0001t0012g0035 a0001c0001t0012g0046 a0001c0001t0012g0048 a0001c0001t0012g0121 a0001c0001t0012g0167 a0001c0001t0012g0229 a0001c0001t0014g0138 a0001c0001t0014g0139 a0001c0001t0014g0192 a0001c0001t0014g0214 a0001c0001t0014g0215 a0001c0001t0014g0217 a0001c0001t0018g0135 a0001c0001t0018g0193 a0001c0001t0018g0194 a0001c0001t0018g0198 a0001c0001t0019g0003 a0001c0001t0019g0183 a0001c0001t0019g0199 a0001c0001t0019g0201 a0001c0001t0020g0234 a0001c0001t0020g0240 a0001c0001t0020g0244 a0001c0001t0022g0007 a0001c0001t0022g0008 a0001c0001t0022g0141 a0001c0001t0024g0160 a0001c0001t0024g0261 a0001c0001t0025g0016 a0001c0001t0025g0249 a0001c0001t0026g0113 a0001c0001t0026g0220 a0001c0001t0027g0177 a0001c0001t0027g0242 a0001c0001t0028g0049 a0001c0001t0028g0105 a0001c0001t0030g0169 a0001c0001t0030g0170 a0001c0001t0032g0137 a0001c0001t0034g0126 a0001c0001t0034g0218 a0001c0001t0035g0077 a0001c0001t0036g0104 a0001c0001t0038g0209 a0001c0001t0041g0136 a0001c0001t0042g0161 a0001c0001t0043g0031 a0001c0001t0044g0262 a0001c0001t0045g0258 a0001c0001t0047g0197 a0001c0001t0048g0143 a0001c0001t0050g0010 a0001c0001t0052g0131 a0001c0001t0053g0009 a0001c0001t0054g0252 a0001c0001t0055g0030 a0001c0001t0057g0171 a0001c0001t0058g0032 a0001c0001t0060g0088 a0001c0001t0062g0120 a0001c0001t0065g0116 a0001c0001t0076g0166 a0001c0001t0080g0196 a0001c0001t0082g0002 a0001c0002t0016g0145 a0001c0002t0016g0149 a0001c0002t0016g0152 a0001c0002t0016g0190 a0001c0002t0016g0191 a0001c0002t0023g0050 a0001c0002t0023g0100 a0001c0002t0023g0150 a0001c0002t0072g0162 a0001c0002t0075g0044 a0001c0003t0005g0164 a0001c0003t0032g0250 a0001c0003t0079g0006 a0001c0003t0084g0263 a0001c0004t0081g0028 a0001c0005t0056g0011	116	264	0.4394	0	c.65 others(5): Show c.6573A>G		AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	9/9					chr6	TogoVar
AGPAT5_chr8_6703642_6766503	6757164	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0185 a0003c0009t0001g0185	1	404	0.0025	0	c.871 others(3): Show c.871A>G	p.Met others(6): Show p.Met291Val	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding	8/8	898/5237	871/1095	291/364		chr8	TogoVar
AGPS_chr2_177387773_177548834	177420264	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG01891.hp1 HG02895.hp2 others(4): Show HG00735.hp1 HG01891.hp1 HG02895.hp2 HG02897.hp2 HG03516.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 others(4): Show a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0250 a0001c0001t0005g0251	7	258	0.0271	0	c.261 others(5): Show c.261-5A>C		AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	1/19					chr2	TogoVar
AGR3_chr7_16854412_16886983	16861985	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18953.hp1 NA19001.hp2 NA18953.hp1 NA19001.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0174 a0002c0003t0001g0175	2	458	0.0044	0	c.302 others(3): Show c.302T>C	p.Met others(6): Show p.Met101Thr	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	5/8	369/738	302/501	101/166		chr7	TogoVar
AGR3_chr7_16854412_16886983	16862067	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0316 a0001c0001t0005g0316	1	458	0.0022	0	c.227 others(5): Show c.227-7C>A		AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	4/7					chr7	TogoVar
AGR3_chr7_16854412_16886983	16881945	T T	A A	splice_region_variant splice_region_variant	LOW	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0316 a0001c0001t0005g0316	1	458	0.0022	0	c.-29 others(3): Show c.-29A>T		AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/8					chr7	TogoVar
AGRN_chr1_1015120_1061116	1041174	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00408.hp1 HG01884.hp1 HG02080.hp2 others(7): Show HG00408.hp1 HG01884.hp1 HG02080.hp2 HG02135.hp1 HG02647.hp1 HG02723.hp1 HG02965.hp2 NA18967.hp1 NA18998.hp2 NA19056.hp2	a0004 a0005 a0004 a0005	a0004c0025 a0004c0026 a0004c0056 others(1): Show a0004c0025 a0004c0026 a0004c0056 a0005c0003	a0004c0025t0002 a0004c0025t0005 a0004c0026t0002 others(2): Show a0004c0025t0002 a0004c0025t0005 a0004c0026t0002 a0004c0056t0002 a0005c0003t0002	a0004c0025t0002g0029 a0004c0025t0005g0028 a0004c0026t0002g0031 others(7): Show a0004c0025t0002g0029 a0004c0025t0005g0028 a0004c0026t0002g0031 a0004c0026t0002g0032 a0004c0056t0002g0030 a0005c0003t0002g0012 a0005c0003t0002g0026 a0005c0003t0002g0027 a0005c0003t0002g0077 a0005c0003t0002g0147	10	210	0.0476	0	c.729 others(3): Show c.729C>G	p.Gly others(6): Show p.Gly243Gly	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	5/36	782/7326	729/6138	243/2045		chr1	TogoVar
AGRN_chr1_1015120_1061116	1041950	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(175): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(22): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0014 a0017 a0018 a0020 a0021 a0022 a0023 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032	a0001c0001 a0001c0004 a0001c0006 others(47): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0015 a0001c0019 a0001c0023 a0001c0024 a0001c0028 a0001c0036 a0001c0042 a0001c0044 a0001c0047 a0001c0051 a0001c0052 a0001c0053 a0001c0059 a0001c0063 a0001c0064 a0002c0005 a0002c0062 a0004c0025 a0004c0026 a0004c0056 a0004c0057 a0005c0003 a0006c0010 a0006c0030 a0007c0008 a0008c0009 a0011c0020 a0012c0021 a0013c0029 a0014c0058 a0017c0033 a0018c0034 a0020c0038 a0021c0040 a0022c0065 a0023c0043 a0025c0041 a0026c0039 a0027c0046 a0028c0045 a0029c0061 a0030c0049 a0031c0060 a0032c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0004t0001 a0001c0006t0001 a0001c0007t0005 a0001c0007t0008 a0001c0011t0006 a0001c0011t0008 a0001c0012t0006 a0001c0012t0017 a0001c0015t0001 a0001c0019t0001 a0001c0023t0001 a0001c0024t0006 a0001c0028t0006 a0001c0036t0006 a0001c0042t0001 a0001c0044t0001 a0001c0047t0001 a0001c0051t0002 a0001c0052t0006 a0001c0053t0006 a0001c0059t0001 a0001c0063t0003 a0001c0064t0005 a0002c0005t0004 a0002c0062t0011 a0004c0025t0002 a0004c0025t0005 a0004c0026t0002 a0004c0056t0002 a0004c0057t0003 a0005c0003t0002 a0006c0010t0007 a0006c0030t0001 a0007c0008t0005 a0008c0009t0004 a0011c0020t0009 a0012c0021t0001 a0013c0029t0013 a0014c0058t0008 a0017c0033t0001 a0018c0034t0005 a0020c0038t0001 a0021c0040t0001 a0022c0065t0002 a0023c0043t0001 a0025c0041t0001 a0026c0039t0001 a0027c0046t0004 a0028c0045t0004 a0029c0061t0004 a0030c0049t0001 a0031c0060t0007 a0032c0031t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(170): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0002g0121 a0001c0001t0002g0132 a0001c0001t0014g0002 a0001c0004t0001g0170 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0184 a0001c0004t0001g0193 a0001c0006t0001g0006 a0001c0006t0001g0017 a0001c0006t0001g0165 a0001c0007t0005g0167 a0001c0007t0005g0169 a0001c0007t0005g0180 a0001c0007t0008g0183 a0001c0011t0006g0010 a0001c0011t0008g0050 a0001c0012t0006g0056 a0001c0012t0006g0163 a0001c0012t0017g0145 a0001c0015t0001g0004 a0001c0015t0001g0196 a0001c0019t0001g0074 a0001c0019t0001g0076 a0001c0023t0001g0135 a0001c0023t0001g0136 a0001c0024t0006g0079 a0001c0024t0006g0143 a0001c0028t0006g0166 a0001c0028t0006g0168 a0001c0036t0006g0154 a0001c0042t0001g0016 a0001c0044t0001g0008 a0001c0047t0001g0061 a0001c0051t0002g0144 a0001c0052t0006g0021 a0001c0053t0006g0161 a0001c0059t0001g0171 a0001c0063t0003g0189 a0001c0064t0005g0192 a0002c0005t0004g0176 a0002c0005t0004g0185 a0002c0005t0004g0186 a0002c0005t0004g0187 a0002c0005t0004g0188 a0002c0062t0011g0174 a0004c0025t0002g0029 a0004c0025t0005g0028 a0004c0026t0002g0031 a0004c0026t0002g0032 a0004c0056t0002g0030 a0004c0057t0003g0046 a0005c0003t0002g0012 a0005c0003t0002g0026 a0005c0003t0002g0027 a0005c0003t0002g0077 a0005c0003t0002g0147 a0006c0010t0007g0057 a0006c0010t0007g0059 a0006c0010t0007g0060 a0006c0030t0001g0058 a0007c0008t0005g0177 a0007c0008t0005g0178 a0007c0008t0005g0190 a0007c0008t0005g0191 a0008c0009t0004g0197 a0008c0009t0004g0198 a0008c0009t0004g0199 a0011c0020t0009g0159 a0011c0020t0009g0160 a0012c0021t0001g0138 a0012c0021t0001g0139 a0013c0029t0013g0200 a0014c0058t0008g0195 a0017c0033t0001g0105 a0018c0034t0005g0091 a0020c0038t0001g0148 a0021c0040t0001g0153 a0022c0065t0002g0179 a0023c0043t0001g0066 a0025c0041t0001g0005 a0026c0039t0001g0092 a0027c0046t0004g0062 a0028c0045t0004g0063 a0029c0061t0004g0175 a0030c0049t0001g0110 a0031c0060t0007g0194 a0032c0031t0001g0120	178	210	0.8476	0	c.117 others(6): Show c.1178-6T>C		AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	6/35					chr1	TogoVar
AGRN_chr1_1015120_1061116	1046095	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03130.hp1	a0024 a0024	a0024c0050 a0024c0050	a0024c0050t0018 a0024c0050t0018	a0024c0050t0018g0022 a0024c0050t0018g0022	1	210	0.0048	0	c.280 others(6): Show c.2805+7G>A		AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	16/35					chr1	TogoVar
AGRN_chr1_1015120_1061116	1049050	TGCAGCTC others(76): Show TGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGG CGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02559.hp1 HG02572.hp1 others(3): Show HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp2 NA19030.hp1 NA19043.hp1	a0003 a0003	a0003c0017 a0003c0018 a0003c0037 others(1): Show a0003c0017 a0003c0018 a0003c0037 a0003c0048	a0003c0017t0001 a0003c0018t0002 a0003c0037t0001 others(1): Show a0003c0017t0001 a0003c0018t0002 a0003c0037t0001 a0003c0048t0001	a0003c0017t0001g0033 a0003c0017t0001g0158 a0003c0018t0002g0040 others(3): Show a0003c0017t0001g0033 a0003c0017t0001g0158 a0003c0018t0002g0040 a0003c0018t0002g0041 a0003c0037t0001g0064 a0003c0048t0001g0042	6	210	0.0286	-83	c.429 others(97): Show c.4298+6_4298+88delCGGGGAGGGGACGGGGCCGGGGCAGCTCAGG TGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTG GG		AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	24/35				INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1049903	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0021 a0021	a0021c0040 a0021c0040	a0021c0040t0001 a0021c0040t0001	a0021c0040t0001g0153 a0021c0040t0001g0153	1	210	0.0048	0	c.474 others(4): Show c.4745G>A	p.Gly others(7): Show p.Gly1582Glu	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	27/36	4798/7326	4745/6138	1582/2045		chr1	TogoVar
AGRN_chr1_1015120_1061116	1051248	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0005 a0001c0022t0005	a0001c0022t0005g0049 a0001c0022t0005g0049	1	210	0.0048	0	c.525 others(6): Show c.5254-5C>T		AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	30/35					chr1	TogoVar
AGRN_chr1_1015120_1061116	1051820	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(149): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(14): Show a0001 a0003 a0004 a0005 a0006 a0007 a0012 a0013 a0017 a0018 a0020 a0021 a0023 a0025 a0026 a0030 a0032	a0001c0001 a0001c0002 a0001c0004 others(33): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0015 a0001c0019 a0001c0022 a0001c0023 a0001c0042 a0001c0044 a0001c0047 a0001c0059 a0001c0063 a0001c0064 a0003c0017 a0003c0037 a0003c0048 a0004c0025 a0004c0026 a0004c0056 a0005c0003 a0006c0030 a0007c0008 a0012c0021 a0013c0029 a0017c0033 a0018c0034 a0020c0038 a0021c0040 a0023c0043 a0025c0041 a0026c0039 a0030c0049 a0032c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0002t0004 a0001c0002t0005 a0001c0004t0001 a0001c0006t0001 a0001c0007t0005 a0001c0007t0008 a0001c0011t0006 a0001c0011t0008 a0001c0015t0001 a0001c0019t0001 a0001c0022t0005 a0001c0023t0001 a0001c0042t0001 a0001c0044t0001 a0001c0047t0001 a0001c0059t0001 a0001c0063t0003 a0001c0064t0005 a0003c0017t0001 a0003c0037t0001 a0003c0048t0001 a0004c0025t0002 a0004c0025t0005 a0004c0026t0002 a0004c0056t0002 a0005c0003t0002 a0006c0030t0001 a0007c0008t0005 a0012c0021t0001 a0013c0029t0013 a0017c0033t0001 a0018c0034t0005 a0020c0038t0001 a0021c0040t0001 a0023c0043t0001 a0025c0041t0001 a0026c0039t0001 a0030c0049t0001 a0032c0031t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(144): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0002g0121 a0001c0001t0002g0132 a0001c0001t0014g0002 a0001c0002t0004g0047 a0001c0002t0005g0048 a0001c0004t0001g0170 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0184 a0001c0004t0001g0193 a0001c0006t0001g0006 a0001c0006t0001g0017 a0001c0006t0001g0165 a0001c0007t0005g0167 a0001c0007t0005g0169 a0001c0007t0005g0180 a0001c0007t0008g0183 a0001c0011t0006g0010 a0001c0011t0008g0050 a0001c0015t0001g0004 a0001c0015t0001g0196 a0001c0019t0001g0074 a0001c0019t0001g0076 a0001c0022t0005g0049 a0001c0023t0001g0135 a0001c0023t0001g0136 a0001c0042t0001g0016 a0001c0044t0001g0008 a0001c0047t0001g0061 a0001c0059t0001g0171 a0001c0063t0003g0189 a0001c0064t0005g0192 a0003c0017t0001g0033 a0003c0017t0001g0158 a0003c0037t0001g0064 a0003c0048t0001g0042 a0004c0025t0002g0029 a0004c0025t0005g0028 a0004c0026t0002g0031 a0004c0026t0002g0032 a0004c0056t0002g0030 a0005c0003t0002g0012 a0005c0003t0002g0026 a0005c0003t0002g0027 a0005c0003t0002g0077 a0005c0003t0002g0147 a0006c0030t0001g0058 a0007c0008t0005g0177 a0007c0008t0005g0178 a0007c0008t0005g0190 a0007c0008t0005g0191 a0012c0021t0001g0138 a0012c0021t0001g0139 a0013c0029t0013g0200 a0017c0033t0001g0105 a0018c0034t0005g0091 a0020c0038t0001g0148 a0021c0040t0001g0153 a0023c0043t0001g0066 a0025c0041t0001g0005 a0026c0039t0001g0092 a0030c0049t0001g0110 a0032c0031t0001g0120	152	210	0.7238	0	c.565 others(6): Show c.5651+5C>T		AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	33/35					chr1	TogoVar
AGRN_chr1_1015120_1061116	1054431	C C	CCTCCCTG others(11): Show CCTCCCTGCACACCCAGGG	disruptive_inframe_insertion others(1): Show disruptive_inframe_insertion splice_region_variant	MODERATE	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0010 a0001c0013t0010	a0001c0013t0010g0011 a0001c0013t0010g0011	1	210	0.0048	18	c.587 others(30): Show c.5877-16_5878dupCTCCCTGCACACCCAGGG	p.Arg others(33): Show p.Arg1959_Glu1960insAlaProCysThrProArg	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	35/36	5932/7326	5879/6138	1960/2045	INFO_REALIGN_3_PRIME	chr1	TogoVar
AGTPBP1_chr9_85541539_85746954	85586831	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0066 a0006c0007t0001g0066	1	302	0.0033	0	c.303 others(4): Show c.3033G>C	p.Leu others(7): Show p.Leu1011Phe	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	22/26	3246/4464	3033/3681	1011/1226		chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85669477	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	302	0.0033	0	c.662 others(5): Show c.662+8A>G		AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	8/25					chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85672687	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01261.hp1 HG01433.hp1 others(8): Show HG01069.hp2 HG01261.hp1 HG01433.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04199.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0003c0014t0006	a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 others(8): Show a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0259 a0001c0001t0003g0297 a0001c0001t0006g0298 a0003c0014t0006g0299	11	302	0.0364	-1	c.437 others(6): Show c.437-7delT		AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	6/25					chr9	TogoVar
AGTR2_chrX_116165744_116179974	116170824	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	0	c.-96 others(5): Show c.-96+8T>A		AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	1/2					chrX	TogoVar
AGTR2_chrX_116165744_116179974	116170966	AG AG	A A	splice_region_variant splice_region_variant	LOW	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	-1	c.-95 others(4): Show c.-95delG		AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	2/3				INFO_REALIGN_3_PRIME	chrX	TogoVar
AGTR2_chrX_116165744_116179974	116171034	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	1	c.-36 others(12): Show c.-36+7_-36+8insA		AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	2/2					chrX	TogoVar
AGTR2_chrX_116165744_116179974	116171035	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	0	c.-36 others(5): Show c.-36+8T>A		AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	2/2					chrX	TogoVar
AGTRAP_chr1_11731136_11755769	11747552	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	420	0.0024	0	c.168 others(5): Show c.168+7C>G		AGTRAP	ENSG00000177674.16	transcript	ENST00000314340.10	protein_coding	3/4					chr1	TogoVar
AGXT_chr2_240863824_240885500	240871345	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0015 a0010c0012t0015	a0010c0012t0015g0080 a0010c0012t0015g0081 a0010c0012t0015g0080 a0010c0012t0015g0081	2	444	0.0045	0	c.424 others(5): Show c.424-4T>C		AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	3/10					chr2	TogoVar
AGXT_chr2_240863824_240885500	240875932	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	444	0.0023	0	c.777 others(5): Show c.777-3C>T		AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	7/10					chr2	TogoVar
AGXT_chr2_240863824_240885500	240877632	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0005 a0002c0027t0005	a0002c0027t0005g0006 a0002c0027t0005g0006	1	444	0.0023	0	c.942 others(3): Show c.942G>A	p.Pro others(6): Show p.Pro314Pro	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	9/11	984/2900	942/1179	314/392		chr2	TogoVar
AHCTF1_chr1_246834098_246936948	246841001	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01981.hp2 HG02258.hp2 HG02486.hp2 others(14): Show HG01981.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp1	a0004 a0006 a0012 others(1): Show a0004 a0006 a0012 a0018	a0004c0005 a0004c0021 a0004c0042 others(4): Show a0004c0005 a0004c0021 a0004c0042 a0006c0011 a0006c0039 a0012c0017 a0018c0030	a0004c0005t0005 a0004c0005t0006 a0004c0021t0006 others(5): Show a0004c0005t0005 a0004c0005t0006 a0004c0021t0006 a0004c0042t0006 a0006c0011t0007 a0006c0039t0007 a0012c0017t0013 a0018c0030t0005	a0004c0005t0005g0004 a0004c0005t0005g0005 a0004c0005t0005g0006 others(14): Show a0004c0005t0005g0004 a0004c0005t0005g0005 a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0005g0008 a0004c0005t0006g0044 a0004c0005t0006g0189 a0004c0005t0006g0199 a0004c0005t0006g0360 a0004c0021t0006g0276 a0004c0042t0006g0190 a0006c0011t0007g0020 a0006c0011t0007g0025 a0006c0011t0007g0156 a0006c0039t0007g0024 a0012c0017t0013g0002 a0018c0030t0005g0009	17	376	0.0452	1	c.660 others(7): Show c.6609-4dupT		AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	35/35					chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246853084	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0068 a0002c0008t0002g0068	1	376	0.0027	0	c.456 others(6): Show c.4563+7A>G		AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	32/35					chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246867245	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0002 a0017c0040t0002	a0017c0040t0002g0358 a0017c0040t0002g0358	1	376	0.0027	0	c.334 others(4): Show c.3346A>G	p.Arg others(7): Show p.Arg1116Gly	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	26/36	3724/8887	3346/6801	1116/2266		chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246890064	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG02165.hp1 NA18940.hp2 others(2): Show HG02132.hp2 HG02165.hp1 NA18940.hp2 NA18981.hp2 NA18988.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0221 others(2): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0221 a0001c0001t0001g0354 a0003c0003t0001g0213	5	376	0.0133	0	c.205 others(6): Show c.2051-5T>C		AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	16/35					chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246891774	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03486.hp1 HG03516.hp2 HG03098.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0253 a0001c0004t0002g0290 a0001c0004t0002g0291 a0001c0004t0002g0253 a0001c0004t0002g0290 a0001c0004t0002g0291	3	376	0.0080	0	c.194 others(6): Show c.1945+5G>A		AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	15/35					chr1	TogoVar

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