Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AATK_chr17_81112295_81171221	81119229	T T	TGGGGCCG others(9): Show TGGGGCCGGGAAGGAGC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02451.hp2 HG03041.hp1 others(9): Show HG01361.hp2 HG02451.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03688.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0066 a0003c0023 a0005c0006 others(3): Show a0001c0066 a0003c0023 a0005c0006 a0005c0033 a0005c0059 a0006c0012	a0001c0066t0001 a0003c0023t0001 a0005c0006t0003 others(4): Show a0001c0066t0001 a0003c0023t0001 a0005c0006t0003 a0005c0006t0014 a0005c0033t0020 a0005c0059t0003 a0006c0012t0010	a0001c0066t0001g0188 a0003c0023t0001g0172 a0005c0006t0003g0018 others(9): Show a0001c0066t0001g0188 a0003c0023t0001g0172 a0005c0006t0003g0018 a0005c0006t0003g0115 a0005c0006t0003g0263 a0005c0006t0003g0295 a0005c0006t0003g0328 a0005c0006t0014g0293 a0005c0033t0020g0324 a0005c0059t0003g0233 a0006c0012t0010g0106 a0006c0012t0010g0250	12	368	0.0326	16	c.408 others(33): Show c.4084+135_4084+150dupGCTCCTTCCCGGCCCC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81119342	C C	CCGCGTGC others(9): Show CCGCGTGCCCTACCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0031 a0032 a0033 a0034 a0035 a0037	a0001c0001 a0001c0004 a0001c0011 others(60): Show a0001c0001 a0001c0004 a0001c0011 a0001c0040 a0001c0066 a0002c0002 a0002c0032 a0002c0057 a0002c0061 a0002c0064 a0002c0073 a0002c0075 a0003c0003 a0003c0007 a0003c0009 a0003c0020 a0003c0023 a0003c0024 a0003c0027 a0003c0047 a0004c0005 a0004c0029 a0004c0035 a0004c0062 a0005c0006 a0005c0021 a0005c0033 a0005c0059 a0006c0012 a0006c0013 a0006c0042 a0006c0056 a0007c0008 a0007c0031 a0007c0071 a0009c0019 a0009c0025 a0009c0065 a0010c0014 a0010c0030 a0011c0018 a0012c0016 a0014c0028 a0015c0022 a0016c0026 a0017c0074 a0018c0072 a0019c0067 a0020c0068 a0021c0055 a0022c0054 a0023c0053 a0024c0052 a0025c0070 a0027c0048 a0028c0051 a0029c0050 a0031c0049 a0032c0041 a0033c0039 a0034c0038 a0035c0063 a0037c0036	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(76): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0004t0001 a0001c0011t0001 a0001c0040t0001 a0001c0066t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0017 a0002c0002t0018 a0002c0032t0001 a0002c0057t0001 a0002c0061t0001 a0002c0064t0001 a0002c0073t0007 a0002c0075t0001 a0003c0003t0001 a0003c0007t0001 a0003c0007t0019 a0003c0009t0001 a0003c0009t0005 a0003c0020t0001 a0003c0023t0001 a0003c0024t0001 a0003c0027t0001 a0003c0047t0001 a0004c0005t0001 a0004c0005t0005 a0004c0029t0001 a0004c0035t0001 a0004c0062t0001 a0005c0006t0003 a0005c0006t0014 a0005c0006t0021 a0005c0021t0001 a0005c0033t0020 a0005c0059t0003 a0006c0012t0001 a0006c0012t0010 a0006c0013t0001 a0006c0042t0011 a0006c0056t0011 a0007c0008t0001 a0007c0008t0015 a0007c0031t0001 a0007c0071t0001 a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 a0010c0014t0001 a0010c0030t0001 a0011c0018t0001 a0012c0016t0001 a0014c0028t0001 a0015c0022t0012 a0016c0026t0001 a0017c0074t0001 a0018c0072t0001 a0019c0067t0004 a0020c0068t0004 a0021c0055t0001 a0022c0054t0001 a0023c0053t0006 a0024c0052t0001 a0025c0070t0004 a0027c0048t0004 a0028c0051t0001 a0029c0050t0001 a0031c0049t0001 a0032c0041t0006 a0033c0039t0001 a0034c0038t0001 a0035c0063t0001 a0037c0036t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(274): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0001t0013g0216 a0001c0001t0016g0291 a0001c0001t0022g0346 a0001c0004t0001g0053 a0001c0011t0001g0198 a0001c0011t0001g0249 a0001c0011t0001g0267 a0001c0011t0001g0272 a0001c0011t0001g0277 a0001c0040t0001g0108 a0001c0066t0001g0188 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 a0003c0003t0001g0195 a0003c0007t0001g0121 a0003c0007t0001g0190 a0003c0007t0001g0235 a0003c0007t0001g0262 a0003c0007t0001g0268 a0003c0007t0001g0271 a0003c0007t0001g0276 a0003c0007t0001g0278 a0003c0007t0001g0280 a0003c0007t0001g0286 a0003c0007t0001g0311 a0003c0007t0001g0318 a0003c0007t0001g0319 a0003c0007t0019g0321 a0003c0009t0001g0046 a0003c0009t0001g0062 a0003c0009t0001g0158 a0003c0009t0001g0245 a0003c0009t0001g0247 a0003c0009t0001g0248 a0003c0009t0001g0257 a0003c0009t0001g0326 a0003c0009t0005g0027 a0003c0020t0001g0008 a0003c0023t0001g0172 a0003c0023t0001g0202 a0003c0024t0001g0082 a0003c0024t0001g0191 a0003c0027t0001g0281 a0003c0027t0001g0323 a0003c0047t0001g0303 a0004c0005t0001g0015 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0059 a0004c0005t0001g0065 a0004c0005t0001g0077 a0004c0005t0001g0086 a0004c0005t0001g0113 a0004c0005t0001g0122 a0004c0005t0001g0180 a0004c0005t0001g0181 a0004c0005t0001g0253 a0004c0005t0001g0258 a0004c0005t0001g0317 a0004c0005t0005g0024 a0004c0029t0001g0021 a0004c0035t0001g0114 a0004c0062t0001g0200 a0005c0006t0003g0018 a0005c0006t0003g0115 a0005c0006t0003g0187 a0005c0006t0003g0230 a0005c0006t0003g0232 a0005c0006t0003g0263 a0005c0006t0003g0294 a0005c0006t0003g0295 a0005c0006t0003g0300 a0005c0006t0003g0301 a0005c0006t0003g0328 a0005c0006t0014g0293 a0005c0006t0021g0345 a0005c0021t0001g0206 a0005c0021t0001g0337 a0005c0033t0020g0324 a0005c0059t0003g0233 a0006c0012t0001g0146 a0006c0012t0001g0226 a0006c0012t0010g0106 a0006c0012t0010g0250 a0006c0013t0001g0013 a0006c0013t0001g0205 a0006c0013t0001g0224 a0006c0042t0011g0335 a0006c0056t0011g0332 a0007c0008t0001g0068 a0007c0008t0001g0091 a0007c0008t0001g0118 a0007c0008t0001g0130 a0007c0008t0001g0215 a0007c0008t0001g0227 a0007c0008t0001g0229 a0007c0008t0001g0320 a0007c0008t0015g0201 a0007c0031t0001g0261 a0007c0071t0001g0204 a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 a0009c0025t0004g0334 a0009c0025t0004g0336 a0009c0065t0004g0236 a0010c0014t0001g0020 a0010c0014t0001g0251 a0010c0030t0001g0289 a0011c0018t0001g0072 a0011c0018t0001g0080 a0011c0018t0001g0090 a0012c0016t0001g0168 a0012c0016t0001g0170 a0012c0016t0001g0184 a0014c0028t0001g0342 a0014c0028t0001g0343 a0015c0022t0012g0246 a0015c0022t0012g0266 a0016c0026t0001g0011 a0017c0074t0001g0182 a0018c0072t0001g0322 a0019c0067t0004g0333 a0020c0068t0004g0231 a0021c0055t0001g0099 a0022c0054t0001g0225 a0023c0053t0006g0228 a0024c0052t0001g0165 a0025c0070t0004g0183 a0027c0048t0004g0310 a0028c0051t0001g0029 a0029c0050t0001g0287 a0031c0049t0001g0067 a0032c0041t0006g0341 a0033c0039t0001g0265 a0034c0038t0001g0169 a0035c0063t0001g0111 a0037c0036t0001g0079	293	368	0.7962	16	c.408 others(31): Show c.4084+37_4084+38insAGAGGTAGGGCACGCG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81140708	G G	GGTGAGAC others(9): Show GGTGAGACCGTGGGGCC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	368	0.0027	16	c.56- others(31): Show c.56-6208_56-6207insGGCCCCACGGTCTCAC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81167338	C C	CCACTCAT others(9): Show CCACTCATTCATTCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG03041.hp1 HG02895.hp1 HG03041.hp1	a0005 a0015 a0005 a0015	a0005c0006 a0015c0022 a0005c0006 a0015c0022	a0005c0006t0003 a0015c0022t0012 a0005c0006t0003 a0015c0022t0012	a0005c0006t0003g0263 a0015c0022t0012g0266 a0005c0006t0003g0263 a0015c0022t0012g0266	2	368	0.0054	16	c.-13 others(27): Show c.-1362_-1347dupAGTGAATGAATGAGTG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding		1118		chr17	TogoVar
ABAT_chr16_8669617_8789570	8673396	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	362	0.0028	16	c.-13 others(27): Show c.-1357_-1356insTGTGTGTGTGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding		1220		chr16	TogoVar
ABAT_chr16_8669617_8789570	8707353	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18522.hp1 NA20129.hp2 HG02145.hp2 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0006 a0001c0001 a0002c0004 a0002c0006	a0001c0001t0003 a0002c0004t0007 a0002c0006t0030 a0001c0001t0003 a0002c0004t0007 a0002c0006t0030	a0001c0001t0003g0039 a0002c0004t0007g0347 a0002c0006t0030g0008 a0001c0001t0003g0039 a0002c0004t0007g0347 a0002c0006t0030g0008	3	362	0.0083	16	c.-41 others(35): Show c.-41-28344_-41-28329dupTTTTTTTTTTTTTTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGGG others(9): Show AGAGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG01106.hp1 others(5): Show HG00140.hp2 HG00609.hp2 HG01106.hp1 NA19007.hp2 NA19055.hp2 NA19087.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0004t0001 a0002c0004t0003 a0002c0005t0001 a0002c0006t0001	a0001c0001t0001g0134 a0001c0001t0002g0137 a0001c0001t0003g0039 others(5): Show a0001c0001t0001g0134 a0001c0001t0002g0137 a0001c0001t0003g0039 a0002c0002t0001g0209 a0002c0004t0001g0142 a0002c0004t0003g0200 a0002c0005t0001g0222 a0002c0006t0001g0199	8	362	0.0221	16	c.-41 others(35): Show c.-41-24969_-41-24968insAGGGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8711810	G G	GGATGGAT others(9): Show GGATGGATGGATGGATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(159): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03130.hp1 HG03239.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0011 others(8): Show a0001c0001 a0001c0003 a0001c0011 a0001c0013 a0001c0022 a0001c0023 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0042 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0015 a0001c0003t0035 a0001c0003t0036 a0001c0003t0044 a0001c0011t0001 a0001c0011t0002 a0001c0013t0002 a0001c0022t0002 a0001c0023t0024 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0017 a0002c0002t0027 a0002c0002t0029 a0002c0002t0032 a0002c0002t0038 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0008 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0015 a0002c0005t0016 a0002c0006t0001 a0002c0006t0002 a0005c0019t0002	a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0090 others(159): Show a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0001g0253 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0283 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0116 a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0248 a0001c0001t0002g0256 a0001c0001t0002g0278 a0001c0001t0003g0077 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0003g0171 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0001t0004g0080 a0001c0001t0004g0096 a0001c0001t0004g0117 a0001c0001t0004g0273 a0001c0001t0005g0051 a0001c0001t0005g0063 a0001c0001t0005g0127 a0001c0001t0009g0284 a0001c0001t0012g0251 a0001c0001t0022g0037 a0001c0001t0025g0264 a0001c0001t0028g0061 a0001c0001t0042g0087 a0001c0003t0001g0089 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0097 a0001c0003t0001g0240 a0001c0003t0001g0252 a0001c0003t0002g0060 a0001c0003t0002g0189 a0001c0003t0002g0249 a0001c0003t0003g0064 a0001c0003t0003g0083 a0001c0003t0003g0088 a0001c0003t0003g0100 a0001c0003t0003g0107 a0001c0003t0003g0114 a0001c0003t0003g0119 a0001c0003t0003g0120 a0001c0003t0003g0126 a0001c0003t0003g0133 a0001c0003t0003g0136 a0001c0003t0003g0147 a0001c0003t0003g0155 a0001c0003t0003g0167 a0001c0003t0003g0175 a0001c0003t0003g0187 a0001c0003t0003g0224 a0001c0003t0003g0263 a0001c0003t0003g0267 a0001c0003t0003g0304 a0001c0003t0004g0103 a0001c0003t0004g0123 a0001c0003t0004g0279 a0001c0003t0015g0130 a0001c0003t0035g0266 a0001c0003t0036g0158 a0001c0003t0044g0261 a0001c0011t0001g0206 a0001c0011t0002g0205 a0001c0013t0002g0203 a0001c0013t0002g0204 a0001c0022t0002g0262 a0001c0023t0024g0281 a0002c0002t0001g0021 a0002c0002t0001g0033 a0002c0002t0001g0140 a0002c0002t0001g0170 a0002c0002t0001g0209 a0002c0002t0002g0018 a0002c0002t0002g0073 a0002c0002t0002g0150 a0002c0002t0002g0152 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0003g0094 a0002c0002t0004g0074 a0002c0002t0004g0079 a0002c0002t0004g0105 a0002c0002t0006g0169 a0002c0002t0008g0106 a0002c0002t0008g0168 a0002c0002t0009g0086 a0002c0002t0009g0192 a0002c0002t0009g0193 a0002c0002t0017g0188 a0002c0002t0027g0178 a0002c0002t0029g0208 a0002c0002t0032g0157 a0002c0002t0038g0166 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0223 a0002c0004t0001g0265 a0002c0004t0001g0282 a0002c0004t0002g0174 a0002c0004t0002g0315 a0002c0004t0003g0032 a0002c0004t0003g0068 a0002c0004t0003g0082 a0002c0004t0003g0172 a0002c0004t0003g0181 a0002c0004t0003g0196 a0002c0004t0003g0198 a0002c0004t0003g0200 a0002c0004t0004g0115 a0002c0004t0008g0176 a0002c0005t0001g0062 a0002c0005t0001g0214 a0002c0005t0001g0215 a0002c0005t0001g0222 a0002c0005t0001g0225 a0002c0005t0003g0075 a0002c0005t0003g0132 a0002c0005t0003g0180 a0002c0005t0004g0186 a0002c0005t0004g0194 a0002c0005t0004g0268 a0002c0005t0015g0084 a0002c0005t0016g0072 a0002c0006t0001g0124 a0002c0006t0001g0183 a0002c0006t0001g0199 a0002c0006t0002g0104 a0002c0006t0002g0118 a0002c0006t0002g0161 a0005c0019t0002g0164	162	362	0.4475	16	c.-41 others(35): Show c.-41-23874_-41-23873insAGATGGATGGATGGAT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737941	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	362	0.0028	16	c.70+ others(31): Show c.70+2139_70+2140insGAAGGAAGGAAGGAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(9): Show GAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18906.hp2 HG03710.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0047 a0001c0003t0003 a0001c0001t0047 a0001c0003t0003	a0001c0001t0047g0314 a0001c0003t0003g0350 a0001c0001t0047g0314 a0001c0003t0003g0350	2	362	0.0055	16	c.70+ others(31): Show c.70+2181_70+2182insAGGAAGGAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	362	0.0028	16	c.70+ others(31): Show c.70+2181_70+2182insAGGAAGGAAGGAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01943.hp1 HG02015.hp2 others(3): Show HG00673.hp2 HG01943.hp1 HG02015.hp2 HG02257.hp1 HG02698.hp2 NA18973.hp2	a0002 a0005 a0002 a0005	a0002c0005 a0002c0006 a0002c0007 others(1): Show a0002c0005 a0002c0006 a0002c0007 a0005c0019	a0002c0005t0001 a0002c0005t0004 a0002c0006t0001 others(3): Show a0002c0005t0001 a0002c0005t0004 a0002c0006t0001 a0002c0006t0005 a0002c0007t0018 a0005c0019t0002	a0002c0005t0001g0237 a0002c0005t0004g0268 a0002c0006t0001g0124 others(3): Show a0002c0005t0001g0237 a0002c0005t0004g0268 a0002c0006t0001g0124 a0002c0006t0005g0129 a0002c0007t0018g0317 a0005c0019t0002g0164	6	362	0.0166	16	c.71- others(31): Show c.71-2571_71-2556dupTATATATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743441	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01192.hp2 others(6): Show HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01891.hp2 HG02055.hp1 HG02280.hp1 HG02622.hp1 HG03195.hp2 HG03516.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0009 a0003c0010 a0002c0002 a0002c0009 a0003c0010	a0002c0002t0001 a0002c0002t0006 a0002c0002t0008 others(4): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0009t0002 a0003c0010t0001 a0003c0010t0010	a0002c0002t0001g0334 a0002c0002t0006g0043 a0002c0002t0006g0337 others(6): Show a0002c0002t0001g0334 a0002c0002t0006g0043 a0002c0002t0006g0337 a0002c0002t0008g0168 a0002c0002t0010g0307 a0002c0009t0002g0003 a0003c0010t0001g0245 a0003c0010t0010g0342 a0003c0010t0010g0344	9	362	0.0249	16	c.71- others(31): Show c.71-2556_71-2555insTATATATATATGTATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0046 a0002c0018t0046	a0002c0018t0046g0336 a0002c0018t0046g0336	1	362	0.0028	16	c.71- others(31): Show c.71-2556_71-2555insTATATATATATATACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8754662	A A	ATTTCTTT others(9): Show ATTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0340 a0002c0009t0002g0340	1	362	0.0028	16	c.317 others(33): Show c.317-3092_317-3091insCTTTCTTTCTTTCTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01433.hp1 HG03669.hp1 others(1): Show HG00438.hp2 HG01433.hp1 HG03669.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0005 a0001c0003 a0002c0004 a0002c0005	a0001c0003t0003 a0002c0004t0001 a0002c0004t0003 others(1): Show a0001c0003t0003 a0002c0004t0001 a0002c0004t0003 a0002c0005t0003	a0001c0003t0003g0167 a0002c0004t0001g0128 a0002c0004t0003g0200 others(1): Show a0001c0003t0003g0167 a0002c0004t0001g0128 a0002c0004t0003g0200 a0002c0005t0003g0070	4	362	0.0111	16	c.954 others(31): Show c.954+216_954+231dupCACACACACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CACATACA others(9): Show CACATACATATACATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01109.hp2 others(24): Show HG00639.hp1 HG01099.hp2 HG01109.hp2 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp2	a0005 a0006 a0005 a0006	a0005c0005 a0006c0007 a0006c0016 a0005c0005 a0006c0007 a0006c0016	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 others(2): Show a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004	a0005c0005t0004g0184 a0005c0005t0004g0199 a0005c0005t0004g0213 others(24): 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	27	348	0.0776	16	c.336 others(35): Show c.3363+1235_3363+1236insATATGTATATGTATGT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(9): Show CATATACATATACATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01243.hp2 others(20): Show HG00099.hp2 HG00733.hp2 HG01243.hp2 HG01257.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG02040.hp2 HG02071.hp2 HG02145.hp2 HG02148.hp2 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02976.hp2 HG03017.hp2 HG03490.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 NA18971.hp1 NA19060.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0026	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0026c0019	a0002c0002t0001 a0003c0003t0001 a0004c0004t0003 others(1): Show a0002c0002t0001 a0003c0003t0001 a0004c0004t0003 a0026c0019t0001	a0002c0002t0001g0051 a0003c0003t0001g0112 a0003c0003t0001g0113 others(19): Show a0002c0002t0001g0051 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0127 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0134 a0003c0003t0001g0137 a0003c0003t0001g0198 a0003c0003t0001g0205 a0003c0003t0001g0249 a0003c0003t0001g0302 a0004c0004t0003g0005 a0004c0004t0003g0007 a0004c0004t0003g0074 a0004c0004t0003g0207 a0004c0004t0003g0233 a0004c0004t0003g0243 a0004c0004t0003g0247 a0004c0004t0003g0255 a0004c0004t0003g0304 a0026c0019t0001g0204	23	348	0.0661	16	c.336 others(35): Show c.3363+1235_3363+1236insATATGTATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162840	T T	TATACATA others(9): Show TATACATATACATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01952.hp1 HG01978.hp1 others(4): Show HG01123.hp1 HG01952.hp1 HG01978.hp1 HG02273.hp2 HG02300.hp1 HG02698.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0115 others(4): Show a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0115 a0002c0002t0001g0142 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268	7	348	0.0201	16	c.336 others(35): Show c.3363+1233_3363+1234insGTATATGTATATGTAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69227114	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(18): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG01123.hp1 HG01261.hp2 HG02074.hp1 HG02523.hp1 HG03139.hp2 HG04199.hp2 NA18951.hp1 NA18956.hp1 NA18962.hp2 NA18981.hp2 NA18987.hp2 NA19063.hp1 NA19070.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0020	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0020c0031	a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0020c0031t0001	a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 others(18): Show a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0307 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0306 a0020c0031t0001g0069	21	348	0.0603	16	c.-17 others(31): Show c.-172+15_-172+30dupATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	2/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATACATA others(9): Show CATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0091 a0001c0004t0001g0091	1	198	0.0051	16	c.382 others(33): Show c.3829+141_3829+142insATATATATATATGTAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02451.hp2 HG02486.hp1	a0003 a0004 a0003 a0004	a0003c0014 a0004c0018 a0003c0014 a0004c0018	a0003c0014t0006 a0004c0018t0021 a0003c0014t0006 a0004c0018t0021	a0003c0014t0006g0102 a0004c0018t0021g0082 a0003c0014t0006g0102 a0004c0018t0021g0082	2	198	0.0101	16	c.382 others(33): Show c.3829+126_3829+141dupATATATATATATATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989210	A A	ATATATAT others(9): Show ATATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0034	1	198	0.0051	16	c.382 others(33): Show c.3829+118_3829+119insATATATATTATATATA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215016582	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp2 HG00423.hp1 HG02015.hp2	a0001 a0015 a0001 a0015	a0001c0004 a0015c0045 a0001c0004 a0015c0045	a0001c0004t0001 a0015c0045t0002 a0001c0004t0001 a0015c0045t0002	a0001c0004t0001g0160 a0015c0045t0002g0162 a0001c0004t0001g0160 a0015c0045t0002g0162	2	198	0.0101	16	c.178 others(33): Show c.1783-935_1783-920dupTTTTTTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215051609	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0062 a0001c0004t0003g0062	1	198	0.0051	16	c.507 others(31): Show c.507+862_507+877dupACACACACACACACAC	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	5/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215065297	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0019 a0019	a0019c0047 a0019c0047	a0019c0047t0003 a0019c0047t0003	a0019c0047t0003g0052 a0019c0047t0003g0052	1	198	0.0051	16	c.164 others(33): Show c.164-1094_164-1079dupTTTTTTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215087487	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0003 a0001c0068t0003	a0001c0068t0003g0016 a0001c0068t0003g0016	1	198	0.0051	16	c.164 others(35): Show c.164-23284_164-23269dupACACACACACACACAC	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134548	G G	GTATGTAT others(9): Show GTATGTATATGCGTATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0019 a0001c0022t0019	a0001c0022t0019g0014 a0001c0022t0019g0014	1	198	0.0051	16	c.69+ others(31): Show c.69+3591_69+3592insTATACGCATATACATA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48225109	G G	GTGCCTGC others(9): Show GTGCCTGCCTGCCTGCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01192.hp1 HG01981.hp1 others(19): Show HG00544.hp1 HG01192.hp1 HG01981.hp1 HG02055.hp2 HG02132.hp1 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG02895.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03540.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18961.hp2 NA18986.hp2 NA18998.hp1 NA19030.hp2 NA19083.hp1	a0001 a0002 a0005 others(14): Show a0001 a0002 a0005 a0006 a0007 a0014 a0018 a0063 a0066 a0068 a0069 a0070 a0071 a0072 a0076 a0077 a0086	a0001c0001 a0002c0002 a0005c0024 others(16): Show a0001c0001 a0002c0002 a0005c0024 a0006c0007 a0006c0023 a0007c0011 a0007c0101 a0014c0019 a0018c0029 a0063c0071 a0066c0062 a0068c0067 a0069c0066 a0070c0064 a0071c0038 a0072c0069 a0076c0083 a0077c0082 a0086c0059	a0001c0001t0001 a0002c0002t0004 a0005c0024t0003 others(16): Show a0001c0001t0001 a0002c0002t0004 a0005c0024t0003 a0006c0007t0003 a0006c0023t0003 a0007c0011t0003 a0007c0101t0003 a0014c0019t0002 a0018c0029t0001 a0063c0071t0005 a0066c0062t0003 a0068c0067t0009 a0069c0066t0001 a0070c0064t0001 a0071c0038t0005 a0072c0069t0001 a0076c0083t0003 a0077c0082t0005 a0086c0059t0003	a0001c0001t0001g0133 a0002c0002t0004g0106 a0002c0002t0004g0140 others(19): Show a0001c0001t0001g0133 a0002c0002t0004g0106 a0002c0002t0004g0140 a0005c0024t0003g0107 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0007c0011t0003g0130 a0007c0101t0003g0139 a0014c0019t0002g0136 a0014c0019t0002g0175 a0018c0029t0001g0134 a0063c0071t0005g0105 a0066c0062t0003g0141 a0068c0067t0009g0142 a0069c0066t0001g0143 a0070c0064t0001g0127 a0071c0038t0005g0135 a0072c0069t0001g0144 a0076c0083t0003g0145 a0077c0082t0005g0146 a0086c0059t0003g0172	22	178	0.1236	16	c.469 others(33): Show c.469-2139_469-2124dupGCCTGCCTGCCTGCCT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48225135	G G	GCCTTCCT others(9): Show GCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01993.hp2 HG02071.hp2 others(6): Show HG00735.hp2 HG01993.hp2 HG02071.hp2 HG02132.hp1 HG03041.hp1 HG03669.hp1 NA18906.hp2 NA19030.hp1 NA19091.hp2	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0010 a0014 a0018 a0076	a0001c0001 a0001c0103 a0002c0002 others(6): Show a0001c0001 a0001c0103 a0002c0002 a0002c0065 a0007c0102 a0010c0033 a0014c0019 a0018c0029 a0076c0083	a0001c0001t0001 a0001c0103t0006 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0103t0006 a0002c0002t0001 a0002c0065t0006 a0007c0102t0001 a0010c0033t0003 a0014c0019t0002 a0018c0029t0004 a0076c0083t0003	a0001c0001t0001g0133 a0001c0103t0006g0059 a0002c0002t0001g0131 others(6): Show a0001c0001t0001g0133 a0001c0103t0006g0059 a0002c0002t0001g0131 a0002c0065t0006g0128 a0007c0102t0001g0020 a0010c0033t0003g0060 a0014c0019t0002g0136 a0018c0029t0004g0070 a0076c0083t0003g0145	9	178	0.0506	16	c.469 others(33): Show c.469-2085_469-2070dupCTTCCTTCCTTCCTTC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03834.hp2 NA18987.hp2 HG01192.hp2 HG03834.hp2 NA18987.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0001c0010 a0019c0030 a0001c0001 a0001c0010 a0019c0030	a0001c0001t0002 a0001c0010t0002 a0019c0030t0003 a0001c0001t0002 a0001c0010t0002 a0019c0030t0003	a0001c0001t0002g0054 a0001c0010t0002g0074 a0019c0030t0003g0038 a0001c0001t0002g0054 a0001c0010t0002g0074 a0019c0030t0003g0038	3	178	0.0169	16	c.764 others(33): Show c.764-1869_764-1854dupTTTTTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48330365	C C	CCATCCAT others(9): Show CCATCCATCCATCCATT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0116 a0004c0009t0001g0116	1	178	0.0056	16	c.100 others(37): Show c.10000-5042_10000-5027dupTTCATCCATCCATCCA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	27/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48358238	A A	AGGGGAGG others(9): Show AGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0066 a0066	a0066c0062 a0066c0062	a0066c0062t0003 a0066c0062t0003	a0066c0062t0003g0141 a0066c0062t0003g0141	1	178	0.0056	16	c.106 others(37): Show c.10688+5755_10688+5770dupGAGGGGAGGGGAGGGG	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48401744	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01123.hp1 others(11): Show HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01192.hp2 HG01981.hp2 HG02109.hp1 HG03041.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp2 NA18977.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0011 a0014 a0016 a0026 a0054 a0081	a0001c0010 a0003c0003 a0005c0005 others(7): Show a0001c0010 a0003c0003 a0005c0005 a0005c0024 a0011c0044 a0014c0047 a0016c0094 a0026c0026 a0054c0048 a0081c0086	a0001c0010t0002 a0003c0003t0004 a0005c0005t0003 others(8): Show a0001c0010t0002 a0003c0003t0004 a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 a0011c0044t0001 a0014c0047t0001 a0016c0094t0002 a0026c0026t0001 a0054c0048t0004 a0081c0086t0009	a0001c0010t0002g0074 a0003c0003t0004g0028 a0003c0003t0004g0029 others(11): Show a0001c0010t0002g0074 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0005c0005t0003g0132 a0005c0024t0001g0018 a0005c0024t0003g0107 a0011c0044t0001g0096 a0014c0047t0001g0155 a0016c0094t0002g0078 a0026c0026t0001g0080 a0054c0048t0004g0159 a0081c0086t0009g0160	14	178	0.0787	16	c.118 others(37): Show c.11874-1922_11874-1907dupACACACACACACACAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48633904	G G	GTAGATAG others(9): Show GTAGATAGATACATAGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0057 a0057	a0057c0036 a0057c0036	a0057c0036t0007 a0057c0036t0007	a0057c0036t0007g0083 a0057c0036t0007g0083	1	178	0.0056	16	c.148 others(37): Show c.14838-9357_14838-9342dupCATAGATAGATAGATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48633931	C C	CATAGATA others(9): Show CATAGATAGATACATAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18992.hp1 NA18959.hp2 NA18992.hp1	a0006 a0011 a0006 a0011	a0006c0007 a0011c0017 a0006c0007 a0011c0017	a0006c0007t0002 a0011c0017t0002 a0006c0007t0002 a0011c0017t0002	a0006c0007t0002g0129 a0011c0017t0002g0048 a0006c0007t0002g0129 a0011c0017t0002g0048	2	178	0.0112	16	c.148 others(37): Show c.14838-9346_14838-9345insCATAGATAGATAGATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48637381	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01975.hp1 HG01993.hp1 others(12): Show HG01243.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02523.hp2 HG02622.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 NA18942.hp1 NA18971.hp2 NA18998.hp1 NA19010.hp2 NA19091.hp1 NA20300.hp2	a0003 a0005 a0007 others(10): Show a0003 a0005 a0007 a0010 a0013 a0020 a0021 a0022 a0024 a0031 a0062 a0066 a0074	a0003c0004 a0005c0005 a0007c0011 others(10): Show a0003c0004 a0005c0005 a0007c0011 a0010c0033 a0013c0006 a0020c0034 a0021c0028 a0022c0020 a0024c0027 a0031c0092 a0062c0075 a0066c0062 a0074c0080	a0003c0004t0004 a0005c0005t0003 a0007c0011t0003 others(10): Show a0003c0004t0004 a0005c0005t0003 a0007c0011t0003 a0010c0033t0003 a0013c0006t0001 a0020c0034t0003 a0021c0028t0003 a0022c0020t0005 a0024c0027t0001 a0031c0092t0004 a0062c0075t0005 a0066c0062t0003 a0074c0080t0013	a0003c0004t0004g0030 a0005c0005t0003g0090 a0007c0011t0003g0051 others(12): Show a0003c0004t0004g0030 a0005c0005t0003g0090 a0007c0011t0003g0051 a0010c0033t0003g0060 a0010c0033t0003g0071 a0013c0006t0001g0002 a0013c0006t0001g0017 a0020c0034t0003g0117 a0021c0028t0003g0005 a0022c0020t0005g0123 a0024c0027t0001g0161 a0031c0092t0004g0095 a0062c0075t0005g0023 a0066c0062t0003g0141 a0074c0080t0013g0158	15	178	0.0843	16	c.148 others(37): Show c.14838-5897_14838-5882dupAAAAAAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48637388	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0073 a0073	a0073c0078 a0073c0078	a0073c0078t0003 a0073c0078t0003	a0073c0078t0003g0170 a0073c0078t0003g0170	1	178	0.0056	16	c.148 others(37): Show c.14838-5885_14838-5884insCAAAAAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104799394	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18982.hp2 NA19030.hp1 HG00423.hp1 NA18982.hp2 NA19030.hp1	a0004 a0005 a0016 a0004 a0005 a0016	a0004c0066 a0005c0014 a0016c0019 a0004c0066 a0005c0014 a0016c0019	a0004c0066t0008 a0005c0014t0006 a0016c0019t0006 a0004c0066t0008 a0005c0014t0006 a0016c0019t0006	a0004c0066t0008g0007 a0005c0014t0006g0052 a0016c0019t0006g0250 a0004c0066t0008g0007 a0005c0014t0006g0052 a0016c0019t0006g0250	3	318	0.0094	16	c.494 others(33): Show c.4943+409_4943+424dupTGTGTGTGTGTGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	36/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0011 a0011	a0011c0055 a0011c0055	a0011c0055t0001 a0011c0055t0001	a0011c0055t0001g0259 a0011c0055t0001g0259	1	318	0.0031	16	c.421 others(32): Show c.421+995_421+1010dupTTTTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104896711	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0001 a0002c0037t0001	a0002c0037t0001g0275 a0002c0037t0001g0275	1	318	0.0031	16	c.66+ others(31): Show c.66+6887_66+6902dupAAAAAAAAAAAAAAAA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA2_chr9_137002234_137033237	137018145	T T	TCCTCCAG others(9): Show TCCTCCAGCCGGTCTTC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	320	0.0031	16	c.199 others(31): Show c.1993+17_1993+32dupGAAGACCGGCTGGAGG	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	14/48			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2289961	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18962.hp2 HG02155.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0001g0070 a0001c0001t0001g0104	2	252	0.0079	16	c.251 others(33): Show c.2514-357_2514-342dupTGTGTGTGTGTGTGTG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	19/32			chr16	TogoVar
ABCA4_chr1_93987834_94126148	94012786	G G	GCAACGAT others(9): Show GCAACGATATAAGCCAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0195 a0001c0004t0001g0195	1	306	0.0033	16	c.546 others(35): Show c.5461-1402_5461-1401insGTGGCTTATATCGTTG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	38/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116966	T T	TTGTCTTT others(9): Show TTGTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	306	0.0033	16	c.67- others(31): Show c.67-3901_67-3900insGAAAGAAAGAAAGACA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116968	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02040.hp2 HG02559.hp2 others(7): Show HG00738.hp1 HG02040.hp2 HG02559.hp2 HG02717.hp2 HG02818.hp1 HG03098.hp1 HG03239.hp1 HG03831.hp2 NA18998.hp1 NA19056.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0012 a0025	a0001c0001 a0001c0004 a0001c0007 others(4): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0006c0012 a0012c0016 a0025c0101	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0002c0002t0001 a0006c0012t0001 a0012c0016t0001 a0025c0101t0001	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0004t0001g0036 others(7): Show a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0004t0001g0036 a0001c0007t0001g0037 a0002c0002t0001g0020 a0002c0002t0001g0038 a0002c0002t0001g0120 a0006c0012t0001g0035 a0012c0016t0001g0023 a0025c0101t0001g0014	10	306	0.0327	16	c.67- others(31): Show c.67-3918_67-3903dupAAGAAAGAAAGAAAGA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69252016	A A	ACTTTTAT others(9): Show ACTTTTATATTCTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18948.hp1 NA19012.hp2 HG01070.hp2 NA18948.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0018 a0001c0002t0001 a0001c0006t0018	a0001c0002t0001g0121 a0001c0002t0001g0215 a0001c0006t0018g0092 a0001c0002t0001g0121 a0001c0002t0001g0215 a0001c0006t0018g0092	3	350	0.0086	16	c.441 others(33): Show c.4416-151_4416-150insAAAAAGAATATAAAAG	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	34/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0343 a0005c0007t0006g0343	1	350	0.0029	16	c.331 others(35): Show c.3315+1022_3315+1037dupAAAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69273447	C C	CTATTTAT others(9): Show CTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(100): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00642.hp2 HG00741.hp2 HG01123.hp1 HG01175.hp2 HG01261.hp2 HG01358.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03471.hp2 HG03492.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19089.hp2 NA20300.hp2	a0001 a0002 a0007 others(5): Show a0001 a0002 a0007 a0008 a0009 a0013 a0015 a0016	a0001c0002 a0001c0004 a0001c0013 others(7): Show a0001c0002 a0001c0004 a0001c0013 a0002c0001 a0007c0011 a0008c0012 a0009c0025 a0013c0019 a0015c0023 a0016c0014	a0001c0002t0001 a0001c0004t0014 a0001c0004t0027 others(14): Show a0001c0002t0001 a0001c0004t0014 a0001c0004t0027 a0001c0013t0002 a0002c0001t0002 a0002c0001t0009 a0002c0001t0011 a0002c0001t0025 a0002c0001t0031 a0002c0001t0032 a0007c0011t0002 a0008c0012t0002 a0008c0012t0023 a0009c0025t0002 a0013c0019t0002 a0015c0023t0002 a0016c0014t0002	a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 others(100): Show a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0004t0014g0321 a0001c0004t0014g0322 a0001c0004t0027g0320 a0001c0013t0002g0056 a0002c0001t0002g0013 a0002c0001t0002g0014 a0002c0001t0002g0211 a0002c0001t0002g0213 a0002c0001t0002g0214 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0218 a0002c0001t0002g0223 a0002c0001t0002g0225 a0002c0001t0002g0226 a0002c0001t0002g0227 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0232 a0002c0001t0002g0233 a0002c0001t0002g0234 a0002c0001t0002g0236 a0002c0001t0002g0237 a0002c0001t0002g0238 a0002c0001t0002g0240 a0002c0001t0002g0241 a0002c0001t0002g0242 a0002c0001t0002g0243 a0002c0001t0002g0244 a0002c0001t0002g0245 a0002c0001t0002g0246 a0002c0001t0002g0247 a0002c0001t0002g0249 a0002c0001t0002g0250 a0002c0001t0002g0251 a0002c0001t0002g0253 a0002c0001t0002g0254 a0002c0001t0002g0255 a0002c0001t0002g0256 a0002c0001t0002g0259 a0002c0001t0002g0261 a0002c0001t0002g0262 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0266 a0002c0001t0002g0267 a0002c0001t0002g0268 a0002c0001t0002g0269 a0002c0001t0002g0270 a0002c0001t0002g0271 a0002c0001t0002g0272 a0002c0001t0002g0274 a0002c0001t0002g0275 a0002c0001t0002g0276 a0002c0001t0002g0280 a0002c0001t0002g0281 a0002c0001t0002g0283 a0002c0001t0002g0284 a0002c0001t0002g0285 a0002c0001t0002g0289 a0002c0001t0002g0291 a0002c0001t0002g0292 a0002c0001t0002g0293 a0002c0001t0002g0294 a0002c0001t0002g0296 a0002c0001t0002g0299 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0302 a0002c0001t0002g0303 a0002c0001t0002g0305 a0002c0001t0002g0306 a0002c0001t0002g0308 a0002c0001t0002g0310 a0002c0001t0002g0311 a0002c0001t0002g0312 a0002c0001t0002g0318 a0002c0001t0002g0319 a0002c0001t0009g0239 a0002c0001t0009g0260 a0002c0001t0009g0290 a0002c0001t0009g0309 a0002c0001t0011g0248 a0002c0001t0011g0297 a0002c0001t0011g0298 a0002c0001t0025g0224 a0002c0001t0031g0313 a0002c0001t0032g0347 a0007c0011t0002g0286 a0007c0011t0002g0287 a0007c0011t0002g0288 a0008c0012t0002g0258 a0008c0012t0023g0278 a0009c0025t0002g0295 a0013c0019t0002g0252 a0015c0023t0002g0279 a0016c0014t0002g0257	103	350	0.2943	16	c.276 others(33): Show c.2764+496_2764+511dupAATAAATAAATAAATA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	20/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69288719	G G	GAAGAAAG others(9): Show GAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01106.hp1 others(1): Show HG01069.hp2 HG01071.hp2 HG01106.hp1 HG02717.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0339 a0005c0007t0006g0343 a0005c0007t0006g0344 others(1): Show a0005c0007t0006g0339 a0005c0007t0006g0343 a0005c0007t0006g0344 a0005c0007t0006g0345	4	350	0.0114	16	c.190 others(33): Show c.1902+442_1902+457dupTCTTTCTTTCTTTCTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	14/38			chr17	TogoVar

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