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
ABCA10_chr17_69143007_69233824	69154324	C C	CACCTGGA others(1): Show CACCTGGAA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00639.hp1 HG01069.hp1 HG01071.hp1 others(33): Show HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0005 a0006 a0007 a0005 a0006 a0007	a0005c0005 a0006c0007 a0006c0016 others(1): Show a0005c0005 a0006c0007 a0006c0016 a0007c0008	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 others(4): Show a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007	a0005c0005t0004g0184 a0005c0005t0004g0199 a0005c0005t0004g0213 others(32): Show a0005c0005t0004g0184 a0005c0005t0004g0199 a0005c0005t0004g0213 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0218 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0240 a0005c0005t0004g0262 a0005c0005t0015g0217 a0006c0007t0004g0111 a0006c0007t0004g0185 a0006c0007t0004g0187 a0006c0007t0004g0188 a0006c0007t0004g0190 a0006c0007t0004g0191 a0006c0007t0004g0192 a0006c0007t0004g0195 a0006c0007t0010g0339 a0006c0007t0010g0340 a0006c0007t0010g0341 a0006c0016t0004g0186 a0006c0016t0004g0189 a0007c0008t0004g0196 a0007c0008t0007g0006 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335 a0007c0008t0007g0336 a0007c0008t0007g0337 a0007c0008t0007g0338	36	348	0.1035	8	c.369 others(19): Show c.3695-6_3696dupTTCCAGGT	p.Glu others(6): Show p.Glu1233fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	31/39	4252/6008	3696/4632	1232/1543		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69155799	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	348	0.0029	0	c.357 others(6): Show c.3576+6C>T		ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	29/38					chr17	TogoVar
ABCA10_chr17_69143007_69233824	69182672	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG01891.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0012 a0009c0022t0012	a0009c0022t0012g0136 a0009c0022t0012g0136	1	348	0.0029	0	c.263 others(6): Show c.2631+3A>G		ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	21/38					chr17	TogoVar
ABCA10_chr17_69143007_69233824	69182813	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(222): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(11): Show a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0015 a0021 a0022 a0023 a0024 a0025 a0026	a0002c0002 a0002c0015 a0003c0003 others(17): Show a0002c0002 a0002c0015 a0003c0003 a0003c0025 a0004c0004 a0004c0006 a0005c0005 a0005c0013 a0005c0014 a0006c0007 a0006c0016 a0007c0008 a0009c0018 a0015c0030 a0021c0023 a0022c0024 a0023c0026 a0024c0027 a0025c0029 a0026c0019	a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 others(25): Show a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 a0003c0003t0001 a0003c0003t0005 a0003c0003t0016 a0003c0025t0001 a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0006t0011 a0005c0005t0004 a0005c0005t0015 a0005c0013t0001 a0005c0014t0001 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007 a0009c0018t0001 a0015c0030t0001 a0021c0023t0001 a0022c0024t0001 a0023c0026t0001 a0024c0027t0001 a0025c0029t0014 a0026c0019t0001	a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0014 others(218): Show a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0183 a0002c0002t0001g0202 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0246 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0005g0312 a0002c0002t0005g0313 a0002c0002t0005g0314 a0002c0002t0005g0315 a0002c0015t0001g0003 a0003c0003t0001g0013 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0041 a0003c0003t0001g0052 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0071 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0103 a0003c0003t0001g0110 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0118 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0137 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0182 a0003c0003t0001g0198 a0003c0003t0001g0201 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0212 a0003c0003t0001g0249 a0003c0003t0001g0261 a0003c0003t0001g0302 a0003c0003t0001g0306 a0003c0003t0005g0309 a0003c0003t0005g0318 a0003c0003t0005g0319 a0003c0003t0005g0320 a0003c0003t0005g0321 a0003c0003t0005g0322 a0003c0003t0005g0323 a0003c0003t0005g0324 a0003c0003t0016g0308 a0003c0025t0001g0042 a0004c0004t0003g0005 a0004c0004t0003g0007 a0004c0004t0003g0074 a0004c0004t0003g0105 a0004c0004t0003g0141 a0004c0004t0003g0193 a0004c0004t0003g0207 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0232 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0003g0241 a0004c0004t0003g0242 a0004c0004t0003g0243 a0004c0004t0003g0247 a0004c0004t0003g0255 a0004c0004t0003g0256 a0004c0004t0003g0271 a0004c0004t0003g0272 a0004c0004t0003g0280 a0004c0004t0003g0304 a0004c0004t0011g0316 a0004c0006t0003g0033 a0004c0006t0003g0034 a0004c0006t0003g0044 a0004c0006t0003g0045 a0004c0006t0003g0050 a0004c0006t0003g0053 a0004c0006t0003g0054 a0004c0006t0003g0104 a0004c0006t0003g0121 a0004c0006t0003g0122 a0004c0006t0003g0152 a0004c0006t0003g0269 a0004c0006t0011g0330 a0005c0005t0004g0184 a0005c0005t0004g0199 a0005c0005t0004g0213 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0218 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0240 a0005c0005t0004g0262 a0005c0005t0015g0217 a0005c0013t0001g0039 a0005c0013t0001g0049 a0005c0014t0001g0139 a0005c0014t0001g0223 a0006c0007t0004g0111 a0006c0007t0004g0185 a0006c0007t0004g0187 a0006c0007t0004g0188 a0006c0007t0004g0190 a0006c0007t0004g0191 a0006c0007t0004g0192 a0006c0007t0004g0195 a0006c0007t0010g0339 a0006c0007t0010g0340 a0006c0007t0010g0341 a0006c0016t0004g0186 a0006c0016t0004g0189 a0007c0008t0004g0196 a0007c0008t0007g0006 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335 a0007c0008t0007g0336 a0007c0008t0007g0337 a0007c0008t0007g0338 a0009c0018t0001g0102 a0015c0030t0001g0260 a0021c0023t0001g0211 a0022c0024t0001g0303 a0023c0026t0001g0070 a0024c0027t0001g0227 a0025c0029t0014g0197 a0026c0019t0001g0204	225	348	0.6466	0	c.249 others(6): Show c.2498-5G>A		ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	20/38					chr17	TogoVar
ABCA10_chr17_69143007_69233824	69193810	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG03098.hp1 HG03516.hp2 HG01891.hp1 HG03098.hp1 HG03516.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0135 a0010c0010t0006g0140 a0010c0010t0006g0194 a0010c0010t0006g0135 a0010c0010t0006g0140 a0010c0010t0006g0194	3	348	0.0086	0	c.152 others(6): Show c.1521+4C>T		ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	13/38					chr17	TogoVar
ABCA10_chr17_69143007_69233824	69214851	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(81): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00733.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01952.hp1 HG01978.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02698.hp1 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18942.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp2 NA18988.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0023 a0024 a0002 a0023 a0024	a0002c0002 a0002c0015 a0023c0026 others(1): Show a0002c0002 a0002c0015 a0023c0026 a0024c0027	a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 others(2): Show a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 a0023c0026t0001 a0024c0027t0001	a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0014 others(79): Show a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0183 a0002c0002t0001g0202 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0246 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0005g0312 a0002c0002t0005g0313 a0002c0002t0005g0314 a0002c0002t0005g0315 a0002c0015t0001g0003 a0023c0026t0001g0070 a0024c0027t0001g0227	84	348	0.2414	0	c.859 others(3): Show c.859A>G	p.Ile others(6): Show p.Ile287Val	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/39	1415/6008	859/4632	287/1543		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69216004	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG03098.hp1 HG03516.hp2 HG01891.hp1 HG03098.hp1 HG03516.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0135 a0010c0010t0006g0140 a0010c0010t0006g0194 a0010c0010t0006g0135 a0010c0010t0006g0140 a0010c0010t0006g0194	3	348	0.0086	0	c.673 others(5): Show c.673-4T>A		ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	7/38					chr17	TogoVar
ABCA12_chr2_214926542_215143626	214951083	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01255.hp2 HG01943.hp1 HG01993.hp2 HG01255.hp2 HG01943.hp1 HG01993.hp2	a0007 a0007	a0007c0024 a0007c0034 a0007c0024 a0007c0034	a0007c0024t0005 a0007c0034t0005 a0007c0024t0005 a0007c0034t0005	a0007c0024t0005g0093 a0007c0024t0005g0094 a0007c0034t0005g0169 a0007c0024t0005g0093 a0007c0024t0005g0094 a0007c0034t0005g0169	3	198	0.0152	0	c.664 others(4): Show c.6648G>T	p.Arg others(7): Show p.Arg2216Ser	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/53	7066/9298	6648/7788	2216/2595		chr2	TogoVar
ABCA12_chr2_214926542_215143626	215011647	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01070.hp2 HG01071.hp1 HG01074.hp2 others(86): Show HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18962.hp2 NA18971.hp1 NA18981.hp1 NA18984.hp2 NA19007.hp2 NA19070.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0012 a0014 a0016 a0022	a0001c0005 a0001c0009 a0001c0010 others(34): Show a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0022 a0001c0025 a0001c0040 a0001c0041 a0001c0042 a0001c0051 a0001c0068 a0002c0007 a0002c0008 a0002c0013 a0002c0017 a0002c0027 a0002c0056 a0002c0057 a0002c0058 a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0004c0061 a0005c0062 a0005c0063 a0005c0064 a0007c0024 a0009c0026 a0012c0052 a0014c0038 a0016c0039 a0022c0030	a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 others(59): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0009t0001 a0001c0009t0003 a0001c0009t0008 a0001c0009t0010 a0001c0010t0002 a0001c0010t0003 a0001c0010t0004 a0001c0010t0009 a0001c0011t0001 a0001c0011t0005 a0001c0012t0004 a0001c0012t0014 a0001c0015t0007 a0001c0015t0009 a0001c0016t0002 a0001c0016t0005 a0001c0022t0006 a0001c0022t0019 a0001c0025t0003 a0001c0025t0015 a0001c0040t0008 a0001c0041t0003 a0001c0042t0013 a0001c0051t0004 a0001c0068t0003 a0002c0007t0002 a0002c0007t0003 a0002c0007t0004 a0002c0007t0006 a0002c0007t0017 a0002c0008t0004 a0002c0008t0007 a0002c0013t0003 a0002c0013t0008 a0002c0013t0018 a0002c0017t0009 a0002c0017t0016 a0002c0027t0003 a0002c0056t0004 a0002c0057t0006 a0002c0058t0002 a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0004c0061t0015 a0005c0062t0004 a0005c0063t0003 a0005c0064t0004 a0007c0024t0005 a0009c0026t0003 a0012c0052t0001 a0014c0038t0008 a0016c0039t0012 a0022c0030t0001	a0001c0005t0001g0125 a0001c0005t0001g0145 a0001c0005t0003g0077 others(86): Show a0001c0005t0001g0125 a0001c0005t0001g0145 a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 a0001c0005t0005g0167 a0001c0009t0001g0136 a0001c0009t0003g0157 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0010t0002g0168 a0001c0010t0003g0143 a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0010t0009g0001 a0001c0011t0001g0085 a0001c0011t0001g0087 a0001c0011t0001g0126 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0012t0004g0039 a0001c0012t0004g0065 a0001c0012t0014g0015 a0001c0012t0014g0097 a0001c0015t0007g0009 a0001c0015t0007g0013 a0001c0015t0009g0006 a0001c0016t0002g0086 a0001c0016t0002g0090 a0001c0016t0005g0063 a0001c0022t0006g0112 a0001c0022t0019g0014 a0001c0025t0003g0064 a0001c0025t0015g0182 a0001c0040t0008g0186 a0001c0041t0003g0164 a0001c0042t0013g0045 a0001c0051t0004g0076 a0001c0068t0003g0016 a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0007t0004g0149 a0002c0007t0006g0175 a0002c0007t0006g0176 a0002c0007t0017g0012 a0002c0008t0004g0021 a0002c0008t0007g0003 a0002c0008t0007g0005 a0002c0008t0007g0008 a0002c0008t0007g0010 a0002c0008t0007g0011 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0013t0008g0190 a0002c0013t0018g0002 a0002c0017t0009g0007 a0002c0017t0016g0179 a0002c0017t0016g0180 a0002c0027t0003g0073 a0002c0027t0003g0074 a0002c0056t0004g0020 a0002c0057t0006g0177 a0002c0058t0002g0072 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0103 a0003c0066t0004g0104 a0003c0067t0025g0183 a0004c0061t0015g0181 a0005c0062t0004g0078 a0005c0063t0003g0079 a0005c0064t0004g0070 a0007c0024t0005g0093 a0007c0024t0005g0094 a0009c0026t0003g0053 a0009c0026t0003g0056 a0012c0052t0001g0128 a0014c0038t0008g0195 a0016c0039t0012g0185 a0022c0030t0001g0047	89	198	0.4495	0	c.212 others(4): Show c.2124A>G	p.Ala others(6): Show p.Ala708Ala	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	17/53	2542/9298	2124/7788	708/2595		chr2	TogoVar
ABCA12_chr2_214926542_215143626	215026946	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0160 a0001c0004t0001g0160	1	198	0.0051	0	c.106 others(6): Show c.1062-8T>A		ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	9/52					chr2	TogoVar
ABCA13_chr7_48166458_48652497	48227245	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01975.hp1 HG02083.hp2 others(8): Show HG01167.hp2 HG01975.hp1 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02615.hp2 HG02897.hp2 HG03669.hp2 NA18906.hp1 NA20905.hp1 NA20905.hp2	a0001 a0008 a0009 others(8): Show a0001 a0008 a0009 a0010 a0020 a0029 a0039 a0040 a0041 a0073 a0087	a0001c0001 a0008c0013 a0009c0107 others(8): Show a0001c0001 a0008c0013 a0009c0107 a0010c0033 a0020c0109 a0029c0014 a0039c0110 a0040c0111 a0041c0112 a0073c0078 a0087c0039	a0001c0001t0006 a0008c0013t0005 a0009c0107t0001 others(8): Show a0001c0001t0006 a0008c0013t0005 a0009c0107t0001 a0010c0033t0003 a0020c0109t0001 a0029c0014t0005 a0039c0110t0007 a0040c0111t0006 a0041c0112t0011 a0073c0078t0003 a0087c0039t0001	a0001c0001t0006g0178 a0008c0013t0005g0045 a0009c0107t0001g0112 others(8): Show a0001c0001t0006g0178 a0008c0013t0005g0045 a0009c0107t0001g0112 a0010c0033t0003g0071 a0020c0109t0001g0120 a0029c0014t0005g0119 a0039c0110t0007g0126 a0040c0111t0006g0031 a0041c0112t0011g0114 a0073c0078t0003g0170 a0087c0039t0001g0003	11	178	0.0618	1	c.469 others(6): Show c.469-9dupT		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	5/61				INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48278070	G G	GTA GTA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01070.hp2 HG01123.hp1 others(12): Show HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01981.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02976.hp2 HG03139.hp1 HG03492.hp2 NA18942.hp1 NA18991.hp2 NA19011.hp2 NA19060.hp2	a0001 a0003 a0028 others(3): Show a0001 a0003 a0028 a0029 a0085 a0087	a0001c0001 a0003c0003 a0003c0004 others(4): Show a0001c0001 a0003c0003 a0003c0004 a0028c0015 a0029c0014 a0085c0060 a0087c0039	a0001c0001t0001 a0003c0003t0004 a0003c0004t0001 others(7): Show a0001c0001t0001 a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0028c0015t0004 a0029c0014t0005 a0029c0014t0010 a0085c0060t0001 a0087c0039t0001	a0001c0001t0001g0042 a0003c0003t0004g0028 a0003c0003t0004g0029 others(12): Show a0001c0001t0001g0042 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0001g0033 a0003c0004t0002g0032 a0003c0004t0002g0035 a0003c0004t0004g0030 a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0005g0119 a0029c0014t0010g0174 a0085c0060t0001g0100 a0087c0039t0001g0003	15	178	0.0843	2	c.690 others(15): Show c.6900-8_6900-7dupAT		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/61				INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48278070	G G	GTATATA GTATATA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	6	c.690 others(20): Show c.6900-12_6900-7dupATATAT		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/61				INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48278086	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG00738.hp2 HG01123.hp2 others(38): Show HG00735.hp1 HG00738.hp2 HG01123.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG02055.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG03834.hp1 NA18906.hp2 NA18979.hp2 NA19043.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0004 a0013 a0015 others(24): Show a0004 a0013 a0015 a0022 a0024 a0025 a0026 a0045 a0049 a0050 a0051 a0061 a0062 a0064 a0065 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0086	a0004c0008 a0004c0009 a0004c0079 others(28): Show a0004c0008 a0004c0009 a0004c0079 a0013c0006 a0015c0025 a0015c0076 a0022c0020 a0024c0027 a0025c0085 a0025c0089 a0026c0026 a0045c0056 a0049c0055 a0050c0054 a0051c0053 a0061c0074 a0062c0075 a0064c0073 a0065c0091 a0073c0078 a0074c0080 a0075c0081 a0076c0083 a0077c0082 a0078c0084 a0079c0087 a0080c0090 a0081c0086 a0082c0088 a0083c0077 a0086c0059	a0004c0008t0001 a0004c0008t0004 a0004c0008t0005 others(33): Show a0004c0008t0001 a0004c0008t0004 a0004c0008t0005 a0004c0009t0001 a0004c0009t0002 a0004c0079t0006 a0013c0006t0001 a0015c0025t0003 a0015c0076t0001 a0022c0020t0001 a0022c0020t0005 a0024c0027t0001 a0024c0027t0006 a0025c0085t0004 a0025c0089t0012 a0026c0026t0001 a0045c0056t0002 a0049c0055t0003 a0050c0054t0002 a0051c0053t0004 a0061c0074t0001 a0062c0075t0005 a0064c0073t0005 a0065c0091t0001 a0073c0078t0003 a0074c0080t0013 a0075c0081t0001 a0076c0083t0003 a0077c0082t0005 a0078c0084t0002 a0079c0087t0002 a0080c0090t0005 a0081c0086t0009 a0082c0088t0005 a0083c0077t0003 a0086c0059t0003	a0004c0008t0001g0149 a0004c0008t0004g0167 a0004c0008t0005g0169 others(38): Show a0004c0008t0001g0149 a0004c0008t0004g0167 a0004c0008t0005g0169 a0004c0009t0001g0116 a0004c0009t0002g0151 a0004c0009t0002g0166 a0004c0079t0006g0147 a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0015c0025t0003g0024 a0015c0025t0003g0025 a0015c0076t0001g0021 a0022c0020t0001g0007 a0022c0020t0005g0123 a0024c0027t0001g0161 a0024c0027t0006g0162 a0025c0085t0004g0008 a0025c0089t0012g0154 a0026c0026t0001g0053 a0026c0026t0001g0080 a0045c0056t0002g0019 a0049c0055t0003g0125 a0050c0054t0002g0015 a0051c0053t0004g0122 a0061c0074t0001g0022 a0062c0075t0005g0023 a0064c0073t0005g0047 a0065c0091t0001g0109 a0073c0078t0003g0170 a0074c0080t0013g0158 a0075c0081t0001g0148 a0076c0083t0003g0145 a0077c0082t0005g0146 a0078c0084t0002g0076 a0079c0087t0002g0153 a0080c0090t0005g0104 a0081c0086t0009g0160 a0082c0088t0005g0152 a0083c0077t0003g0046 a0086c0059t0003g0172	41	178	0.2303	0	c.690 others(6): Show c.6900-8A>T		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/61					chr7	TogoVar
ABCA13_chr7_48166458_48652497	48352125	GTTTGAGC others(10142): Show GTTTGAGCCACTCCCTACAGTGTGGTAATGCTTCGTTTTTCCTTTTCTGC CACTAGGTATCATTTTCAGCAATTCCTTATTCGACAAGAACTTCAGATCA GAGTCTGTCAAACTGCCACCCCATGTCTCATACACAATCCGGACCAATGT GTTATACAGCGTGCGAACAGATGTGGTAAAAAACCCTTCTTGGAAGTTCC ACCCTCAGAATCTACCAGCTGATGGGTTCAAATATAACTACGTCTTTGCC CCACTGCAAGACATGATCGAAAGAGCCATCATTTTGGTGCAGACTGGGCA GGAAGCCCTGGAACCAGCAGCACAGACTCAGGCGGCCCCTTACCCCTGCC ATACCAGCGACCTGTGAGTAGCCTGGGGCAGGAGCCACCGACAGTGAGAA GGGCCTTGCATTTGTCTAGCTGAGGAGAGAAAACTCAGTTTTTCTATGGT TATTTCAAAAAGCACTGTTAAAAAAGTTCACCCCCCACTTTTTAATTTCG TAAGGTTCATTTTTTTTATATGCTTGTACTCTTCAGGTAGAAGAAATATA ATGGTTGAGATAATACAATCAAGTGAAGTTTTAAATTTGACATCAGGCAT CATCTATAGTTTTAAATACACTTAAAATAAATTTGATGAATAACATTCAC AAGGGCTGTGCATGTCCAACAAAAGATTCCACTTACCTAACCTTGGGAAA ACTGAGGGAGGTTATTTTCTCTGCAGTGCAAATCCTTAGATATAGGCTGT ATACTGGACAGGGTGGTGAAGGATTCCATACAGGCCTTGACCATGGCTTG GGTACCCATGAAGTAATATGAGAACATTTAGGAGTTTGATTGTGTAATTT GGCTGCTGACATCTATAGGAAGAGGGGAAGCTCAGTGAAGGGCTGGAGCA GCTGGACAAGAGGACTTGGAGGGGACATCATGGAGGCATTAAAACAGCCA TCAGGGAGGCCAGGCAGGGGATGTTTGCAGAGAGGACGGGAGACTATGGT CGGACTGGGGCTCAGTGAACCTGAGGGTGAGCTTGGACACCTTGGCAGGT TCAGACAATGAACAGACTTCAAAGCTCACCAAAGCGGGGTGAGCCGTATT GCTGTGGGCTGTGGGGCTCAGCCTGGATTTCTTACTTTCCTCATGGTGCA TACTGTTCTCATAAGCATTCTGCTCCCACAGCTGGCCTGGCTCTGGATAA TGTAGGTCATTCATTTGCAATCCCTGCATGCTGGCTCTGATGCAGGGCCT CAGGAAGGTACCACCTTCCTACCCTCTCTCAAAAGCACACTAGGAAGTAA GTGGCTGAACATGAGGCTACTGAAGGGACCGGTTTGCGTGTTCTCTTAGT TATGAGAACAGGGACAAGTACTCATCCTTCATCGAAACACTGCCAGTAAC AACTCATGGCACCTCCCACCCCTGACTGGGGCAGAGCCATGGACCACCAA GCAGAAGTCAGGACTGCCTCTCCAGGTGACTGGGCGACACACACGTGAGG ATAGGTGACTTGATGTCTTGACCCCTCCTTCCTGTCTAGTGATAGGCTGC ATACATAATAGCACATCCACACATTTTTTATGAAAATGCTGGTTGTACAG GAAGGACTTTCCCACAGTGGGAGGATAAAAGGCTGAAGACCACCTGATTG AACTCATCTTGGGATAGCCTAGTGTGGTGCGGTGAACAAAAGGTCAGGAA GAAAGAGACTAAGGCGACATTTTCACTCAGGGGCTGCCTTGTTAGGCAGA CTGTTAGTAAGCCTCTTAACTTCTTTCTTTGTAAAATGATAGCTTTTCTT TCTTTTCAAAGTGATGATATTTTTGGCTATGAACATTTTCAACCTGTGAT TTTCTGCTCCTAAAGCATGTTTCTTGGAGGTGATAGCAGCAGGAGCAGAA CCGAAGAAAAGTGCTGTTGTTGGCTAGTTGTCATGCACAGACACTTCATA CCCAGTGCAAACACCTGAGAGCTCTGAGAATTAGTGATCTGTGTTAGATA CTGGGAGAAGCCGAAGTTTTATTATGCTCATTTTCTAAAGGCAAACCTGA AATCTATTGCATTCTGACAATCTCCTTCTAGCTCCAAAGTATGCTATGAT CTCCACCCATGAAAGAGCGGGGTTGTGCTTACGTGGATGGGAACATGACA ATTCCCTCTGCTCCGGTTCACAGGAGGAGACTGGGGGTTTACTTTGTCCA CTCTGACATAGGATATTTCCCAAGAAGGCACGATGGGAAGAACAGCATAC ACTCCTACAAATGTATTGATGGAAATCCAGAAATGGCCTGAGTAATCAGT TTTCAATTCCTACTGATCATAGTGTATGGCTAACAGACATTGCAAGAGAG CTAGAAAGGAGGAATTGAGGGACATGGATGGAGACATATTTTTTCACCCC TTGAAGATAAATTCTGATGTATGAGAAACATTCCAGCCTAAAACGTTGGA ATGAGTGGAATACCCAGGTATGATTCTGATCTCATGGAATTACCTCTCTT ATTCTACTACTGGGATACAGCAATATAACTCCTCAGAAGTATTGCTTTAT TTCTTTGAGAAAGATGAAGAAGTATTTTAATTCTCTGAAATATTTAAATC TTTGAGATTTCTCACTGTGCTATATCCATCTTTTATCTCTTGTTTCGAAG TCTCCCTTTCTTGAGGGCTTAGAGTACCTGCAGTGATTGAAACACAGTCT GAGATCTCGAAAGAACTCAGTCACTTGAGTAAAAATCCTAAAGCACAGTT TGTACTGTAGACAATGTTTGTTAAAATTTTTTTAGCAGTTTCCTCCTGCT TACTGAATGAGCTACATATTCATTAATTTATGAATTTATTCAATGACTTT TATGTACTATTTGTCAGTCTCTAGACTGAATAAGTAAAGAAAATAAGTAA ATCAGTAAAGAAAATAGGTGAATCAGTAAAGAAAATAGGTAAAAATCCCT GCTCTTGTGAGACTTCCAGTCCAGGGAAGCAGAGGTGCCACAAATACAAT TAAGAAGACAATTGCATTGAATGATAGGAAGCAGGAAGTGCCGTGGAGCT GGGAAATAGGATGAGCAGGGTCAGGGACACTAGGAGGGGAAGATGGAATT GTTAATGTGGATGGGGTAGACCCTATCAGGAAGGTAGCATTTTAACAAAG ACTTGACGGGATGCAGAAGCACAAGGGGAAGTGTGTTCTAGGGCAGAGGA ACCCCCCATGCAAAGGCCCTGTGGTAGGAGTGGCCTAGGGTATGTGTGAA GAGTCACCAGAGCAGAGTGCACAAGGGCAAGAGGGTGGGAGATGAAGTCA AAGAGCTGATTGTAGATTGCATGGTTGCAGGTGACTGGAGTGGTATTAAA AGACTGCTGGAGAGTTTCGAGCAGGAGTGATGTCATCATCTGACTTATAC TGTAAAAGTCTTGCTCACGCTGTTGGGTGGAAAAGAGCTTGTAGGGGTAT GTGTGGGACAGAGAAATCATTTAGAAGGCTGTTGTAATAACCCAGGTGAG AGATGATGGTGGCTTGGTCCAGTGTGGTAGCAGAGAAGCTGGTAAAAAGT GGTCTGATTCTTGGTTGCATTCAGGAAGTAGAGGCAACAGAATTGCCAAA AGATTTGATGAGGGCGTGATAGAGAGACATCGAGGAAGATTCCCCTATTT TGGTCCAAGTAACTGGATTGCTGGAATTATCTCTAACTATAATAGAAAAA CTGTGGGTAGAGGTTTGGAGGATAAGGATAGAAACTCAGCTTTGGACATG TCTAGTAGGCAGATTTGTTCAGGAGGCTGGGACAATGTATGGATCTATTA ATTTAGGAGTCTCCCCGATTTTGATGGCATTTAGAACTCTAAGATATTAC CATGGGAAGGAGTATAGATAGAAAAATAGAGAGGGCCGAGACCAAATGTG GGGCCCCTCCCATGAAGAGGTAAATGAGAAGAGGAGATTGAGAAAGTATC ATTGAGGCAGGAGGAAAACCTACAGAGTGTGGAATCCTGGAGGTCAAGCT GAGCAAAAGACTCCAGGAAGAGGAGTGATCAAGTGTGTCATATGTGGCTC ATGGGTGAAATAAGGTAAAGACAGATAATCGACCATTGGATTTACACCAT CCAGGACTTCATAGAGAGTAGCTTCCATGATGTGGTGAGAATGACGGCCA AATTAGAGTGGACAGAATGGAGACTTGGAGGGGTAGAATTGGAGAGTGAA CTCAGACAGCTCTCAATGGGAAGAAATGGGAGGTGACTTCTTCTTCTTCT TTTGGAAGAAGTCTTTTTTTTTTTTTTAAATATAAGATGCTACCTGGGGA ATAGTCCAGTAAGATGGGAAAATTGGTAGTGTATAAACGGGGGGGACAGC TGTGTCCTGAATTAGTCAAGGGGAAGAGACCTCAACAAGTGGAGAGACCT ACTATAGGTGGGAACATGGCAATTCACCTGTGGTAACAAAACCTGTTTAA CTCTATTTAACTAAAAATTTTCCACTTTTCTTGCACACAGATCTCTCTCT CTCCTCCTTTTATTTTTCATGTAGTATCTACCAGCAGCTCATGGAACTAA TGTCCTGAAAGGCATGCATTGGAAAATGTTGCTGGAGACTGTAGAGATGG ATAGGCAGCAGCAGTTTTTGAAATTGCATGTTCCTATCAACCCCCTGATT CATAGGCAGTTATCATAGAATAATTTTATGATTGGAACTGTAGTGTGTAC TTCATGAATATAAAGGAATTCAAATGTTAATGTGTTGCTTCAAAGAATAA GCCAACTTAATAAACAGGTTTTCAGAAAACAAAAACCACAACAATATCCT GGGATTGTTTTATATGCACAAAGAATATTTATTTGAAAGGTCACCTGTTA TTTCCTCTATTGCTTTTTGGCTGCTTCAATTCCCACCACCCTGGGGTGGG TTCAAGAGAAGGAGAAATGGAGCGTGCTGGGTCAGGCTGAGTGATGGCTC CCGTGAGGCGTTGCATCTGGACTTTGATGTGTCTTGGGCAAAGTGGAGAG TGAAGGGTTGACAGCCACTCATGCTTGAAATGTTGAATTCCTGCTTAAAA AAAAATCAGCTTGATCCACAACAGACCAGTGAGAGGACCTCTCATTTTAT TTATTTTGATTGTTTCTCTTCCTTGGGCTCTACTTCAGGTAACTTTATTA AACACCTCTCTCTTCCATTTAGTCAATAGTCATTGTTCTCAGCAGAAATT CCCATTCTTGATGACCCTCAGCGCTCAGAGCTGCTGGAAGCCCCCTCTGT TGCCCGCAGGCTCTGTCCTGTCCCACCAACGCAGGTAATTTGTTGGTGAT ACCAACTGTAGTGGGAAGGAGAAGAAAAACCCTCATTAAATTTTACAATT CTTCACTTTCTCAAGCCCCACACAGCTCTTACAAACTTATCTCCTTGCTG GGCAGAGGAGGATGGTTTCTCATTAAAACCTCAGCAAATCGTTTCTCCAA TTTGTCTATGTTCTTTCCCTCAACAGCAGCAAAGTAATCTCTTAAAATTG TATCACATTTAAAAAAATCATCTCACTTATTCTCTAAAAACCTTAAAAGT ACAGTGGAAGAAATTGAGACGCTGATAGGGTAAGTTATTTCCCCCAAGAT CTCACAGCATCTTAATACCCCTCACTCCCCAAATAAACTATTAATTGCCA CTTGCTACTTTTAAGCACTTTGTGCAGGATGCTTGGTCACTTGGCTGCCA TTTCACTCCATTGTATTTGAAAGTCTGGTATGTTTTCGGCCGGGTGTGGT GGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCA CAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCGGTTT CTACTCAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGTCTGTAATC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCA AAGGTTGTAGTGAGCTGAGATTGCACCATTGCACTCCAGCCTGGGTGACA AGAGCAAACTCCGTCTCAAAGAAAAGAAAAGAAAAAAAAGAAAGGACAGG ACAGGACAGGACAGGACAGGACAGGAAAGGAAAGGAAAAAGGAAAGGAAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGACAATGC CTGCCTGGCATGTTTTCTTATATCCTAGCCAGAGCTCAGATTTGAGCAGT AGTTCTTAACCTTGGTTGGTGGGAGTTTGGAAGTGTATGGGGTGTTTTGA TGGTAACAGTGGGGACCAGTGTATGTTTAGTGCCTAAGGGCCAGTGGTGA CAATTGTTGTGTGATAAATGACACTGTAGTGTGCAATGAAGAATAGTCCT AGCCAAATTCCAAAACACCCTCATTTAGATCCACTGTTTGCTCTGCCTCT GGTAAATTATTTCAAGGGCCTTCATCATTCACTCATATAGTTATTCCTCT ATTCATCTATGTAGAAACATTTTGTTTTCATATTCACTGTATGACACACA TTCTATGCTGGGATGGATGCAGAGATCAGCACTATGCAGTTCTTGAGGTC TAGAAACTCACTGCTTAATGCAGTAGTTAGTGTACATTCATAACTAATAA GGGGCGAAAAGGGAGATACAGATACTGTAAAAGTGGCAGCACTGGGTTGC TCACAATTGATTTCATGCCTTCCTCTACCTAGTAAAATATAGGAGAATTT CTTGGTAGAATCTGTATGACCTGAGAGTCTGAATTAAGGTCTCAAAGTCT CCTTCTTTAGACATATTGGATCTTGACAGTGCATCTCACCTTCTAAGTTT ATCCGATCTCTTTCGAGCTTCCTGGATCCCTTTAGAGTCTCAGACTTGAC ATGATGACAGAACTGGGATGAAAAAACTGCATTTGGGTGCCAGCTTTGAC ACTTGCTGGTTCGCAGGACCTTGGGCCAGTTTTGCGCCAGCTTTGGGTGT CGGTCTCCTCAGCTCATACGGGGTATTAACTGCTGTCTGCCCAGTGCATT GGCTTGTAGTGCGCAGTGAATTATCCTGCTTGAGGAGACCTTGAGACTTG TGAGGGGCAACGCCAGGCACTGTGAATGGGTGGGATGCTCTGAGTGGCAG CCCACTCCATTCTTGGGCAGCTTCAAATCTGAGAAAGTTCCTCCACCTAC TGATGCAGAAGGTCAATCTGCATGACTCTGGCAATGGCTGAGTCAGGAAC ACTAGAGTCTTAAATGCCCCTTACTTCACCTTCCCTGACCTCCACTCACC TCCAATTCACAAATCACGTCAGACTTCAGCTGGCTGTGTTGTGCGGAAGG CAGCGGAGACAGAGCTAGCAAGTGACAGGGGCAACATGAGTGTGCCTCTG GTTCCATGAAAAGGAAAGGGAGGATAAAGGGAGAGAGAGAAAGTGGAGGC CAAATGCACTGGTCCTTCTCTTCAGCAGTTGCCCCCAGCTATGTCCTGTC TCCCCATGGTTGATGTGGACTGGTCCTGGGCAGTAGTGGTGATGGAGGCC GGTGGAGAGGGGCAGAAGCAGGGAAGGGCAGAGGCCGGGCTGATGTGAGA GGTGGTGGCTGGAAATTTGCCTCCTCCCTGCACTTGCCTCAAAGTCCTAC ATCCTGAGAAAACAAAACAAAAAACAGACAACAACAGCAACAAAAACCAG CTGATTTCTCAGGGTGGTTCTTTCTATAGTAAGACTTTGGTCCAACACGC CCATGACTTTTCTGTCATTGCACTCACTGATAGTGCTGACAGAGGCAAGT AACAGATCAAATACCAGGAGCAAGGCTTACTAAAATGGAAACCAAAAAGT CCACCTGCAGAAAAAGCAATGGTGACAATTAGTGTTTGTGAAGATCAGAG TATCCCTTTAGAAAGGCTTAAAGAAGTAAGAGAGTTTAATTTCCTTTTTT GTTTTTACTTTTATTTTATTTTATTTTTTATTATACTTTAGGTTCCAGGG TACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGT TGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAA TGCTATCCCTCCCCCCTCCCCCACCCCATGACAGGCCCCGGTGTGTGATG TCCCCACTCTGTGTCCAAGTGTTCTCATTGTTCAGTTCCCACCTATGAGT GAGGACATGGAGTGTTTGGTTTTCTGTCCGTGTGATAGTTTGCTCAGAAT GATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACATGAGAGAGTTTA ATTTCCTAATGGTATAATTTATAGATAGTTCTTTGATTTGGGTTCCAGAG AAGGGGAAACATACAGAGAATATTCTCGATTCTTAGTTTGATTCATGCTC TCCTGATAAGAGGAAAATCCTATTTCTGAGGTTACTGAGACATCCCTGAC CTTTGTGTGTATGTTTTTTATTTTTAGTTCTATAAACAAGTGATATTCAA GAGTGAAGAAAATAGAGAAAATAATTCACACTTAATATCCTGTTCCAAAT AGACACTTATTTGTTTATTTATGTTTTCTTTTGGGATGAGTCCCTCATTC TTTGTCGTTGTGATTCATGTTTTACAAACTAGAAATCGCAAAGTCTTGCC AAGAGTTAGCCTGAAAGTTTTTGTGCTACATACTCATTTGGGAACTATTT ACGCAGTACTTATTATGTGTCATGCACTGTAATCGCATGACATATGTAGT AGGGAAAGATGTAGTCCTGCCTTGAGGAAGCTTGGAGAGCAGGGATTGTT ATGACCGTATTAAGATGAGACAACCAGCCTGGACAGCATAGCAAGACCCC ATCTCTACAGAAAATAAACAAAATTAGCTGGGCGTTGTGGTGTGTTCTGT AGTCCCAGCTAATTGGGAGGGTGAGAGGGGAGAATTGCTTGAGCCCAGGA GGCTGAGGCTACAGTGAGCCCAGATCATGCCACTGTACTCCAGCCTGGGC AACAGAGTGAGACCCTGTTTGGAAAAAAAAAAAAAAGACAAGAAAACTAC GAATGACTTAAATCTGCTCTGCTGTGACCCCGCTCTAGTGGAGACTGCAA GGGACGAGAATCACAGCACCTCTTTAAAACTTGGTACTCAGTGCAGTTGT TGTTGGTGATACATAATACATAATGCTTCAACTTTAAATATGAACCACTT CCAATTATTAAGATCCTAGAAGAGAGAAATTAAAGTCAAAAAATGAAACA ATTTTCTTCTCTCCCTTTCTCCCTACTCATCCTCCTTCATTCCTCTCTCG GTGTGGTTACTCCTCTTTTAACATGCTTTTTCCTTATTTTAAAAATTCAT GATGTGCAAGTTATTTCATTCTTTTCTTATTTGACTTCTGTTTTCTCAAA GAACCCTATTTGGACTTCATCAATTCTCTCTTTTGTCTCATCTAACTTTT TCTGCTTTTATTTTTATTACTTCCTTACTTTTCTGTATCTTCAATATATT CTTTTATAATTTGAGACTAAAGTTTAATTCATTATTTTTAGTTTTTTTCT TAAATATTTGTAGTTAAATATATTATGTAGGTAATATATTTAACATAAGG TAATGACTGTTCTTTCAACTCCTACCTTATATCCCATAGATCTCATATGT AGCTAACAATTTATTGTTTTCTAGATGCATGCAGTACAGGTTTCTATTTT CTCTTTGACCCAAGAGCTGTTTAAATAAAGCTTCTTTTAATTTCCAGGTG AAAATTCTCAAGAATTTTAAATATATGAAAAACTATGTTTACACAGCTTA CTTGTAATAAGAAACATACAAATTAAATCTGCTTTGTAATAGTATGTTTT TACATATCAGAGGGACAAAATACAAAAATTGCATTATATACTAAATTGCC AAGTTCTGTTGCTAAATCTTAATTTCTGAATTGCAGTCAAAATATGATTC TTATTATTTCTGTTTTGGTATCAAGTAATATATAACCCACTTTTGTGAAT GATTTGTAGACACTTGAAAAGAATTTCTAATTCCCTATTTTAGGGCAGAG AATTTGGTCTGTGTTATTTTTGTTATGTAGGATTTTTCTATCCTTAATTT ATGTCGTCTTGATCTGTCTTAGACTGGGATAGGTAAATTATACTCCCTTA TTACTTGGTTGTCCTTCTCTCTTTTTCCTGTGGAGTTTGGCTTTTGGATA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02055.hp1 HG02922.hp1 HG02965.hp1 HG02055.hp1 HG02922.hp1 HG02965.hp1	a0013 a0013	a0013c0006 a0013c0006	a0013c0006t0001 a0013c0006t0001	a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017	3	178	0.0169	-10149	c.103 others(19): Show c.10382-51_10689-5516del		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/62				INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48367789	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18942.hp2 NA18942.hp2	a0007 a0007	a0007c0101 a0007c0101	a0007c0101t0003 a0007c0101t0003	a0007c0101t0003g0139 a0007c0101t0003g0139	1	178	0.0056	0	c.106 others(7): Show c.10689-5T>C		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61					chr7	TogoVar
ABCA13_chr7_48166458_48652497	48412336	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp2 HG01169.hp1 HG02523.hp2 others(5): Show HG01123.hp2 HG01169.hp1 HG02523.hp2 HG03834.hp1 NA18953.hp2 NA18956.hp2 NA19030.hp1 NA19091.hp1	a0004 a0007 a0009 others(3): Show a0004 a0007 a0009 a0020 a0021 a0026	a0004c0008 a0007c0102 a0009c0012 others(3): Show a0004c0008 a0007c0102 a0009c0012 a0020c0034 a0021c0028 a0026c0026	a0004c0008t0004 a0004c0008t0005 a0007c0102t0001 others(4): Show a0004c0008t0004 a0004c0008t0005 a0007c0102t0001 a0009c0012t0002 a0020c0034t0003 a0021c0028t0003 a0026c0026t0001	a0004c0008t0004g0167 a0004c0008t0005g0169 a0007c0102t0001g0020 others(5): Show a0004c0008t0004g0167 a0004c0008t0005g0169 a0007c0102t0001g0020 a0009c0012t0002g0072 a0020c0034t0003g0117 a0021c0028t0003g0005 a0021c0028t0003g0011 a0026c0026t0001g0053	8	178	0.0449	1	c.122 others(8): Show c.12229-9dupT		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61				INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48427758	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00544.hp1 HG00741.hp1 others(45): Show HG00408.hp1 HG00544.hp1 HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01516.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02145.hp2 HG02258.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18942.hp1 NA18944.hp1 NA18971.hp1 NA18977.hp1 NA18986.hp1 NA18987.hp1 NA18994.hp2 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19074.hp1 NA19083.hp2	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0012 a0014 a0017 a0018 a0020 a0023 a0024 a0025 a0026 a0028 a0030 a0031 a0036 a0048 a0054 a0056 a0069 a0074 a0079 a0084	a0001c0001 a0001c0010 a0002c0002 others(30): Show a0001c0001 a0001c0010 a0002c0002 a0002c0022 a0003c0003 a0003c0004 a0004c0008 a0007c0102 a0008c0013 a0008c0032 a0009c0012 a0012c0016 a0014c0019 a0014c0047 a0017c0096 a0017c0097 a0018c0029 a0020c0034 a0023c0018 a0024c0027 a0025c0085 a0026c0026 a0028c0015 a0030c0042 a0031c0092 a0036c0098 a0048c0041 a0054c0048 a0056c0050 a0069c0066 a0074c0080 a0079c0087 a0084c0061	a0001c0001t0001 a0001c0001t0004 a0001c0010t0001 others(34): Show a0001c0001t0001 a0001c0001t0004 a0001c0010t0001 a0002c0002t0004 a0002c0022t0004 a0003c0003t0004 a0003c0004t0001 a0003c0004t0004 a0004c0008t0004 a0007c0102t0001 a0008c0013t0001 a0008c0013t0002 a0008c0032t0001 a0009c0012t0002 a0012c0016t0001 a0014c0019t0002 a0014c0047t0001 a0017c0096t0001 a0017c0097t0001 a0018c0029t0001 a0020c0034t0003 a0023c0018t0004 a0024c0027t0001 a0024c0027t0006 a0025c0085t0004 a0026c0026t0001 a0028c0015t0004 a0030c0042t0004 a0031c0092t0004 a0036c0098t0001 a0048c0041t0004 a0054c0048t0004 a0056c0050t0004 a0069c0066t0001 a0074c0080t0013 a0079c0087t0002 a0084c0061t0004	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0063 others(45): Show a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0004g0057 a0001c0001t0004g0164 a0001c0010t0001g0066 a0002c0002t0004g0106 a0002c0022t0004g0163 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0001g0033 a0003c0004t0004g0030 a0004c0008t0004g0167 a0007c0102t0001g0020 a0008c0013t0001g0111 a0008c0013t0002g0088 a0008c0032t0001g0079 a0009c0012t0002g0052 a0009c0012t0002g0094 a0012c0016t0001g0087 a0012c0016t0001g0108 a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0047t0001g0155 a0017c0096t0001g0049 a0017c0097t0001g0084 a0018c0029t0001g0134 a0020c0034t0003g0117 a0023c0018t0004g0091 a0024c0027t0001g0161 a0024c0027t0006g0162 a0025c0085t0004g0008 a0026c0026t0001g0053 a0028c0015t0004g0173 a0028c0015t0004g0176 a0030c0042t0004g0073 a0031c0092t0004g0095 a0036c0098t0001g0069 a0048c0041t0004g0039 a0054c0048t0004g0159 a0056c0050t0004g0099 a0069c0066t0001g0143 a0074c0080t0013g0158 a0079c0087t0002g0153 a0084c0061t0004g0013	48	178	0.2697	0	c.124 others(7): Show c.12460-8T>C		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	41/61					chr7	TogoVar
ABCA13_chr7_48166458_48652497	48467045	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00558.hp2 HG00738.hp1 HG00741.hp2 others(55): Show HG00558.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01192.hp1 HG01243.hp1 HG01433.hp1 HG01975.hp1 HG01993.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp2 HG02572.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19062.hp2 NA19074.hp2 NA19083.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1	a0005 a0006 a0007 others(27): Show a0005 a0006 a0007 a0010 a0011 a0014 a0015 a0019 a0021 a0024 a0028 a0034 a0037 a0039 a0042 a0043 a0047 a0049 a0057 a0060 a0065 a0066 a0069 a0073 a0075 a0076 a0078 a0081 a0083 a0086	a0005c0005 a0005c0024 a0006c0007 others(37): Show a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0006c0063 a0007c0011 a0007c0101 a0007c0102 a0010c0031 a0010c0033 a0011c0017 a0011c0044 a0011c0046 a0014c0019 a0014c0047 a0015c0025 a0015c0076 a0019c0030 a0021c0028 a0024c0027 a0028c0015 a0034c0105 a0037c0100 a0039c0110 a0042c0113 a0043c0093 a0047c0040 a0049c0055 a0057c0036 a0060c0070 a0065c0091 a0066c0062 a0069c0066 a0073c0078 a0075c0081 a0076c0083 a0078c0084 a0081c0086 a0083c0077 a0086c0059	a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 others(42): Show a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 a0006c0007t0002 a0006c0007t0003 a0006c0023t0003 a0006c0063t0001 a0007c0011t0003 a0007c0011t0007 a0007c0101t0003 a0007c0102t0001 a0010c0031t0003 a0010c0033t0003 a0011c0017t0002 a0011c0017t0003 a0011c0044t0001 a0011c0046t0002 a0014c0019t0002 a0014c0047t0001 a0015c0025t0003 a0015c0076t0001 a0019c0030t0003 a0021c0028t0003 a0024c0027t0001 a0024c0027t0006 a0028c0015t0004 a0034c0105t0005 a0037c0100t0001 a0039c0110t0007 a0042c0113t0003 a0043c0093t0002 a0047c0040t0001 a0049c0055t0003 a0057c0036t0007 a0060c0070t0003 a0065c0091t0001 a0066c0062t0003 a0069c0066t0001 a0073c0078t0003 a0075c0081t0001 a0076c0083t0003 a0078c0084t0002 a0081c0086t0009 a0083c0077t0003 a0086c0059t0003	a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 others(55): Show a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0005c0024t0001g0018 a0005c0024t0003g0107 a0006c0007t0002g0129 a0006c0007t0003g0121 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0006c0063t0001g0010 a0007c0011t0003g0051 a0007c0011t0003g0130 a0007c0011t0007g0165 a0007c0101t0003g0139 a0007c0102t0001g0020 a0010c0031t0003g0115 a0010c0031t0003g0118 a0010c0033t0003g0060 a0010c0033t0003g0071 a0011c0017t0002g0048 a0011c0017t0003g0067 a0011c0044t0001g0096 a0011c0046t0002g0089 a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0047t0001g0155 a0015c0025t0003g0024 a0015c0025t0003g0025 a0015c0076t0001g0021 a0019c0030t0003g0038 a0019c0030t0003g0068 a0021c0028t0003g0005 a0021c0028t0003g0011 a0024c0027t0001g0161 a0024c0027t0006g0162 a0028c0015t0004g0173 a0028c0015t0004g0176 a0034c0105t0005g0037 a0037c0100t0001g0041 a0039c0110t0007g0126 a0042c0113t0003g0093 a0043c0093t0002g0150 a0047c0040t0001g0009 a0049c0055t0003g0125 a0057c0036t0007g0083 a0060c0070t0003g0014 a0065c0091t0001g0109 a0066c0062t0003g0141 a0069c0066t0001g0143 a0073c0078t0003g0170 a0075c0081t0001g0148 a0076c0083t0003g0145 a0078c0084t0002g0076 a0081c0086t0009g0160 a0083c0077t0003g0046 a0086c0059t0003g0172	58	178	0.3258	0	c.129 others(5): Show c.12905A>G	p.Gln others(7): Show p.Gln4302Arg	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	44/62	12931/17188	12905/15177	4302/5058		chr7	TogoVar
ABCA13_chr7_48166458_48652497	48643400	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG00738.hp1 HG01192.hp1 others(30): Show HG00558.hp2 HG00738.hp1 HG01192.hp1 HG01243.hp1 HG01975.hp1 HG01993.hp2 HG02071.hp1 HG02523.hp2 HG02809.hp2 HG02895.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03669.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18956.hp2 NA18961.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp1 NA19062.hp2 NA19074.hp2 NA19083.hp1 NA19091.hp1 NA20129.hp1	a0002 a0005 a0006 others(15): Show a0002 a0005 a0006 a0007 a0010 a0011 a0015 a0019 a0020 a0021 a0042 a0049 a0060 a0066 a0073 a0076 a0083 a0086	a0002c0002 a0005c0005 a0005c0024 others(19): Show a0002c0002 a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0007c0011 a0007c0101 a0010c0031 a0010c0033 a0011c0017 a0015c0025 a0019c0030 a0020c0034 a0021c0028 a0042c0113 a0049c0055 a0060c0070 a0066c0062 a0073c0078 a0076c0083 a0083c0077 a0086c0059	a0002c0002t0004 a0005c0005t0003 a0005c0024t0003 others(19): Show a0002c0002t0004 a0005c0005t0003 a0005c0024t0003 a0006c0007t0003 a0006c0023t0003 a0007c0011t0003 a0007c0101t0003 a0010c0031t0003 a0010c0033t0003 a0011c0017t0003 a0015c0025t0003 a0019c0030t0003 a0020c0034t0003 a0021c0028t0003 a0042c0113t0003 a0049c0055t0003 a0060c0070t0003 a0066c0062t0003 a0073c0078t0003 a0076c0083t0003 a0083c0077t0003 a0086c0059t0003	a0002c0002t0004g0140 a0005c0005t0003g0090 a0005c0005t0003g0102 others(30): Show a0002c0002t0004g0140 a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0005c0024t0003g0107 a0006c0007t0003g0121 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0007c0011t0003g0051 a0007c0011t0003g0130 a0007c0101t0003g0139 a0010c0031t0003g0115 a0010c0031t0003g0118 a0010c0033t0003g0060 a0010c0033t0003g0071 a0011c0017t0003g0067 a0015c0025t0003g0024 a0015c0025t0003g0025 a0019c0030t0003g0038 a0019c0030t0003g0068 a0020c0034t0003g0117 a0021c0028t0003g0005 a0021c0028t0003g0011 a0042c0113t0003g0093 a0049c0055t0003g0125 a0060c0070t0003g0014 a0066c0062t0003g0141 a0073c0078t0003g0170 a0076c0083t0003g0145 a0083c0077t0003g0046 a0086c0059t0003g0172	33	178	0.1854	0	c.149 others(7): Show c.14943+7C>G		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	60/61					chr7	TogoVar
ABCA13_chr7_48166458_48652497	48644589	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp2 HG02572.hp2 HG02615.hp1 others(13): Show HG01433.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03471.hp2 HG03834.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0004 a0008 others(12): Show a0001 a0004 a0008 a0022 a0027 a0034 a0035 a0062 a0063 a0064 a0071 a0077 a0080 a0082 a0088	a0001c0104 a0004c0008 a0008c0013 others(12): Show a0001c0104 a0004c0008 a0008c0013 a0022c0020 a0027c0021 a0034c0105 a0035c0106 a0062c0075 a0063c0071 a0064c0073 a0071c0038 a0077c0082 a0080c0090 a0082c0088 a0088c0037	a0001c0104t0005 a0004c0008t0005 a0008c0013t0005 others(12): Show a0001c0104t0005 a0004c0008t0005 a0008c0013t0005 a0022c0020t0001 a0027c0021t0008 a0034c0105t0005 a0035c0106t0005 a0062c0075t0005 a0063c0071t0005 a0064c0073t0005 a0071c0038t0005 a0077c0082t0005 a0080c0090t0005 a0082c0088t0005 a0088c0037t0005	a0001c0104t0005g0044 a0004c0008t0005g0169 a0008c0013t0005g0045 others(13): Show a0001c0104t0005g0044 a0004c0008t0005g0169 a0008c0013t0005g0045 a0022c0020t0001g0007 a0027c0021t0008g0056 a0027c0021t0008g0077 a0034c0105t0005g0037 a0035c0106t0005g0006 a0062c0075t0005g0023 a0063c0071t0005g0105 a0064c0073t0005g0047 a0071c0038t0005g0135 a0077c0082t0005g0146 a0080c0090t0005g0104 a0082c0088t0005g0152 a0088c0037t0005g0092	16	178	0.0899	1	c.149 others(8): Show c.14944-9dupT		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	60/61				INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104794512	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00609.hp1 HG00621.hp2 others(77): Show HG00408.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01081.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18949.hp1 NA18949.hp2 NA18960.hp1 NA18962.hp2 NA18967.hp2 NA18970.hp2 NA18979.hp2 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19068.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0002 a0004 a0005 others(14): Show a0002 a0004 a0005 a0007 a0008 a0011 a0012 a0013 a0015 a0017 a0019 a0025 a0027 a0033 a0034 a0035 a0038	a0002c0011 a0002c0024 a0002c0032 others(40): Show a0002c0011 a0002c0024 a0002c0032 a0002c0033 a0002c0037 a0002c0057 a0002c0074 a0002c0078 a0004c0008 a0004c0029 a0004c0042 a0004c0066 a0004c0099 a0004c0113 a0004c0114 a0005c0014 a0005c0026 a0005c0036 a0005c0039 a0005c0052 a0005c0082 a0005c0084 a0007c0003 a0007c0090 a0008c0006 a0008c0048 a0008c0069 a0011c0010 a0011c0055 a0012c0040 a0012c0041 a0012c0093 a0013c0013 a0015c0020 a0015c0061 a0017c0034 a0019c0106 a0025c0083 a0027c0062 a0033c0101 a0034c0103 a0035c0091 a0038c0068	a0002c0011t0004 a0002c0024t0008 a0002c0032t0001 others(58): Show a0002c0011t0004 a0002c0024t0008 a0002c0032t0001 a0002c0033t0002 a0002c0033t0032 a0002c0037t0011 a0002c0057t0001 a0002c0074t0027 a0002c0078t0001 a0004c0008t0006 a0004c0008t0028 a0004c0029t0001 a0004c0029t0005 a0004c0042t0008 a0004c0066t0008 a0004c0099t0001 a0004c0113t0002 a0004c0114t0005 a0005c0014t0003 a0005c0026t0004 a0005c0036t0001 a0005c0039t0017 a0005c0052t0001 a0005c0082t0002 a0005c0084t0014 a0007c0003t0002 a0007c0003t0003 a0007c0003t0004 a0007c0003t0009 a0007c0003t0011 a0007c0003t0014 a0007c0003t0016 a0007c0003t0020 a0007c0003t0033 a0007c0003t0035 a0007c0090t0007 a0008c0006t0005 a0008c0006t0006 a0008c0006t0014 a0008c0006t0022 a0008c0048t0030 a0008c0069t0008 a0011c0010t0005 a0011c0010t0037 a0011c0055t0001 a0012c0040t0040 a0012c0041t0001 a0012c0041t0002 a0012c0093t0001 a0013c0013t0002 a0015c0020t0001 a0015c0020t0004 a0015c0061t0001 a0017c0034t0001 a0019c0106t0001 a0025c0083t0001 a0027c0062t0001 a0033c0101t0001 a0034c0103t0007 a0035c0091t0008 a0038c0068t0044	a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0024t0008g0003 others(77): Show a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0109 a0002c0032t0001g0025 a0002c0032t0001g0317 a0002c0033t0002g0301 a0002c0033t0032g0024 a0002c0037t0011g0116 a0002c0057t0001g0148 a0002c0074t0027g0290 a0002c0078t0001g0216 a0004c0008t0006g0202 a0004c0008t0028g0199 a0004c0029t0001g0099 a0004c0029t0005g0023 a0004c0029t0005g0162 a0004c0042t0008g0083 a0004c0042t0008g0158 a0004c0066t0008g0007 a0004c0099t0001g0110 a0004c0113t0002g0159 a0004c0114t0005g0304 a0005c0014t0003g0173 a0005c0014t0003g0243 a0005c0026t0004g0042 a0005c0036t0001g0091 a0005c0039t0017g0018 a0005c0039t0017g0019 a0005c0052t0001g0281 a0005c0082t0002g0282 a0005c0084t0014g0215 a0007c0003t0002g0037 a0007c0003t0002g0038 a0007c0003t0003g0229 a0007c0003t0004g0027 a0007c0003t0004g0048 a0007c0003t0004g0170 a0007c0003t0009g0156 a0007c0003t0009g0260 a0007c0003t0011g0072 a0007c0003t0014g0030 a0007c0003t0016g0029 a0007c0003t0020g0179 a0007c0003t0033g0035 a0007c0003t0035g0061 a0007c0090t0007g0046 a0008c0006t0005g0063 a0008c0006t0006g0057 a0008c0006t0014g0221 a0008c0006t0022g0135 a0008c0048t0030g0022 a0008c0069t0008g0096 a0011c0010t0005g0097 a0011c0010t0005g0169 a0011c0010t0005g0255 a0011c0010t0005g0258 a0011c0010t0005g0286 a0011c0010t0005g0287 a0011c0010t0037g0181 a0011c0055t0001g0259 a0012c0040t0040g0055 a0012c0041t0001g0274 a0012c0041t0002g0230 a0012c0093t0001g0108 a0013c0013t0002g0262 a0015c0020t0001g0006 a0015c0020t0001g0160 a0015c0020t0004g0005 a0015c0061t0001g0080 a0017c0034t0001g0153 a0017c0034t0001g0300 a0019c0106t0001g0094 a0025c0083t0001g0313 a0027c0062t0001g0310 a0033c0101t0001g0308 a0034c0103t0007g0240 a0035c0091t0008g0161 a0038c0068t0044g0272	80	318	0.2516	1	c.538 others(7): Show c.5383-3dupT		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	39/49					chr9	TogoVar
ABCA1_chr9_104776006_104933155	104794512	T T	TAA TAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp1 HG01106.hp1 HG01192.hp2 others(21): Show HG01099.hp1 HG01106.hp1 HG01192.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp2 NA20129.hp2	a0002 a0004 a0005 others(3): Show a0002 a0004 a0005 a0008 a0012 a0029	a0002c0015 a0002c0017 a0002c0025 others(14): Show a0002c0015 a0002c0017 a0002c0025 a0002c0058 a0002c0059 a0002c0075 a0002c0081 a0002c0085 a0004c0044 a0004c0064 a0004c0096 a0005c0022 a0005c0051 a0008c0006 a0012c0065 a0012c0102 a0029c0110	a0002c0015t0002 a0002c0015t0004 a0002c0015t0013 others(19): Show a0002c0015t0002 a0002c0015t0004 a0002c0015t0013 a0002c0015t0031 a0002c0017t0002 a0002c0025t0007 a0002c0058t0007 a0002c0059t0001 a0002c0075t0027 a0002c0081t0013 a0002c0085t0008 a0004c0044t0007 a0004c0044t0013 a0004c0064t0007 a0004c0096t0007 a0005c0022t0002 a0005c0022t0021 a0005c0051t0019 a0008c0006t0015 a0012c0065t0007 a0012c0102t0007 a0029c0110t0002	a0002c0015t0002g0315 a0002c0015t0004g0004 a0002c0015t0013g0305 others(21): Show a0002c0015t0002g0315 a0002c0015t0004g0004 a0002c0015t0013g0305 a0002c0015t0013g0306 a0002c0015t0031g0084 a0002c0017t0002g0271 a0002c0025t0007g0237 a0002c0058t0007g0143 a0002c0059t0001g0235 a0002c0075t0027g0150 a0002c0081t0013g0277 a0002c0085t0008g0142 a0004c0044t0007g0302 a0004c0044t0013g0280 a0004c0064t0007g0175 a0004c0096t0007g0020 a0005c0022t0002g0284 a0005c0022t0021g0141 a0005c0022t0021g0147 a0005c0051t0019g0164 a0008c0006t0015g0095 a0012c0065t0007g0182 a0012c0102t0007g0188 a0029c0110t0002g0165	24	318	0.0755	2	c.538 others(15): Show c.5383-4_5383-3dupTT		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	39/49					chr9	TogoVar
ABCA1_chr9_104776006_104933155	104794512	T T	TAAA TAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(140): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(13): Show a0001 a0003 a0005 a0006 a0009 a0010 a0014 a0016 a0020 a0021 a0024 a0026 a0028 a0030 a0036 a0037	a0001c0001 a0001c0005 a0001c0035 others(31): Show a0001c0001 a0001c0005 a0001c0035 a0001c0097 a0001c0108 a0001c0109 a0003c0002 a0003c0009 a0003c0038 a0003c0056 a0003c0076 a0005c0071 a0006c0004 a0006c0012 a0006c0063 a0006c0089 a0009c0018 a0009c0021 a0009c0027 a0009c0028 a0010c0007 a0010c0030 a0014c0023 a0014c0053 a0014c0054 a0016c0019 a0020c0045 a0021c0060 a0024c0073 a0026c0111 a0028c0095 a0030c0100 a0036c0094 a0037c0088	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(76): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0039 a0001c0001t0043 a0001c0001t0049 a0001c0001t0052 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0010 a0001c0035t0004 a0001c0035t0009 a0001c0097t0001 a0001c0108t0002 a0001c0109t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0010 a0003c0002t0014 a0003c0002t0028 a0003c0002t0050 a0003c0009t0001 a0003c0009t0003 a0003c0009t0006 a0003c0009t0046 a0003c0009t0051 a0003c0038t0005 a0003c0056t0001 a0003c0076t0002 a0005c0071t0041 a0006c0004t0002 a0006c0004t0003 a0006c0004t0004 a0006c0004t0005 a0006c0004t0006 a0006c0004t0010 a0006c0004t0011 a0006c0004t0042 a0006c0004t0045 a0006c0012t0001 a0006c0012t0002 a0006c0012t0010 a0006c0063t0003 a0006c0089t0003 a0009c0018t0003 a0009c0018t0004 a0009c0021t0001 a0009c0021t0004 a0009c0027t0004 a0009c0027t0006 a0009c0028t0009 a0009c0028t0048 a0010c0007t0002 a0010c0007t0003 a0010c0007t0010 a0010c0030t0001 a0010c0030t0022 a0014c0023t0007 a0014c0023t0017 a0014c0023t0036 a0014c0053t0002 a0014c0054t0010 a0016c0019t0006 a0016c0019t0018 a0020c0045t0002 a0021c0060t0001 a0024c0073t0019 a0026c0111t0002 a0028c0095t0002 a0030c0100t0009 a0036c0094t0009 a0037c0088t0034	a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 others(140): Show a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0176 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0238 a0001c0001t0001g0291 a0001c0001t0002g0074 a0001c0001t0002g0137 a0001c0001t0002g0233 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0297 a0001c0001t0004g0021 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0006g0047 a0001c0001t0006g0054 a0001c0001t0006g0058 a0001c0001t0006g0214 a0001c0001t0006g0225 a0001c0001t0006g0239 a0001c0001t0011g0085 a0001c0001t0012g0039 a0001c0001t0012g0144 a0001c0001t0023g0295 a0001c0001t0023g0296 a0001c0001t0039g0246 a0001c0001t0043g0002 a0001c0001t0049g0034 a0001c0001t0052g0318 a0001c0005t0001g0050 a0001c0005t0002g0017 a0001c0005t0002g0031 a0001c0005t0002g0062 a0001c0005t0002g0064 a0001c0005t0002g0123 a0001c0005t0002g0129 a0001c0005t0002g0192 a0001c0005t0002g0254 a0001c0005t0004g0167 a0001c0005t0010g0043 a0001c0035t0004g0011 a0001c0035t0009g0071 a0001c0097t0001g0106 a0001c0108t0002g0113 a0001c0109t0001g0232 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0002t0002g0122 a0003c0002t0002g0126 a0003c0002t0002g0172 a0003c0002t0002g0184 a0003c0002t0002g0205 a0003c0002t0002g0257 a0003c0002t0003g0127 a0003c0002t0007g0059 a0003c0002t0010g0270 a0003c0002t0014g0066 a0003c0002t0028g0261 a0003c0002t0050g0068 a0003c0009t0001g0279 a0003c0009t0003g0073 a0003c0009t0003g0138 a0003c0009t0003g0178 a0003c0009t0003g0209 a0003c0009t0006g0186 a0003c0009t0046g0219 a0003c0009t0051g0145 a0003c0038t0005g0307 a0003c0056t0001g0288 a0003c0076t0002g0130 a0005c0071t0041g0311 a0006c0004t0002g0132 a0006c0004t0002g0133 a0006c0004t0003g0190 a0006c0004t0004g0067 a0006c0004t0004g0227 a0006c0004t0005g0206 a0006c0004t0006g0249 a0006c0004t0010g0252 a0006c0004t0011g0269 a0006c0004t0042g0265 a0006c0004t0045g0155 a0006c0012t0001g0090 a0006c0012t0001g0212 a0006c0012t0002g0028 a0006c0012t0002g0060 a0006c0012t0002g0140 a0006c0012t0002g0226 a0006c0012t0010g0198 a0006c0063t0003g0151 a0006c0089t0003g0180 a0009c0018t0003g0248 a0009c0018t0003g0253 a0009c0018t0004g0292 a0009c0021t0001g0174 a0009c0021t0004g0204 a0009c0027t0004g0124 a0009c0027t0006g0224 a0009c0027t0006g0267 a0009c0028t0009g0092 a0009c0028t0009g0093 a0009c0028t0048g0241 a0010c0007t0002g0012 a0010c0007t0002g0013 a0010c0007t0002g0015 a0010c0007t0002g0125 a0010c0007t0003g0149 a0010c0007t0010g0139 a0010c0007t0010g0185 a0010c0007t0010g0200 a0010c0007t0010g0201 a0010c0030t0001g0053 a0010c0030t0022g0191 a0014c0023t0007g0115 a0014c0023t0017g0105 a0014c0023t0036g0104 a0014c0053t0002g0146 a0014c0054t0010g0251 a0016c0019t0006g0250 a0016c0019t0018g0117 a0016c0019t0018g0131 a0016c0019t0018g0177 a0020c0045t0002g0299 a0021c0060t0001g0078 a0024c0073t0019g0231 a0026c0111t0002g0065 a0028c0095t0002g0114 a0030c0100t0009g0268 a0036c0094t0009g0079 a0037c0088t0034g0298	143	318	0.4497	3	c.538 others(16): Show c.5383-5_5383-3dupTTT		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	39/49					chr9	TogoVar
ABCA1_chr9_104776006_104933155	104794512	T T	TAAAA TAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG01978.hp1 HG02148.hp2 others(5): Show HG01346.hp2 HG01978.hp1 HG02148.hp2 HG02735.hp2 NA19007.hp2 NA19078.hp2 NA19088.hp1 NA20300.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0092 a0003c0038 others(2): Show a0001c0001 a0001c0092 a0003c0038 a0009c0018 a0009c0021	a0001c0001t0001 a0001c0001t0007 a0001c0092t0012 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0092t0012 a0003c0038t0003 a0009c0018t0038 a0009c0021t0001	a0001c0001t0001g0016 a0001c0001t0001g0121 a0001c0001t0001g0196 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0121 a0001c0001t0001g0196 a0001c0001t0007g0183 a0001c0092t0012g0220 a0003c0038t0003g0293 a0009c0018t0038g0228 a0009c0021t0001g0189	8	318	0.0252	4	c.538 others(17): Show c.5383-6_5383-3dupTTTT		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	39/49					chr9	TogoVar
ABCA1_chr9_104776006_104933155	104794512	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00642.hp1 HG01175.hp2 others(37): Show HG00423.hp1 HG00642.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01952.hp1 HG02004.hp1 HG02027.hp1 HG02083.hp1 HG02129.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02735.hp1 HG02818.hp2 HG03098.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 NA18906.hp1 NA18941.hp2 NA18953.hp2 NA18982.hp1 NA18991.hp2 NA19009.hp1 NA19043.hp1 NA19060.hp1 NA19066.hp1 NA19080.hp2 NA19090.hp2	a0002 a0003 a0004 others(10): Show a0002 a0003 a0004 a0005 a0007 a0008 a0012 a0013 a0019 a0022 a0023 a0031 a0032	a0002c0011 a0002c0017 a0002c0025 others(19): Show a0002c0011 a0002c0017 a0002c0025 a0002c0031 a0002c0037 a0002c0046 a0003c0077 a0004c0008 a0004c0043 a0004c0087 a0005c0014 a0005c0016 a0007c0003 a0008c0006 a0008c0049 a0012c0040 a0013c0013 a0019c0086 a0022c0050 a0023c0072 a0031c0067 a0032c0104	a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(30): Show a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0017t0015 a0002c0025t0015 a0002c0031t0001 a0002c0037t0001 a0002c0046t0002 a0003c0077t0005 a0004c0008t0003 a0004c0043t0003 a0004c0087t0009 a0005c0014t0005 a0005c0014t0006 a0005c0014t0011 a0005c0016t0001 a0005c0016t0011 a0007c0003t0003 a0007c0003t0006 a0008c0006t0001 a0008c0006t0003 a0008c0006t0007 a0008c0006t0012 a0008c0006t0047 a0008c0049t0004 a0012c0040t0029 a0013c0013t0003 a0013c0013t0025 a0019c0086t0003 a0022c0050t0001 a0023c0072t0001 a0031c0067t0006 a0032c0104t0005	a0002c0011t0004g0112 a0002c0011t0007g0119 a0002c0011t0007g0247 others(37): Show a0002c0011t0004g0112 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 a0002c0017t0015g0101 a0002c0025t0015g0283 a0002c0031t0001g0152 a0002c0031t0001g0278 a0002c0037t0001g0275 a0002c0046t0002g0154 a0003c0077t0005g0312 a0004c0008t0003g0197 a0004c0043t0003g0128 a0004c0043t0003g0136 a0004c0087t0009g0118 a0005c0014t0005g0245 a0005c0014t0006g0052 a0005c0014t0011g0222 a0005c0016t0001g0009 a0005c0016t0001g0010 a0005c0016t0011g0075 a0007c0003t0003g0014 a0007c0003t0006g0051 a0008c0006t0001g0087 a0008c0006t0003g0187 a0008c0006t0007g0111 a0008c0006t0012g0081 a0008c0006t0047g0056 a0008c0049t0004g0103 a0012c0040t0029g0001 a0013c0013t0003g0120 a0013c0013t0003g0207 a0013c0013t0003g0256 a0013c0013t0025g0032 a0013c0013t0025g0033 a0019c0086t0003g0100 a0022c0050t0001g0166 a0023c0072t0001g0309 a0031c0067t0006g0223 a0032c0104t0005g0168	40	318	0.1258	-1	c.538 others(7): Show c.5383-3delT		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	39/49					chr9	TogoVar
ABCA1_chr9_104776006_104933155	104802047	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19091.hp2 NA19091.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0028 a0004c0008t0028	a0004c0008t0028g0199 a0004c0008t0028g0199	1	318	0.0031	0	c.469 others(6): Show c.4698+7T>C		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	34/49					chr9	TogoVar
ABCA1_chr9_104776006_104933155	104837574	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0239 a0001c0001t0006g0239	1	318	0.0031	0	c.105 others(6): Show c.1055-7T>C		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	9/49					chr9	TogoVar
ABCA2_chr9_137002234_137033237	137008724	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 NA20300.hp2 HG02965.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0198 a0001c0001t0001g0132 a0001c0001t0001g0198	2	320	0.0063	0	c.706 others(6): Show c.7068+7G>A		ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	47/48					chr9	TogoVar
ABCA2_chr9_137002234_137033237	137008875	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03516.hp1 NA21309.hp1 NA21309.hp2 HG03516.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0013 a0001c0051 a0001c0013 a0001c0051	a0001c0013t0003 a0001c0051t0003 a0001c0013t0003 a0001c0051t0003	a0001c0013t0003g0037 a0001c0051t0003g0152 a0001c0013t0003g0037 a0001c0051t0003g0152	3	320	0.0094	0	c.693 others(6): Show c.6931-7C>T		ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	46/48					chr9	TogoVar
ABCA2_chr9_137002234_137033237	137008943	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0056 a0001c0053t0001g0056	1	320	0.0031	0	c.693 others(6): Show c.6930+8G>A		ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	46/48					chr9	TogoVar
ABCA2_chr9_137002234_137033237	137008944	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG03453.hp1 HG02258.hp1 HG03453.hp1	a0001 a0001	a0001c0007 a0001c0014 a0001c0007 a0001c0014	a0001c0007t0004 a0001c0014t0004 a0001c0007t0004 a0001c0014t0004	a0001c0007t0004g0050 a0001c0014t0004g0158 a0001c0007t0004g0050 a0001c0014t0004g0158	2	320	0.0063	0	c.693 others(6): Show c.6930+7C>T		ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	46/48					chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014683	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02886.hp2 HG03471.hp1 HG02886.hp2 HG03471.hp1	a0001 a0001	a0001c0014 a0001c0054 a0001c0014 a0001c0054	a0001c0014t0003 a0001c0054t0002 a0001c0014t0003 a0001c0054t0002	a0001c0014t0003g0162 a0001c0054t0002g0154 a0001c0014t0003g0162 a0001c0054t0002g0154	2	320	0.0063	0	c.400 others(6): Show c.4003+7G>A		ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	26/48					chr9	TogoVar
ABCA2_chr9_137002234_137033237	137020696	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02109.hp1 HG02717.hp1 HG02886.hp1 others(2): Show HG02109.hp1 HG02717.hp1 HG02886.hp1 HG03098.hp2 NA19240.hp2	a0001 a0001	a0001c0015 a0001c0025 a0001c0015 a0001c0025	a0001c0015t0003 a0001c0025t0002 a0001c0015t0003 a0001c0025t0002	a0001c0015t0003g0062 a0001c0015t0003g0063 a0001c0015t0003g0064 others(1): Show a0001c0015t0003g0062 a0001c0015t0003g0063 a0001c0015t0003g0064 a0001c0025t0002g0020	5	320	0.0156	0	c.126 others(4): Show c.1263C>T	p.Asn others(6): Show p.Asn421Asn	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	9/49	1360/8103	1263/7311	421/2436		chr9	TogoVar
ABCA3_chr16_2270881_2345728	2278940	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	252	0.0040	0	c.454 others(6): Show c.4547+3G>A		ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	29/32					chr16	TogoVar
ABCA3_chr16_2270881_2345728	2281229	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	252	0.0040	0	c.416 others(6): Show c.4165-8G>A		ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	27/32					chr16	TogoVar
ABCA3_chr16_2270881_2345728	2284280	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0164 a0001c0024t0001g0164	1	252	0.0040	0	c.386 others(4): Show c.3861T>C	p.Tyr others(7): Show p.Tyr1287Tyr	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	25/33	4555/6602	3861/5115	1287/1704		chr16	TogoVar
ABCA3_chr16_2270881_2345728	2289628	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02647.hp2 HG02723.hp2 others(4): Show HG01891.hp2 HG02647.hp2 HG02723.hp2 HG03041.hp2 HG03453.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0007g0002 others(3): Show a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0007g0002 a0001c0004t0001g0223 a0001c0005t0001g0179 a0001c0005t0001g0180	7	252	0.0278	0	c.251 others(6): Show c.2514-8C>T		ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	19/32					chr16	TogoVar
ABCA3_chr16_2270881_2345728	2323686	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01884.hp1 HG01891.hp2 HG02258.hp2 others(6): Show HG01884.hp1 HG01891.hp2 HG02258.hp2 HG02723.hp2 HG02809.hp1 HG03098.hp1 HG03516.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0001 a0001c0005t0006 a0001c0009t0001 a0001c0005t0001 a0001c0005t0006 a0001c0009t0001	a0001c0005t0001g0042 a0001c0005t0001g0048 a0001c0005t0001g0179 others(6): Show a0001c0005t0001g0042 a0001c0005t0001g0048 a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0005t0006g0038 a0001c0005t0006g0039 a0001c0009t0001g0047 a0001c0009t0001g0049	9	252	0.0357	0	c.450 others(3): Show c.450G>A	p.Val others(6): Show p.Val150Val	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	7/33	1144/6602	450/5115	150/1704		chr16	TogoVar
ABCA3_chr16_2270881_2345728	2328455	G G	C C	splice_region_variant splice_region_variant	LOW	HG02280.hp1 HG02717.hp1 HG03041.hp1 others(3): Show HG02280.hp1 HG02717.hp1 HG03041.hp1 HG03453.hp2 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0004 a0001c0003t0004 a0001c0006t0004 a0001c0001t0004 a0001c0003t0004 a0001c0006t0004	a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0003t0004g0003 others(3): Show a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0003t0004g0003 a0001c0006t0004g0004 a0001c0006t0004g0005 a0001c0006t0004g0007	6	252	0.0238	0	c.-29 others(3): Show c.-29C>G		ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	3/33					chr16	TogoVar
ABCA3_chr16_2270881_2345728	2328757	G G	C C	splice_region_variant splice_region_variant	LOW	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0249 a0001c0001t0014g0249	1	252	0.0040	0	c.-33 others(4): Show c.-331C>G		ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	3/33					chr16	TogoVar
ABCA4_chr1_93987834_94126148	93996193	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01891.hp2 HG02109.hp2 HG02486.hp2 others(7): Show HG01891.hp2 HG02109.hp2 HG02486.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp2 HG03098.hp1 HG03471.hp1 HG06807.hp2 NA18906.hp1	a0003 a0006 a0019 others(2): Show a0003 a0006 a0019 a0022 a0024	a0003c0015 a0003c0067 a0006c0012 others(4): Show a0003c0015 a0003c0067 a0006c0012 a0006c0076 a0019c0089 a0022c0105 a0024c0102	a0003c0015t0001 a0003c0067t0001 a0006c0012t0001 others(4): Show a0003c0015t0001 a0003c0067t0001 a0006c0012t0001 a0006c0076t0001 a0019c0089t0001 a0022c0105t0001 a0024c0102t0001	a0003c0015t0001g0187 a0003c0015t0001g0188 a0003c0067t0001g0128 others(7): Show a0003c0015t0001g0187 a0003c0015t0001g0188 a0003c0067t0001g0128 a0006c0012t0001g0035 a0006c0012t0001g0134 a0006c0012t0001g0149 a0006c0076t0001g0005 a0019c0089t0001g0297 a0022c0105t0001g0124 a0024c0102t0001g0015	10	306	0.0327	0	c.673 others(4): Show c.6732G>A	p.Val others(7): Show p.Val2244Val	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	49/50	6835/7328	6732/6822	2244/2273		chr1	TogoVar
ABCA4_chr1_93987834_94126148	93996198	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00544.hp1 HG00639.hp1 others(44): Show HG00280.hp2 HG00544.hp1 HG00639.hp1 HG00733.hp2 HG01081.hp2 HG01884.hp1 HG02109.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp2 NA18906.hp2 NA18997.hp2 NA19000.hp1 NA19030.hp2 NA19063.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0003 a0004 a0006 others(13): Show a0003 a0004 a0006 a0007 a0014 a0019 a0023 a0025 a0028 a0029 a0030 a0036 a0038 a0042 a0048 a0051	a0003c0008 a0003c0020 a0003c0031 others(34): Show a0003c0008 a0003c0020 a0003c0031 a0003c0033 a0003c0057 a0003c0061 a0003c0065 a0003c0066 a0003c0068 a0003c0072 a0003c0075 a0003c0078 a0003c0082 a0004c0011 a0004c0035 a0004c0039 a0004c0044 a0004c0046 a0006c0053 a0006c0054 a0007c0026 a0007c0027 a0007c0034 a0007c0097 a0014c0050 a0014c0051 a0019c0090 a0023c0036 a0025c0101 a0028c0074 a0029c0056 a0030c0070 a0036c0071 a0038c0077 a0042c0092 a0048c0038 a0051c0110	a0003c0008t0002 a0003c0020t0001 a0003c0031t0004 others(34): Show a0003c0008t0002 a0003c0020t0001 a0003c0031t0004 a0003c0033t0001 a0003c0057t0002 a0003c0061t0001 a0003c0065t0002 a0003c0066t0003 a0003c0068t0001 a0003c0072t0001 a0003c0075t0001 a0003c0078t0004 a0003c0082t0002 a0004c0011t0002 a0004c0035t0002 a0004c0039t0001 a0004c0044t0002 a0004c0046t0001 a0006c0053t0001 a0006c0054t0002 a0007c0026t0001 a0007c0027t0002 a0007c0034t0002 a0007c0097t0002 a0014c0050t0001 a0014c0051t0002 a0019c0090t0003 a0023c0036t0003 a0025c0101t0001 a0028c0074t0002 a0029c0056t0003 a0030c0070t0001 a0036c0071t0003 a0038c0077t0002 a0042c0092t0004 a0048c0038t0001 a0051c0110t0001	a0003c0008t0002g0065 a0003c0008t0002g0146 a0003c0008t0002g0160 others(44): Show a0003c0008t0002g0065 a0003c0008t0002g0146 a0003c0008t0002g0160 a0003c0008t0002g0245 a0003c0008t0002g0246 a0003c0008t0002g0294 a0003c0020t0001g0119 a0003c0020t0001g0291 a0003c0031t0004g0130 a0003c0033t0001g0186 a0003c0057t0002g0137 a0003c0061t0001g0032 a0003c0065t0002g0268 a0003c0066t0003g0206 a0003c0068t0001g0108 a0003c0072t0001g0049 a0003c0075t0001g0090 a0003c0078t0004g0264 a0003c0082t0002g0215 a0004c0011t0002g0113 a0004c0011t0002g0126 a0004c0011t0002g0127 a0004c0035t0002g0052 a0004c0039t0001g0118 a0004c0044t0002g0190 a0004c0046t0001g0104 a0006c0053t0001g0296 a0006c0054t0002g0123 a0007c0026t0001g0299 a0007c0026t0001g0300 a0007c0027t0002g0022 a0007c0027t0002g0042 a0007c0034t0002g0131 a0007c0097t0002g0100 a0014c0050t0001g0012 a0014c0051t0002g0013 a0019c0090t0003g0047 a0023c0036t0003g0068 a0025c0101t0001g0014 a0028c0074t0002g0243 a0029c0056t0003g0140 a0030c0070t0001g0298 a0036c0071t0003g0048 a0038c0077t0002g0177 a0042c0092t0004g0006 a0048c0038t0001g0199 a0051c0110t0001g0301	47	306	0.1536	0	c.673 others(6): Show c.6730-3T>C		ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	48/49					chr1	TogoVar
ABCA4_chr1_93987834_94126148	94001103	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp2 HG00544.hp1 HG00639.hp1 others(91): Show HG00280.hp2 HG00544.hp1 HG00639.hp1 HG00733.hp2 HG01081.hp2 HG01109.hp2 HG01169.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18953.hp2 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18986.hp2 NA18989.hp2 NA18997.hp2 NA18998.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19066.hp2 NA19087.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0014 a0017 a0019 a0022 a0023 a0024 a0025 a0028 a0029 a0031 a0032 a0036 a0037 a0038 a0040 a0042 a0044 a0047 a0049 a0051	a0001c0004 a0001c0006 a0001c0007 others(53): Show a0001c0004 a0001c0006 a0001c0007 a0001c0055 a0001c0064 a0001c0081 a0001c0085 a0001c0108 a0002c0029 a0002c0094 a0002c0098 a0003c0008 a0003c0015 a0003c0020 a0003c0031 a0003c0057 a0003c0066 a0003c0067 a0003c0075 a0003c0078 a0003c0082 a0004c0011 a0004c0035 a0005c0037 a0005c0040 a0005c0042 a0006c0012 a0006c0054 a0006c0076 a0007c0026 a0007c0027 a0007c0034 a0009c0079 a0010c0069 a0014c0050 a0014c0051 a0017c0017 a0019c0089 a0019c0090 a0022c0105 a0023c0036 a0024c0102 a0025c0101 a0028c0074 a0029c0056 a0031c0059 a0032c0060 a0036c0071 a0037c0058 a0038c0077 a0040c0087 a0042c0092 a0044c0093 a0047c0103 a0049c0106 a0051c0110	a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 others(54): Show a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 a0001c0055t0005 a0001c0064t0001 a0001c0081t0002 a0001c0085t0002 a0001c0108t0001 a0002c0029t0001 a0002c0094t0001 a0002c0098t0001 a0003c0008t0002 a0003c0015t0001 a0003c0020t0001 a0003c0031t0004 a0003c0057t0002 a0003c0066t0003 a0003c0067t0001 a0003c0075t0001 a0003c0078t0004 a0003c0082t0002 a0004c0011t0002 a0004c0035t0002 a0005c0037t0001 a0005c0040t0001 a0005c0042t0001 a0006c0012t0001 a0006c0054t0002 a0006c0076t0001 a0007c0026t0001 a0007c0027t0002 a0007c0034t0002 a0009c0079t0001 a0010c0069t0001 a0014c0050t0001 a0014c0051t0002 a0017c0017t0001 a0019c0089t0001 a0019c0090t0003 a0022c0105t0001 a0023c0036t0003 a0024c0102t0001 a0025c0101t0001 a0028c0074t0002 a0029c0056t0003 a0031c0059t0001 a0032c0060t0001 a0036c0071t0003 a0037c0058t0001 a0038c0077t0002 a0040c0087t0001 a0042c0092t0004 a0044c0093t0001 a0047c0103t0001 a0049c0106t0001 a0051c0110t0001	a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0151 others(91): Show a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0151 a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0217 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0228 a0001c0004t0001g0236 a0001c0004t0001g0249 a0001c0004t0002g0235 a0001c0006t0001g0039 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0006t0001g0144 a0001c0006t0001g0145 a0001c0006t0001g0147 a0001c0006t0001g0154 a0001c0007t0001g0037 a0001c0007t0001g0064 a0001c0007t0001g0089 a0001c0007t0001g0141 a0001c0007t0001g0150 a0001c0007t0001g0156 a0001c0007t0001g0292 a0001c0055t0005g0302 a0001c0064t0001g0233 a0001c0081t0002g0153 a0001c0085t0002g0278 a0001c0108t0001g0008 a0002c0029t0001g0237 a0002c0029t0001g0241 a0002c0094t0001g0079 a0002c0098t0001g0276 a0003c0008t0002g0065 a0003c0008t0002g0146 a0003c0008t0002g0160 a0003c0008t0002g0245 a0003c0008t0002g0246 a0003c0008t0002g0294 a0003c0015t0001g0187 a0003c0015t0001g0188 a0003c0020t0001g0119 a0003c0020t0001g0291 a0003c0031t0004g0130 a0003c0057t0002g0137 a0003c0066t0003g0206 a0003c0067t0001g0128 a0003c0075t0001g0090 a0003c0078t0004g0264 a0003c0082t0002g0215 a0004c0011t0002g0113 a0004c0011t0002g0126 a0004c0011t0002g0127 a0004c0035t0002g0052 a0005c0037t0001g0051 a0005c0040t0001g0125 a0005c0042t0001g0114 a0006c0012t0001g0035 a0006c0012t0001g0134 a0006c0012t0001g0149 a0006c0054t0002g0123 a0006c0076t0001g0005 a0007c0026t0001g0299 a0007c0026t0001g0300 a0007c0027t0002g0022 a0007c0027t0002g0042 a0007c0034t0002g0131 a0009c0079t0001g0133 a0010c0069t0001g0293 a0014c0050t0001g0012 a0014c0051t0002g0013 a0017c0017t0001g0062 a0017c0017t0001g0063 a0019c0089t0001g0297 a0019c0090t0003g0047 a0022c0105t0001g0124 a0023c0036t0003g0068 a0024c0102t0001g0015 a0025c0101t0001g0014 a0028c0074t0002g0243 a0029c0056t0003g0140 a0031c0059t0001g0066 a0032c0060t0001g0011 a0036c0071t0003g0048 a0037c0058t0001g0088 a0038c0077t0002g0177 a0040c0087t0001g0192 a0042c0092t0004g0006 a0044c0093t0001g0017 a0047c0103t0001g0050 a0049c0106t0001g0205 a0051c0110t0001g0301	94	306	0.3072	0	c.628 others(4): Show c.6285T>C	p.Asp others(7): Show p.Asp2095Asp	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	46/50	6388/7328	6285/6822	2095/2273		chr1	TogoVar
ABCA4_chr1_93987834_94126148	94001851	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00544.hp1 HG00733.hp2 others(34): Show HG00280.hp2 HG00544.hp1 HG00733.hp2 HG01081.hp2 HG01884.hp1 HG02027.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18967.hp2 NA18974.hp2 NA18997.hp2 NA18998.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0014 a0017 a0019 a0028 a0029 a0038	a0001c0007 a0001c0081 a0001c0108 others(19): Show a0001c0007 a0001c0081 a0001c0108 a0002c0098 a0003c0008 a0003c0057 a0003c0066 a0003c0082 a0004c0011 a0004c0035 a0005c0037 a0006c0054 a0007c0027 a0007c0034 a0009c0079 a0010c0069 a0014c0051 a0017c0017 a0019c0090 a0028c0074 a0029c0056 a0038c0077	a0001c0007t0001 a0001c0081t0002 a0001c0108t0001 others(19): Show a0001c0007t0001 a0001c0081t0002 a0001c0108t0001 a0002c0098t0001 a0003c0008t0002 a0003c0057t0002 a0003c0066t0003 a0003c0082t0002 a0004c0011t0002 a0004c0035t0002 a0005c0037t0001 a0006c0054t0002 a0007c0027t0002 a0007c0034t0002 a0009c0079t0001 a0010c0069t0001 a0014c0051t0002 a0017c0017t0001 a0019c0090t0003 a0028c0074t0002 a0029c0056t0003 a0038c0077t0002	a0001c0007t0001g0037 a0001c0007t0001g0064 a0001c0007t0001g0089 others(34): Show a0001c0007t0001g0037 a0001c0007t0001g0064 a0001c0007t0001g0089 a0001c0007t0001g0141 a0001c0007t0001g0150 a0001c0007t0001g0156 a0001c0007t0001g0292 a0001c0081t0002g0153 a0001c0108t0001g0008 a0002c0098t0001g0276 a0003c0008t0002g0065 a0003c0008t0002g0146 a0003c0008t0002g0160 a0003c0008t0002g0245 a0003c0008t0002g0246 a0003c0008t0002g0294 a0003c0057t0002g0137 a0003c0066t0003g0206 a0003c0082t0002g0215 a0004c0011t0002g0113 a0004c0011t0002g0126 a0004c0011t0002g0127 a0004c0035t0002g0052 a0005c0037t0001g0051 a0006c0054t0002g0123 a0007c0027t0002g0022 a0007c0027t0002g0042 a0007c0034t0002g0131 a0009c0079t0001g0133 a0010c0069t0001g0293 a0014c0051t0002g0013 a0017c0017t0001g0062 a0017c0017t0001g0063 a0019c0090t0003g0047 a0028c0074t0002g0243 a0029c0056t0003g0140 a0038c0077t0002g0177	37	306	0.1209	0	c.628 others(6): Show c.6282+7G>A		ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	45/49					chr1	TogoVar
ABCA4_chr1_93987834_94126148	94030524	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0109 a0016c0019t0001g0164 a0016c0019t0001g0109 a0016c0019t0001g0164	2	306	0.0065	0	c.425 others(4): Show c.4256T>C	p.Met others(7): Show p.Met1419Thr	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	29/50	4359/7328	4256/6822	1419/2273		chr1	TogoVar
ABCA4_chr1_93987834_94126148	94037349	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA21309.hp1 NA21309.hp1	a0047 a0047	a0047c0103 a0047c0103	a0047c0103t0001 a0047c0103t0001	a0047c0103t0001g0050 a0047c0103t0001g0050	1	306	0.0033	0	c.360 others(4): Show c.3609G>A	p.Gly others(7): Show p.Gly1203Gly	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	25/50	3712/7328	3609/6822	1203/2273		chr1	TogoVar
ABCA4_chr1_93987834_94126148	94047098	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	306	0.0033	0	c.274 others(6): Show c.2744-5C>T		ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	18/49					chr1	TogoVar
ABCA5_chr17_69239311_69332133	69253570	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0039 a0003c0003t0003g0039	1	350	0.0029	0	c.441 others(6): Show c.4415+3G>A		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	34/38					chr17	TogoVar
ABCA5_chr17_69239311_69332133	69255854	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00738.hp2 HG01257.hp2 others(5): Show HG00099.hp2 HG00738.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG02145.hp1 HG02647.hp1 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0016 a0001c0004t0005g0324 a0001c0004t0005g0325 others(5): Show a0001c0004t0005g0016 a0001c0004t0005g0324 a0001c0004t0005g0325 a0001c0004t0005g0326 a0001c0004t0005g0327 a0001c0004t0005g0328 a0001c0004t0005g0329 a0001c0004t0005g0330	8	350	0.0229	0	c.385 others(6): Show c.3859-4T>C		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	29/38					chr17	TogoVar

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