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 per page.

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
AAK1_chr2_69452997_69648739	69587360	TATGCGTG others(23): Show TATGCGTGTACACACACATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0231 a0001c0001t0139g0231	1	298	0.0034	-30	c.164 others(49): Show c.164-30412_164-30383delGTGTGTGTATATATGTGTGTGTACAC GCAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAR2_chr20_36231478_36261933	36259299	TCTTATTT others(23): Show TCTTATTTGCAAGGCTGGCTCATCCTATTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	298	0.0034	-30	c.35 others(41): Show c.3555_*3584delCTTATTTGCAAGGCTGGCTCATCCTATTAG	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		2367		chr20	TogoVar
AARS2_chr6_44293731_44318347	44296636	TCCTCTTA others(23): Show TCCTCTTAGTGGAGAAGTGGAGACACCCGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(152): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02129.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19072.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 others(3): Show a0001 a0004 a0008 a0010 a0013 a0014	a0001c0001 a0001c0017 a0001c0020 others(5): Show a0001c0001 a0001c0017 a0001c0020 a0004c0004 a0008c0009 a0010c0016 a0013c0021 a0014c0022	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0017t0020 a0001c0020t0001 a0004c0004t0001 a0008c0009t0012 a0010c0016t0001 a0013c0021t0001 a0014c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0011g0028 a0001c0001t0014g0056 a0001c0001t0016g0057 a0001c0001t0017g0053 a0001c0017t0020g0054 a0001c0020t0001g0064 a0004c0004t0001g0012 a0008c0009t0012g0033 a0010c0016t0001g0067 a0013c0021t0001g0065 a0014c0022t0001g0098	155	396	0.3914	-30	c.38 others(41): Show c.3881_*3910delGCCGGGTGTCTCCACTTCTCCACTAAGAGG	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding		2094		chr6	TogoVar
AATF_chr17_36943954_37061871	37023490	TATTCTTT others(23): Show TATTCTTTTTAAACAGAGTTTAAAAAGAGGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02055.hp1 others(24): Show HG01243.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 NA18522.hp1 NA18906.hp2 NA18992.hp1 NA19043.hp2 NA19054.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0010 a0001c0001 a0001c0003 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0003t0001 a0004c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 others(24): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0170 a0001c0001t0001g0195 a0001c0001t0003g0016 a0001c0001t0006g0222 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0080 a0004c0010t0001g0018	27	245	0.1102	-30	c.154 others(49): Show c.1547+2646_1547+2675delTAAAAAGAGGCATTCTTTTTAAACAG AGTT	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATK_chr17_81112295_81171221	81119647	AGTCACGG others(23): Show AGTCACGGGCCCAGGCCCCGCCTCCCATCAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG00738.hp1 others(61): Show HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01943.hp1 HG02015.hp1 HG02132.hp1 HG02135.hp2 HG02280.hp1 HG02451.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03209.hp1 HG03491.hp2 HG03516.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18943.hp2 NA18949.hp1 NA18955.hp1 NA18960.hp2 NA18964.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18985.hp1 NA18985.hp2 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0006 others(6): Show a0001 a0003 a0006 a0016 a0021 a0022 a0032 a0035 a0037	a0001c0001 a0001c0004 a0001c0011 others(15): Show a0001c0001 a0001c0004 a0001c0011 a0001c0040 a0003c0003 a0003c0007 a0003c0009 a0003c0020 a0003c0024 a0006c0012 a0006c0013 a0006c0069 a0016c0026 a0021c0055 a0022c0054 a0032c0041 a0035c0063 a0037c0036	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(20): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0022 a0001c0004t0001 a0001c0011t0001 a0001c0040t0001 a0003c0003t0001 a0003c0007t0001 a0003c0009t0001 a0003c0009t0005 a0003c0020t0001 a0003c0024t0001 a0006c0012t0001 a0006c0012t0010 a0006c0013t0001 a0006c0069t0001 a0016c0026t0001 a0021c0055t0001 a0022c0054t0001 a0032c0041t0006 a0035c0063t0001 a0037c0036t0001	a0001c0001t0001g0019 a0001c0001t0001g0076 a0001c0001t0001g0098 others(57): Show a0001c0001t0001g0019 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0149 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0331 a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0001t0013g0216 a0001c0001t0022g0346 a0001c0004t0001g0053 a0001c0011t0001g0198 a0001c0011t0001g0249 a0001c0011t0001g0267 a0001c0011t0001g0272 a0001c0011t0001g0277 a0001c0040t0001g0108 a0003c0003t0001g0195 a0003c0007t0001g0121 a0003c0007t0001g0190 a0003c0007t0001g0235 a0003c0007t0001g0262 a0003c0007t0001g0268 a0003c0007t0001g0271 a0003c0007t0001g0276 a0003c0007t0001g0278 a0003c0007t0001g0286 a0003c0007t0001g0311 a0003c0009t0001g0046 a0003c0009t0001g0062 a0003c0009t0001g0326 a0003c0009t0005g0027 a0003c0020t0001g0008 a0003c0024t0001g0082 a0003c0024t0001g0191 a0006c0012t0001g0146 a0006c0012t0001g0226 a0006c0012t0010g0106 a0006c0012t0010g0250 a0006c0013t0001g0013 a0006c0013t0001g0205 a0006c0013t0001g0224 a0006c0069t0001g0340 a0016c0026t0001g0011 a0021c0055t0001g0099 a0022c0054t0001g0225 a0032c0041t0006g0341 a0035c0063t0001g0111 a0037c0036t0001g0079	64	368	0.1739	-30	c.388 others(45): Show c.3884-97_3884-68delATGATGGGAGGCGGGGCCTGGGCCCGTGAC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	12/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81119675	CATGTCAC others(23): Show CATGTCACGGGCCCAGGCCCCGCCTCCCATG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02258.hp1 others(7): Show HG01167.hp2 HG01169.hp2 HG02258.hp1 HG02723.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1	a0009 a0019 a0020 others(2): Show a0009 a0019 a0020 a0025 a0027	a0009c0019 a0009c0025 a0009c0065 others(4): Show a0009c0019 a0009c0025 a0009c0065 a0019c0067 a0020c0068 a0025c0070 a0027c0048	a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 others(4): Show a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 a0019c0067t0004 a0020c0068t0004 a0025c0070t0004 a0027c0048t0004	a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 others(7): Show a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 a0009c0025t0004g0334 a0009c0025t0004g0336 a0009c0065t0004g0236 a0019c0067t0004g0333 a0020c0068t0004g0231 a0025c0070t0004g0183 a0027c0048t0004g0310	10	368	0.0272	-30	c.388 others(46): Show c.3884-125_3884-96delCATGGGAGGCGGGGCCTGGGCCCGTGACA T	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	12/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8772252	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00673.hp2 others(50): Show HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01243.hp2 HG01346.hp2 HG01516.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02293.hp2 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG03453.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp2 NA18942.hp2 NA18945.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18979.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA19009.hp1 NA19057.hp2 NA19058.hp2 NA19066.hp1 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0006c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0022 a0001c0001t0025 a0001c0001t0040 a0001c0001t0042 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0038 a0002c0006t0001 a0002c0006t0005 a0006c0020t0005	a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0081 others(50): Show a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0001g0253 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0002g0112 a0001c0001t0002g0248 a0001c0001t0003g0071 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0004g0080 a0001c0001t0004g0096 a0001c0001t0004g0109 a0001c0001t0004g0273 a0001c0001t0005g0052 a0001c0001t0005g0127 a0001c0001t0005g0232 a0001c0001t0022g0037 a0001c0001t0025g0264 a0001c0001t0040g0292 a0001c0001t0042g0087 a0002c0002t0001g0140 a0002c0002t0001g0144 a0002c0002t0001g0170 a0002c0002t0001g0209 a0002c0002t0001g0270 a0002c0002t0001g0345 a0002c0002t0002g0006 a0002c0002t0002g0069 a0002c0002t0003g0094 a0002c0002t0003g0139 a0002c0002t0004g0074 a0002c0002t0004g0079 a0002c0002t0005g0243 a0002c0002t0005g0343 a0002c0002t0038g0166 a0002c0006t0001g0124 a0002c0006t0005g0129 a0006c0020t0005g0328	53	362	0.1464	-30	c.817 others(45): Show c.817-505_817-476delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69146164	AATATATA others(23): Show AATATATATACGGAATATATATATACGGAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(134): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp2 NA18948.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18988.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(6): Show a0002 a0003 a0005 a0009 a0010 a0020 a0021 a0022 a0023	a0002c0002 a0002c0015 a0003c0003 others(9): Show a0002c0002 a0002c0015 a0003c0003 a0003c0025 a0005c0013 a0005c0014 a0009c0018 a0010c0010 a0020c0031 a0021c0023 a0022c0024 a0023c0026	a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 others(12): Show a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 a0003c0003t0001 a0003c0003t0005 a0003c0003t0016 a0003c0025t0001 a0005c0013t0001 a0005c0014t0001 a0009c0018t0001 a0010c0010t0006 a0020c0031t0001 a0021c0023t0001 a0022c0024t0001 a0023c0026t0001	a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0015 others(132): Show a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0076 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0183 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0246 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0005g0312 a0002c0002t0005g0313 a0002c0002t0005g0314 a0002c0002t0005g0315 a0002c0015t0001g0003 a0003c0003t0001g0013 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0041 a0003c0003t0001g0052 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0071 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0094 a0003c0003t0001g0103 a0003c0003t0001g0110 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0118 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0137 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0182 a0003c0003t0001g0198 a0003c0003t0001g0201 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0212 a0003c0003t0001g0249 a0003c0003t0001g0261 a0003c0003t0001g0302 a0003c0003t0001g0306 a0003c0003t0005g0309 a0003c0003t0005g0318 a0003c0003t0005g0319 a0003c0003t0005g0320 a0003c0003t0005g0321 a0003c0003t0005g0322 a0003c0003t0005g0323 a0003c0003t0016g0308 a0003c0025t0001g0042 a0005c0013t0001g0039 a0005c0013t0001g0049 a0005c0014t0001g0139 a0005c0014t0001g0223 a0009c0018t0001g0102 a0010c0010t0006g0194 a0020c0031t0001g0069 a0021c0023t0001g0211 a0022c0024t0001g0303 a0023c0026t0001g0070	137	348	0.3937	-30	c.26 others(41): Show c.2633_*2662delATTCCGTATATATATATTCCGTATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1842		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69146239	TATATATA others(23): Show TATATATATATACGGAATATATATATACGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0152 a0004c0006t0003g0152	1	348	0.0029	-30	c.25 others(41): Show c.2558_*2587delTCCGTATATATATATTCCGTATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1767		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211302	CATCATAT others(23): Show CATCATATATATGATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01109.hp2 others(23): Show HG00639.hp1 HG01099.hp2 HG01109.hp2 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp2	a0005 a0006 a0005 a0006	a0005c0005 a0005c0013 a0005c0014 others(2): Show a0005c0005 a0005c0013 a0005c0014 a0006c0007 a0006c0016	a0005c0005t0004 a0005c0005t0015 a0005c0013t0001 others(4): Show a0005c0005t0004 a0005c0005t0015 a0005c0013t0001 a0005c0014t0001 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004	a0005c0005t0004g0184 a0005c0005t0004g0213 a0005c0005t0004g0214 others(23): Show a0005c0005t0004g0184 a0005c0005t0004g0213 a0005c0005t0004g0214 a0005c0005t0004g0218 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0262 a0005c0005t0015g0217 a0005c0013t0001g0039 a0005c0013t0001g0049 a0005c0014t0001g0139 a0005c0014t0001g0223 a0006c0007t0004g0111 a0006c0007t0004g0185 a0006c0007t0004g0187 a0006c0007t0004g0188 a0006c0007t0004g0190 a0006c0007t0004g0191 a0006c0007t0004g0192 a0006c0007t0004g0195 a0006c0007t0010g0340 a0006c0007t0010g0341 a0006c0016t0004g0186 a0006c0016t0004g0189	26	348	0.0747	-30	c.100 others(49): Show c.1006+3372_1006+3401delATATATATATATATATATCATATATA TGAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	215071196	CAAATAAA others(23): Show CAAATAAAATAAAATAAAATAAAATAAAATA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03516.hp2 NA18906.hp1 HG02809.hp1 HG03516.hp2 NA18906.hp1	a0004 a0004	a0004c0018 a0004c0059 a0004c0061 a0004c0018 a0004c0059 a0004c0061	a0004c0018t0005 a0004c0059t0004 a0004c0061t0015 a0004c0018t0005 a0004c0059t0004 a0004c0061t0015	a0004c0018t0005g0095 a0004c0059t0004g0071 a0004c0061t0015g0181 a0004c0018t0005g0095 a0004c0059t0004g0071 a0004c0061t0015g0181	3	198	0.0152	-30	c.164 others(47): Show c.164-7007_164-6978delTATTTTATTTTATTTTATTTTATTTTAT TT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48411019	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0005 a0008c0013t0005	a0008c0013t0005g0045 a0008c0013t0005g0045	1	178	0.0056	-30	c.122 others(49): Show c.12228+366_12228+395delCTTTCTTTTTCTTTCTTTCTTTCTTT CTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA4_chr1_93987834_94126148	94116955	CCTTTCTT others(23): Show CCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0228 a0001c0004t0001g0228	1	306	0.0033	-30	c.67- others(45): Show c.67-3919_67-3890delAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA6_chr17_69073702_69146895	69146164	AATATATA others(23): Show AATATATATACGGAATATATATATACGGAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(117): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18940.hp2 NA18942.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18982.hp2 NA18987.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0007 a0009 a0014 a0015 a0022 a0025	a0001c0001 a0003c0003 a0004c0004 others(7): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005 a0007c0006 a0009c0011 a0014c0018 a0015c0017 a0022c0026 a0025c0015	a0001c0001t0001 a0003c0003t0001 a0004c0004t0002 others(8): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0002 a0005c0005t0002 a0007c0006t0001 a0007c0006t0002 a0009c0011t0001 a0014c0018t0002 a0015c0017t0001 a0022c0026t0002 a0025c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(99): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0282 a0003c0003t0001g0031 a0004c0004t0002g0147 a0005c0005t0002g0007 a0005c0005t0002g0154 a0007c0006t0001g0059 a0007c0006t0001g0087 a0007c0006t0001g0088 a0007c0006t0001g0104 a0007c0006t0001g0105 a0007c0006t0002g0034 a0007c0006t0002g0055 a0007c0006t0002g0099 a0009c0011t0001g0043 a0014c0018t0002g0058 a0015c0017t0001g0100 a0022c0026t0002g0106 a0025c0015t0001g0046	120	326	0.3681	-30	c.-44 others(41): Show c.-4495_-4466delATTCCGTATATATATATTCCGTATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4270		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922190	CTCTCTTT others(23): Show CTCTCTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0001 a0002c0034t0001	a0002c0034t0001g0006 a0002c0034t0001g0006	1	274	0.0037	-30	c.150 others(45): Show c.1501+22_1501+51delAAAAAAAAAAAAAAAAAAAAAAAAAAGAGA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCB5_chr7_20610667_20762008	20667668	TCTGCCCC others(23): Show TCTGCCCCTGCCCCTGCCCCTGCCCCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp2 HG02451.hp2 others(13): Show HG01255.hp2 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02922.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03942.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0007 a0010 a0011 a0019 a0022 a0023 a0027 a0048 a0053	a0001c0001 a0002c0012 a0002c0035 others(13): Show a0001c0001 a0002c0012 a0002c0035 a0002c0041 a0004c0008 a0005c0015 a0007c0011 a0010c0026 a0010c0042 a0011c0017 a0019c0036 a0022c0089 a0023c0046 a0027c0028 a0048c0078 a0053c0090	a0001c0001t0001 a0002c0012t0001 a0002c0035t0001 others(13): Show a0001c0001t0001 a0002c0012t0001 a0002c0035t0001 a0002c0041t0001 a0004c0008t0005 a0005c0015t0004 a0007c0011t0004 a0010c0026t0004 a0010c0042t0004 a0011c0017t0003 a0019c0036t0001 a0022c0089t0004 a0023c0046t0001 a0027c0028t0001 a0048c0078t0004 a0053c0090t0004	a0001c0001t0001g0346 a0002c0012t0001g0121 a0002c0035t0001g0070 others(13): Show a0001c0001t0001g0346 a0002c0012t0001g0121 a0002c0035t0001g0070 a0002c0041t0001g0119 a0004c0008t0005g0341 a0005c0015t0004g0310 a0007c0011t0004g0124 a0010c0026t0004g0126 a0010c0042t0004g0120 a0011c0017t0003g0050 a0019c0036t0001g0071 a0022c0089t0004g0069 a0023c0046t0001g0089 a0027c0028t0001g0343 a0048c0078t0004g0342 a0053c0090t0004g0125	16	360	0.0444	-30	c.170 others(49): Show c.1707+9028_1707+9057delCCTGCCCCTGCCCCTGCCCCTGCCCC TGCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC10_chr6_43422541_43455427	43424475	AGGCATGT others(23): Show AGGCATGTTGGCTCATGTCTGCAATTCCAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	342	0.0029	-30	c.-32 others(41): Show c.-3293_-3264delGGCATGTTGGCTCATGTCTGCAATTCCAGC	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding		3065		chr6	TogoVar
ABCC2_chr10_99777640_99857594	99814132	TGTATATA others(23): Show TGTATATATACACACATGTATGTATACACAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0036 a0004c0006t0001g0036	1	336	0.0030	-30	c.209 others(49): Show c.2094+1019_2094+1048delGTATATATACACACATGTATGTATAC ACAC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814309	GTATATAC others(23): Show GTATATACACACGTATGTATACACACATGTA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18950.hp1 HG03098.hp2 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0065 a0001c0002t0003g0033 a0001c0002t0002g0065 a0001c0002t0003g0033	2	336	0.0060	-30	c.209 others(49): Show c.2094+1206_2094+1235delCGTATGTATACACACATGTATATATA CACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC4_chr13_95014835_95306451	95029197	TATATATA others(23): Show TATATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00280.hp1 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0189 a0001c0001t0002g0066 a0001c0001t0001g0189 a0001c0001t0002g0066	2	248	0.0081	-30	c.387 others(49): Show c.3870+5378_3870+5407delCTCTCTCTCTCTCTATATATATATAT ATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029199	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19084.hp2 HG02738.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0014 a0002c0005t0002 a0001c0003t0014 a0002c0005t0002	a0001c0003t0014g0082 a0002c0005t0002g0232 a0001c0003t0014g0082 a0002c0005t0002g0232	2	248	0.0081	-30	c.387 others(49): Show c.3870+5376_3870+5405delCTCTCTCTCTCTCTCTATATATATAT ATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029201	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02886.hp2 HG01099.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0002 a0002c0005t0002 a0001c0002t0002 a0002c0005t0002	a0001c0002t0002g0165 a0002c0005t0002g0017 a0001c0002t0002g0165 a0002c0005t0002g0017	2	248	0.0081	-30	c.387 others(49): Show c.3870+5374_3870+5403delCTCTCTCTCTCTCTCTCTATATATAT ATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029207	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0036	1	248	0.0040	-30	c.387 others(49): Show c.3870+5368_3870+5397delCTCTCTCTCTCTCTCTCTCTCTCTAT ATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029209	TATATAGA others(23): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0010 a0010	a0010c0034 a0010c0034	a0010c0034t0001 a0010c0034t0001	a0010c0034t0001g0001 a0010c0034t0001g0001	1	248	0.0040	-30	c.387 others(49): Show c.3870+5366_3870+5395delCTCTCTCTCTCTCTCTCTCTCTCTCT ATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029211	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0081 a0001c0012t0001g0081	1	248	0.0040	-30	c.387 others(49): Show c.3870+5364_3870+5393delCTCTCTCTCTCTCTCTCTCTCTCTCT CTAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029225	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01975.hp2 HG02055.hp2 others(14): Show HG01109.hp2 HG01975.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03471.hp2 HG03579.hp2 NA18906.hp2 NA18959.hp2 NA18983.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0007 a0001c0009 others(12): Show a0001c0002 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0024 a0001c0025 a0001c0041 a0001c0042 a0001c0044 a0001c0067 a0002c0015 a0002c0020 a0002c0060 a0004c0006	a0001c0002t0002 a0001c0007t0019 a0001c0009t0001 others(12): Show a0001c0002t0002 a0001c0007t0019 a0001c0009t0001 a0001c0010t0001 a0001c0013t0001 a0001c0024t0001 a0001c0025t0009 a0001c0041t0009 a0001c0042t0004 a0001c0044t0004 a0001c0067t0004 a0002c0015t0001 a0002c0020t0004 a0002c0060t0004 a0004c0006t0001	a0001c0002t0002g0195 a0001c0007t0019g0026 a0001c0009t0001g0128 others(14): Show a0001c0002t0002g0195 a0001c0007t0019g0026 a0001c0009t0001g0128 a0001c0010t0001g0150 a0001c0013t0001g0037 a0001c0024t0001g0118 a0001c0025t0009g0121 a0001c0041t0009g0127 a0001c0042t0004g0040 a0001c0044t0004g0117 a0001c0067t0004g0074 a0002c0015t0001g0025 a0002c0020t0004g0016 a0002c0020t0004g0057 a0002c0020t0004g0130 a0002c0060t0004g0022 a0004c0006t0001g0157	17	248	0.0686	-30	c.387 others(49): Show c.3870+5350_3870+5379delTTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95218913	GAGAGAGA others(23): Show GAGAGAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19060.hp1 NA18968.hp2 NA19060.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0144 a0003c0008t0001g0141 a0001c0001t0001g0144 a0003c0008t0001g0141	2	248	0.0081	-30	c.532 others(47): Show c.532-8162_532-8133delTTCTTTCTTTCTTTCTCTTTCTTTCTCT CT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC8_chr11_17387885_17481845	17450244	TTTTCTTT others(23): Show TTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0009 a0001c0014t0002g0009	1	330	0.0030	-30	c.117 others(49): Show c.1177-1603_1177-1574delGAAAGAAAGAAAGAGAAAGAAAGAAA GAAA	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	7/38			chr11	TogoVar
ABHD18_chr4_127960406_128044953	128029795	GCCTGAGT others(23): Show GCCTGAGTGACAGAGTGAGACTCCATCTCAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0111 a0001c0001t0024g0111	1	344	0.0029	-30	c.118 others(47): Show c.1181-714_1181-685delCCTGAGTGACAGAGTGAGACTCCATCTC AA	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	11/12			chr4	TogoVar
ABHD2_chr15_89083456_89207355	89115367	GGTATGTG others(23): Show GGTATGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03486.hp1 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0002g0219 a0001c0001t0001g0148 a0001c0001t0002g0219	2	234	0.0086	-30	c.-6- others(43): Show c.-6-952_-6-923delATGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABI1_chr10_26741596_26865958	26843467	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0348 a0001c0001t0006g0348	1	358	0.0028	-30	c.117 others(49): Show c.117+17250_117+17279delATATATATATATTTTTTTTTTTTTTT TTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203338920	GTGTGTGT others(23): Show GTGTGTGTGTATATGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18747.hp2 NA18960.hp1 others(1): Show HG02293.hp2 NA18747.hp2 NA18960.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0105 a0001c0001t0005g0109 a0001c0001t0005g0110 others(1): Show a0001c0001t0005g0105 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0013g0104	4	320	0.0125	-30	c.117 others(49): Show c.117+10291_117+10320delGTGTGTGTATATGTATATATATATAT ATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338922	GTGTGTGT others(23): Show GTGTGTGTATATGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0156 a0001c0001t0005g0156	1	320	0.0031	-30	c.117 others(49): Show c.117+10293_117+10322delGTGTGTATATGTATATATATATATAT ATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338926	GTGTATAT others(23): Show GTGTATATGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp2 NA18966.hp2 HG01891.hp2 HG02896.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0289 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0289	3	320	0.0094	-30	c.117 others(49): Show c.117+10297_117+10326delGTATATGTATATATATATATATATAT ATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338953	TATATATA others(23): Show TATATATATAAATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0180 a0001c0001t0006g0180	1	320	0.0031	-30	c.117 others(49): Show c.117+10332_117+10361delAATATATATATATATATATAAATATA TATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABLIM1_chr10_114426112_114663275	114583446	CACACACA others(23): Show CACACACACACACACACACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0012 a0001c0002t0033g0012	1	256	0.0039	-30	c.380 others(47): Show c.380-7877_380-7848delATATATATGTGTGTGTGTGTGTGTGTGT GT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583448	CACACACA others(23): Show CACACACACACACACACACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0012 a0004c0023t0012	a0004c0023t0012g0134 a0004c0023t0012g0134	1	256	0.0039	-30	c.380 others(47): Show c.380-7879_380-7850delATATATATATGTGTGTGTGTGTGTGTGT GT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583450	CACACACA others(23): Show CACACACACACACACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0112 a0001c0002t0026g0112	1	256	0.0039	-30	c.380 others(47): Show c.380-7881_380-7852delATATATATATATGTGTGTGTGTGTGTGT GT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583452	CACACACA others(23): Show CACACACACACACACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0008 a0001c0002t0050g0008	1	256	0.0039	-30	c.380 others(47): Show c.380-7883_380-7854delATATATATATATATGTGTGTGTGTGTGT GT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583460	CACACACA others(23): Show CACACACACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03195.hp2 NA18612.hp2 others(1): Show HG00099.hp2 HG03195.hp2 NA18612.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0034 a0001c0002t0070 a0001c0002t0133 others(1): Show a0001c0002t0034 a0001c0002t0070 a0001c0002t0133 a0004c0008t0012	a0001c0002t0034g0062 a0001c0002t0070g0227 a0001c0002t0133g0237 others(1): Show a0001c0002t0034g0062 a0001c0002t0070g0227 a0001c0002t0133g0237 a0004c0008t0012g0031	4	256	0.0156	-30	c.380 others(47): Show c.380-7891_380-7862delATATATATATATATATATATATGTGTGT GT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7976662	AACACATG others(23): Show AACACATGCACACACACACATGTGCATGCAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG03139.hp1 others(1): Show HG02280.hp2 HG02451.hp1 HG03139.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017	a0001c0001t0012g0008 a0001c0001t0012g0253 a0001c0001t0014g0038 others(1): Show a0001c0001t0012g0008 a0001c0001t0012g0253 a0001c0001t0014g0038 a0001c0001t0017g0203	4	322	0.0124	-30	c.182 others(49): Show c.1824+6572_1824+6601delGTGCATGCACATGTGTGTGTGTGCAT GTGT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149208366	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCAATTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00741.hp2 HG00323.hp1 HG00642.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0156 a0001c0001t0002g0178 a0001c0001t0002g0127 a0001c0001t0002g0156 a0001c0001t0002g0178	3	258	0.0116	-30	c.575 others(47): Show c.575+1244_575+1273delCTCTCTCTCAATTTCTCTTTCTCTCTCT CT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	1057308	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(46): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00597.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02080.hp2 HG02273.hp1 HG02572.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03041.hp2 HG03688.hp2 HG03927.hp1 HG04228.hp1 HG06807.hp1 NA18944.hp1 NA18954.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19002.hp2 NA19005.hp2 NA19065.hp2 NA19070.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032 a0001c0001t0049 a0001c0001t0065 a0001c0001t0082 a0001c0001t0086 a0001c0001t0088 a0001c0003t0012 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0083 a0001c0004t0037 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0089 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0214 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0003g0062 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0117 a0001c0001t0003g0168 a0001c0001t0003g0222 a0001c0001t0004g0258 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0254 a0001c0001t0005g0277 a0001c0001t0005g0318 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0007g0306 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0008g0042 a0001c0001t0011g0125 a0001c0001t0019g0057 a0001c0001t0020g0161 a0001c0001t0022g0047 a0001c0001t0032g0259 a0001c0001t0049g0193 a0001c0001t0065g0137 a0001c0001t0082g0302 a0001c0001t0086g0294 a0001c0001t0088g0299 a0001c0003t0012g0105 a0001c0003t0012g0119 a0001c0003t0016g0163 a0001c0003t0016g0218 a0001c0003t0017g0120 a0001c0003t0021g0276 a0001c0003t0083g0285 a0001c0004t0037g0017 a0001c0010t0001g0139	49	337	0.1454	-30	c.138 others(47): Show c.1382-236_1382-207delCACACACACACACACACACACACACACA CA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	12/22			chr17	TogoVar
ABR_chr17_998519_1184981	1117827	CCCTGAGC others(23): Show CCCTGAGCCTGAGTCCCTCCCAGCGTTATTG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA21309.hp1 HG01074.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0048 a0002c0005t0001 a0001c0004t0048 a0002c0005t0001	a0001c0004t0048g0198 a0002c0005t0001g0197 a0001c0004t0048g0198 a0002c0005t0001g0197	2	337	0.0059	-30	c.246 others(47): Show c.246+7326_246+7355delCAATAACGCTGGGAGGGACTCAGGCTCA GG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1117855	TTGCCTGA others(23): Show TTGCCTGAGCCTGAGTCCCTCCCAGCGTTAA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	337	0.0030	-30	c.246 others(47): Show c.246+7298_246+7327delTTAACGCTGGGAGGGACTCAGGCTCAGG CA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118971	TCCCCAGC others(23): Show TCCCCAGCGTTATCCCTGAGCCTGAGTTCCC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0160 a0001c0001t0068g0160	1	337	0.0030	-30	c.246 others(47): Show c.246+6182_246+6211delGGGAACTCAGGCTCAGGGATAACGCTGG GG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119318	TCCCCAGC others(23): Show TCCCCAGCGTTATCCCTGAGCCTGAGTTCCT	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0300 a0001c0001t0010g0300	1	337	0.0030	-30	c.246 others(47): Show c.246+5835_246+5864delAGGAACTCAGGCTCAGGGATAACGCTGG GG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153504	TCCAGGCA others(23): Show TCCAGGCACACCTGCGGGGAGGGCTGGGGAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01109.hp2 others(21): Show HG00639.hp1 HG00738.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG03041.hp1 HG03486.hp2 HG03669.hp2 HG06807.hp1 NA18947.hp1 NA19043.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0027 a0001c0001t0031 a0001c0001t0034 a0001c0001t0039 a0001c0001t0045 a0001c0001t0084 a0001c0002t0008 a0001c0002t0011 a0001c0002t0038 a0001c0003t0083 a0001c0004t0037 a0002c0005t0001	a0001c0001t0001g0071 a0001c0001t0001g0098 a0001c0001t0001g0224 others(21): Show a0001c0001t0001g0071 a0001c0001t0001g0098 a0001c0001t0001g0224 a0001c0001t0003g0059 a0001c0001t0003g0121 a0001c0001t0007g0280 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0010g0300 a0001c0001t0011g0167 a0001c0001t0021g0284 a0001c0001t0027g0039 a0001c0001t0031g0240 a0001c0001t0034g0003 a0001c0001t0039g0010 a0001c0001t0045g0247 a0001c0001t0084g0330 a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0002t0038g0013 a0001c0003t0083g0285 a0001c0004t0037g0017 a0002c0005t0001g0186	24	337	0.0712	-30	c.61+ others(47): Show c.61+26133_61+26162delGTCCCCAGCCCTCCCCGCAGGTGTGCCT GG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1159640	TATGCGGT others(23): Show TATGCGGTACTCACACACAGGAGAAGTAAGA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02572.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0044 a0001c0003t0016 a0001c0001t0044 a0001c0003t0016	a0001c0001t0044g0021 a0001c0003t0016g0163 a0001c0001t0044g0021 a0001c0003t0016g0163	2	337	0.0059	-30	c.61+ others(47): Show c.61+19997_61+20026delTCTTACTTCTCCTGTGTGTGAGTACCGC AT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1159666	TAAGAATG others(23): Show TAAGAATGCGGTACTCACACACAGGAGAAGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(129): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19080.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0013 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0049 a0001c0001t0057 a0001c0001t0059 a0001c0001t0063 a0001c0001t0067 a0001c0001t0069 a0001c0001t0072 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0087 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0056 a0001c0003t0012 a0001c0003t0023 a0001c0003t0025 a0001c0003t0080 a0001c0010t0001 a0001c0013t0018 a0001c0014t0010	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0058 others(128): Show a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0002g0053 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0114 a0001c0001t0002g0131 a0001c0001t0002g0145 a0001c0001t0002g0170 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0209 a0001c0001t0003g0068 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0092 a0001c0001t0003g0117 a0001c0001t0003g0130 a0001c0001t0003g0150 a0001c0001t0003g0168 a0001c0001t0003g0192 a0001c0001t0003g0200 a0001c0001t0003g0217 a0001c0001t0003g0222 a0001c0001t0003g0237 a0001c0001t0004g0248 a0001c0001t0004g0252 a0001c0001t0004g0290 a0001c0001t0004g0297 a0001c0001t0004g0319 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0254 a0001c0001t0005g0266 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0291 a0001c0001t0005g0296 a0001c0001t0005g0304 a0001c0001t0005g0318 a0001c0001t0005g0322 a0001c0001t0006g0055 a0001c0001t0006g0077 a0001c0001t0006g0090 a0001c0001t0006g0118 a0001c0001t0006g0141 a0001c0001t0006g0147 a0001c0001t0006g0206 a0001c0001t0006g0208 a0001c0001t0007g0249 a0001c0001t0007g0306 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0008g0042 a0001c0001t0009g0004 a0001c0001t0009g0023 a0001c0001t0009g0050 a0001c0001t0010g0274 a0001c0001t0010g0321 a0001c0001t0011g0232 a0001c0001t0011g0238 a0001c0001t0011g0246 a0001c0001t0012g0093 a0001c0001t0013g0048 a0001c0001t0013g0049 a0001c0001t0014g0097 a0001c0001t0014g0103 a0001c0001t0015g0265 a0001c0001t0015g0275 a0001c0001t0015g0292 a0001c0001t0019g0057 a0001c0001t0019g0211 a0001c0001t0021g0272 a0001c0001t0022g0047 a0001c0001t0031g0240 a0001c0001t0032g0303 a0001c0001t0036g0044 a0001c0001t0049g0193 a0001c0001t0057g0174 a0001c0001t0059g0166 a0001c0001t0063g0189 a0001c0001t0067g0091 a0001c0001t0069g0153 a0001c0001t0072g0175 a0001c0001t0074g0115 a0001c0001t0076g0171 a0001c0001t0077g0067 a0001c0001t0079g0267 a0001c0001t0081g0253 a0001c0001t0082g0302 a0001c0001t0087g0311 a0001c0002t0001g0164 a0001c0002t0001g0205 a0001c0002t0002g0100 a0001c0002t0002g0172 a0001c0002t0012g0244 a0001c0002t0056g0155 a0001c0003t0012g0119 a0001c0003t0023g0005 a0001c0003t0025g0006 a0001c0003t0025g0009 a0001c0003t0080g0287 a0001c0010t0001g0139 a0001c0013t0018g0108 a0001c0014t0010g0307	132	337	0.3917	-30	c.61+ others(47): Show c.61+19971_61+20000delGCTTCTCCTGTGTGTGAGTACCGCATTC TT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar

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