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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ABCA1_chr9_104776006_104933155	104799394	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00558.hp1 others(49): Show HG00099.hp2 HG00544.hp1 HG00558.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02080.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02723.hp2 HG02735.hp2 HG03130.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03834.hp2 NA18944.hp1 NA18955.hp2 NA18967.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18992.hp1 NA18998.hp1 NA18999.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0009 a0010 a0013 a0014 a0021	a0001c0001 a0001c0035 a0001c0092 others(16): Show a0001c0001 a0001c0035 a0001c0092 a0001c0097 a0002c0032 a0002c0033 a0003c0009 a0003c0038 a0003c0077 a0005c0036 a0006c0004 a0006c0063 a0009c0018 a0009c0021 a0009c0027 a0010c0030 a0013c0013 a0014c0023 a0021c0060	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 a0001c0001t0039 a0001c0035t0004 a0001c0092t0012 a0001c0097t0001 a0002c0032t0001 a0002c0033t0002 a0003c0009t0001 a0003c0009t0003 a0003c0009t0051 a0003c0038t0003 a0003c0077t0005 a0005c0036t0001 a0006c0004t0003 a0006c0004t0004 a0006c0004t0006 a0006c0004t0010 a0006c0004t0011 a0006c0004t0042 a0006c0004t0045 a0006c0063t0003 a0009c0018t0003 a0009c0018t0004 a0009c0018t0038 a0009c0021t0001 a0009c0021t0004 a0009c0027t0006 a0010c0030t0001 a0013c0013t0003 a0014c0023t0017 a0014c0023t0036 a0021c0060t0001	a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0082 others(49): Show a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0082 a0001c0001t0001g0121 a0001c0001t0001g0196 a0001c0001t0001g0218 a0001c0001t0001g0291 a0001c0001t0002g0137 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0211 a0001c0001t0004g0021 a0001c0001t0004g0194 a0001c0001t0006g0058 a0001c0001t0006g0214 a0001c0001t0006g0239 a0001c0001t0023g0295 a0001c0001t0023g0296 a0001c0001t0039g0246 a0001c0035t0004g0011 a0001c0092t0012g0220 a0001c0097t0001g0106 a0002c0032t0001g0317 a0002c0033t0002g0301 a0003c0009t0001g0279 a0003c0009t0003g0138 a0003c0009t0003g0178 a0003c0009t0003g0209 a0003c0009t0051g0145 a0003c0038t0003g0293 a0003c0077t0005g0312 a0005c0036t0001g0273 a0006c0004t0003g0190 a0006c0004t0004g0067 a0006c0004t0006g0249 a0006c0004t0010g0252 a0006c0004t0011g0269 a0006c0004t0042g0265 a0006c0004t0045g0155 a0006c0063t0003g0151 a0009c0018t0003g0248 a0009c0018t0003g0253 a0009c0018t0004g0292 a0009c0018t0038g0228 a0009c0021t0001g0189 a0009c0021t0004g0204 a0009c0027t0006g0224 a0010c0030t0001g0053 a0013c0013t0003g0256 a0014c0023t0017g0105 a0014c0023t0036g0104 a0021c0060t0001g0078	52	318	0.1635	8	c.494 others(25): Show c.4943+417_4943+424dupTGTGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	36/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104807843	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp2 HG03453.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp1	a0002 a0025 a0002 a0025	a0002c0046 a0002c0057 a0025c0083 a0002c0046 a0002c0057 a0025c0083	a0002c0046t0002 a0002c0057t0001 a0025c0083t0001 a0002c0046t0002 a0002c0057t0001 a0025c0083t0001	a0002c0046t0002g0154 a0002c0057t0001g0148 a0025c0083t0001g0313 a0002c0046t0002g0154 a0002c0057t0001g0148 a0025c0083t0001g0313	3	318	0.0094	8	c.427 others(27): Show c.4275-1414_4275-1413insGTGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	30/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104810141	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG02132.hp1 HG00099.hp2 HG00738.hp1 HG02132.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0012 a0003c0009t0001 a0003c0009t0003 a0001c0001t0012 a0003c0009t0001 a0003c0009t0003	a0001c0001t0012g0144 a0003c0009t0001g0279 a0003c0009t0003g0209 a0001c0001t0012g0144 a0003c0009t0001g0279 a0003c0009t0003g0209	3	318	0.0094	8	c.417 others(25): Show c.4176-585_4176-578dupATATATAT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	29/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104829943	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03195.hp2 HG06807.hp1 HG02615.hp2 HG03195.hp2 HG06807.hp1	a0005 a0017 a0005 a0017	a0005c0052 a0017c0034 a0005c0052 a0017c0034	a0005c0052t0001 a0017c0034t0001 a0005c0052t0001 a0017c0034t0001	a0005c0052t0001g0281 a0017c0034t0001g0153 a0017c0034t0001g0300 a0005c0052t0001g0281 a0017c0034t0001g0153 a0017c0034t0001g0300	3	318	0.0094	8	c.189 others(25): Show c.1893-813_1893-806dupGTGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	14/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104850119	T T	TTTTGTTT others(1): Show TTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(164): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18949.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0003 a0004 others(21): Show a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0024 a0025 a0027 a0029 a0035	a0002c0011 a0002c0015 a0002c0017 others(66): Show a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0025 a0002c0031 a0002c0033 a0002c0037 a0002c0046 a0002c0057 a0002c0059 a0002c0074 a0002c0075 a0002c0081 a0002c0085 a0003c0002 a0003c0009 a0003c0038 a0003c0056 a0003c0076 a0003c0077 a0004c0042 a0004c0044 a0004c0066 a0004c0107 a0005c0014 a0005c0016 a0005c0022 a0005c0026 a0005c0036 a0005c0039 a0005c0051 a0005c0052 a0005c0070 a0005c0071 a0005c0082 a0005c0084 a0008c0006 a0008c0047 a0008c0048 a0008c0069 a0009c0018 a0009c0021 a0009c0027 a0009c0028 a0010c0007 a0010c0030 a0011c0010 a0011c0055 a0012c0065 a0013c0013 a0014c0023 a0014c0053 a0014c0054 a0015c0020 a0015c0061 a0016c0019 a0017c0034 a0018c0079 a0018c0080 a0020c0045 a0021c0060 a0022c0050 a0023c0072 a0024c0073 a0025c0083 a0027c0062 a0029c0110 a0035c0091	a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(117): Show a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0015t0002 a0002c0015t0004 a0002c0015t0013 a0002c0017t0002 a0002c0017t0015 a0002c0024t0008 a0002c0025t0007 a0002c0025t0008 a0002c0025t0015 a0002c0031t0001 a0002c0033t0002 a0002c0033t0032 a0002c0037t0001 a0002c0037t0011 a0002c0046t0002 a0002c0057t0001 a0002c0059t0001 a0002c0074t0027 a0002c0075t0027 a0002c0081t0013 a0002c0085t0008 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0010 a0003c0002t0014 a0003c0002t0028 a0003c0009t0001 a0003c0009t0003 a0003c0009t0006 a0003c0009t0046 a0003c0009t0051 a0003c0038t0003 a0003c0038t0005 a0003c0056t0001 a0003c0076t0002 a0003c0077t0005 a0004c0042t0008 a0004c0044t0007 a0004c0044t0013 a0004c0066t0008 a0004c0107t0002 a0005c0014t0003 a0005c0014t0005 a0005c0014t0006 a0005c0014t0011 a0005c0016t0001 a0005c0016t0011 a0005c0022t0002 a0005c0022t0021 a0005c0026t0004 a0005c0026t0009 a0005c0026t0024 a0005c0036t0001 a0005c0039t0017 a0005c0051t0019 a0005c0052t0001 a0005c0070t0001 a0005c0071t0041 a0005c0082t0002 a0005c0084t0014 a0008c0006t0001 a0008c0006t0003 a0008c0006t0005 a0008c0006t0006 a0008c0006t0012 a0008c0006t0014 a0008c0006t0015 a0008c0006t0022 a0008c0006t0047 a0008c0047t0002 a0008c0048t0030 a0008c0069t0008 a0009c0018t0003 a0009c0018t0004 a0009c0018t0038 a0009c0021t0001 a0009c0021t0004 a0009c0027t0004 a0009c0027t0006 a0009c0028t0009 a0009c0028t0048 a0010c0007t0002 a0010c0007t0003 a0010c0007t0010 a0010c0030t0001 a0010c0030t0022 a0011c0010t0005 a0011c0010t0037 a0011c0055t0001 a0012c0065t0007 a0013c0013t0002 a0013c0013t0003 a0013c0013t0025 a0014c0023t0007 a0014c0023t0017 a0014c0023t0036 a0014c0053t0002 a0014c0054t0010 a0015c0020t0001 a0015c0020t0004 a0015c0061t0001 a0016c0019t0006 a0016c0019t0018 a0017c0034t0001 a0018c0079t0004 a0018c0080t0004 a0020c0045t0002 a0021c0060t0001 a0022c0050t0001 a0023c0072t0001 a0024c0073t0019 a0025c0083t0001 a0027c0062t0001 a0029c0110t0002 a0035c0091t0008	a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 others(164): Show a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 a0002c0011t0020g0171 a0002c0015t0002g0315 a0002c0015t0004g0004 a0002c0015t0013g0305 a0002c0015t0013g0306 a0002c0017t0002g0271 a0002c0017t0015g0101 a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0109 a0002c0025t0007g0237 a0002c0025t0008g0285 a0002c0025t0015g0283 a0002c0031t0001g0152 a0002c0031t0001g0278 a0002c0033t0002g0301 a0002c0033t0032g0024 a0002c0037t0001g0275 a0002c0037t0011g0116 a0002c0046t0002g0154 a0002c0057t0001g0148 a0002c0059t0001g0235 a0002c0074t0027g0290 a0002c0075t0027g0150 a0002c0081t0013g0277 a0002c0085t0008g0142 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0070 a0003c0002t0002g0122 a0003c0002t0002g0126 a0003c0002t0002g0172 a0003c0002t0002g0184 a0003c0002t0002g0257 a0003c0002t0003g0127 a0003c0002t0007g0059 a0003c0002t0010g0270 a0003c0002t0014g0066 a0003c0002t0028g0261 a0003c0009t0001g0279 a0003c0009t0003g0073 a0003c0009t0003g0138 a0003c0009t0003g0178 a0003c0009t0003g0209 a0003c0009t0006g0186 a0003c0009t0046g0219 a0003c0009t0051g0145 a0003c0038t0003g0293 a0003c0038t0005g0307 a0003c0056t0001g0288 a0003c0076t0002g0130 a0003c0077t0005g0312 a0004c0042t0008g0083 a0004c0042t0008g0158 a0004c0044t0007g0302 a0004c0044t0013g0280 a0004c0066t0008g0007 a0004c0107t0002g0236 a0005c0014t0003g0173 a0005c0014t0003g0243 a0005c0014t0005g0245 a0005c0014t0006g0052 a0005c0014t0011g0222 a0005c0016t0001g0009 a0005c0016t0001g0010 a0005c0016t0001g0049 a0005c0016t0011g0075 a0005c0022t0002g0284 a0005c0022t0021g0141 a0005c0022t0021g0147 a0005c0026t0004g0042 a0005c0026t0009g0076 a0005c0026t0024g0157 a0005c0036t0001g0091 a0005c0036t0001g0273 a0005c0039t0017g0018 a0005c0039t0017g0019 a0005c0051t0019g0164 a0005c0052t0001g0281 a0005c0070t0001g0316 a0005c0071t0041g0311 a0005c0082t0002g0282 a0005c0084t0014g0215 a0008c0006t0001g0087 a0008c0006t0003g0187 a0008c0006t0005g0063 a0008c0006t0006g0057 a0008c0006t0012g0081 a0008c0006t0014g0221 a0008c0006t0015g0095 a0008c0006t0022g0135 a0008c0006t0047g0056 a0008c0047t0002g0244 a0008c0048t0030g0022 a0008c0069t0008g0096 a0009c0018t0003g0248 a0009c0018t0003g0253 a0009c0018t0004g0292 a0009c0018t0038g0228 a0009c0021t0001g0174 a0009c0021t0001g0189 a0009c0021t0004g0204 a0009c0027t0004g0124 a0009c0027t0006g0224 a0009c0027t0006g0267 a0009c0028t0009g0092 a0009c0028t0009g0093 a0009c0028t0048g0241 a0010c0007t0002g0012 a0010c0007t0002g0013 a0010c0007t0002g0015 a0010c0007t0002g0125 a0010c0007t0003g0149 a0010c0007t0010g0139 a0010c0007t0010g0185 a0010c0007t0010g0200 a0010c0007t0010g0201 a0010c0030t0001g0053 a0010c0030t0022g0191 a0011c0010t0005g0097 a0011c0010t0005g0169 a0011c0010t0005g0255 a0011c0010t0005g0258 a0011c0010t0005g0286 a0011c0010t0005g0287 a0011c0010t0037g0181 a0011c0055t0001g0259 a0012c0065t0007g0182 a0013c0013t0002g0262 a0013c0013t0003g0120 a0013c0013t0003g0207 a0013c0013t0003g0256 a0013c0013t0025g0032 a0013c0013t0025g0033 a0014c0023t0007g0115 a0014c0023t0017g0105 a0014c0023t0036g0104 a0014c0053t0002g0146 a0014c0054t0010g0251 a0015c0020t0001g0006 a0015c0020t0001g0160 a0015c0020t0004g0005 a0015c0061t0001g0080 a0016c0019t0006g0250 a0016c0019t0018g0131 a0016c0019t0018g0177 a0017c0034t0001g0153 a0017c0034t0001g0300 a0018c0079t0004g0314 a0018c0080t0004g0107 a0020c0045t0002g0299 a0021c0060t0001g0078 a0022c0050t0001g0166 a0023c0072t0001g0309 a0024c0073t0019g0231 a0025c0083t0001g0313 a0027c0062t0001g0310 a0029c0110t0002g0165 a0035c0091t0008g0161	167	318	0.5252	8	c.721 others(25): Show c.721-4558_721-4551dupCAAACAAA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	7/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104888058	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02559.hp1 HG04204.hp2 others(1): Show HG01952.hp1 HG02559.hp1 HG04204.hp2 NA18949.hp1	a0004 a0007 a0030 a0004 a0007 a0030	a0004c0043 a0007c0003 a0030c0100 a0004c0043 a0007c0003 a0030c0100	a0004c0043t0003 a0007c0003t0009 a0030c0100t0009 a0004c0043t0003 a0007c0003t0009 a0030c0100t0009	a0004c0043t0003g0128 a0004c0043t0003g0136 a0007c0003t0009g0260 others(1): Show a0004c0043t0003g0128 a0004c0043t0003g0136 a0007c0003t0009g0260 a0030c0100t0009g0268	4	318	0.0126	8	c.160 others(25): Show c.160+1036_160+1043dupACACACAC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	3/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104909654	A A	ACACACAC others(1): Show ACACACACG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp1 HG02897.hp1 HG02486.hp2 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0024 a0002c0031 a0002c0024 a0002c0031	a0002c0024t0008 a0002c0031t0001 a0002c0024t0008 a0002c0031t0001	a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0031t0001g0278 a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0031t0001g0278	3	318	0.0094	8	c.-92 others(25): Show c.-92-5884_-92-5883insCGTGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	1/49			chr9	TogoVar
ABCA2_chr9_137002234_137033237	137020158	C C	CCCCTGGA others(1): Show CCCCTGGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01099.hp2 others(33): Show HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02109.hp1 HG02129.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18945.hp1 NA18953.hp2 NA18961.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0009 a0001c0014 others(10): Show a0001c0006 a0001c0009 a0001c0014 a0001c0015 a0001c0023 a0001c0025 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0002c0004 a0002c0026 a0003c0024	a0001c0006t0003 a0001c0009t0001 a0001c0014t0003 others(12): Show a0001c0006t0003 a0001c0009t0001 a0001c0014t0003 a0001c0014t0004 a0001c0015t0003 a0001c0023t0003 a0001c0023t0005 a0001c0025t0002 a0001c0053t0001 a0001c0054t0002 a0001c0055t0005 a0001c0056t0001 a0002c0004t0001 a0002c0026t0001 a0003c0024t0001	a0001c0006t0003g0171 a0001c0006t0003g0172 a0001c0006t0003g0173 others(27): Show a0001c0006t0003g0171 a0001c0006t0003g0172 a0001c0006t0003g0173 a0001c0006t0003g0174 a0001c0006t0003g0175 a0001c0006t0003g0178 a0001c0009t0001g0018 a0001c0009t0001g0052 a0001c0009t0001g0055 a0001c0014t0003g0155 a0001c0014t0003g0162 a0001c0014t0004g0158 a0001c0015t0003g0062 a0001c0015t0003g0063 a0001c0015t0003g0064 a0001c0023t0003g0157 a0001c0023t0005g0156 a0001c0025t0002g0020 a0001c0053t0001g0056 a0001c0054t0002g0154 a0001c0055t0005g0161 a0001c0056t0001g0186 a0002c0004t0001g0007 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0026t0001g0073 a0003c0024t0001g0053 a0003c0024t0001g0057	36	320	0.1125	8	c.142 others(25): Show c.1425+177_1425+178insCTCCAGGG	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	10/48			chr9	TogoVar
ABCA4_chr1_93987834_94126148	94046473	A A	AAAAAAAA others(1): Show AAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00642.hp2 others(49): Show HG00140.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02258.hp2 HG02559.hp2 HG02698.hp2 HG02809.hp2 HG02970.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG06807.hp1 NA18747.hp2 NA18943.hp1 NA18947.hp1 NA18950.hp2 NA18959.hp1 NA18983.hp1 NA18985.hp1 NA18989.hp1 NA18991.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19083.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0007 a0009 a0011 a0012 a0018 a0020 a0021 a0028 a0029 a0032 a0050	a0001c0001 a0001c0003 a0001c0005 others(18): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0080 a0002c0002 a0002c0010 a0003c0020 a0003c0065 a0007c0027 a0009c0018 a0011c0021 a0011c0073 a0012c0016 a0018c0025 a0020c0030 a0021c0104 a0028c0074 a0029c0056 a0032c0060 a0050c0109	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(18): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0080t0001 a0002c0002t0001 a0002c0010t0001 a0003c0020t0001 a0003c0065t0002 a0007c0027t0002 a0009c0018t0001 a0011c0021t0001 a0011c0073t0001 a0012c0016t0001 a0018c0025t0001 a0020c0030t0001 a0021c0104t0001 a0028c0074t0002 a0029c0056t0003 a0032c0060t0001 a0050c0109t0001	a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0106 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0106 a0001c0001t0001g0139 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0274 a0001c0003t0001g0072 a0001c0003t0001g0248 a0001c0003t0001g0263 a0001c0003t0001g0283 a0001c0005t0001g0175 a0001c0005t0001g0231 a0001c0007t0001g0292 a0001c0080t0001g0018 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0059 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0098 a0002c0002t0001g0116 a0002c0002t0001g0165 a0002c0002t0001g0180 a0002c0010t0001g0058 a0003c0020t0001g0119 a0003c0065t0002g0268 a0007c0027t0002g0042 a0009c0018t0001g0007 a0011c0021t0001g0166 a0011c0021t0001g0244 a0011c0073t0001g0269 a0012c0016t0001g0023 a0012c0016t0001g0152 a0018c0025t0001g0002 a0020c0030t0001g0251 a0020c0030t0001g0261 a0021c0104t0001g0129 a0028c0074t0002g0243 a0029c0056t0003g0140 a0032c0060t0001g0011 a0050c0109t0001g0262	52	306	0.1699	8	c.291 others(25): Show c.2918+445_2918+446insCTTTTTTT	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	19/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116966	T T	TTGTCTTT others(1): Show TTGTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18943.hp2 NA18950.hp1 others(3): Show HG00423.hp2 NA18943.hp2 NA18950.hp1 NA18983.hp2 NA19055.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0085	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0085t0002	a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0003t0001g0279 others(3): Show a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0003t0001g0279 a0001c0003t0001g0281 a0001c0005t0001g0282 a0001c0085t0002g0278	6	306	0.0196	8	c.67- others(23): Show c.67-3901_67-3900insGAAAGACA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116968	C C	CTCTTTCT others(1): Show CTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG01106.hp2 others(35): Show HG00558.hp2 HG00642.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp2 HG01978.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02809.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG04115.hp2 NA18953.hp1 NA18959.hp1 NA18979.hp2 NA18989.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp1 NA19084.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0009 a0019 a0030 a0033 a0036 a0041 a0043 a0047	a0001c0001 a0001c0003 a0001c0004 others(22): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0013 a0001c0064 a0001c0084 a0001c0108 a0002c0002 a0002c0010 a0003c0072 a0004c0035 a0005c0037 a0005c0040 a0005c0041 a0009c0018 a0009c0079 a0019c0090 a0030c0070 a0033c0062 a0036c0071 a0041c0088 a0043c0099 a0047c0103	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0001c0013t0001 a0001c0064t0001 a0001c0084t0001 a0001c0108t0001 a0002c0002t0001 a0002c0010t0001 a0003c0072t0001 a0004c0035t0002 a0005c0037t0001 a0005c0040t0001 a0005c0041t0001 a0009c0018t0001 a0009c0079t0001 a0019c0090t0003 a0030c0070t0001 a0033c0062t0001 a0036c0071t0003 a0041c0088t0001 a0043c0099t0001 a0047c0103t0001	a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 others(35): Show a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0132 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0002g0054 a0001c0003t0001g0021 a0001c0003t0001g0234 a0001c0004t0001g0236 a0001c0005t0001g0259 a0001c0009t0001g0258 a0001c0013t0001g0295 a0001c0064t0001g0233 a0001c0084t0001g0026 a0001c0108t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0010t0001g0058 a0002c0010t0001g0121 a0003c0072t0001g0049 a0004c0035t0002g0052 a0005c0037t0001g0051 a0005c0040t0001g0125 a0005c0041t0001g0025 a0009c0018t0001g0061 a0009c0079t0001g0133 a0019c0090t0003g0047 a0030c0070t0001g0298 a0033c0062t0001g0257 a0036c0071t0003g0048 a0041c0088t0001g0016 a0043c0099t0001g0254 a0047c0103t0001g0050	38	306	0.1242	8	c.67- others(23): Show c.67-3910_67-3903dupAAGAAAGA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69273447	C C	CTATTTAT others(1): Show CTATTTATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00642.hp1 others(59): Show HG00280.hp2 HG00609.hp1 HG00642.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01433.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG02055.hp2 HG02071.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03688.hp2 HG03942.hp2 HG04184.hp2 NA18612.hp2 NA18955.hp1 NA18975.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0014	a0001c0004 a0001c0022 a0002c0001 others(4): Show a0001c0004 a0001c0022 a0002c0001 a0003c0003 a0005c0007 a0006c0009 a0014c0021	a0001c0004t0003 a0001c0004t0017 a0001c0022t0003 others(8): Show a0001c0004t0003 a0001c0004t0017 a0001c0022t0003 a0002c0001t0004 a0003c0003t0003 a0003c0003t0015 a0005c0007t0006 a0006c0009t0003 a0006c0009t0008 a0006c0009t0028 a0014c0021t0002	a0001c0004t0003g0331 a0001c0004t0003g0336 a0001c0004t0003g0337 others(58): Show a0001c0004t0003g0331 a0001c0004t0003g0336 a0001c0004t0003g0337 a0001c0004t0003g0338 a0001c0004t0017g0323 a0001c0022t0003g0315 a0002c0001t0004g0176 a0003c0003t0003g0001 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0015 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0043 a0003c0003t0003g0044 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0193 a0003c0003t0015g0153 a0003c0003t0015g0154 a0005c0007t0006g0339 a0005c0007t0006g0340 a0005c0007t0006g0341 a0005c0007t0006g0342 a0005c0007t0006g0343 a0005c0007t0006g0344 a0005c0007t0006g0345 a0006c0009t0003g0219 a0006c0009t0003g0220 a0006c0009t0003g0221 a0006c0009t0008g0163 a0006c0009t0008g0164 a0006c0009t0028g0222 a0014c0021t0002g0162	62	350	0.1771	8	c.276 others(25): Show c.2764+504_2764+511dupAATAAATA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	20/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69293833	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp2 HG01928.hp2 others(7): Show HG01074.hp1 HG01192.hp2 HG01928.hp2 HG02055.hp2 HG02630.hp2 HG03491.hp1 HG03492.hp1 NA18955.hp1 NA19054.hp1 NA19084.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0014	a0001c0002 a0003c0003 a0006c0009 others(1): Show a0001c0002 a0003c0003 a0006c0009 a0014c0021	a0001c0002t0001 a0003c0003t0003 a0006c0009t0003 others(1): Show a0001c0002t0001 a0003c0003t0003 a0006c0009t0003 a0014c0021t0002	a0001c0002t0001g0099 a0001c0002t0001g0100 a0003c0003t0003g0004 others(7): Show a0001c0002t0001g0099 a0001c0002t0001g0100 a0003c0003t0003g0004 a0003c0003t0003g0006 a0003c0003t0003g0009 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0031 a0006c0009t0003g0221 a0014c0021t0002g0162	10	350	0.0286	8	c.149 others(25): Show c.1495+814_1495+821dupACACACAC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298221	A A	AAGGTAGG others(1): Show AAGGTAGGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02523.hp2 HG02698.hp2 others(1): Show HG01261.hp1 HG02523.hp2 HG02698.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0019 a0001c0002t0001 a0001c0008t0019	a0001c0002t0001g0069 a0001c0002t0001g0104 a0001c0002t0001g0114 others(1): Show a0001c0002t0001g0069 a0001c0002t0001g0104 a0001c0002t0001g0114 a0001c0008t0019g0082	4	350	0.0114	8	c.126 others(25): Show c.1268-870_1268-863dupACCTACCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298225	T T	TAGGTAGG others(1): Show TAGGTAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(35): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG01175.hp2 HG01358.hp2 HG01952.hp1 HG02004.hp2 HG02074.hp2 HG02083.hp2 HG02165.hp2 HG02273.hp1 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03492.hp2 HG03942.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18962.hp2 NA18969.hp1 NA18972.hp2 NA18983.hp2 NA18995.hp1 NA19000.hp1 NA19001.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19060.hp1 NA19063.hp2 NA19072.hp1 NA19076.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA20300.hp2 NA21309.hp1	a0002 a0007 a0009 others(3): Show a0002 a0007 a0009 a0013 a0014 a0016	a0002c0001 a0007c0011 a0009c0025 others(3): Show a0002c0001 a0007c0011 a0009c0025 a0013c0019 a0014c0021 a0016c0014	a0002c0001t0002 a0002c0001t0009 a0002c0001t0011 others(6): Show a0002c0001t0002 a0002c0001t0009 a0002c0001t0011 a0002c0001t0031 a0007c0011t0002 a0009c0025t0002 a0013c0019t0002 a0014c0021t0002 a0016c0014t0002	a0002c0001t0002g0214 a0002c0001t0002g0218 a0002c0001t0002g0226 others(35): Show a0002c0001t0002g0214 a0002c0001t0002g0218 a0002c0001t0002g0226 a0002c0001t0002g0227 a0002c0001t0002g0228 a0002c0001t0002g0232 a0002c0001t0002g0233 a0002c0001t0002g0235 a0002c0001t0002g0237 a0002c0001t0002g0242 a0002c0001t0002g0243 a0002c0001t0002g0244 a0002c0001t0002g0246 a0002c0001t0002g0247 a0002c0001t0002g0249 a0002c0001t0002g0261 a0002c0001t0002g0262 a0002c0001t0002g0264 a0002c0001t0002g0269 a0002c0001t0002g0272 a0002c0001t0002g0273 a0002c0001t0002g0275 a0002c0001t0002g0281 a0002c0001t0002g0291 a0002c0001t0002g0306 a0002c0001t0002g0307 a0002c0001t0002g0314 a0002c0001t0009g0239 a0002c0001t0011g0248 a0002c0001t0011g0297 a0002c0001t0031g0313 a0007c0011t0002g0286 a0007c0011t0002g0287 a0007c0011t0002g0288 a0009c0025t0002g0295 a0013c0019t0002g0252 a0014c0021t0002g0162 a0016c0014t0002g0257	38	350	0.1086	8	c.126 others(25): Show c.1268-874_1268-867dupTCCTACCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298316	G G	GAGGAAGG others(1): Show GAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01257.hp1 HG02258.hp1 others(9): Show HG00408.hp1 HG01257.hp1 HG02258.hp1 HG02647.hp1 HG03041.hp1 HG04184.hp1 NA18522.hp1 NA18967.hp2 NA18977.hp2 NA18979.hp1 NA19030.hp1 NA19078.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0001c0004 a0001c0008 others(2): Show a0001c0002 a0001c0004 a0001c0008 a0002c0001 a0011c0018	a0001c0002t0001 a0001c0004t0005 a0001c0008t0001 others(2): Show a0001c0002t0001 a0001c0004t0005 a0001c0008t0001 a0002c0001t0008 a0011c0018t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0066 others(9): Show a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0125 a0001c0002t0001g0129 a0001c0002t0001g0143 a0001c0002t0001g0150 a0001c0004t0005g0328 a0001c0008t0001g0080 a0002c0001t0008g0168 a0011c0018t0001g0148	12	350	0.0343	8	c.126 others(25): Show c.1268-965_1268-958dupTCCTTCCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69299471	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp2 HG01891.hp2 others(33): Show HG00140.hp1 HG01358.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02109.hp1 HG02273.hp1 HG02293.hp2 HG02735.hp2 HG02976.hp2 HG03209.hp1 HG03486.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 NA18945.hp1 NA18952.hp1 NA18959.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19081.hp1 NA19086.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0001c0024 a0002c0001 a0005c0007 a0007c0011	a0001c0002t0001 a0001c0002t0012 a0001c0004t0017 others(7): Show a0001c0002t0001 a0001c0002t0012 a0001c0004t0017 a0001c0008t0001 a0001c0024t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0025 a0005c0007t0006 a0007c0011t0002	a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0129 others(33): Show a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0012g0012 a0001c0004t0017g0323 a0001c0008t0001g0050 a0001c0024t0001g0145 a0002c0001t0002g0211 a0002c0001t0002g0223 a0002c0001t0002g0225 a0002c0001t0002g0227 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0232 a0002c0001t0002g0235 a0002c0001t0002g0236 a0002c0001t0002g0237 a0002c0001t0002g0249 a0002c0001t0002g0255 a0002c0001t0002g0282 a0002c0001t0002g0284 a0002c0001t0002g0296 a0002c0001t0002g0302 a0002c0001t0002g0306 a0002c0001t0002g0314 a0002c0001t0004g0178 a0002c0001t0004g0191 a0002c0001t0025g0224 a0005c0007t0006g0346 a0007c0011t0002g0287 a0007c0011t0002g0288	36	350	0.1029	8	c.126 others(27): Show c.1267+1660_1267+1667dupGTGTGTGT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303759	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp2 HG02622.hp1 others(10): Show HG01069.hp1 HG01167.hp2 HG02622.hp1 HG02735.hp1 HG03492.hp1 HG03669.hp2 NA18947.hp1 NA18980.hp2 NA18985.hp2 NA19000.hp2 NA19074.hp2 NA19078.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0025 a0001c0002t0001 a0002c0001t0025	a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0075 others(10): Show a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0001g0124 a0001c0002t0001g0127 a0001c0002t0001g0134 a0001c0002t0001g0150 a0001c0002t0001g0158 a0002c0001t0025g0224	13	350	0.0371	8	c.931 others(23): Show c.931-861_931-854dupTTTTTTTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00642.hp2 others(20): Show HG00099.hp1 HG00280.hp2 HG00642.hp2 HG01258.hp2 HG01934.hp1 HG02015.hp2 HG02040.hp2 HG02145.hp2 HG02523.hp2 HG02922.hp2 NA18955.hp2 NA18963.hp1 NA18974.hp2 NA18985.hp1 NA19000.hp2 NA19010.hp1 NA19043.hp1 NA19064.hp1 NA19065.hp2 NA19074.hp2 NA19075.hp2 NA19078.hp1 NA19081.hp2	a0002 a0006 a0011 a0002 a0006 a0011	a0002c0002 a0006c0013 a0011c0014 a0002c0002 a0006c0013 a0011c0014	a0002c0002t0002 a0006c0013t0001 a0011c0014t0002 a0002c0002t0002 a0006c0013t0001 a0011c0014t0002	a0002c0002t0002g0024 a0002c0002t0002g0175 a0002c0002t0002g0178 others(19): Show a0002c0002t0002g0024 a0002c0002t0002g0175 a0002c0002t0002g0178 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0193 a0002c0002t0002g0196 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0216 a0002c0002t0002g0220 a0002c0002t0002g0223 a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0257 a0006c0013t0001g0249 a0011c0014t0002g0250	23	326	0.0706	8	c.393 others(25): Show c.3937+124_3937+131dupATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69142854	G G	GTATATAT others(1): Show GTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG01071.hp1 others(6): Show HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01243.hp1 HG02071.hp1 HG02148.hp2 HG02895.hp2 NA20752.hp2 NA21309.hp1	a0005 a0012 a0005 a0012	a0005c0005 a0012c0030 a0005c0005 a0012c0030	a0005c0005t0002 a0012c0030t0002 a0005c0005t0002 a0012c0030t0002	a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0127 others(6): Show a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0127 a0005c0005t0002g0128 a0005c0005t0002g0130 a0005c0005t0002g0156 a0005c0005t0002g0157 a0005c0005t0002g0158 a0012c0030t0002g0131	9	326	0.0276	8	c.-11 others(19): Show c.-1156_-1155insTATATATA	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		960		chr17	TogoVar
ABCA6_chr17_69073702_69146895	69143833	G G	GTAGATAG others(1): Show GTAGATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(73): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00609.hp2 HG01070.hp2 HG01109.hp2 HG01515.hp1 HG01884.hp1 HG01952.hp1 HG01975.hp1 HG02004.hp1 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03704.hp2 HG04199.hp1 HG04199.hp2 NA18942.hp1 NA18948.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18977.hp2 NA18982.hp1 NA18985.hp1 NA18993.hp1 NA18993.hp2 NA19000.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19240.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0017 a0022 a0024	a0001c0001 a0002c0002 a0003c0003 others(10): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0010 a0006c0013 a0007c0006 a0008c0008 a0012c0030 a0017c0022 a0022c0026 a0024c0029	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(10): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0002 a0005c0005t0002 a0006c0010t0001 a0006c0013t0001 a0007c0006t0001 a0008c0008t0002 a0012c0030t0002 a0017c0022t0001 a0022c0026t0002 a0024c0029t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0124 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0172 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0184 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0201 a0002c0002t0002g0204 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0216 a0002c0002t0002g0219 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0228 a0002c0002t0002g0238 a0002c0002t0002g0242 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0264 a0003c0003t0001g0269 a0003c0003t0001g0277 a0003c0003t0001g0279 a0004c0004t0002g0019 a0004c0004t0002g0132 a0004c0004t0002g0137 a0004c0004t0002g0138 a0004c0004t0002g0140 a0004c0004t0002g0147 a0004c0004t0002g0151 a0005c0005t0002g0007 a0005c0005t0002g0128 a0006c0010t0001g0259 a0006c0010t0001g0260 a0006c0013t0001g0165 a0007c0006t0001g0088 a0008c0008t0002g0018 a0012c0030t0002g0131 a0017c0022t0001g0275 a0022c0026t0002g0106 a0024c0029t0001g0243	76	326	0.2331	8	c.-21 others(19): Show c.-2135_-2134insTCTATCTA	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		1939		chr17	TogoVar
ABCA7_chr19_1035107_1070572	1059248	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp1 HG02723.hp1 others(3): Show HG01071.hp2 HG02071.hp1 HG02723.hp1 HG02723.hp2 HG03688.hp1 HG03688.hp2	a0010 a0011 a0014 others(3): Show a0010 a0011 a0014 a0015 a0017 a0019	a0010c0010 a0011c0008 a0014c0019 others(3): Show a0010c0010 a0011c0008 a0014c0019 a0015c0018 a0017c0017 a0019c0012	a0010c0010t0001 a0011c0008t0002 a0014c0019t0002 others(3): Show a0010c0010t0001 a0011c0008t0002 a0014c0019t0002 a0015c0018t0001 a0017c0017t0001 a0019c0012t0001	a0010c0010t0001g0013 a0011c0008t0002g0014 a0014c0019t0002g0029 others(3): Show a0010c0010t0001g0013 a0011c0008t0002g0014 a0014c0019t0002g0029 a0015c0018t0001g0028 a0017c0017t0001g0027 a0019c0012t0001g0026	6	30	0.2000	8	c.546 others(25): Show c.5463+190_5463+197dupATTTATTT	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATATATC others(1): Show TATATATCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01516.hp2 others(7): Show HG00280.hp1 HG00733.hp1 HG01516.hp2 HG01517.hp1 HG02622.hp2 HG02698.hp1 HG02976.hp2 HG03579.hp2 NA20805.hp2 NA20905.hp1	a0001 a0005 a0014 others(1): Show a0001 a0005 a0014 a0018	a0001c0004 a0005c0009 a0014c0057 others(1): Show a0001c0004 a0005c0009 a0014c0057 a0018c0051	a0001c0004t0001 a0005c0009t0001 a0014c0057t0004 others(1): Show a0001c0004t0001 a0005c0009t0001 a0014c0057t0004 a0018c0051t0004	a0001c0004t0001g0033 a0001c0004t0001g0037 a0001c0004t0001g0181 others(7): Show a0001c0004t0001g0033 a0001c0004t0001g0037 a0001c0004t0001g0181 a0001c0004t0001g0188 a0001c0004t0001g0195 a0001c0004t0001g0210 a0001c0004t0001g0241 a0005c0009t0001g0109 a0014c0057t0004g0133 a0018c0051t0004g0122	10	274	0.0365	8	c.314 others(25): Show c.3145-406_3145-405insGGATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68901270	T T	TATCTAGA others(1): Show TATCTAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(109): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02055.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0007 a0009 a0010 a0017 a0019 a0021 a0023 a0027 a0028	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0001c0017 a0001c0044 a0003c0007 a0004c0029 a0007c0010 a0009c0025 a0010c0012 a0017c0024 a0019c0041 a0021c0036 a0023c0047 a0027c0037 a0028c0054	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(15): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0017t0001 a0001c0044t0001 a0003c0007t0001 a0004c0029t0001 a0007c0010t0001 a0009c0025t0001 a0010c0012t0001 a0017c0024t0001 a0019c0041t0001 a0021c0036t0001 a0023c0047t0001 a0027c0037t0001 a0028c0054t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 others(109): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0007g0265 a0001c0003t0001g0055 a0001c0003t0001g0058 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0087 a0001c0003t0001g0101 a0001c0003t0003g0097 a0001c0003t0003g0099 a0001c0005t0001g0137 a0001c0005t0001g0138 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 a0001c0005t0001g0144 a0001c0005t0001g0150 a0001c0005t0001g0151 a0001c0017t0001g0024 a0001c0044t0001g0212 a0003c0007t0001g0059 a0003c0007t0001g0163 a0003c0007t0001g0189 a0003c0007t0001g0252 a0003c0007t0001g0257 a0003c0007t0001g0263 a0003c0007t0001g0266 a0004c0029t0001g0105 a0007c0010t0001g0123 a0007c0010t0001g0132 a0009c0025t0001g0102 a0010c0012t0001g0030 a0010c0012t0001g0031 a0017c0024t0001g0022 a0019c0041t0001g0009 a0021c0036t0001g0158 a0023c0047t0001g0010 a0027c0037t0001g0159 a0028c0054t0001g0223	112	274	0.4088	8	c.276 others(27): Show c.2764+1442_2764+1443insTTCTAGAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	21/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68911734	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02572.hp2 others(6): Show HG01884.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG03017.hp1 HG03490.hp1 HG04199.hp1 NA18957.hp2 NA18994.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0015c0015	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0015c0015t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0045 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0002t0001g0177 a0001c0005t0001g0149 a0015c0015t0001g0012	9	274	0.0329	8	c.213 others(27): Show c.2139-3863_2139-3856dupGTGTGTGT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	17/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18982.hp1 NA18982.hp2 others(2): Show HG01978.hp2 NA18982.hp1 NA18982.hp2 NA19003.hp2 NA19010.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0006 others(1): Show a0001c0001 a0001c0003 a0002c0006 a0011c0013	a0001c0001t0001 a0001c0003t0001 a0002c0006t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0006t0001 a0011c0013t0001	a0001c0001t0001g0224 a0001c0001t0001g0258 a0001c0003t0001g0074 others(2): Show a0001c0001t0001g0224 a0001c0001t0001g0258 a0001c0003t0001g0074 a0002c0006t0001g0202 a0011c0013t0001g0092	5	274	0.0183	8	c.150 others(23): Show c.1501+40_1501+47dupAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935262	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02129.hp2 HG02165.hp2 others(22): Show HG00597.hp2 HG02129.hp2 HG02165.hp2 HG02523.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18946.hp2 NA18951.hp2 NA18960.hp1 NA18962.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18987.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19063.hp1 NA20805.hp1	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0021 a0027 a0032	a0001c0001 a0001c0003 a0003c0007 others(5): Show a0001c0001 a0001c0003 a0003c0007 a0003c0033 a0006c0038 a0021c0036 a0027c0037 a0032c0016	a0001c0001t0001 a0001c0003t0001 a0003c0007t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0003c0007t0001 a0003c0033t0001 a0006c0038t0001 a0021c0036t0001 a0027c0037t0001 a0032c0016t0001	a0001c0001t0001g0191 a0001c0003t0001g0055 a0001c0003t0001g0057 others(22): Show a0001c0001t0001g0191 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0085 a0003c0007t0001g0059 a0003c0033t0001g0056 a0006c0038t0001g0098 a0021c0036t0001g0158 a0027c0037t0001g0159 a0032c0016t0001g0062	25	274	0.0912	8	c.466 others(25): Show c.466+1681_466+1688dupCACACACA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935540	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01168.hp2 HG01361.hp1 others(7): Show HG01069.hp2 HG01168.hp2 HG01361.hp1 HG02523.hp1 HG03491.hp2 HG04204.hp1 NA18747.hp1 NA18957.hp1 NA18960.hp1 NA18973.hp2	a0001 a0006 a0021 others(1): Show a0001 a0006 a0021 a0027	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0006c0014 a0021c0036 a0027c0037	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0006c0014t0001 a0021c0036t0001 a0027c0037t0001	a0001c0001t0001g0011 a0001c0001t0001g0174 a0001c0002t0001g0050 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0174 a0001c0002t0001g0050 a0001c0002t0001g0076 a0001c0003t0001g0063 a0001c0003t0001g0075 a0001c0003t0002g0086 a0006c0014t0001g0084 a0021c0036t0001g0158 a0027c0037t0001g0159	10	274	0.0365	8	c.466 others(25): Show c.466+1403_466+1410dupTATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944316	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp2 others(9): Show HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00741.hp2 HG02040.hp2 HG02572.hp2 NA18939.hp2 NA18953.hp2 NA18968.hp1 NA18978.hp1 NA18999.hp1 NA19001.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006 a0016c0018	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0006t0001 a0016c0018t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0234 others(9): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0271 a0001c0002t0001g0177 a0001c0004t0001g0187 a0002c0006t0001g0240 a0016c0018t0001g0235	12	274	0.0438	8	c.-5- others(23): Show c.-5-2285_-5-2278dupTATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944359	T T	TATATACA others(1): Show TATATACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01167.hp1 others(9): Show HG00280.hp2 HG00733.hp1 HG01167.hp1 HG01168.hp1 HG02145.hp1 HG02258.hp1 HG02559.hp2 HG02622.hp1 HG02965.hp2 NA18969.hp2 NA18982.hp1 NA20129.hp1	a0001 a0009 a0010 others(2): Show a0001 a0009 a0010 a0011 a0030	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0009c0025 a0010c0012 a0011c0013 a0030c0030	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0009c0025t0001 a0010c0012t0001 a0011c0013t0001 a0030c0030t0001	a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0053 others(9): Show a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0002t0001g0004 a0001c0002t0001g0034 a0001c0004t0001g0033 a0009c0025t0001g0102 a0010c0012t0001g0030 a0010c0012t0001g0031 a0011c0013t0001g0032 a0011c0013t0001g0092 a0030c0030t0001g0103	12	274	0.0438	8	c.-5- others(23): Show c.-5-2321_-5-2320insGTGTATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68956352	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(22): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00733.hp2 HG00741.hp1 HG01099.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02896.hp1 HG03471.hp2 NA18953.hp1 NA18991.hp1 NA18991.hp2 NA19003.hp1 NA19043.hp2 NA20805.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0028	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0004c0008 a0006c0038 a0006c0052 a0008c0019 a0008c0039 a0028c0054	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0002c0006t0001 a0004c0008t0001 a0004c0008t0005 a0006c0038t0001 a0006c0052t0001 a0008c0019t0001 a0008c0039t0001 a0028c0054t0001	a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0155 others(22): Show a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0155 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0002t0001g0035 a0001c0002t0001g0203 a0001c0002t0006g0231 a0001c0003t0001g0101 a0001c0003t0003g0097 a0001c0003t0003g0099 a0001c0004t0001g0188 a0001c0004t0001g0190 a0001c0004t0001g0195 a0001c0004t0001g0210 a0001c0004t0001g0241 a0002c0006t0001g0161 a0002c0006t0001g0165 a0004c0008t0001g0153 a0004c0008t0005g0152 a0006c0038t0001g0098 a0006c0052t0001g0204 a0008c0019t0001g0156 a0008c0039t0001g0154 a0028c0054t0001g0223	25	274	0.0912	8	c.-13 others(19): Show c.-1301_-1300insGTGTGTGT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		961		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958506	A A	AATATAAT others(1): Show AATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03195.hp1 HG02258.hp1 HG03195.hp1	a0001 a0030 a0001 a0030	a0001c0004 a0030c0030 a0001c0004 a0030c0030	a0001c0004t0001 a0030c0030t0001 a0001c0004t0001 a0030c0030t0001	a0001c0004t0001g0124 a0030c0030t0001g0103 a0001c0004t0001g0124 a0030c0030t0001g0103	2	274	0.0073	8	c.-34 others(19): Show c.-3455_-3454insAATTATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3115		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958534	A A	AATATAAT others(1): Show AATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02922.hp2 HG03041.hp2 others(1): Show HG02647.hp2 HG02922.hp2 HG03041.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0042	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0042t0001	a0001c0001t0001g0129 a0001c0002t0001g0127 a0001c0004t0001g0128 others(1): Show a0001c0001t0001g0129 a0001c0002t0001g0127 a0001c0004t0001g0128 a0001c0042t0001g0130	4	274	0.0146	8	c.-34 others(19): Show c.-3483_-3482insAATTATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3143		chr17	TogoVar
ABCA9_chr17_68969488_69065927	68989256	T T	TCTCTCAC others(1): Show TCTCTCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00733.hp2 others(46): Show HG00099.hp2 HG00280.hp1 HG00733.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01952.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02273.hp1 HG02602.hp2 HG02723.hp1 HG03139.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG04204.hp1 HG04228.hp2 NA18939.hp1 NA18949.hp1 NA18957.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp2 NA18980.hp1 NA18986.hp2 NA18992.hp1 NA19009.hp2 NA19030.hp1 NA19054.hp2 NA19058.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19086.hp2 NA19091.hp1 NA20129.hp2	a0002 a0006 a0015 a0002 a0006 a0015	a0002c0002 a0002c0004 a0002c0027 others(2): Show a0002c0002 a0002c0004 a0002c0027 a0006c0010 a0015c0030	a0002c0002t0002 a0002c0004t0002 a0002c0027t0002 others(2): Show a0002c0002t0002 a0002c0004t0002 a0002c0027t0002 a0006c0010t0002 a0015c0030t0002	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0059 others(43): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0094 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0114 a0002c0002t0002g0117 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0143 a0002c0002t0002g0150 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0158 a0002c0002t0002g0224 a0002c0002t0002g0233 a0002c0002t0002g0260 a0002c0004t0002g0085 a0002c0004t0002g0108 a0002c0004t0002g0109 a0002c0004t0002g0110 a0002c0004t0002g0112 a0002c0004t0002g0157 a0002c0004t0002g0262 a0002c0004t0002g0265 a0002c0004t0002g0267 a0002c0027t0002g0069 a0006c0010t0002g0083 a0006c0010t0002g0120 a0006c0010t0002g0144 a0006c0010t0002g0145 a0015c0030t0002g0205	49	312	0.1571	8	c.395 others(25): Show c.3956-139_3956-138insTGTGAGAG	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	30/38			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69041729	T T	TTATCTAT others(1): Show TTATCTATC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00733.hp2 others(86): Show HG00544.hp2 HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02622.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp2 HG02970.hp2 HG03139.hp2 HG03540.hp1 HG03654.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA19002.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0006 a0007 a0010 a0011 a0012 a0013	a0001c0001 a0001c0007 a0002c0002 others(8): Show a0001c0001 a0001c0007 a0002c0002 a0002c0004 a0005c0006 a0006c0010 a0007c0009 a0010c0012 a0011c0015 a0012c0014 a0013c0016	a0001c0001t0001 a0001c0007t0001 a0001c0007t0004 others(9): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0004 a0002c0002t0002 a0002c0004t0002 a0005c0006t0001 a0006c0010t0002 a0007c0009t0005 a0010c0012t0001 a0011c0015t0003 a0012c0014t0003 a0013c0016t0002	a0001c0001t0001g0084 a0001c0001t0001g0201 a0001c0001t0001g0208 others(80): Show a0001c0001t0001g0084 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0239 a0001c0007t0001g0115 a0001c0007t0001g0116 a0001c0007t0001g0141 a0001c0007t0001g0161 a0001c0007t0004g0093 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0091 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0114 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0004t0002g0085 a0002c0004t0002g0108 a0002c0004t0002g0109 a0002c0004t0002g0110 a0002c0004t0002g0111 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0267 a0005c0006t0001g0009 a0005c0006t0001g0275 a0005c0006t0001g0276 a0005c0006t0001g0277 a0005c0006t0001g0278 a0005c0006t0001g0279 a0005c0006t0001g0280 a0005c0006t0001g0281 a0005c0006t0001g0283 a0005c0006t0001g0284 a0005c0006t0001g0292 a0005c0006t0001g0293 a0005c0006t0001g0294 a0006c0010t0002g0083 a0006c0010t0002g0120 a0006c0010t0002g0144 a0006c0010t0002g0145 a0007c0009t0005g0010 a0007c0009t0005g0296 a0007c0009t0005g0297 a0010c0012t0001g0273 a0010c0012t0001g0282 a0011c0015t0003g0049 a0012c0014t0003g0048 a0013c0016t0002g0050	89	312	0.2853	8	c.800 others(25): Show c.800+1752_800+1759dupGATAGATA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	6/38			chr17	TogoVar
ABCB10_chr1_229511582_229563707	229535038	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00741.hp1 others(12): Show HG00099.hp2 HG00140.hp1 HG00741.hp1 HG01074.hp1 HG01106.hp2 HG01934.hp1 HG02074.hp2 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG04199.hp1 HG04204.hp1 NA18906.hp2 NA18967.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0036 a0001c0002t0001g0046 a0001c0002t0001g0047 others(11): Show a0001c0002t0001g0036 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0051 a0001c0002t0002g0003 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0093	15	284	0.0528	8	c.134 others(27): Show c.1340-3315_1340-3308dupTTTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	6/12			chr1	TogoVar
ABCB11_chr2_168915781_169036324	168975344	T T	TATATTTA others(1): Show TATATTTAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG03098.hp2 HG02630.hp1 HG02809.hp1 HG03098.hp2	a0002 a0002	a0002c0012 a0002c0054 a0002c0056 a0002c0012 a0002c0054 a0002c0056	a0002c0012t0007 a0002c0054t0006 a0002c0056t0011 a0002c0012t0007 a0002c0054t0006 a0002c0056t0011	a0002c0012t0007g0010 a0002c0054t0006g0023 a0002c0056t0011g0022 a0002c0012t0007g0010 a0002c0054t0006g0023 a0002c0056t0011g0022	3	306	0.0098	8	c.130 others(27): Show c.1308+1232_1308+1233insTTAAATAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(1): Show GATAAATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp2 others(34): Show HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00733.hp2 HG02071.hp1 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18947.hp2 NA18969.hp2 NA18970.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19078.hp1 NA19087.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0012 a0016	a0001c0001 a0001c0005 a0001c0006 others(16): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0001c0015 a0001c0030 a0002c0008 a0002c0012 a0002c0025 a0002c0027 a0002c0028 a0002c0065 a0002c0067 a0004c0009 a0004c0023 a0004c0046 a0004c0058 a0012c0029 a0016c0057	a0001c0001t0001 a0001c0005t0001 a0001c0005t0010 others(23): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0010 a0001c0005t0017 a0001c0005t0030 a0001c0006t0002 a0001c0006t0034 a0001c0007t0001 a0001c0015t0002 a0001c0030t0002 a0002c0008t0018 a0002c0012t0005 a0002c0025t0008 a0002c0027t0005 a0002c0028t0001 a0002c0065t0006 a0002c0067t0006 a0004c0009t0004 a0004c0009t0005 a0004c0009t0007 a0004c0009t0022 a0004c0023t0001 a0004c0046t0003 a0004c0058t0001 a0012c0029t0001 a0016c0057t0016	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0005t0001g0105 others(34): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0005t0001g0105 a0001c0005t0001g0203 a0001c0005t0001g0205 a0001c0005t0001g0208 a0001c0005t0010g0104 a0001c0005t0017g0005 a0001c0005t0030g0106 a0001c0006t0002g0103 a0001c0006t0002g0107 a0001c0006t0002g0111 a0001c0006t0002g0112 a0001c0006t0002g0113 a0001c0006t0002g0138 a0001c0006t0034g0114 a0001c0007t0001g0289 a0001c0007t0001g0291 a0001c0015t0002g0290 a0001c0030t0002g0116 a0002c0008t0018g0298 a0002c0012t0005g0218 a0002c0025t0008g0225 a0002c0027t0005g0299 a0002c0028t0001g0300 a0002c0065t0006g0223 a0002c0067t0006g0302 a0004c0009t0004g0101 a0004c0009t0005g0095 a0004c0009t0007g0094 a0004c0009t0022g0092 a0004c0023t0001g0096 a0004c0023t0001g0097 a0004c0046t0003g0015 a0004c0058t0001g0098 a0012c0029t0001g0108 a0016c0057t0016g0093	37	306	0.1209	8	c.130 others(27): Show c.1308+1063_1308+1070dupATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975509	A A	AAATATAT others(1): Show AAATATATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02257.hp1 others(7): Show HG01884.hp2 HG02055.hp2 HG02257.hp1 HG02559.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 NA19043.hp1	a0003 a0015 a0003 a0015	a0003c0013 a0003c0018 a0003c0024 others(3): Show a0003c0013 a0003c0018 a0003c0024 a0003c0043 a0003c0064 a0015c0042	a0003c0013t0001 a0003c0018t0011 a0003c0018t0036 others(4): Show a0003c0013t0001 a0003c0018t0011 a0003c0018t0036 a0003c0024t0004 a0003c0043t0006 a0003c0064t0011 a0015c0042t0005	a0003c0013t0001g0016 a0003c0013t0001g0027 a0003c0013t0001g0088 others(7): Show a0003c0013t0001g0016 a0003c0013t0001g0027 a0003c0013t0001g0088 a0003c0018t0011g0034 a0003c0018t0036g0224 a0003c0024t0004g0228 a0003c0024t0004g0229 a0003c0043t0006g0033 a0003c0064t0011g0230 a0015c0042t0005g0032	10	306	0.0327	8	c.130 others(27): Show c.1308+1067_1308+1068insGATATATT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975514	T T	TATAAATA others(1): Show TATAAATAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02015.hp2 HG02258.hp2 others(9): Show HG00621.hp2 HG02015.hp2 HG02258.hp2 HG02572.hp1 HG02922.hp2 NA18944.hp1 NA18953.hp1 NA18953.hp2 NA18988.hp1 NA18988.hp2 NA19007.hp1 NA19030.hp1	a0002 a0007 a0011 a0002 a0007 a0011	a0002c0003 a0002c0008 a0002c0010 others(4): Show a0002c0003 a0002c0008 a0002c0010 a0002c0025 a0002c0031 a0007c0044 a0011c0034	a0002c0003t0001 a0002c0003t0010 a0002c0008t0001 others(8): Show a0002c0003t0001 a0002c0003t0010 a0002c0008t0001 a0002c0008t0032 a0002c0010t0002 a0002c0010t0004 a0002c0010t0005 a0002c0025t0004 a0002c0031t0002 a0007c0044t0007 a0011c0034t0001	a0002c0003t0001g0264 a0002c0003t0010g0235 a0002c0008t0001g0288 others(9): Show a0002c0003t0001g0264 a0002c0003t0010g0235 a0002c0008t0001g0288 a0002c0008t0001g0303 a0002c0008t0032g0284 a0002c0010t0002g0286 a0002c0010t0004g0296 a0002c0010t0005g0283 a0002c0025t0004g0231 a0002c0031t0002g0237 a0007c0044t0007g0086 a0011c0034t0001g0287	12	306	0.0392	8	c.130 others(27): Show c.1308+1062_1308+1063insGTATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975564	T T	TATATTTA others(1): Show TATATTTAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp1 NA18947.hp1 HG02257.hp2 HG03225.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0066 a0001c0002 a0001c0066	a0001c0002t0002 a0001c0002t0007 a0001c0066t0004 a0001c0002t0002 a0001c0002t0007 a0001c0066t0004	a0001c0002t0002g0173 a0001c0002t0007g0131 a0001c0066t0004g0279 a0001c0002t0002g0173 a0001c0002t0007g0131 a0001c0066t0004g0279	3	306	0.0098	8	c.130 others(27): Show c.1308+1012_1308+1013insTTAAATAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	169003323	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG03225.hp1 HG02717.hp1 HG02818.hp1 HG03225.hp1	a0001 a0001	a0001c0026 a0001c0066 a0001c0026 a0001c0066	a0001c0026t0001 a0001c0066t0004 a0001c0026t0001 a0001c0066t0004	a0001c0026t0001g0280 a0001c0026t0001g0281 a0001c0066t0004g0279 a0001c0026t0001g0280 a0001c0026t0001g0281 a0001c0066t0004g0279	3	306	0.0098	8	c.390 others(25): Show c.390-6609_390-6602dupACACACAC	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	5/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	169016979	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp2 HG02895.hp2 others(1): Show HG01106.hp2 HG02055.hp2 HG02895.hp2 HG02976.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0018 a0003c0043 a0001c0001 a0003c0018 a0003c0043	a0001c0001t0001 a0003c0018t0011 a0003c0018t0036 others(1): Show a0001c0001t0001 a0003c0018t0011 a0003c0018t0036 a0003c0043t0006	a0001c0001t0001g0216 a0003c0018t0011g0034 a0003c0018t0036g0224 others(1): Show a0001c0001t0001g0216 a0003c0018t0011g0034 a0003c0018t0036g0224 a0003c0043t0006g0033	4	306	0.0131	8	c.77- others(21): Show c.77-188_77-181dupGTGTGTGT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	2/27			chr2	TogoVar
ABCB1_chr7_87498017_87605884	87504070	A A	ATGTCTCT others(1): Show ATGTCTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02615.hp1 others(10): Show HG02258.hp1 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02895.hp1 HG02970.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG04228.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0018 others(1): Show a0001c0001 a0001c0003 a0001c0018 a0002c0002	a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 others(4): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0003t0006 a0001c0018t0017 a0002c0002t0011	a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0061 others(10): Show a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0061 a0001c0001t0006g0066 a0001c0001t0006g0238 a0001c0001t0006g0263 a0001c0001t0011g0249 a0001c0001t0015g0028 a0001c0001t0021g0342 a0001c0003t0006g0062 a0001c0003t0006g0081 a0001c0018t0017g0039 a0002c0002t0011g0162	13	352	0.0369	8	c.16 others(17): Show c.165_*172dupGAGAGACA	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	28/28	172		chr7	TogoVar
ABCB1_chr7_87498017_87605884	87530790	A A	AAAGAAAG others(1): Show AAAGAAAGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00642.hp1 others(24): Show HG00408.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG01070.hp2 HG01255.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02071.hp2 HG02280.hp2 HG03491.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 NA18946.hp2 NA18964.hp2 NA18986.hp2 NA18991.hp2 NA19001.hp2 NA19056.hp1 NA19063.hp1 NA19074.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp2 NA19088.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0014 a0001c0001 a0002c0002 a0008c0014	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0008c0014t0001	a0001c0001t0001g0203 a0001c0001t0004g0100 a0002c0002t0001g0004 others(23): Show a0001c0001t0001g0203 a0001c0001t0004g0100 a0002c0002t0001g0004 a0002c0002t0001g0095 a0002c0002t0001g0120 a0002c0002t0001g0129 a0002c0002t0001g0144 a0002c0002t0001g0153 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0173 a0002c0002t0001g0183 a0002c0002t0001g0246 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0325 a0002c0002t0001g0327 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0002g0140 a0002c0002t0002g0152 a0002c0002t0002g0175 a0002c0002t0002g0253 a0002c0002t0011g0162 a0008c0014t0001g0340	27	352	0.0767	8	c.268 others(25): Show c.2685+496_2685+503dupGCTTTCTT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87530796	A A	AGCAAGAA others(1): Show AGCAAGAAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01433.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG01433.hp1 HG03017.hp2 HG04184.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0001 a0001c0001t0003g0027 a0001c0001t0003g0029 others(2): Show a0001c0001t0003g0001 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0015g0028	6	352	0.0171	8	c.268 others(25): Show c.2685+497_2685+498insGTTCTTGC	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87530838	C C	CAAGAAAG others(1): Show CAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(26): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG01934.hp2 HG01975.hp1 HG02015.hp2 HG02056.hp2 HG02080.hp1 HG02145.hp2 HG02148.hp1 HG02630.hp2 HG02698.hp1 HG02818.hp1 HG03239.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp2 NA18612.hp1 NA18955.hp1 NA18971.hp1 NA19003.hp2 NA19007.hp1 NA19079.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0002c0002t0001 a0005c0008t0001	a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0001g0116 others(26): Show a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0239 a0001c0001t0001g0260 a0001c0001t0001g0269 a0001c0001t0001g0282 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0331 a0001c0001t0004g0330 a0001c0005t0001g0126 a0001c0005t0001g0131 a0001c0005t0001g0211 a0002c0002t0001g0320 a0005c0008t0001g0215 a0005c0008t0001g0217	29	352	0.0824	8	c.268 others(25): Show c.2685+448_2685+455dupTCTTTCTT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87589805	G G	GGAGAGAG others(1): Show GGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02145.hp1 others(10): Show HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02615.hp1 HG02615.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03540.hp2 NA18990.hp2 NA21309.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0010	a0001c0001 a0001c0006 a0001c0022 others(3): Show a0001c0001 a0001c0006 a0001c0022 a0003c0004 a0007c0011 a0010c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0006t0004 a0001c0022t0001 a0003c0004t0005 a0007c0011t0001 a0010c0013t0001	a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0314 others(9): Show a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0314 a0001c0001t0004g0264 a0001c0001t0006g0263 a0001c0001t0008g0097 a0001c0001t0009g0267 a0001c0006t0004g0009 a0001c0022t0001g0268 a0003c0004t0005g0016 a0007c0011t0001g0094 a0010c0013t0001g0262	13	352	0.0369	8	c.118 others(25): Show c.118-4133_118-4126dupTCTCTCTC	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	3/27			chr7	TogoVar
ABCB4_chr7_87396696_87480680	87426944	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG02155.hp2 others(8): Show HG00323.hp2 HG01243.hp2 HG02155.hp2 HG02630.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG03942.hp2 NA19058.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0003c0008 a0009c0016	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0005t0001 a0003c0008t0001 a0009c0016t0001	a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0002t0001g0104 others(8): Show a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0002t0001g0104 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0154 a0002c0005t0001g0042 a0002c0005t0001g0046 a0002c0005t0001g0051 a0003c0008t0001g0223 a0009c0016t0001g0232	11	290	0.0379	8	c.189 others(23): Show c.1894-32_1894-25dupACACACAC	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	15/27			chr7	TogoVar
ABCB4_chr7_87396696_87480680	87460622	G G	GTATTTAT others(1): Show GTATTTATT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp2 HG03516.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0026 a0003c0008t0001g0024 a0003c0008t0001g0025 a0001c0001t0001g0026 a0003c0008t0001g0024 a0003c0008t0001g0025	3	290	0.0103	8	c.286 others(25): Show c.286+2128_286+2135dupAATAAATA	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	4/27			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)