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
A4GALT_chr22_42687121_42725870	42723712	C C	CATTCATT others(18): Show CATTCATTCATCAAATGTCTGATGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0170 a0001c0002t0005g0170	1	406	0.0025	25	c.-31 others(36): Show c.-3104_-3103insTTCATCAGACATTTGATGAATGAAT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		2843		chr22	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0160 a0002c0002t0003g0160	1	380	0.0026	25	c.535 others(42): Show c.535+9531_535+9532insGTGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02818.hp1 HG03579.hp2 HG02074.hp2 HG02818.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0002c0016 a0001c0003 a0001c0006 a0002c0016	a0001c0003t0106 a0001c0006t0028 a0002c0016t0103 a0001c0003t0106 a0001c0006t0028 a0002c0016t0103	a0001c0003t0106g0141 a0001c0006t0028g0126 a0002c0016t0103g0106 a0001c0003t0106g0141 a0001c0006t0028g0126 a0002c0016t0103g0106	3	298	0.0101	25	c.236 others(44): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AARS1_chr16_70247298_70294506	70289755	C C	CCCGCCCC others(18): Show CCCGCCCCCCCCCCCGCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	362	0.0028	25	c.-35 others(34): Show c.-357_-356insCGGGGGGGGGCGGGGGGGGGGGCGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		250		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289756	C C	CCCGCCCC others(18): Show CCCGCCCCCCCCCCCGCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	362	0.0028	25	c.-35 others(34): Show c.-358_-357insCGGGGGGGGGCGGGGGGGGGGGCGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		251		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289756	C C	CCGCCCCC others(18): Show CCGCCCCCCCCCCCGCCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	362	0.0028	25	c.-35 others(34): Show c.-358_-357insCGGGGGGGGGGCGGGGGGGGGGGCG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		251		chr16	TogoVar
AARS1_chr16_70247298_70294506	70293597	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02630.hp2 HG02809.hp1 others(2): Show HG01123.hp1 HG02630.hp2 HG02809.hp1 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0095 a0001c0001t0002g0330	5	362	0.0138	25	c.-42 others(36): Show c.-4223_-4199dupAAAAAAAAAAAAAAAAAAAAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		4092		chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG04199.hp2 NA18946.hp1 others(3): Show HG02165.hp2 HG04199.hp2 NA18946.hp1 NA18983.hp1 NA19058.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0028 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0028 a0001c0003t0003 a0001c0003t0004 a0001c0003t0044	a0001c0001t0001g0185 a0001c0001t0028g0061 a0001c0003t0003g0119 others(3): Show a0001c0001t0001g0185 a0001c0001t0028g0061 a0001c0003t0003g0119 a0001c0003t0003g0155 a0001c0003t0004g0279 a0001c0003t0044g0261	6	362	0.0166	25	c.-41 others(44): Show c.-41-24969_-41-24968insAGAGAGAGAGAGGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69146397	T T	TATATATA others(18): Show TATATATATGGAATATATAATATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0006 a0003c0028t0006	a0003c0028t0006g0248 a0003c0028t0006g0248	1	348	0.0029	25	c.24 others(36): Show c.2429_*2430insTCCATATTATATATTCCATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1609		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210865	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0334 a0007c0008t0007g0334	1	348	0.0029	25	c.100 others(44): Show c.1006+3838_1006+3839insTATATATATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA13_chr7_48166458_48652497	48395158	A A	ATGGGCAT others(18): Show ATGGGCATGAGGCCTCTGGAGAGTGC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0037 a0037	a0037c0100 a0037c0100	a0037c0100t0001 a0037c0100t0001	a0037c0100t0001g0041 a0037c0100t0001g0041	1	178	0.0056	25	c.118 others(46): Show c.11873+3022_11873+3046dupGGCATGAGGCCTCTGGAGAGTGCT G	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411291	C C	CTTCTTTT others(18): Show CTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02970.hp2 HG03041.hp1 others(4): Show HG02630.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 NA18953.hp2 NA19062.hp2	a0009 a0010 a0014 others(3): Show a0009 a0010 a0014 a0034 a0035 a0063	a0009c0012 a0010c0031 a0014c0019 others(3): Show a0009c0012 a0010c0031 a0014c0019 a0034c0105 a0035c0106 a0063c0071	a0009c0012t0002 a0010c0031t0003 a0014c0019t0002 others(3): Show a0009c0012t0002 a0010c0031t0003 a0014c0019t0002 a0034c0105t0005 a0035c0106t0005 a0063c0071t0005	a0009c0012t0002g0072 a0010c0031t0003g0118 a0014c0019t0002g0136 others(4): Show a0009c0012t0002g0072 a0010c0031t0003g0118 a0014c0019t0002g0136 a0014c0019t0002g0175 a0034c0105t0005g0037 a0035c0106t0005g0006 a0063c0071t0005g0105	7	178	0.0393	25	c.122 others(44): Show c.12228+626_12228+650dupTCTTTTCTTTTCTTTTCTTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862413	T T	TTTGCTTT others(18): Show TTTGCTTTTCAAGCAAGAAGTCAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp1 others(115): Show HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0018 a0019 a0022 a0023 a0025 a0033 a0035	a0001c0001 a0002c0011 a0002c0015 others(51): Show a0001c0001 a0002c0011 a0002c0015 a0002c0017 a0002c0025 a0002c0032 a0002c0037 a0002c0046 a0002c0058 a0002c0059 a0002c0075 a0002c0085 a0003c0002 a0003c0009 a0003c0038 a0003c0076 a0003c0077 a0004c0044 a0004c0112 a0004c0113 a0004c0114 a0005c0016 a0005c0026 a0005c0036 a0005c0052 a0005c0070 a0005c0071 a0005c0082 a0006c0004 a0008c0006 a0008c0048 a0008c0049 a0009c0018 a0009c0021 a0009c0027 a0009c0028 a0010c0007 a0010c0030 a0011c0010 a0011c0055 a0012c0040 a0012c0041 a0013c0013 a0014c0023 a0014c0053 a0016c0019 a0018c0079 a0018c0080 a0019c0106 a0022c0050 a0023c0072 a0025c0083 a0033c0101 a0035c0091	a0001c0001t0001 a0002c0011t0004 a0002c0011t0007 others(82): Show a0001c0001t0001 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0015t0002 a0002c0015t0004 a0002c0015t0013 a0002c0017t0026 a0002c0025t0007 a0002c0025t0008 a0002c0032t0001 a0002c0037t0001 a0002c0046t0002 a0002c0058t0007 a0002c0059t0001 a0002c0075t0027 a0002c0085t0008 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0010 a0003c0002t0014 a0003c0002t0028 a0003c0002t0050 a0003c0009t0001 a0003c0009t0003 a0003c0009t0006 a0003c0009t0051 a0003c0038t0005 a0003c0076t0002 a0003c0077t0005 a0004c0044t0007 a0004c0112t0005 a0004c0113t0002 a0004c0114t0005 a0005c0016t0001 a0005c0016t0011 a0005c0026t0004 a0005c0036t0001 a0005c0052t0001 a0005c0070t0001 a0005c0071t0041 a0005c0082t0002 a0006c0004t0005 a0006c0004t0042 a0008c0006t0001 a0008c0006t0003 a0008c0006t0005 a0008c0006t0007 a0008c0006t0012 a0008c0006t0014 a0008c0006t0047 a0008c0048t0030 a0008c0049t0004 a0009c0018t0003 a0009c0018t0038 a0009c0021t0001 a0009c0021t0004 a0009c0027t0006 a0009c0028t0048 a0010c0007t0002 a0010c0007t0003 a0010c0007t0010 a0010c0030t0001 a0011c0010t0005 a0011c0055t0001 a0012c0040t0029 a0012c0041t0002 a0013c0013t0002 a0013c0013t0003 a0013c0013t0025 a0014c0023t0007 a0014c0023t0017 a0014c0023t0036 a0014c0053t0002 a0016c0019t0018 a0018c0079t0004 a0018c0080t0004 a0019c0106t0001 a0022c0050t0001 a0023c0072t0001 a0025c0083t0001 a0033c0101t0001 a0035c0091t0008	a0001c0001t0001g0016 a0002c0011t0004g0112 a0002c0011t0004g0213 others(115): Show a0001c0001t0001g0016 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 a0002c0011t0020g0171 a0002c0015t0002g0315 a0002c0015t0004g0004 a0002c0015t0013g0305 a0002c0015t0013g0306 a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0025t0007g0237 a0002c0025t0008g0285 a0002c0032t0001g0025 a0002c0032t0001g0317 a0002c0037t0001g0275 a0002c0046t0002g0154 a0002c0058t0007g0143 a0002c0059t0001g0235 a0002c0075t0027g0150 a0002c0085t0008g0142 a0003c0002t0002g0040 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0002t0002g0122 a0003c0002t0002g0126 a0003c0002t0002g0172 a0003c0002t0002g0184 a0003c0002t0002g0205 a0003c0002t0003g0127 a0003c0002t0007g0059 a0003c0002t0010g0270 a0003c0002t0014g0066 a0003c0002t0028g0261 a0003c0002t0050g0068 a0003c0009t0001g0279 a0003c0009t0003g0073 a0003c0009t0003g0138 a0003c0009t0003g0178 a0003c0009t0003g0209 a0003c0009t0006g0186 a0003c0009t0051g0145 a0003c0038t0005g0307 a0003c0076t0002g0130 a0003c0077t0005g0312 a0004c0044t0007g0302 a0004c0112t0005g0098 a0004c0113t0002g0159 a0004c0114t0005g0304 a0005c0016t0001g0049 a0005c0016t0011g0075 a0005c0026t0004g0042 a0005c0036t0001g0091 a0005c0036t0001g0273 a0005c0052t0001g0281 a0005c0070t0001g0316 a0005c0071t0041g0311 a0005c0082t0002g0282 a0006c0004t0005g0206 a0006c0004t0042g0265 a0008c0006t0001g0087 a0008c0006t0003g0187 a0008c0006t0005g0063 a0008c0006t0007g0111 a0008c0006t0012g0081 a0008c0006t0014g0221 a0008c0006t0047g0056 a0008c0048t0030g0022 a0008c0049t0004g0103 a0009c0018t0003g0248 a0009c0018t0038g0228 a0009c0021t0001g0174 a0009c0021t0004g0204 a0009c0027t0006g0224 a0009c0028t0048g0241 a0010c0007t0002g0012 a0010c0007t0002g0013 a0010c0007t0002g0015 a0010c0007t0002g0125 a0010c0007t0003g0149 a0010c0007t0010g0139 a0010c0007t0010g0185 a0010c0007t0010g0200 a0010c0007t0010g0201 a0010c0030t0001g0053 a0011c0010t0005g0097 a0011c0010t0005g0169 a0011c0010t0005g0255 a0011c0010t0005g0258 a0011c0010t0005g0286 a0011c0055t0001g0259 a0012c0040t0029g0001 a0012c0041t0002g0230 a0013c0013t0002g0262 a0013c0013t0003g0120 a0013c0013t0003g0207 a0013c0013t0003g0256 a0013c0013t0025g0032 a0013c0013t0025g0033 a0014c0023t0007g0115 a0014c0023t0017g0105 a0014c0023t0036g0104 a0014c0053t0002g0146 a0016c0019t0018g0131 a0016c0019t0018g0177 a0018c0079t0004g0314 a0018c0080t0004g0107 a0019c0106t0001g0094 a0022c0050t0001g0166 a0023c0072t0001g0309 a0025c0083t0001g0313 a0033c0101t0001g0308 a0035c0091t0008g0161	118	318	0.3711	25	c.422 others(40): Show c.422-614_422-613insGTTTGACTTCTTGCTTGAAAAGCAA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19078.hp2 HG04199.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0238 a0001c0001t0007g0183 a0001c0001t0001g0238 a0001c0001t0007g0183	2	318	0.0063	25	c.421 others(41): Show c.421+986_421+1010dupTTTTTTTTTTTTTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA2_chr9_137002234_137033237	137022012	T T	TGGGGGAA others(18): Show TGGGGGAATGGCTCAGATGGGGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0002 a0001c0054t0002	a0001c0054t0002g0154 a0001c0054t0002g0154	1	320	0.0031	25	c.568 others(38): Show c.568-36_568-12dupCACACCCCATCTGAGCCATTCCCCC	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	6/48			chr9	TogoVar
ABCA4_chr1_93987834_94126148	93998744	T T	TTTATTTT others(18): Show TTTATTTTATTTTATTTTATTTTATG	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19087.hp1 HG02717.hp2 NA19087.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0036 a0001c0004t0001g0223 a0001c0004t0001g0036 a0001c0004t0001g0223	2	306	0.0065	25	c.648 others(42): Show c.6480-635_6480-634insCATAAAATAAAATAAAATAAAATAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	47/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116968	C C	CCTCTTTC others(18): Show CCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0002 a0007c0027t0002	a0007c0027t0002g0022 a0007c0027t0002g0022	1	306	0.0033	25	c.67- others(40): Show c.67-3903_67-3902insAAGAAAGAAAGAAAGAAAGAAAGAG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0331 a0001c0004t0003g0331	1	350	0.0029	25	c.331 others(44): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69274839	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0335 a0001c0010t0010g0335	1	350	0.0029	25	c.259 others(42): Show c.2595-712_2595-711insAAAAAAAAAAAAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	19/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69146397	T T	TATATATA others(18): Show TATATATATGGAATATATAATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0259 a0006c0010t0001g0259	1	326	0.0031	25	c.-46 others(36): Show c.-4699_-4698insTCCATATTATATATTCCATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4503		chr17	TogoVar
ABCA7_chr19_1035107_1070572	1049822	C C	CCCCCCCA others(18): Show CCCCCCCACCACTCCCTCCCCGTGAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0006 a0008c0006t0002g0006	1	30	0.0333	25	c.255 others(42): Show c.2552+404_2552+405insCGTGAGCCCCCCACCACTCCCTCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68958444	A A	ATATATAT others(18): Show ATATATATAATATATAATATAATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02258.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0230 a0001c0004t0001g0190 a0001c0001t0001g0230 a0001c0004t0001g0190	2	274	0.0073	25	c.-33 others(36): Show c.-3393_-3392insATAATTATATTATATATTATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3053		chr17	TogoVar
ABCB1_chr7_87498017_87605884	87502422	T T	TTATATAT others(18): Show TTATATATATATATAATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02965.hp1 NA18522.hp2 others(1): Show HG01081.hp1 HG02965.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0073 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074	4	352	0.0114	25	c.18 others(36): Show c.1820_*1821insTATATATATATTATATATATATATA	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding		594		chr7	TogoVar
ABCB1_chr7_87498017_87605884	87548137	A A	AAGGGGAG others(18): Show AAGGGGAGGGAAGGGGAGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	352	0.0028	25	c.172 others(44): Show c.1725+1210_1725+1211insCCCCTTCCCTCCCCTTCCCTCCCCT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	14/27			chr7	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	232	0.0043	25	c.334 others(42): Show c.334-5011_334-4987dupAAAAAAAAAAAAAAAAAAAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCC1_chr16_15944616_16148053	16006847	T T	TGGTGGCG others(18): Show TGGTGGCGGGTGGCGGTGGCGGTGGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18978.hp2 HG01081.hp1 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0002 a0001c0003t0001 a0001c0004t0002	a0001c0003t0001g0218 a0001c0004t0002g0206 a0001c0003t0001g0218 a0001c0004t0002g0206	2	249	0.0080	25	c.49- others(38): Show c.49-961_49-960insGTGGCGGTGGCGGTGGCGGTGGCGG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16006847	T T	TGGTGGCG others(18): Show TGGTGGCGGTGGCGGGTGGCGGTGGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18944.hp2 HG03710.hp1 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0025 a0001c0002t0001 a0001c0003t0025	a0001c0002t0001g0163 a0001c0003t0025g0141 a0001c0002t0001g0163 a0001c0003t0025g0141	2	249	0.0080	25	c.49- others(38): Show c.49-955_49-954insGTGGCGGTGGCGGTGGCGGTGGCGG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143530	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01517.hp2 HG02129.hp1 others(4): Show HG00323.hp1 HG01517.hp2 HG02129.hp1 HG03239.hp1 HG03710.hp2 NA18966.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0013	a0001c0002t0002 a0001c0004t0002 a0001c0005t0002 others(3): Show a0001c0002t0002 a0001c0004t0002 a0001c0005t0002 a0001c0005t0007 a0001c0006t0002 a0001c0013t0002	a0001c0002t0002g0193 a0001c0004t0002g0159 a0001c0005t0002g0067 others(4): Show a0001c0002t0002g0193 a0001c0004t0002g0159 a0001c0005t0002g0067 a0001c0005t0002g0074 a0001c0005t0007g0228 a0001c0006t0002g0073 a0001c0013t0002g0090	7	249	0.0281	25	c.22 others(36): Show c.2249_*2250insTTTTTTTTTTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		478		chr16	TogoVar
ABCC8_chr11_17387885_17481845	17466660	A A	AGGCTGGA others(18): Show AGGCTGGAGTGCAGTGGCACAATCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00609.hp1 others(101): Show HG00140.hp1 HG00408.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18955.hp2 NA18959.hp2 NA18963.hp2 NA18967.hp1 NA18971.hp2 NA18983.hp1 NA18987.hp2 NA18993.hp2 NA18995.hp2 NA19000.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0007 a0008 a0010 a0011 a0012 a0013 a0015	a0001c0001 a0001c0003 a0001c0004 others(32): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0013 a0001c0014 a0001c0015 a0001c0019 a0001c0020 a0001c0023 a0001c0025 a0001c0028 a0001c0043 a0001c0051 a0001c0073 a0001c0081 a0002c0005 a0002c0016 a0002c0044 a0002c0045 a0002c0047 a0002c0050 a0004c0038 a0004c0040 a0004c0041 a0005c0057 a0007c0039 a0008c0055 a0010c0066 a0011c0052 a0012c0072 a0013c0042 a0015c0037	a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 others(33): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0013t0001 a0001c0014t0001 a0001c0014t0002 a0001c0015t0001 a0001c0019t0001 a0001c0020t0001 a0001c0023t0001 a0001c0025t0001 a0001c0028t0001 a0001c0043t0001 a0001c0051t0001 a0001c0073t0001 a0001c0081t0001 a0002c0005t0001 a0002c0016t0001 a0002c0044t0001 a0002c0045t0001 a0002c0047t0001 a0002c0050t0001 a0004c0038t0001 a0004c0040t0001 a0004c0041t0001 a0005c0057t0001 a0007c0039t0001 a0008c0055t0001 a0010c0066t0001 a0011c0052t0001 a0012c0072t0001 a0013c0042t0001 a0015c0037t0001	a0001c0001t0001g0076 a0001c0001t0001g0173 a0001c0003t0001g0030 others(101): Show a0001c0001t0001g0076 a0001c0001t0001g0173 a0001c0003t0001g0030 a0001c0003t0001g0082 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0115 a0001c0003t0001g0118 a0001c0003t0001g0160 a0001c0003t0001g0162 a0001c0003t0001g0164 a0001c0003t0001g0282 a0001c0003t0001g0309 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0004t0002g0012 a0001c0006t0001g0044 a0001c0006t0001g0079 a0001c0006t0001g0080 a0001c0006t0001g0083 a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0001g0092 a0001c0006t0001g0096 a0001c0006t0001g0097 a0001c0006t0001g0102 a0001c0006t0001g0103 a0001c0006t0001g0107 a0001c0006t0001g0278 a0001c0007t0001g0116 a0001c0007t0001g0119 a0001c0007t0001g0124 a0001c0007t0001g0125 a0001c0007t0001g0126 a0001c0007t0001g0128 a0001c0007t0001g0131 a0001c0007t0001g0163 a0001c0007t0001g0310 a0001c0008t0001g0041 a0001c0008t0001g0042 a0001c0008t0001g0081 a0001c0008t0001g0165 a0001c0013t0001g0175 a0001c0014t0001g0084 a0001c0014t0001g0320 a0001c0014t0001g0322 a0001c0014t0002g0006 a0001c0015t0001g0018 a0001c0015t0001g0019 a0001c0015t0001g0020 a0001c0015t0001g0021 a0001c0015t0001g0022 a0001c0015t0001g0023 a0001c0015t0001g0024 a0001c0015t0001g0155 a0001c0019t0001g0121 a0001c0019t0001g0280 a0001c0019t0001g0321 a0001c0020t0001g0043 a0001c0023t0001g0031 a0001c0025t0001g0054 a0001c0025t0001g0056 a0001c0025t0001g0075 a0001c0028t0001g0159 a0001c0043t0001g0093 a0001c0051t0001g0127 a0001c0073t0001g0055 a0001c0081t0001g0017 a0002c0005t0001g0025 a0002c0005t0001g0026 a0002c0005t0001g0110 a0002c0005t0001g0111 a0002c0005t0001g0114 a0002c0005t0001g0120 a0002c0005t0001g0122 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0161 a0002c0005t0001g0277 a0002c0005t0001g0279 a0002c0005t0001g0283 a0002c0016t0001g0098 a0002c0044t0001g0117 a0002c0045t0001g0085 a0002c0047t0001g0112 a0002c0050t0001g0099 a0004c0038t0001g0108 a0004c0040t0001g0113 a0004c0041t0001g0145 a0005c0057t0001g0089 a0007c0039t0001g0109 a0008c0055t0001g0078 a0010c0066t0001g0174 a0011c0052t0001g0281 a0012c0072t0001g0053 a0013c0042t0001g0123 a0015c0037t0001g0104	104	330	0.3152	25	c.413 others(42): Show c.413-3081_413-3057dupAAGATTGTGCCACTGCACTCCAGCC	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	3/38			chr11	TogoVar
ABCC9_chr12_21792389_21946426	21915251	G G	GTGTGTGT others(18): Show GTGTGTGTATATAATGTGTATATGTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0071 a0001c0001t0014g0071	1	212	0.0047	25	c.816 others(40): Show c.816+416_816+417insTACATATACACATTATATACACACA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02976.hp1 HG03669.hp2 HG02735.hp1 HG02976.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0080	3	212	0.0142	25	c.816 others(40): Show c.816+153_816+154insAAAAAAAAAAAAATATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02293.hp1 HG02723.hp2 others(2): Show HG00639.hp1 HG02293.hp1 HG02723.hp2 NA18978.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0072 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0072 a0001c0001t0002g0078 a0001c0001t0006g0027	5	212	0.0236	25	c.816 others(40): Show c.816+153_816+154insAAAAAAAAAAAAAAATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCG2_chr4_88085269_88163639	88137012	C C	CAATAAAA others(18): Show CAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG01106.hp2 others(22): Show HG00597.hp1 HG00609.hp2 HG01106.hp2 HG01981.hp2 HG02071.hp1 HG02135.hp1 HG02293.hp2 HG02965.hp2 HG03491.hp1 HG03492.hp1 HG04115.hp2 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18961.hp2 NA18972.hp1 NA18983.hp2 NA18988.hp2 NA18995.hp1 NA19057.hp1 NA19070.hp1 NA19085.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0003	a0002c0002t0001g0054 a0002c0002t0001g0067 a0002c0002t0001g0074 others(20): Show a0002c0002t0001g0054 a0002c0002t0001g0067 a0002c0002t0001g0074 a0002c0002t0002g0061 a0003c0003t0001g0004 a0003c0003t0001g0117 a0003c0003t0001g0195 a0003c0003t0001g0218 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0291 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0309 a0003c0003t0001g0327 a0003c0003t0003g0006 a0003c0003t0003g0183 a0003c0003t0003g0250 a0003c0003t0003g0251 a0003c0003t0003g0252 a0003c0003t0003g0253 a0003c0003t0003g0262 a0003c0003t0003g0313	25	350	0.0714	25	c.203 others(42): Show c.203+2756_203+2780dupTTATTTTATTTTATTTTATTTTATT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	2/15			chr4	TogoVar
ABCG4_chr11_119144052_119167653	119157663	G G	GGAGACCA others(18): Show GGAGACCATCCTGGCTAACACGGTGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01256.hp2 others(78): Show HG00423.hp1 HG00423.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp2 HG03927.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18972.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18991.hp1 NA18997.hp1 NA19000.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19240.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0011 others(1): Show a0001c0001 a0001c0005 a0001c0011 a0001c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0005t0015 a0001c0011t0001 a0001c0016t0007	a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0001t0002g0090 others(24): Show a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0040 a0001c0001t0003g0046 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0091 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0004g0008 a0001c0001t0004g0043 a0001c0001t0005g0026 a0001c0001t0009g0063 a0001c0001t0009g0064 a0001c0005t0015g0101 a0001c0011t0001g0085 a0001c0016t0007g0084	81	388	0.2088	25	c.106 others(42): Show c.1069-570_1069-546dupGAGACCATCCTGGCTAACACGGTGA	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ABCG8_chr2_43833971_43887988	43887143	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 NA18955.hp2 NA18981.hp2 others(1): Show HG02056.hp2 NA18955.hp2 NA18981.hp2 NA18987.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0027 a0001c0001 a0014c0027	a0001c0001t0001 a0001c0001t0019 a0014c0027t0006 a0001c0001t0001 a0001c0001t0019 a0014c0027t0006	a0001c0001t0001g0154 a0001c0001t0019g0079 a0001c0001t0019g0132 others(1): Show a0001c0001t0001g0154 a0001c0001t0019g0079 a0001c0001t0019g0132 a0014c0027t0006g0232	4	318	0.0126	25	c.92 others(36): Show c.9230_*9231insAAAAAAAAAAAAAAAAAAAAAAAAA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		4156		chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAGAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	376	0.0027	25	c.-11 others(36): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAGAGAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp2 HG02976.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0286 a0001c0003t0002g0303 a0001c0003t0002g0286 a0001c0003t0002g0303	2	316	0.0063	25	c.422 others(40): Show c.422+943_422+944insAAATATATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp1 HG01884.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0003g0219 a0001c0003t0002g0171 a0001c0002t0003g0219 a0001c0003t0002g0171	2	316	0.0063	25	c.422 others(40): Show c.422+943_422+944insAAAAATATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG01167.hp1 others(16): Show HG00544.hp1 HG00738.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01496.hp1 HG02647.hp2 HG03540.hp2 HG03688.hp2 HG03710.hp1 HG04199.hp1 NA18942.hp2 NA18970.hp1 NA19057.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0007 a0001c0003t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0002	a0001c0002t0003g0175 a0001c0002t0003g0213 a0001c0002t0003g0216 others(16): Show a0001c0002t0003g0175 a0001c0002t0003g0213 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0007g0196 a0001c0003t0002g0227 a0001c0003t0002g0236 a0001c0003t0002g0237 a0001c0003t0002g0238 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0246 a0001c0003t0002g0254 a0001c0003t0002g0264	19	316	0.0601	25	c.422 others(40): Show c.422+943_422+944insAAAAAAATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02559.hp2 HG03831.hp1 others(1): Show HG01981.hp1 HG02559.hp2 HG03831.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0003g0190 a0001c0002t0003g0214 a0001c0003t0002g0253 others(1): Show a0001c0002t0003g0190 a0001c0002t0003g0214 a0001c0003t0002g0253 a0001c0003t0002g0262	4	316	0.0127	25	c.422 others(40): Show c.422+943_422+944insAAAAAAAAATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322382	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0273 a0001c0003t0006g0273	1	316	0.0032	25	c.422 others(40): Show c.422+942_422+943insTATATATATATATATATATATATAT	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTTGTGTG others(18): Show TTTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp2 HG01071.hp1 others(6): Show HG00673.hp1 HG01070.hp2 HG01071.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 NA18956.hp2 NA18973.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001	a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 others(5): Show a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0004g0094 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0007g0272 a0001c0002t0001g0011	9	360	0.0250	25	c.590 others(42): Show c.590+9315_590+9316insTGTGTGTGTGTGTGTGTGTGTGTGT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89205128	T T	TTTCTCTC others(18): Show TTTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	234	0.0043	25	c.97 others(36): Show c.9705_*9706insTTCTCTCTCTCTCTCTCTCTCTCTC	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding		2774		chr15	TogoVar
ABI1_chr10_26741596_26865958	26773215	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(29): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01361.hp2 HG01496.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02135.hp1 HG02647.hp2 HG03017.hp1 HG03017.hp2 HG03486.hp1 HG03704.hp2 HG04184.hp1 NA18941.hp1 NA18944.hp2 NA18955.hp1 NA18961.hp2 NA19002.hp2 NA19054.hp2 NA19060.hp2 NA19088.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 others(29): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0115 a0001c0001t0001g0233 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0301 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0010g0068 a0001c0001t0011g0062 a0001c0001t0015g0026	32	358	0.0894	25	c.463 others(42): Show c.463-2127_463-2126insAAAAAAAAAAAAAAAAAAAAAAAAA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	3/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203385139	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0274 a0001c0001t0018g0274	1	320	0.0031	25	c.480 others(42): Show c.480+2946_480+2947insTTTTTTTTTTTTTTTTTTTTTTTTT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100894938	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp2 HG01496.hp1 others(1): Show HG01123.hp2 HG01358.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0002c0006t0001 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0006t0001 a0003c0003t0005	a0001c0001t0002g0093 a0002c0002t0002g0104 a0002c0006t0001g0103 others(1): Show a0001c0001t0002g0093 a0002c0002t0002g0104 a0002c0006t0001g0103 a0003c0003t0005g0099	4	238	0.0168	25	c.461 others(42): Show c.461+3799_461+3823dupTTTTTTTTTTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABL2_chr1_179094330_179234677	179101996	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 NA18991.hp1 NA19065.hp2 HG01433.hp2 NA18991.hp1 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0049 a0001c0003t0028 a0001c0003t0049	a0001c0003t0028g0001 a0001c0003t0028g0016 a0001c0003t0049g0014 a0001c0003t0028g0001 a0001c0003t0028g0016 a0001c0003t0049g0014	3	350	0.0086	25	c.56 others(36): Show c.5697_*5721dupAAAAAAAAAAAAAAAAAAAAAAAAA	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	5721		chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114500731	A A	AGGAAGGG others(18): Show AGGAAGGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG01952.hp1 others(7): Show HG01081.hp2 HG01175.hp1 HG01952.hp1 HG02071.hp2 HG02698.hp1 HG02717.hp2 HG03654.hp2 NA18612.hp1 NA18973.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0027 a0001c0001t0072 a0001c0002t0005 others(7): Show a0001c0001t0027 a0001c0001t0072 a0001c0002t0005 a0001c0002t0120 a0001c0003t0014 a0001c0003t0017 a0001c0003t0029 a0001c0003t0043 a0001c0003t0128 a0001c0003t0129	a0001c0001t0027g0158 a0001c0001t0072g0183 a0001c0002t0005g0184 others(7): Show a0001c0001t0027g0158 a0001c0001t0072g0183 a0001c0002t0005g0184 a0001c0002t0120g0122 a0001c0003t0014g0072 a0001c0003t0017g0055 a0001c0003t0029g0210 a0001c0003t0043g0078 a0001c0003t0128g0048 a0001c0003t0129g0218	10	256	0.0391	25	c.895 others(42): Show c.895-8878_895-8854dupCTTCCCTTCCCTTCCCTTCCCTTCC	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	6/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114500771	G G	GGGAAGGG others(18): Show GGGAAGGGAAGGGAAGGGAAGGGAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0013 a0001c0002t0074g0013	1	256	0.0039	25	c.895 others(42): Show c.895-8894_895-8893insTTTCCCTTCCCTTCCCTTCCCTTCC	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	6/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114584135	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0019 a0001c0001t0087g0019	1	256	0.0039	25	c.380 others(42): Show c.380-8561_380-8537dupCTTTTCTTTTCTTTTCTTTTCTTTT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar

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