Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
A2ML1_chr12_8817621_8881787	8838805	TCGGGGAG others(9): Show TCGGGGAGGCTGAGGCA	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18969.hp1 NA18945.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0003 a0001c0001t0002 a0002c0004t0003	a0001c0001t0002g0190 a0002c0004t0003g0267 a0001c0001t0002g0190 a0002c0004t0003g0267	2	368	0.0054	-16	c.971 others(31): Show c.971-307_971-292delCGGGGAGGCTGAGGCA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	9/35			chr12	TogoVar
A2ML1_chr12_8817621_8881787	8854629	GAGTTCTT others(9): Show GAGTTCTTCTGAGCTTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(206): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 others(12): Show a0001 a0002 a0005 a0007 a0008 a0013 a0017 a0018 a0019 a0020 a0024 a0035 a0037 a0040 a0041	a0001c0001 a0001c0002 a0001c0006 others(24): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 a0001c0046 a0001c0060 a0001c0068 a0002c0003 a0002c0017 a0005c0009 a0005c0066 a0007c0013 a0007c0034 a0007c0062 a0008c0012 a0008c0024 a0013c0021 a0017c0018 a0018c0032 a0019c0027 a0020c0028 a0024c0058 a0035c0067 a0037c0044 a0040c0036 a0041c0059	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0035t0001 a0001c0046t0001 a0001c0060t0002 a0001c0068t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0017t0003 a0002c0017t0004 a0005c0009t0001 a0005c0066t0001 a0007c0013t0001 a0007c0034t0001 a0007c0062t0002 a0008c0012t0002 a0008c0024t0003 a0008c0024t0004 a0013c0021t0002 a0017c0018t0004 a0018c0032t0002 a0019c0027t0002 a0020c0028t0001 a0024c0058t0002 a0035c0067t0003 a0037c0044t0002 a0040c0036t0001 a0041c0059t0002	a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 others(204): Show a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0244 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0001g0317 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0002g0146 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0234 a0001c0001t0002g0260 a0001c0001t0002g0289 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0331 a0001c0001t0003g0008 a0001c0001t0003g0151 a0001c0001t0003g0157 a0001c0001t0003g0209 a0001c0001t0006g0016 a0001c0001t0008g0100 a0001c0001t0008g0101 a0001c0002t0001g0156 a0001c0002t0001g0282 a0001c0002t0002g0005 a0001c0002t0002g0017 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0054 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0098 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0113 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0143 a0001c0002t0002g0148 a0001c0002t0002g0152 a0001c0002t0002g0162 a0001c0002t0002g0173 a0001c0002t0002g0182 a0001c0002t0002g0187 a0001c0002t0002g0204 a0001c0002t0002g0210 a0001c0002t0002g0214 a0001c0002t0002g0218 a0001c0002t0002g0241 a0001c0002t0002g0249 a0001c0002t0002g0262 a0001c0002t0002g0273 a0001c0002t0002g0275 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0307 a0001c0002t0002g0310 a0001c0002t0002g0318 a0001c0002t0002g0332 a0001c0002t0002g0334 a0001c0002t0002g0337 a0001c0002t0002g0339 a0001c0002t0002g0349 a0001c0002t0002g0353 a0001c0006t0002g0009 a0001c0006t0002g0010 a0001c0006t0002g0226 a0001c0006t0002g0229 a0001c0006t0002g0231 a0001c0006t0002g0243 a0001c0006t0002g0251 a0001c0006t0002g0254 a0001c0006t0002g0258 a0001c0006t0002g0259 a0001c0006t0002g0263 a0001c0006t0002g0324 a0001c0006t0002g0325 a0001c0008t0001g0239 a0001c0008t0001g0246 a0001c0008t0001g0247 a0001c0008t0001g0269 a0001c0008t0001g0270 a0001c0008t0001g0315 a0001c0008t0002g0255 a0001c0008t0002g0265 a0001c0008t0002g0358 a0001c0035t0001g0189 a0001c0046t0001g0236 a0001c0060t0002g0070 a0001c0068t0002g0333 a0002c0003t0001g0060 a0002c0003t0001g0099 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0002g0347 a0002c0003t0004g0031 a0002c0003t0004g0061 a0002c0003t0004g0292 a0002c0003t0004g0336 a0002c0003t0004g0355 a0002c0017t0003g0233 a0002c0017t0004g0261 a0005c0009t0001g0001 a0005c0009t0001g0055 a0005c0009t0001g0056 a0005c0009t0001g0068 a0005c0009t0001g0077 a0005c0009t0001g0110 a0005c0009t0001g0111 a0005c0009t0001g0225 a0005c0009t0001g0340 a0005c0066t0001g0235 a0007c0013t0001g0158 a0007c0013t0001g0172 a0007c0013t0001g0211 a0007c0013t0001g0319 a0007c0034t0001g0316 a0007c0034t0001g0357 a0007c0062t0002g0356 a0008c0012t0002g0043 a0008c0012t0002g0076 a0008c0012t0002g0165 a0008c0012t0002g0167 a0008c0024t0003g0027 a0008c0024t0004g0277 a0013c0021t0002g0117 a0013c0021t0002g0160 a0013c0021t0002g0196 a0017c0018t0004g0118 a0018c0032t0002g0066 a0018c0032t0002g0115 a0019c0027t0002g0012 a0019c0027t0002g0030 a0020c0028t0001g0092 a0020c0028t0001g0096 a0024c0058t0002g0081 a0035c0067t0003g0223 a0037c0044t0002g0112 a0040c0036t0001g0170 a0041c0059t0002g0335	209	368	0.5679	-16	c.271 others(33): Show c.2713-147_2713-132delTCTTCTGAGCTTCAGT	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	21/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33308018	CCCCCACC others(9): Show CCCCCACCGCAACCTCA	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0171 a0001c0001t0000g0171	1	418	0.0024	-16	c.336 others(31): Show c.336-581_336-566delTGAGGTTGCGGTGGGG	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
AACS_chr12_125060435_125148316	125094978	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(163): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0025 a0002c0026 a0004c0018 a0008c0023 a0010c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0009 a0001c0004t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0025t0001 a0002c0026t0001 a0004c0018t0003 a0008c0023t0003 a0010c0022t0001	a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0030 others(161): Show a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0319 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0358 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0082 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0182 a0001c0001t0002g0240 a0001c0001t0002g0293 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0003g0179 a0001c0001t0003g0219 a0001c0001t0003g0330 a0001c0001t0005g0060 a0001c0001t0005g0063 a0001c0001t0005g0099 a0001c0001t0006g0064 a0001c0001t0006g0076 a0001c0001t0006g0084 a0001c0001t0006g0160 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0003t0009g0189 a0001c0004t0004g0328 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0002g0125 a0002c0002t0003g0120 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279 a0002c0025t0001g0255 a0002c0026t0001g0145 a0004c0018t0003g0280 a0008c0023t0003g0119 a0010c0022t0001g0128	166	364	0.4560	-16	c.570 others(33): Show c.570+3486_570+3501delGTGTGTGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125110189	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01074.hp2 HG01975.hp1 others(15): Show HG00544.hp2 HG01074.hp2 HG01975.hp1 HG02004.hp2 HG02293.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03139.hp2 HG03579.hp1 HG04184.hp1 HG06807.hp2 NA18966.hp1 NA18975.hp2 NA19030.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0012 a0002c0002 a0002c0021 a0006c0013	a0001c0001t0001 a0001c0003t0004 a0001c0004t0001 others(6): Show a0001c0001t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0009t0001 a0001c0012t0004 a0002c0002t0001 a0002c0021t0001 a0006c0013t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(15): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0191 a0001c0003t0004g0083 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0209 a0001c0004t0004g0249 a0001c0009t0001g0348 a0001c0009t0001g0349 a0001c0012t0004g0244 a0002c0002t0001g0011 a0002c0021t0001g0026 a0006c0013t0001g0350	18	364	0.0495	-16	c.915 others(33): Show c.915+2967_915+2982delGTGTGTGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL2_chr3_151728927_151766339	151761204	GATATATA others(9): Show GATATATATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00544.hp2 others(104): Show HG00099.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18979.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0007c0009 a0008c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0029 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0029 a0001c0001t0065 a0001c0001t0066 a0002c0002t0001 a0002c0002t0006 a0003c0003t0001 a0007c0009t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0018 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0006g0016 a0001c0001t0006g0021 a0001c0001t0006g0050 a0001c0001t0006g0065 a0001c0001t0006g0069 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0119 a0001c0001t0029g0001 a0001c0001t0029g0061 a0001c0001t0065g0094 a0001c0001t0066g0016 a0002c0002t0001g0001 a0002c0002t0006g0085 a0003c0003t0001g0026 a0007c0009t0001g0118 a0008c0008t0001g0001	107	428	0.2500	-16	c.36 others(27): Show c.3633_*3648delATATATATATATATAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3633	INFO_REALIGN_3_PRIME	chr3	TogoVar
AAK1_chr2_69452997_69648739	69500690	TATATATA others(9): Show TATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG03486.hp1 others(1): Show HG02622.hp1 HG02896.hp2 HG03486.hp1 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0016 a0002c0005 a0002c0016	a0002c0005t0018 a0002c0005t0100 a0002c0016t0103 a0002c0005t0018 a0002c0005t0100 a0002c0016t0103	a0002c0005t0018g0103 a0002c0005t0018g0104 a0002c0005t0100g0116 others(1): Show a0002c0005t0018g0103 a0002c0005t0018g0104 a0002c0005t0100g0116 a0002c0016t0103g0106	4	298	0.0134	-16	c.227 others(35): Show c.2270-4626_2270-4611delGTGTGTGTATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69559284	ACACACAC others(9): Show ACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0229 a0002c0002t0005g0229	1	298	0.0034	-16	c.164 others(33): Show c.164-2322_164-2307delAGTGTGTGTGTGTGTG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69647388	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00735.hp1 others(87): Show HG00438.hp1 HG00544.hp1 HG00735.hp1 HG00738.hp1 HG01106.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18977.hp2 NA18980.hp1 NA18992.hp1 NA18994.hp2 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0002 a0002c0005 a0003c0021 a0009c0025	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(40): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0034 a0001c0001t0077 a0001c0001t0117 a0001c0001t0119 a0001c0001t0126 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0143 a0001c0001t0144 a0001c0001t0147 a0001c0001t0149 a0001c0003t0142 a0001c0004t0146 a0001c0004t0153 a0001c0007t0021 a0001c0007t0034 a0001c0007t0035 a0001c0007t0148 a0001c0008t0135 a0002c0002t0003 a0002c0002t0005 a0002c0002t0033 a0002c0002t0115 a0002c0002t0127 a0002c0002t0128 a0002c0002t0129 a0002c0002t0130 a0002c0002t0131 a0002c0002t0132 a0002c0002t0133 a0002c0005t0122 a0002c0005t0123 a0002c0005t0150 a0003c0021t0151 a0009c0025t0003	a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(87): Show a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 a0001c0001t0004g0233 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0268 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0207 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0006g0220 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0011g0192 a0001c0001t0011g0194 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0011g0197 a0001c0001t0011g0201 a0001c0001t0020g0193 a0001c0001t0020g0202 a0001c0001t0020g0208 a0001c0001t0021g0278 a0001c0001t0034g0267 a0001c0001t0077g0072 a0001c0001t0117g0189 a0001c0001t0119g0181 a0001c0001t0126g0219 a0001c0001t0136g0212 a0001c0001t0137g0247 a0001c0001t0138g0209 a0001c0001t0139g0231 a0001c0001t0140g0269 a0001c0001t0143g0198 a0001c0001t0144g0232 a0001c0001t0147g0274 a0001c0001t0149g0280 a0001c0003t0142g0214 a0001c0004t0146g0273 a0001c0004t0153g0296 a0001c0007t0021g0276 a0001c0007t0021g0279 a0001c0007t0034g0270 a0001c0007t0035g0271 a0001c0007t0148g0277 a0001c0008t0135g0262 a0002c0002t0003g0203 a0002c0002t0003g0227 a0002c0002t0003g0238 a0002c0002t0003g0242 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0263 a0002c0002t0005g0226 a0002c0002t0005g0228 a0002c0002t0005g0229 a0002c0002t0005g0230 a0002c0002t0005g0234 a0002c0002t0005g0235 a0002c0002t0005g0239 a0002c0002t0005g0240 a0002c0002t0005g0248 a0002c0002t0005g0256 a0002c0002t0033g0200 a0002c0002t0033g0255 a0002c0002t0115g0180 a0002c0002t0127g0249 a0002c0002t0128g0237 a0002c0002t0129g0241 a0002c0002t0130g0243 a0002c0002t0131g0211 a0002c0002t0132g0236 a0002c0002t0133g0210 a0002c0005t0122g0182 a0002c0005t0123g0183 a0002c0005t0150g0281 a0003c0021t0151g0282 a0009c0025t0003g0260	90	298	0.3020	-16	c.-40 others(27): Show c.-4064_-4049delTAAATAAATAAATAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding		3650		chr2	TogoVar
AAMDC_chr11_77816144_77877352	77832951	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02056.hp2 HG02148.hp1 others(8): Show HG01975.hp1 HG02056.hp2 HG02148.hp1 NA18942.hp1 NA18946.hp2 NA18951.hp2 NA18953.hp2 NA18966.hp1 NA19011.hp2 NA19063.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0128 others(8): Show a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0206 a0003c0005t0001g0112	11	382	0.0288	-16	c.-18 others(33): Show c.-18-9496_-18-9481delGTGTGTGTGTGTGTGT	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77850769	CACACATA others(9): Show CACACATACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG03209.hp1 others(1): Show HG02647.hp2 HG02922.hp1 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 others(1): Show a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0353	4	382	0.0105	-16	c.132 others(33): Show c.132+8147_132+8162delTACACACACATACACA	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77850775	TACACACA others(9): Show TACACACACATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(68): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19030.hp2 NA19074.hp1 NA19085.hp1 NA19088.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0208 others(66): Show a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0208 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0348 a0001c0002t0002g0349	71	382	0.1859	-16	c.132 others(33): Show c.132+8157_132+8172delTACACACACACACACA	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AARS1_chr16_70247298_70294506	70269322	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA21309.hp2 HG01433.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0130 a0002c0004t0001g0348 a0001c0001t0001g0130 a0002c0004t0001g0348	2	362	0.0055	-16	c.962 others(31): Show c.962+280_962+295delTTTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARSD1_chr17_42945526_42969454	42965994	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	324	0.0031	-16	c.-15 others(27): Show c.-1570_-1555delTTTTTTTTTTTTTTTT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		1541		chr17	TogoVar
AARSD1_chr17_42945526_42969454	42967491	ATTTTAAA others(9): Show ATTTTAAATATATAATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00673.hp2 others(20): Show HG00408.hp1 HG00597.hp1 HG00673.hp2 HG01168.hp2 HG02027.hp2 HG02135.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG04115.hp1 NA18944.hp2 NA18948.hp1 NA18953.hp2 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA19009.hp1 NA19009.hp2 NA19057.hp1 NA19078.hp2 NA19081.hp1 NA19086.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0148 a0001c0001t0001g0149	23	324	0.0710	-16	c.-30 others(27): Show c.-3067_-3052delAATTATATATTTAAAA	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		3038		chr17	TogoVar
AARSD1_chr17_42945526_42969454	42967493	TTTAAATA others(9): Show TTTAAATATATAATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG02071.hp2 others(2): Show HG00423.hp1 HG00621.hp1 HG02071.hp2 NA18939.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0096 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0112	5	324	0.0154	-16	c.-30 others(27): Show c.-3069_-3054delTAAATTATATATTTAA	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		3040		chr17	TogoVar
AASDH_chr4_56333290_56392491	56342110	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02148.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18966.hp2 NA18989.hp1 NA19030.hp2 NA19060.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0003 a0018 a0003 a0018	a0003c0003 a0018c0023 a0003c0003 a0018c0023	a0003c0003t0002 a0018c0023t0002 a0003c0003t0002 a0018c0023t0002	a0003c0003t0002g0003 a0003c0003t0002g0010 a0003c0003t0002g0025 others(66): Show a0003c0003t0002g0003 a0003c0003t0002g0010 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0042 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0052 a0003c0003t0002g0238 a0003c0003t0002g0239 a0003c0003t0002g0240 a0003c0003t0002g0241 a0003c0003t0002g0243 a0003c0003t0002g0244 a0003c0003t0002g0245 a0003c0003t0002g0246 a0003c0003t0002g0247 a0003c0003t0002g0248 a0003c0003t0002g0249 a0003c0003t0002g0250 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0253 a0003c0003t0002g0254 a0003c0003t0002g0255 a0003c0003t0002g0256 a0003c0003t0002g0257 a0003c0003t0002g0258 a0003c0003t0002g0259 a0003c0003t0002g0260 a0003c0003t0002g0261 a0003c0003t0002g0262 a0003c0003t0002g0263 a0003c0003t0002g0264 a0003c0003t0002g0265 a0003c0003t0002g0266 a0003c0003t0002g0267 a0003c0003t0002g0268 a0003c0003t0002g0269 a0003c0003t0002g0270 a0003c0003t0002g0271 a0003c0003t0002g0272 a0003c0003t0002g0273 a0003c0003t0002g0274 a0003c0003t0002g0275 a0003c0003t0002g0276 a0003c0003t0002g0277 a0003c0003t0002g0278 a0003c0003t0002g0279 a0003c0003t0002g0286 a0003c0003t0002g0287 a0003c0003t0002g0288 a0003c0003t0002g0289 a0003c0003t0002g0290 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0294 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0297 a0003c0003t0002g0327 a0003c0003t0002g0328 a0018c0023t0002g0043	77	382	0.2016	-16	c.290 others(33): Show c.2907+709_2907+724delTTTTTTTTTTTTTTTT	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	14/14			chr4	TogoVar
AATF_chr17_36943954_37061871	36968266	CTTTCTTT others(9): Show CTTTCTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp2 others(30): Show HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03834.hp2 NA18943.hp2 NA18945.hp1 NA18963.hp2 NA18985.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19075.hp2 NA19082.hp1 NA19084.hp2 NA19088.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0147 a0001c0001t0002g0001 a0001c0001t0002g0002 others(29): Show a0001c0001t0001g0147 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0003g0016 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079	33	245	0.1347	-16	c.832 others(35): Show c.832+14363_832+14378delCTTTTTTTTTTTTTTT	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37001405	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0045 a0001c0003t0004g0045	1	245	0.0041	-16	c.139 others(37): Show c.1398+10583_1398+10598delGAAGGAAGGAAGGAAG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATK_chr17_81112295_81171221	81119229	TGGGGCCG others(9): Show TGGGGCCGGGAAGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(176): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0007 a0010 a0011 a0012 a0018 a0024 a0028 a0029 a0031 a0034	a0001c0001 a0002c0002 a0002c0032 others(24): Show a0001c0001 a0002c0002 a0002c0032 a0002c0057 a0002c0061 a0002c0064 a0002c0073 a0002c0075 a0003c0007 a0003c0009 a0004c0005 a0004c0029 a0004c0035 a0004c0062 a0007c0008 a0007c0031 a0007c0071 a0010c0014 a0010c0030 a0011c0018 a0012c0016 a0018c0072 a0024c0052 a0028c0051 a0029c0050 a0031c0049 a0034c0038	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(32): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0017 a0002c0002t0018 a0002c0032t0001 a0002c0057t0001 a0002c0061t0001 a0002c0064t0001 a0002c0073t0007 a0002c0075t0001 a0003c0007t0001 a0003c0007t0019 a0003c0009t0001 a0004c0005t0001 a0004c0005t0005 a0004c0029t0001 a0004c0035t0001 a0004c0062t0001 a0007c0008t0001 a0007c0008t0015 a0007c0031t0001 a0007c0071t0001 a0010c0014t0001 a0010c0030t0001 a0011c0018t0001 a0012c0016t0001 a0018c0072t0001 a0024c0052t0001 a0028c0051t0001 a0029c0050t0001 a0031c0049t0001 a0034c0038t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(165): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0001g0302 a0001c0001t0001g0325 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0110 a0002c0002t0001g0117 a0002c0002t0001g0128 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0161 a0002c0002t0001g0171 a0002c0002t0001g0185 a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0259 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0001g0282 a0002c0002t0001g0290 a0002c0002t0001g0304 a0002c0002t0001g0327 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0006g0218 a0002c0002t0007g0140 a0002c0002t0007g0148 a0002c0002t0007g0175 a0002c0002t0017g0097 a0002c0002t0018g0151 a0002c0032t0001g0292 a0002c0057t0001g0241 a0002c0061t0001g0044 a0002c0064t0001g0269 a0002c0073t0007g0196 a0002c0075t0001g0344 a0003c0007t0001g0280 a0003c0007t0001g0318 a0003c0007t0001g0319 a0003c0007t0019g0321 a0003c0009t0001g0158 a0003c0009t0001g0248 a0004c0005t0001g0015 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0059 a0004c0005t0001g0065 a0004c0005t0001g0077 a0004c0005t0001g0086 a0004c0005t0001g0113 a0004c0005t0001g0122 a0004c0005t0001g0180 a0004c0005t0001g0181 a0004c0005t0001g0253 a0004c0005t0001g0258 a0004c0005t0001g0317 a0004c0005t0005g0024 a0004c0029t0001g0021 a0004c0035t0001g0114 a0004c0062t0001g0200 a0007c0008t0001g0068 a0007c0008t0001g0091 a0007c0008t0001g0118 a0007c0008t0001g0130 a0007c0008t0001g0215 a0007c0008t0001g0227 a0007c0008t0001g0229 a0007c0008t0001g0320 a0007c0008t0015g0201 a0007c0031t0001g0261 a0007c0071t0001g0204 a0010c0014t0001g0020 a0010c0014t0001g0251 a0010c0030t0001g0289 a0011c0018t0001g0072 a0011c0018t0001g0080 a0011c0018t0001g0090 a0012c0016t0001g0168 a0012c0016t0001g0170 a0012c0016t0001g0184 a0018c0072t0001g0322 a0024c0052t0001g0165 a0028c0051t0001g0029 a0029c0050t0001g0287 a0031c0049t0001g0067 a0034c0038t0001g0169	179	368	0.4864	-16	c.408 others(33): Show c.4084+135_4084+150delGCTCCTTCCCGGCCCC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81140639	AGACCGTG others(9): Show AGACCGTGGGGCCGGGG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02809.hp1 HG02895.hp1 HG01255.hp2 HG02809.hp1 HG02895.hp1	a0012 a0015 a0012 a0015	a0012c0016 a0015c0022 a0012c0016 a0015c0022	a0012c0016t0001 a0015c0022t0012 a0012c0016t0001 a0015c0022t0012	a0012c0016t0001g0184 a0015c0022t0012g0246 a0015c0022t0012g0266 a0012c0016t0001g0184 a0015c0022t0012g0246 a0015c0022t0012g0266	3	368	0.0082	-16	c.56- others(31): Show c.56-6154_56-6139delCCCCGGCCCCACGGTC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81140815	GCCGTGGG others(9): Show GCCGTGGGGCCGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0015 a0007c0008t0015	a0007c0008t0015g0201 a0007c0008t0015g0201	1	368	0.0027	-16	c.56- others(31): Show c.56-6330_56-6315delTCTCCCGGCCCCACGG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81141917	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(87): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01943.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18945.hp2 NA18949.hp2 NA18952.hp2 NA18955.hp1 NA18966.hp1 NA18970.hp1 NA18973.hp1 NA18982.hp2 NA18983.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0012 a0013 a0024 a0034	a0001c0001 a0001c0004 a0001c0011 others(12): Show a0001c0001 a0001c0004 a0001c0011 a0001c0060 a0002c0002 a0003c0003 a0003c0009 a0003c0058 a0004c0005 a0004c0062 a0007c0008 a0012c0016 a0013c0015 a0024c0052 a0034c0038	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0022 a0001c0004t0002 a0001c0011t0001 a0001c0060t0002 a0002c0002t0001 a0002c0002t0007 a0002c0002t0018 a0003c0003t0002 a0003c0009t0001 a0003c0058t0002 a0004c0005t0001 a0004c0062t0001 a0007c0008t0001 a0012c0016t0001 a0013c0015t0008 a0024c0052t0001 a0034c0038t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(80): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0001t0013g0216 a0001c0001t0022g0346 a0001c0004t0002g0012 a0001c0004t0002g0141 a0001c0004t0002g0264 a0001c0011t0001g0249 a0001c0060t0002g0056 a0002c0002t0001g0117 a0002c0002t0001g0134 a0002c0002t0001g0203 a0002c0002t0001g0211 a0002c0002t0001g0275 a0002c0002t0007g0140 a0002c0002t0007g0148 a0002c0002t0007g0175 a0002c0002t0018g0151 a0003c0003t0002g0064 a0003c0003t0002g0142 a0003c0009t0001g0158 a0003c0058t0002g0063 a0004c0005t0001g0122 a0004c0062t0001g0200 a0007c0008t0001g0130 a0012c0016t0001g0168 a0012c0016t0001g0170 a0013c0015t0008g0001 a0024c0052t0001g0165 a0034c0038t0001g0169	90	368	0.2446	-16	c.56- others(31): Show c.56-7432_56-7417delAGGAAGGAAGGAAGGA	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81141945	TTCCTTCC others(9): Show TTCCTTCCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG04228.hp1 NA18979.hp2 others(1): Show HG00544.hp2 HG04228.hp1 NA18979.hp2 NA19009.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0001 a0001c0004t0002 a0003c0003t0002 a0001c0001t0001 a0001c0004t0002 a0003c0003t0002	a0001c0001t0001g0076 a0001c0004t0002g0039 a0001c0004t0002g0040 others(1): Show a0001c0001t0001g0076 a0001c0004t0002g0039 a0001c0004t0002g0040 a0003c0003t0002g0154	4	368	0.0109	-16	c.56- others(31): Show c.56-7460_56-7445delGGAAGGAAAGGAAGGA	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8709350	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0013	a0002c0007t0013g0031 a0002c0007t0013g0031	1	362	0.0028	-16	c.-41 others(35): Show c.-41-26325_-41-26310delATTTATTTATTTATTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710683	TGAGAGAG others(9): Show TGAGAGAGAGACAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01192.hp1 HG01496.hp2 others(4): Show HG00099.hp1 HG01192.hp1 HG01496.hp2 HG02965.hp1 HG03490.hp1 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0004 others(2): Show a0001c0003 a0002c0002 a0002c0004 a0002c0005 a0002c0006	a0001c0003t0002 a0002c0002t0002 a0002c0004t0001 others(3): Show a0001c0003t0002 a0002c0002t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0008 a0002c0006t0003	a0001c0003t0002g0177 a0002c0002t0002g0020 a0002c0004t0001g0019 others(4): Show a0001c0003t0002g0177 a0002c0002t0002g0020 a0002c0004t0001g0019 a0002c0005t0001g0022 a0002c0005t0008g0016 a0002c0005t0008g0017 a0002c0006t0003g0023	7	362	0.0193	-16	c.-41 others(35): Show c.-41-25005_-41-24990delCAGAGAGAGAGAGAGA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8733062	GCCGGGCG others(9): Show GCCGGGCGGGGGGCTGA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	362	0.0028	-16	c.-41 others(33): Show c.-41-2634_-41-2619delGGGCGGGGGGCTGACC	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8754662	ATTTATTT others(9): Show ATTTATTTATTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01258.hp1 HG01516.hp2 others(7): Show HG01192.hp2 HG01258.hp1 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG02683.hp2 HG03195.hp2 HG03453.hp1 HG06807.hp1 NA18942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0043 a0001c0003t0005 a0002c0002t0001 a0002c0002t0006	a0001c0001t0001g0218 a0001c0001t0002g0160 a0001c0001t0002g0256 others(7): Show a0001c0001t0001g0218 a0001c0001t0002g0160 a0001c0001t0002g0256 a0001c0001t0005g0138 a0001c0001t0043g0056 a0001c0003t0005g0233 a0002c0002t0001g0010 a0002c0002t0001g0297 a0002c0002t0001g0334 a0002c0002t0006g0043	10	362	0.0276	-16	c.317 others(33): Show c.317-3091_317-3076delATTTATTTCTTTCTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8772252	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02074.hp2 HG02280.hp2 others(4): Show HG00099.hp1 HG02074.hp2 HG02280.hp2 HG02965.hp1 HG03540.hp2 HG03688.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0021 a0002c0002 others(2): Show a0001c0003 a0001c0021 a0002c0002 a0002c0004 a0002c0009	a0001c0003t0002 a0001c0021t0001 a0002c0002t0002 others(3): Show a0001c0003t0002 a0001c0021t0001 a0002c0002t0002 a0002c0002t0008 a0002c0004t0001 a0002c0009t0002	a0001c0003t0002g0177 a0001c0021t0001g0111 a0002c0002t0002g0020 others(4): Show a0001c0003t0002g0177 a0001c0021t0001g0111 a0002c0002t0002g0020 a0002c0002t0008g0106 a0002c0004t0001g0223 a0002c0009t0002g0316 a0002c0009t0002g0340	7	362	0.0193	-16	c.817 others(31): Show c.817-491_817-476delTGTGTGTGTGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	362	0.0028	-16	c.954 others(31): Show c.954+216_954+231delCACACACACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA12_chr2_214926542_215143626	215064693	GCACACAC others(9): Show GCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0016 a0002c0017t0016	a0002c0017t0016g0179 a0002c0017t0016g0180 a0002c0017t0016g0179 a0002c0017t0016g0180	2	198	0.0101	-16	c.164 others(31): Show c.164-490_164-475delTGTGTGTGTGTGTGTG	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215133149	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0008 a0004c0018t0008	a0004c0018t0008g0196 a0004c0018t0008g0196	1	198	0.0051	-16	c.69+ others(31): Show c.69+4975_69+4990delAAAAAAAAAAAAAAAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48172797	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(62): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18959.hp1 NA18961.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp2 NA18986.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA19011.hp1 NA19062.hp2 NA19083.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(38): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0018 a0020 a0022 a0023 a0024 a0025 a0029 a0038 a0039 a0041 a0043 a0049 a0051 a0054 a0058 a0065 a0066 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0079 a0081 a0082	a0001c0001 a0002c0002 a0002c0022 others(46): Show a0001c0001 a0002c0002 a0002c0022 a0002c0065 a0004c0008 a0004c0009 a0004c0079 a0005c0005 a0006c0007 a0006c0023 a0007c0011 a0007c0101 a0008c0013 a0009c0107 a0010c0031 a0012c0016 a0014c0019 a0014c0047 a0018c0029 a0020c0034 a0020c0109 a0022c0020 a0023c0018 a0024c0027 a0025c0089 a0029c0014 a0038c0108 a0039c0110 a0041c0112 a0043c0093 a0049c0055 a0051c0053 a0054c0048 a0058c0035 a0065c0091 a0066c0062 a0068c0067 a0069c0066 a0070c0064 a0071c0038 a0072c0069 a0073c0078 a0074c0080 a0075c0081 a0076c0083 a0077c0082 a0079c0087 a0081c0086 a0082c0088	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(57): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0022t0002 a0002c0022t0004 a0002c0065t0006 a0004c0008t0001 a0004c0008t0004 a0004c0008t0005 a0004c0009t0001 a0004c0009t0002 a0004c0079t0006 a0005c0005t0003 a0006c0007t0002 a0006c0007t0003 a0006c0023t0003 a0007c0011t0003 a0007c0011t0007 a0007c0101t0003 a0008c0013t0001 a0009c0107t0001 a0010c0031t0003 a0012c0016t0001 a0014c0019t0002 a0014c0047t0001 a0018c0029t0001 a0020c0034t0003 a0020c0109t0001 a0022c0020t0005 a0023c0018t0001 a0024c0027t0001 a0024c0027t0006 a0025c0089t0012 a0029c0014t0005 a0038c0108t0001 a0039c0110t0007 a0041c0112t0011 a0043c0093t0002 a0049c0055t0003 a0051c0053t0004 a0054c0048t0004 a0058c0035t0002 a0065c0091t0001 a0066c0062t0003 a0068c0067t0009 a0069c0066t0001 a0070c0064t0001 a0071c0038t0005 a0072c0069t0001 a0073c0078t0003 a0074c0080t0013 a0075c0081t0001 a0076c0083t0003 a0077c0082t0005 a0079c0087t0002 a0081c0086t0009 a0082c0088t0005	a0001c0001t0001g0133 a0001c0001t0004g0164 a0001c0001t0006g0178 others(62): Show a0001c0001t0001g0133 a0001c0001t0004g0164 a0001c0001t0006g0178 a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0168 a0002c0002t0004g0140 a0002c0022t0002g0124 a0002c0022t0004g0163 a0002c0065t0006g0128 a0004c0008t0001g0149 a0004c0008t0004g0167 a0004c0008t0005g0169 a0004c0009t0001g0116 a0004c0009t0002g0151 a0004c0009t0002g0166 a0004c0079t0006g0147 a0005c0005t0003g0132 a0006c0007t0002g0129 a0006c0007t0003g0121 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0007c0011t0003g0130 a0007c0011t0007g0165 a0007c0101t0003g0139 a0008c0013t0001g0111 a0009c0107t0001g0112 a0010c0031t0003g0115 a0010c0031t0003g0118 a0012c0016t0001g0108 a0014c0019t0002g0136 a0014c0047t0001g0155 a0018c0029t0001g0134 a0020c0034t0003g0117 a0020c0109t0001g0120 a0022c0020t0005g0123 a0023c0018t0001g0110 a0024c0027t0001g0161 a0024c0027t0006g0162 a0025c0089t0012g0154 a0029c0014t0005g0119 a0038c0108t0001g0113 a0039c0110t0007g0126 a0041c0112t0011g0114 a0043c0093t0002g0150 a0049c0055t0003g0125 a0051c0053t0004g0122 a0054c0048t0004g0159 a0058c0035t0002g0157 a0065c0091t0001g0109 a0066c0062t0003g0141 a0068c0067t0009g0142 a0069c0066t0001g0143 a0070c0064t0001g0127 a0071c0038t0005g0135 a0072c0069t0001g0144 a0073c0078t0003g0170 a0074c0080t0013g0158 a0075c0081t0001g0148 a0076c0083t0003g0145 a0077c0082t0005g0146 a0079c0087t0002g0153 a0081c0086t0009g0160 a0082c0088t0005g0152	65	178	0.3652	-16	c.69+ others(31): Show c.69+1268_69+1283delAAAAAAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	1/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48219883	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp1 HG02809.hp2 HG03471.hp1	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0003 a0015c0025t0003	a0015c0025t0003g0024 a0015c0025t0003g0025 a0015c0025t0003g0024 a0015c0025t0003g0025	2	178	0.0112	-16	c.439 others(31): Show c.439+414_439+429delCACACACACACACACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48225135	GCCTTCCT others(9): Show GCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0020 a0020	a0020c0109 a0020c0109	a0020c0109t0001 a0020c0109t0001	a0020c0109t0001g0120 a0020c0109t0001g0120	1	178	0.0056	-16	c.469 others(33): Show c.469-2085_469-2070delCTTCCTTCCTTCCTTC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48329601	ACATCCAT others(9): Show ACATCCATCCATCTGTC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0087 a0087	a0087c0039 a0087c0039	a0087c0039t0001 a0087c0039t0001	a0087c0039t0001g0003 a0087c0039t0001g0003	1	178	0.0056	-16	c.100 others(37): Show c.10000-5808_10000-5793delTGTCCATCCATCCATC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	27/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48410977	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG06807.hp1 NA18956.hp2 others(3): Show HG02622.hp2 HG06807.hp1 NA18956.hp2 NA19007.hp2 NA19091.hp1 NA20300.hp2	a0001 a0021 a0056 others(2): Show a0001 a0021 a0056 a0057 a0062	a0001c0001 a0021c0028 a0056c0050 others(2): Show a0001c0001 a0021c0028 a0056c0050 a0057c0036 a0062c0075	a0001c0001t0004 a0021c0028t0003 a0056c0050t0004 others(2): Show a0001c0001t0004 a0021c0028t0003 a0056c0050t0004 a0057c0036t0007 a0062c0075t0005	a0001c0001t0004g0164 a0021c0028t0003g0005 a0021c0028t0003g0011 others(3): Show a0001c0001t0004g0164 a0021c0028t0003g0005 a0021c0028t0003g0011 a0056c0050t0004g0099 a0057c0036t0007g0083 a0062c0075t0005g0023	6	178	0.0337	-16	c.122 others(35): Show c.12228+358_12228+373delCTTTCTTTCTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48563794	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01070.hp2 others(27): Show HG00408.hp1 HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01169.hp1 HG01516.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp2 HG02258.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp2 HG04204.hp1 HG06807.hp2 NA18942.hp1 NA18971.hp1 NA18987.hp1 NA18991.hp2 NA18998.hp2 NA19007.hp2 NA19060.hp1 NA19091.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0008 a0009 a0018 a0023 a0025 a0030 a0031 a0032 a0035 a0036 a0045 a0048 a0051 a0054 a0056 a0058 a0074 a0084	a0001c0001 a0002c0022 a0003c0003 others(21): Show a0001c0001 a0002c0022 a0003c0003 a0003c0004 a0004c0008 a0008c0013 a0008c0032 a0009c0012 a0018c0029 a0023c0018 a0025c0085 a0030c0042 a0031c0092 a0032c0114 a0035c0106 a0036c0098 a0045c0056 a0048c0041 a0051c0053 a0054c0048 a0056c0050 a0058c0035 a0074c0080 a0084c0061	a0001c0001t0004 a0002c0022t0004 a0003c0003t0004 others(22): Show a0001c0001t0004 a0002c0022t0004 a0003c0003t0004 a0003c0004t0002 a0003c0004t0004 a0004c0008t0004 a0008c0013t0001 a0008c0032t0001 a0009c0012t0002 a0018c0029t0004 a0023c0018t0004 a0025c0085t0004 a0030c0042t0004 a0031c0092t0004 a0032c0114t0004 a0035c0106t0005 a0036c0098t0001 a0045c0056t0002 a0048c0041t0004 a0051c0053t0004 a0054c0048t0004 a0056c0050t0004 a0058c0035t0002 a0074c0080t0013 a0084c0061t0004	a0001c0001t0004g0057 a0001c0001t0004g0164 a0002c0022t0004g0163 others(27): Show a0001c0001t0004g0057 a0001c0001t0004g0164 a0002c0022t0004g0163 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0002g0035 a0003c0004t0004g0030 a0004c0008t0004g0167 a0008c0013t0001g0111 a0008c0032t0001g0079 a0009c0012t0002g0052 a0009c0012t0002g0094 a0018c0029t0004g0070 a0023c0018t0004g0091 a0025c0085t0004g0008 a0030c0042t0004g0073 a0031c0092t0004g0095 a0032c0114t0004g0082 a0035c0106t0005g0006 a0036c0098t0001g0069 a0045c0056t0002g0019 a0048c0041t0004g0039 a0051c0053t0004g0122 a0054c0048t0004g0159 a0056c0050t0004g0099 a0058c0035t0002g0157 a0074c0080t0013g0158 a0084c0061t0004g0013	30	178	0.1685	-16	c.143 others(39): Show c.14355-16400_14355-16385delGTGTGTGTGTGTGTGT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48633931	CATAGATA others(9): Show CATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp1 HG03139.hp2 others(1): Show HG01074.hp2 HG01433.hp1 HG03139.hp2 NA18944.hp1	a0001 a0075 a0001 a0075	a0001c0001 a0001c0010 a0075c0081 a0001c0001 a0001c0010 a0075c0081	a0001c0001t0001 a0001c0010t0001 a0075c0081t0001 a0001c0001t0001 a0001c0010t0001 a0075c0081t0001	a0001c0001t0001g0004 a0001c0001t0001g0177 a0001c0010t0001g0066 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0177 a0001c0010t0001g0066 a0075c0081t0001g0148	4	178	0.0225	-16	c.148 others(37): Show c.14838-9322_14838-9307delAGATAGATAGATAGAT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104896711	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19066.hp1 NA19082.hp1 HG00609.hp2 NA19066.hp1 NA19082.hp1	a0003 a0006 a0013 a0003 a0006 a0013	a0003c0002 a0006c0004 a0013c0013 a0003c0002 a0006c0004 a0013c0013	a0003c0002t0002 a0006c0004t0004 a0013c0013t0003 a0003c0002t0002 a0006c0004t0004 a0013c0013t0003	a0003c0002t0002g0122 a0006c0004t0004g0227 a0013c0013t0003g0120 a0003c0002t0002g0122 a0006c0004t0004g0227 a0013c0013t0003g0120	3	318	0.0094	-16	c.66+ others(31): Show c.66+6887_66+6902delAAAAAAAAAAAAAAAA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104898549	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01168.hp1 HG01169.hp2 others(45): Show HG00609.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG03942.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18953.hp1 NA19001.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19088.hp1 NA20805.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0015 a0017 a0018 a0025 a0029 a0035 a0038	a0001c0001 a0001c0005 a0002c0011 others(33): Show a0001c0001 a0001c0005 a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0031 a0002c0037 a0002c0078 a0003c0077 a0004c0008 a0004c0042 a0004c0043 a0004c0107 a0004c0113 a0005c0016 a0005c0039 a0005c0071 a0006c0004 a0007c0003 a0008c0006 a0008c0049 a0008c0069 a0009c0018 a0009c0021 a0011c0010 a0011c0055 a0012c0040 a0012c0041 a0015c0020 a0017c0034 a0018c0080 a0025c0083 a0029c0110 a0035c0091 a0038c0068	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0005t0002 a0002c0011t0004 a0002c0015t0031 a0002c0017t0026 a0002c0024t0008 a0002c0031t0001 a0002c0037t0001 a0002c0078t0001 a0003c0077t0005 a0004c0008t0003 a0004c0042t0008 a0004c0043t0003 a0004c0107t0002 a0004c0113t0002 a0005c0016t0001 a0005c0039t0017 a0005c0071t0041 a0006c0004t0002 a0007c0003t0003 a0008c0006t0001 a0008c0006t0007 a0008c0049t0004 a0008c0069t0008 a0009c0018t0038 a0009c0021t0001 a0011c0010t0005 a0011c0055t0001 a0012c0040t0040 a0012c0041t0002 a0015c0020t0001 a0017c0034t0001 a0018c0080t0004 a0025c0083t0001 a0029c0110t0002 a0035c0091t0008 a0038c0068t0044	a0001c0001t0001g0088 a0001c0001t0001g0208 a0001c0001t0003g0089 others(45): Show a0001c0001t0001g0088 a0001c0001t0001g0208 a0001c0001t0003g0089 a0001c0001t0004g0194 a0001c0005t0002g0031 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0015t0031g0084 a0002c0017t0026g0163 a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0031t0001g0152 a0002c0031t0001g0278 a0002c0037t0001g0275 a0002c0078t0001g0216 a0003c0077t0005g0312 a0004c0008t0003g0289 a0004c0042t0008g0083 a0004c0042t0008g0158 a0004c0043t0003g0128 a0004c0043t0003g0136 a0004c0107t0002g0236 a0004c0113t0002g0159 a0005c0016t0001g0049 a0005c0039t0017g0018 a0005c0039t0017g0019 a0005c0071t0041g0311 a0006c0004t0002g0133 a0007c0003t0003g0229 a0008c0006t0001g0087 a0008c0006t0007g0111 a0008c0049t0004g0103 a0008c0069t0008g0096 a0009c0018t0038g0228 a0009c0021t0001g0174 a0011c0010t0005g0255 a0011c0010t0005g0258 a0011c0055t0001g0259 a0012c0040t0040g0055 a0012c0041t0002g0230 a0015c0020t0001g0160 a0017c0034t0001g0153 a0017c0034t0001g0300 a0018c0080t0004g0107 a0025c0083t0001g0313 a0029c0110t0002g0165 a0035c0091t0008g0161 a0038c0068t0044g0272	48	318	0.1509	-16	c.66+ others(31): Show c.66+5049_66+5064delATTTATTTATTTATTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104909607	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0025 a0002c0032t0001g0025	1	318	0.0031	-16	c.-92 others(33): Show c.-92-5852_-92-5837delGTGTGTGTGTGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	1/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2343708	CCTATCTA others(9): Show CCTATCTATCTATCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01169.hp1 others(20): Show HG01081.hp2 HG01109.hp2 HG01169.hp1 HG01243.hp2 HG01258.hp1 HG01496.hp2 HG01943.hp2 HG01952.hp2 HG02015.hp2 HG02135.hp1 HG02280.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02735.hp2 HG03710.hp1 HG03927.hp2 HG04228.hp2 NA18612.hp1 NA18942.hp1 NA18950.hp1 NA19010.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0004t0001 a0001c0018t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0090 others(20): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0127 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0003g0032 a0001c0001t0010g0224 a0001c0002t0001g0045 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0156 a0001c0002t0001g0182 a0001c0002t0001g0246 a0001c0004t0001g0057 a0001c0004t0001g0247 a0001c0018t0001g0097	23	252	0.0913	-16	c.-36 others(27): Show c.-3690_-3675delATAGATAGATAGATAG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding		2981		chr16	TogoVar
ABCA4_chr1_93987834_94126148	94014358	AGAGGAAG others(9): Show AGAGGAAGGAAGGATGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp2 HG03453.hp1 others(3): Show HG01109.hp2 HG02976.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1	a0001 a0002 a0023 others(2): Show a0001 a0002 a0023 a0032 a0036	a0001c0004 a0002c0029 a0023c0036 others(2): Show a0001c0004 a0002c0029 a0023c0036 a0032c0060 a0036c0071	a0001c0004t0001 a0002c0029t0001 a0023c0036t0003 others(2): Show a0001c0004t0001 a0002c0029t0001 a0023c0036t0003 a0032c0060t0001 a0036c0071t0003	a0001c0004t0001g0151 a0002c0029t0001g0237 a0002c0029t0001g0241 others(3): Show a0001c0004t0001g0151 a0002c0029t0001g0237 a0002c0029t0001g0241 a0023c0036t0003g0068 a0032c0060t0001g0011 a0036c0071t0003g0048	6	306	0.0196	-16	c.546 others(33): Show c.5460+169_5460+184delCCATCCTTCCTTCCTC	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	38/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94044108	TCCTTCCT others(9): Show TCCTTCCTTCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(40): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0025 a0026 a0027 a0028 a0030 a0031 a0033 a0034 a0035 a0037 a0038 a0039 a0041 a0042 a0043 a0044 a0045 a0046 a0048 a0049 a0050 a0051	a0001c0001 a0001c0003 a0001c0004 others(85): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0013 a0001c0052 a0001c0055 a0001c0064 a0001c0080 a0001c0081 a0001c0084 a0001c0085 a0001c0107 a0001c0108 a0002c0002 a0002c0010 a0002c0028 a0002c0029 a0002c0094 a0002c0095 a0002c0098 a0003c0008 a0003c0020 a0003c0031 a0003c0033 a0003c0061 a0003c0065 a0003c0067 a0003c0068 a0003c0078 a0003c0082 a0004c0035 a0004c0039 a0004c0044 a0005c0040 a0005c0041 a0005c0043 a0005c0045 a0006c0012 a0006c0054 a0006c0076 a0007c0026 a0007c0027 a0007c0097 a0008c0014 a0008c0024 a0009c0079 a0010c0023 a0010c0069 a0011c0021 a0011c0073 a0012c0016 a0013c0047 a0013c0048 a0014c0050 a0014c0051 a0015c0022 a0016c0019 a0017c0017 a0018c0025 a0019c0089 a0020c0030 a0022c0105 a0025c0101 a0026c0100 a0027c0049 a0028c0074 a0030c0070 a0031c0059 a0033c0062 a0034c0083 a0035c0063 a0037c0058 a0038c0077 a0039c0086 a0041c0088 a0042c0092 a0043c0099 a0044c0093 a0045c0096 a0046c0091 a0048c0038 a0049c0106 a0050c0109 a0051c0110	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(87): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0013t0001 a0001c0052t0001 a0001c0055t0005 a0001c0064t0001 a0001c0080t0001 a0001c0081t0002 a0001c0084t0001 a0001c0085t0002 a0001c0107t0001 a0001c0108t0001 a0002c0002t0001 a0002c0010t0001 a0002c0028t0001 a0002c0029t0001 a0002c0094t0001 a0002c0095t0001 a0002c0098t0001 a0003c0008t0002 a0003c0020t0001 a0003c0031t0004 a0003c0033t0001 a0003c0061t0001 a0003c0065t0002 a0003c0067t0001 a0003c0068t0001 a0003c0078t0004 a0003c0082t0002 a0004c0035t0002 a0004c0039t0001 a0004c0044t0002 a0005c0040t0001 a0005c0041t0001 a0005c0043t0001 a0005c0045t0001 a0006c0012t0001 a0006c0054t0002 a0006c0076t0001 a0007c0026t0001 a0007c0027t0002 a0007c0097t0002 a0008c0014t0001 a0008c0024t0001 a0009c0079t0001 a0010c0023t0001 a0010c0069t0001 a0011c0021t0001 a0011c0073t0001 a0012c0016t0001 a0013c0047t0001 a0013c0048t0001 a0014c0050t0001 a0014c0051t0002 a0015c0022t0001 a0016c0019t0001 a0017c0017t0001 a0018c0025t0001 a0019c0089t0001 a0020c0030t0001 a0022c0105t0001 a0025c0101t0001 a0026c0100t0001 a0027c0049t0001 a0028c0074t0002 a0030c0070t0001 a0031c0059t0001 a0033c0062t0001 a0034c0083t0001 a0035c0063t0001 a0037c0058t0001 a0038c0077t0002 a0039c0086t0001 a0041c0088t0001 a0042c0092t0004 a0043c0099t0001 a0044c0093t0001 a0045c0096t0001 a0046c0091t0001 a0048c0038t0001 a0049c0106t0001 a0050c0109t0001 a0051c0110t0001	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0027 others(260): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0002g0054 a0001c0001t0002g0112 a0001c0003t0001g0021 a0001c0003t0001g0034 a0001c0003t0001g0040 a0001c0003t0001g0072 a0001c0003t0001g0085 a0001c0003t0001g0096 a0001c0003t0001g0107 a0001c0003t0001g0184 a0001c0003t0001g0191 a0001c0003t0001g0229 a0001c0003t0001g0234 a0001c0003t0001g0248 a0001c0003t0001g0263 a0001c0003t0001g0277 a0001c0003t0001g0279 a0001c0003t0001g0281 a0001c0003t0001g0283 a0001c0003t0001g0289 a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0217 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0228 a0001c0004t0001g0236 a0001c0004t0001g0249 a0001c0004t0002g0235 a0001c0005t0001g0030 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0005t0001g0175 a0001c0005t0001g0178 a0001c0005t0001g0231 a0001c0005t0001g0259 a0001c0005t0001g0282 a0001c0006t0001g0039 a0001c0006t0001g0154 a0001c0007t0001g0037 a0001c0007t0001g0064 a0001c0007t0001g0089 a0001c0007t0001g0141 a0001c0007t0001g0150 a0001c0007t0001g0156 a0001c0009t0001g0004 a0001c0009t0001g0103 a0001c0009t0001g0258 a0001c0013t0001g0171 a0001c0013t0001g0197 a0001c0013t0001g0295 a0001c0052t0001g0069 a0001c0055t0005g0302 a0001c0064t0001g0233 a0001c0080t0001g0018 a0001c0081t0002g0153 a0001c0084t0001g0026 a0001c0085t0002g0278 a0001c0107t0001g0009 a0001c0108t0001g0008 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0020 a0002c0002t0001g0028 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0120 a0002c0002t0001g0165 a0002c0002t0001g0180 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0221 a0002c0002t0001g0265 a0002c0002t0001g0286 a0002c0010t0001g0058 a0002c0010t0001g0101 a0002c0010t0001g0121 a0002c0010t0001g0176 a0002c0028t0001g0029 a0002c0028t0001g0031 a0002c0029t0001g0237 a0002c0029t0001g0241 a0002c0094t0001g0079 a0002c0095t0001g0163 a0002c0098t0001g0276 a0003c0008t0002g0065 a0003c0008t0002g0160 a0003c0008t0002g0245 a0003c0008t0002g0246 a0003c0008t0002g0294 a0003c0020t0001g0119 a0003c0020t0001g0291 a0003c0031t0004g0130 a0003c0033t0001g0186 a0003c0061t0001g0032 a0003c0065t0002g0268 a0003c0067t0001g0128 a0003c0068t0001g0108 a0003c0078t0004g0264 a0003c0082t0002g0215 a0004c0035t0002g0052 a0004c0039t0001g0118 a0004c0044t0002g0190 a0005c0040t0001g0125 a0005c0041t0001g0025 a0005c0043t0001g0194 a0005c0045t0001g0203 a0006c0012t0001g0035 a0006c0012t0001g0134 a0006c0012t0001g0149 a0006c0054t0002g0123 a0006c0076t0001g0005 a0007c0026t0001g0299 a0007c0026t0001g0300 a0007c0027t0002g0022 a0007c0027t0002g0042 a0007c0097t0002g0100 a0008c0014t0001g0045 a0008c0014t0001g0084 a0008c0014t0001g0161 a0008c0024t0001g0285 a0008c0024t0001g0287 a0009c0079t0001g0133 a0010c0023t0001g0170 a0010c0023t0001g0212 a0010c0069t0001g0293 a0011c0021t0001g0166 a0011c0021t0001g0244 a0011c0073t0001g0269 a0012c0016t0001g0023 a0012c0016t0001g0152 a0013c0047t0001g0077 a0013c0048t0001g0024 a0014c0050t0001g0012 a0014c0051t0002g0013 a0015c0022t0001g0252 a0015c0022t0001g0267 a0016c0019t0001g0109 a0016c0019t0001g0164 a0017c0017t0001g0062 a0017c0017t0001g0063 a0018c0025t0001g0002 a0019c0089t0001g0297 a0020c0030t0001g0251 a0020c0030t0001g0261 a0022c0105t0001g0124 a0025c0101t0001g0014 a0026c0100t0001g0288 a0027c0049t0001g0240 a0028c0074t0002g0243 a0030c0070t0001g0298 a0031c0059t0001g0066 a0033c0062t0001g0257 a0034c0083t0001g0138 a0035c0063t0001g0033 a0037c0058t0001g0088 a0038c0077t0002g0177 a0039c0086t0001g0135 a0041c0088t0001g0016 a0042c0092t0004g0006 a0043c0099t0001g0254 a0044c0093t0001g0017 a0045c0096t0001g0097 a0046c0091t0001g0266 a0048c0038t0001g0199 a0049c0106t0001g0205 a0050c0109t0001g0262 a0051c0110t0001g0301	267	306	0.8726	-16	c.305 others(33): Show c.3050+489_3050+504delGAGGAAGGAAGGAAGG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	20/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116968	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG06807.hp2 others(1): Show HG02109.hp2 HG02886.hp2 HG06807.hp2 NA19007.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0015 a0004c0011 a0002c0002 a0003c0015 a0004c0011	a0002c0002t0001 a0003c0015t0001 a0004c0011t0002 a0002c0002t0001 a0003c0015t0001 a0004c0011t0002	a0002c0002t0001g0115 a0003c0015t0001g0187 a0003c0015t0001g0188 others(1): Show a0002c0002t0001g0115 a0003c0015t0001g0187 a0003c0015t0001g0188 a0004c0011t0002g0127	4	306	0.0131	-16	c.67- others(31): Show c.67-3918_67-3903delAAGAAAGAAAGAAAGA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69282878	AGGAATTA others(9): Show AGGAATTATTCTTCATT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	350	0.0029	-16	c.239 others(35): Show c.2392+1059_2392+1074delAATGAAGAATAATTCC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	18/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69293870	GTGCGTGT others(9): Show GTGCGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp2 HG01261.hp2 others(12): Show HG00323.hp1 HG01175.hp2 HG01261.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02074.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02735.hp2 NA18957.hp2 NA19058.hp1 NA19062.hp1 NA19076.hp1	a0002 a0013 a0002 a0013	a0002c0001 a0013c0019 a0002c0001 a0013c0019	a0002c0001t0002 a0002c0001t0031 a0002c0001t0032 others(1): Show a0002c0001t0002 a0002c0001t0031 a0002c0001t0032 a0013c0019t0002	a0002c0001t0002g0013 a0002c0001t0002g0213 a0002c0001t0002g0218 others(12): Show a0002c0001t0002g0013 a0002c0001t0002g0213 a0002c0001t0002g0218 a0002c0001t0002g0231 a0002c0001t0002g0240 a0002c0001t0002g0241 a0002c0001t0002g0294 a0002c0001t0002g0304 a0002c0001t0002g0305 a0002c0001t0002g0306 a0002c0001t0002g0310 a0002c0001t0002g0319 a0002c0001t0031g0313 a0002c0001t0032g0347 a0013c0019t0002g0252	15	350	0.0429	-16	c.149 others(33): Show c.1495+769_1495+784delAACACACACACACGCA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298269	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG03041.hp2 others(1): Show HG02615.hp1 HG02647.hp2 HG03041.hp2 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0010 a0005c0007 a0001c0010 a0005c0007	a0001c0010t0010 a0005c0007t0006 a0001c0010t0010 a0005c0007t0006	a0001c0010t0010g0332 a0001c0010t0010g0335 a0005c0007t0006g0341 others(1): Show a0001c0010t0010g0332 a0001c0010t0010g0335 a0005c0007t0006g0341 a0005c0007t0006g0346	4	350	0.0114	-16	c.126 others(33): Show c.1268-926_1268-911delCCCTTCCTTCCTTCCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69082328	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp1 HG02145.hp2 HG02970.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0165 a0006c0013t0001g0249 a0006c0013t0001g0165 a0006c0013t0001g0249	2	326	0.0061	-16	c.461 others(33): Show c.4616+529_4616+544delGTGTGTGTGTGTGTGT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	36/38			chr17	TogoVar

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